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
SPEN	23013	broad.mit.edu	37	1	16259024	16259024	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:16259024G>C	ENST00000375759.3	+	11	6493	c.6289G>C	c.(6289-6291)Gat>Cat	p.D2097H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2097					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAAAAATGTGGATGCTGCTGT	0.517000													24	81					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51890113	51890113	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr6:51890113G>A	ENST00000371117.3	-	32	4770	c.4495C>T	c.(4495-4497)Ctg>Ttg	p.L1499L	PKHD1_ENST00000340994.4_Silent_p.L1499L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1499	IPT/TIG 10.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACAGTGGTCAGAGACCCACTG	0.478000													19	84					0	0	1	0	0
PAXBP1	94104	broad.mit.edu	37	21	34117143	34117143	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr21:34117143C>T	ENST00000331923.4	-	13	2339	c.2150G>A	c.(2149-2151)gGa>gAa	p.G717E	PAXBP1_ENST00000290178.4_Missense_Mutation_p.G717E	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1																		TGAAGGATATCCATTGATTAA	0.313000													29	71					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63487959	63487959	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr11:63487959G>A	ENST00000377819.5	+	3	2139	c.1985G>A	c.(1984-1986)aGa>aAa	p.R662K	RTN3_ENST00000339997.4_Missense_Mutation_p.R643K|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.R550K|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	662					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				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						ACAGAAACCAGAGATAAAGGA	0.368000													14	40					0	0	1	0	0
VPS54	51542	broad.mit.edu	37	2	64148440	64148440	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:64148440G>C	ENST00000409558.4	-	13	1887	c.1733C>G	c.(1732-1734)tCa>tGa	p.S578*	VPS54_ENST00000354504.3_Nonsense_Mutation_p.S437*|VPS54_ENST00000272322.4_Nonsense_Mutation_p.S590*	NM_001005739.1|NM_016516.2	NP_001005739.1|NP_057600.2	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)						protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TCCTAGCTCTGAGTCAGTTAA	0.358000													8	126					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5568131	5568131	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr7:5568131C>T	ENST00000331789.5	-	4	774	c.583G>A	c.(583-585)Gag>Aag	p.E195K		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	195					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TAGCCGCGCTCGGTGAGGATC	0.612000													12	37					0	0	1	0	0
ZDHHC11	79844	broad.mit.edu	37	5	840617	840617	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr5:840617G>C	ENST00000283441.8	-	5	1160	c.777C>G	c.(775-777)atC>atG	p.I259M	ZDHHC11_ENST00000424784.2_Missense_Mutation_p.I259M|ZDHHC11_ENST00000511539.1_Missense_Mutation_p.I46M|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	259						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			TACTCAGGTAGATGTGGAAGA	0.572000													4	113					0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73492500	73492500	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr17:73492500C>T	ENST00000314256.7	+	24	3585	c.3191C>T	c.(3190-3192)tCc>tTc	p.S1064F	KIAA0195_ENST00000375248.5_Missense_Mutation_p.S1074F|KIAA0195_ENST00000579208.1_Missense_Mutation_p.S715F	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1064					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGCCCTGTTCCCTGACCTTT	0.622000													12	25					0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68613706	68613706	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:68613706C>A	ENST00000234313.7	+	5	724	c.545C>A	c.(544-546)tCa>tAa	p.S182*		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	182	DEP.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		ATGATTGCTTCATCGCTGCTC	0.522000													16	56					0.000566183	0.000577979	1	1	0
AMACR	23600	broad.mit.edu	37	5	34008105	34008105	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr5:34008105G>A	ENST00000335606.6	-	1	108	c.20C>T	c.(19-21)tCg>tTg	p.S7L	RP11-1084J3.4_ENST00000382079.3_Intron|AMACR_ENST00000382085.3_Missense_Mutation_p.S7L|AMACR_ENST00000382072.2_Missense_Mutation_p.S7L|AMACR_ENST00000502637.1_Missense_Mutation_p.S7L|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000441713.2_Missense_Mutation_p.S7L|AMACR_ENST00000382068.3_Missense_Mutation_p.S7L|AMACR_ENST00000426255.2_Missense_Mutation_p.S7L|AMACR_ENST00000512079.1_Missense_Mutation_p.S7L	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	7					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						CTCCACGACCGAGATGCCCTG	0.692000													20	29					0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226549209	226549209	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:226549209C>T	ENST00000366794.5	-	23	3140	c.2997G>A	c.(2995-2997)ctG>ctA	p.L999L	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	999	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GCAGATACTTCAGATTTACCT	0.463000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					17	25					0	0	1	0	0
C12orf66	144577	broad.mit.edu	37	12	64588323	64588323	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr12:64588323G>C	ENST00000311915.8	-	3	664	c.637C>G	c.(637-639)Ctg>Gtg	p.L213V	C12orf66_ENST00000544871.1_Missense_Mutation_p.L160V|C12orf66_ENST00000398055.3_Missense_Mutation_p.L213V			Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	213										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						AAATTAACCAGAGATGGGAGG	0.522000													10	41					0	0	1	0	0
SPOPL	339745	broad.mit.edu	37	2	139310159	139310159	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:139310159G>A	ENST00000280098.4	+	5	767	c.388G>A	c.(388-390)Gac>Aac	p.D130N		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	130	MATH.					nucleus		p.D130Y(1)		breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GCAAGGGAAGGACTGGGGTTT	0.348000													7	53					0	0	1	0	0
NEIL1	79661	broad.mit.edu	37	15	75641616	75641616	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr15:75641616G>A	ENST00000564784.1	+	3	999	c.370G>A	c.(370-372)Gac>Aac	p.D124N	NEIL1_ENST00000569035.1_Missense_Mutation_p.D124N|NEIL1_ENST00000567959.1_Intron|NEIL1_ENST00000355059.4_Missense_Mutation_p.D124N			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	124					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						CGGCCGCTGGGACCTTGGGGG	0.672000								Base excision repair (BER), DNA glycosylases					9	38					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101801874	101801874	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr7:101801874G>C	ENST00000360264.3	+	9	762	c.742G>C	c.(742-744)Gaa>Caa	p.E248Q	CUX1_ENST00000550008.2_Missense_Mutation_p.E237Q|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Missense_Mutation_p.E237Q|CUX1_ENST00000549414.2_Missense_Mutation_p.E237Q|CUX1_ENST00000292535.7_Missense_Mutation_p.E237Q|CUX1_ENST00000547394.2_Missense_Mutation_p.E232Q|CUX1_ENST00000425244.2_Missense_Mutation_p.E202Q|CUX1_ENST00000556210.1_Missense_Mutation_p.E237Q|CUX1_ENST00000292538.4_Missense_Mutation_p.E248Q|CUX1_ENST00000393824.3_Missense_Mutation_p.E211Q|CUX1_ENST00000437600.4_Missense_Mutation_p.E248Q	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	237					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GACGGACCTTGAAAGGGCAAA	0.552000													7	70					0	0	1	0	0
ODC1	4953	broad.mit.edu	37	2	10582221	10582221	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:10582221C>G	ENST00000234111.4	-	9	1340	c.830G>C	c.(829-831)aGa>aCa	p.R277T	ODC1_ENST00000405333.1_Missense_Mutation_p.R277T	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	277					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	AACATAGTATCTGCCGGGCTC	0.433000													6	62					0	0	1	0	0
HOXD10	3236	broad.mit.edu	37	2	176983908	176983908	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:176983908G>T	ENST00000249501.4	+	2	1227	c.972G>T	c.(970-972)atG>atT	p.M324I	HOXD10_ENST00000490088.2_3'UTR	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	324						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		TCAAGAAGATGAGCCGAGAGA	0.567000													12	47					1.08611e-07	1.16823e-07	1	1	0
UBR4	23352	broad.mit.edu	37	1	19513964	19513964	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:19513964G>C	ENST00000375267.2	-	12	1468	c.1465C>G	c.(1465-1467)Caa>Gaa	p.Q489E	UBR4_ENST00000375217.2_Missense_Mutation_p.Q489E|UBR4_ENST00000375226.2_Missense_Mutation_p.Q489E|UBR4_ENST00000375254.3_Missense_Mutation_p.Q489E			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	489					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGTAGGTCTTGAAAGAGAGAC	0.458000													29	61					0	0	1	0	0
ABHD13	84945	broad.mit.edu	37	13	108882430	108882430	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr13:108882430G>C	ENST00000375898.3	+	2	1165	c.864G>C	c.(862-864)aaG>aaC	p.K288N		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	288						integral to membrane	hydrolase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CTCGGACTAAGAGATTAGCCA	0.418000													16	61					0	0	1	0	0
ZAK	51776	broad.mit.edu	37	2	174130883	174130883	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:174130883C>G	ENST00000375213.3	+	20	1886	c.1808C>G	c.(1807-1809)tCa>tGa	p.S603*	MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Nonsense_Mutation_p.S603*	NM_016653.2	NP_057737.2																					CCGTTCTTCTCACACTTTGAT	0.512000													55	16					0	0	1	0	0
RPL19	6143	broad.mit.edu	37	17	37360818	37360818	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr17:37360818C>G	ENST00000579260.1	+	6	905	c.502C>G	c.(502-504)Cgc>Ggc	p.R168G	RPL19_ENST00000225430.4_Missense_Mutation_p.R170G|RPL19_ENST00000579374.1_Missense_Mutation_p.R167G|RPL19_ENST00000582193.1_Missense_Mutation_p.R168G			P84098	RL19_HUMAN	ribosomal protein L19	170					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						CAAGGAAGCACGCAAGCGCCG	0.527000													3	73					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202287145	202287145	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:202287145G>A	ENST00000367278.3	+	18	1803	c.1714G>A	c.(1714-1716)Gtg>Atg	p.V572M	LGR6_ENST00000439764.2_Missense_Mutation_p.V433M|LGR6_ENST00000255432.7_Missense_Mutation_p.V520M	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	572						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GTGGGCCATCGTGTTGCTCTC	0.612000													23	53					0	0	1	0	0
SHKBP1	92799	broad.mit.edu	37	19	41086747	41086747	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:41086747G>A	ENST00000291842.5	+	9	798	c.749G>A	c.(748-750)gGg>gAg	p.G250E	SHKBP1_ENST00000600733.1_Missense_Mutation_p.G250E	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	250						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTGCATGGTGGGGCTTTGGGT	0.627000													8	81					0	0	1	0	0
KDM3A	55818	broad.mit.edu	37	2	86693697	86693697	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:86693697G>T	ENST00000409556.1	+	11	1575	c.1210G>T	c.(1210-1212)Gag>Tag	p.E404*	KDM3A_ENST00000542128.1_Nonsense_Mutation_p.E352*|KDM3A_ENST00000312912.5_Nonsense_Mutation_p.E404*|KDM3A_ENST00000409064.1_Nonsense_Mutation_p.E404*			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	404					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						AAACAGATTGGAGTCTGTTCC	0.448000													22	77					1.9806e-07	2.12517e-07	1	1	0
KIF9	64147	broad.mit.edu	37	3	47307254	47307254	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr3:47307254C>T	ENST00000335044.2	-	8	1239	c.882G>A	c.(880-882)caG>caA	p.Q294Q	KIF9_ENST00000452770.2_Silent_p.Q294Q|KIF9_ENST00000265529.3_Silent_p.Q294Q|KIF9_ENST00000444589.2_Silent_p.Q294Q|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000352910.4_Silent_p.Q201Q	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	294					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGAGCTTGCACTGCCGAAAGG	0.582000													13	44					0	0	1	0	0
ICAM5	7087	broad.mit.edu	37	19	10401846	10401846	+	Missense_Mutation	SNP	C	C	T	rs11669397		TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:10401846C>T	ENST00000221980.4	+	2	244	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	ICAM5_ENST00000586004.1_3'UTR	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	61	Ig-like C2-type 1.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CAACTGCCCTCGGCCGGAGCG	0.701000													7	27					0	0	1	0	0
MFSD5	84975	broad.mit.edu	37	12	53647946	53647946	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr12:53647946G>A	ENST00000534842.1	+	2	1795	c.1648G>A	c.(1648-1650)Gag>Aag	p.E550K	MFSD5_ENST00000329548.4_Missense_Mutation_p.E443K	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	443					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						TTCACCTACTGAGGAGCCCTA	0.547000													11	37					0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166533036	166533036	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:166533036C>G	ENST00000314499.7	+	6	999	c.623C>G	c.(622-624)tCa>tGa	p.S208*	CSRNP3_ENST00000409420.1_Nonsense_Mutation_p.S240*|CSRNP3_ENST00000342316.4_Nonsense_Mutation_p.S208*	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	208					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						ATCCGCCTCTCACGAGAGGAC	0.532000													18	52					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32740707	32740707	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:32740707C>T	ENST00000421745.2	+	55	11353	c.11219C>T	c.(11218-11220)tCa>tTa	p.S3740L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3740					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGTGCAAGATCAGCTTCTCTT	0.448000													17	61					0	0	1	0	0
MAPK10	5602	broad.mit.edu	37	4	86952551	86952551	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr4:86952551C>T	ENST00000395169.3	-	12	1750	c.1030G>A	c.(1030-1032)Gaa>Aaa	p.E344K	MAPK10_ENST00000395160.3_Missense_Mutation_p.E237K|MAPK10_ENST00000395166.1_Missense_Mutation_p.E344K|MAPK10_ENST00000395157.3_Missense_Mutation_p.E237K|MAPK10_ENST00000449047.2_Missense_Mutation_p.E237K|MAPK10_ENST00000359221.3_Missense_Mutation_p.E382K|MAPK10_ENST00000361569.2_Missense_Mutation_p.E382K|MAPK10_ENST00000395161.2_Missense_Mutation_p.E382K	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	382	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		TGTTCTCTTTCATCCAACTGC	0.313000													4	16					0	0	1	0	0
HIBADH	11112	broad.mit.edu	37	7	27570820	27570820	+	Silent	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr7:27570820G>C	ENST00000265395.2	-	7	1049	c.843C>G	c.(841-843)ctC>ctG	p.L281L		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	281					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	CCTTAGCCATGAGTGTTGTTC	0.438000													5	44					0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	83926234	83926234	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr6:83926234G>C	ENST00000369705.3	-	13	1647	c.1531C>G	c.(1531-1533)Ctg>Gtg	p.L511V	ME1_ENST00000543031.1_Missense_Mutation_p.L436V|ME1_ENST00000541327.1_Missense_Mutation_p.L345V	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	511					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	GCAATTTTCAGAGAAACATCT	0.323000													9	66					0	0	1	0	0
ACADM	34	broad.mit.edu	37	1	76211508	76211508	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:76211508G>A	ENST00000370841.4	+	8	1054	c.617G>A	c.(616-618)cGt>cAt	p.R206H	ACADM_ENST00000420607.2_Missense_Mutation_p.R210H|ACADM_ENST00000370834.5_Missense_Mutation_p.R239H|ACADM_ENST00000543667.1_Missense_Mutation_p.R17H|ACADM_ENST00000541113.1_Missense_Mutation_p.R170H	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	206			R -> L (in ACADMD).		carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						TTATTGGCACGTTCTGATCCA	0.383000													14	93					0	0	1	0	0
RPS7	6201	broad.mit.edu	37	2	3628398	3628398	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:3628398G>A	ENST00000304921.5	+	7	675	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	RPS7_ENST00000403564.1_Missense_Mutation_p.E171K|RPS7_ENST00000406376.1_Missense_Mutation_p.E171K	NM_001011.3	NP_001002.1	P62081	RS7_HUMAN	ribosomal protein S7	171					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		CTTGTAGGTTGAAACTTTTTC	0.318000													8	24					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88780504	88780504	+	Silent	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr11:88780504C>G	ENST00000418177.2	-	2	904	c.537G>C	c.(535-537)ctG>ctC	p.L179L	GRM5_ENST00000393294.3_Silent_p.L179L|GRM5_ENST00000305432.5_Silent_p.L179L|GRM5_ENST00000305447.4_Silent_p.L179L|GRM5_ENST00000393297.1_Silent_p.L179L|GRM5_ENST00000455756.2_Silent_p.L179L			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	179					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TCTTGTCACTCAGATCCATGC	0.483000													12	30					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124376385	124376385	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr3:124376385G>C	ENST00000291478.5	+	7	1022	c.859G>C	c.(859-861)Gac>Cac	p.D287H	KALRN_ENST00000428018.2_Missense_Mutation_p.D255H|KALRN_ENST00000360013.3_Missense_Mutation_p.D1984H|KALRN_ENST00000459915.1_Missense_Mutation_p.D76H|KALRN_ENST00000393496.1_Missense_Mutation_p.D325H	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCAGATTTATGACTGGCATAA	0.478000													6	20					0	0	1	0	0
PARPBP	55010	broad.mit.edu	37	12	102558247	102558247	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr12:102558247C>T	ENST00000327680.2	+	6	747	c.284C>T	c.(283-285)tCa>tTa	p.S95L	PARPBP_ENST00000543784.1_Missense_Mutation_p.S62L|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000392911.2_Missense_Mutation_p.S95L|PARPBP_ENST00000541394.1_Missense_Mutation_p.S253L|PARPBP_ENST00000358383.5_Missense_Mutation_p.S176L|PARPBP_ENST00000378128.3_Missense_Mutation_p.S176L	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN	PARP1 binding protein	176					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding			endometrium(1)|lung(8)|urinary_tract(2)	11						ATTATCTTTTCATATTTAAAT	0.338000													11	52					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28737471	28737471	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr18:28737471G>A	ENST00000257197.3	-	3	475	c.214C>T	c.(214-216)Cta>Tta	p.L72L	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Silent_p.L72L	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	72					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCATCTTCTAGAATTCTGAAG	0.443000													3	35					0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6047990	6047990	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr11:6047990C>G	ENST00000316650.5	-	1	981	c.945G>C	c.(943-945)caG>caC	p.Q315H		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		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)		ACCTCCCTCTCTGCAGTAACT	0.428000													5	33					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128294303	128294303	+	Splice_Site	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr6:128294303C>G	ENST00000368227.3	-	30	4551		c.e30-1		PTPRK_ENST00000368226.4_Splice_Site|PTPRK_ENST00000368207.3_Splice_Site|PTPRK_ENST00000368210.3_Splice_Site|PTPRK_ENST00000368213.5_Splice_Site|PTPRK_ENST00000532331.1_Splice_Site|PTPRK_ENST00000368215.3_Splice_Site			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K						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		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)		GCCACCATTTCTGAAAGCAAA	0.408000													17	31					0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	192011375	192011375	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:192011375C>G	ENST00000392320.2	-	3	551	c.237G>C	c.(235-237)ttG>ttC	p.L79F	STAT4_ENST00000358470.4_Missense_Mutation_p.L79F|STAT4_ENST00000409995.1_Missense_Mutation_p.L79F	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	79					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GATTGTGTATCAAGAGTAGGT	0.313000													3	23					0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	33951560	33951560	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr17:33951560G>C	ENST00000262325.7	+	6	1223	c.670G>C	c.(670-672)Gac>Cac	p.D224H	AP2B1_ENST00000538556.1_Missense_Mutation_p.D167H|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000592545.1_Missense_Mutation_p.D186H|AP2B1_ENST00000589344.1_Missense_Mutation_p.D224H|AP2B1_ENST00000312678.8_Missense_Mutation_p.D224H|AP2B1_ENST00000537622.2_Missense_Mutation_p.D224H	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	224					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TTTCATCCTGGACTGCCTGTC	0.463000													34	54					0	0	1	0	0
WASF2	10163	broad.mit.edu	37	1	27734817	27734817	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:27734817C>A	ENST00000430629.2	-	9	1578	c.1363G>T	c.(1363-1365)Gag>Tag	p.E455*	WASF2_ENST00000536657.1_3'UTR	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	455					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TCCCGCTGCTCCTCAACCCTG	0.542000													8	39					1.12685e-05	1.18319e-05	1	1	0
SLITRK4	139065	broad.mit.edu	37	X	142716795	142716795	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chrX:142716795C>G	ENST00000381779.4	-	2	2355	c.2130G>C	c.(2128-2130)atG>atC	p.M710I	SLITRK4_ENST00000338017.4_Missense_Mutation_p.M710I|SLITRK4_ENST00000356928.1_Missense_Mutation_p.M710I	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	710						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GATCTGAAAACATGAACCCAG	0.413000													12	33					0	0	1	0	0
FAM228A	653140	broad.mit.edu	37	2	24413285	24413285	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:24413285G>A	ENST00000295150.3	+	6	492	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	RP11-507M3.1_ENST00000584973.1_3'UTR	NM_001040710.1	NP_001035800.1			family with sequence similarity 228, member A																		TCACAGTCCTGAAAAGCTCAT	0.403000													5	17					0	0	1	0	0
ITPKA	3706	broad.mit.edu	37	15	41794614	41794614	+	Silent	SNP	C	C	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr15:41794614C>A	ENST00000260386.5	+	5	1076	c.1023C>A	c.(1021-1023)tcC>tcA	p.S341S		NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN	inositol-trisphosphate 3-kinase A	341					signal transduction		ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	p.S341S(1)		kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CGGACGGCTCCTGCAGCACCG	0.612000													16	38					3.41278e-10	3.74387e-10	1	1	0
PTCHD3	374308	broad.mit.edu	37	10	27687761	27687761	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr10:27687761C>T	ENST00000438700.3	-	4	1883	c.1766G>A	c.(1765-1767)aGa>aAa	p.R589K		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	589					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						AAAATAGTCTCTAAAAAACAA	0.368000													18	41					0	0	1	0	0
CREB3	10488	broad.mit.edu	37	9	35732887	35732887	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr9:35732887C>T	ENST00000353704.2	+	1	556	c.118C>T	c.(118-120)Ccg>Tcg	p.P40S	CREB3_ENST00000486056.1_3'UTR	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	40	Transcription activation (acidic).				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		CTGGGCGCTGCCGCTTTCTGA	0.587000													20	61					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21235182	21235182	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:21235182G>A	ENST00000233242.1	-	26	4685	c.4558C>T	c.(4558-4560)Ctg>Ttg	p.L1520L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1520					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTAAACCTCAGGTTGGACTCT	0.507000													13	39					0	0	1	0	0
HIST1H2BE	8344	broad.mit.edu	37	6	26184245	26184245	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr6:26184245C>T	ENST00000356530.3	+	1	288	c.222C>T	c.(220-222)atC>atT	p.I74I		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	74					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						TCGAGCGCATCGCCGGCGAGG	0.607000													17	93					0	0	1	0	0
SUOX	6821	broad.mit.edu	37	12	56397910	56397910	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr12:56397910C>T	ENST00000394109.3	+	3	1461	c.737C>T	c.(736-738)tCc>tTc	p.S246F	SUOX_ENST00000551841.2_Intron|SUOX_ENST00000266971.3_Missense_Mutation_p.S246F|SUOX_ENST00000394115.2_Missense_Mutation_p.S246F|SUOX_ENST00000356124.4_Missense_Mutation_p.S246F|SUOX_ENST00000548274.1_Missense_Mutation_p.S246F			P51687	SUOX_HUMAN	sulfite oxidase	246	Molybdenum-pterin domain (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CTGTCTCTTTCCCTGGATGAC	0.517000													4	82					0	0	1	0	0
CLMP	79827	broad.mit.edu	37	11	122945490	122945490	+	Silent	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr11:122945490C>G	ENST00000448775.2	-	6	1081	c.741G>C	c.(739-741)ctG>ctC	p.L247L	CLMP_ENST00000530371.1_5'UTR	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	247						integral to membrane|tight junction				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						AGAGGAAAATCAGCAGGGCTC	0.453000													19	58					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98802774	98802774	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr10:98802774C>A	ENST00000266058.4	-	20	2293	c.2048G>T	c.(2047-2049)gGa>gTa	p.G683V	SLIT1_ENST00000371070.4_Missense_Mutation_p.G683V|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	683	LRRCT 3.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TAGCCAGCCTCCTAGCCAGGC	0.622000													4	15					0.00024832	0.000254672	1	1	0
KCNK4	50801	broad.mit.edu	37	11	64064472	64064472	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr11:64064472C>T	ENST00000539216.1	+	2	672	c.312C>T	c.(310-312)atC>atT	p.I104I	KCNK4_ENST00000394525.2_Splice_Site_p.I104I|KCNK4_ENST00000539651.1_3'UTR|KCNK4_ENST00000538767.1_Splice_Site_p.S38L|KCNK4_ENST00000422670.2_Splice_Site_p.I104I|RP11-783K16.10_ENST00000539086.1_RNA			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	104						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						TCACCACCATCGGTGGGGGAG	0.642000													8	30					0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887762	9887762	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr18:9887762C>G	ENST00000357775.5	+	2	1320	c.1085C>G	c.(1084-1086)tCc>tGc	p.S362C	TXNDC2_ENST00000306084.6_Missense_Mutation_p.S429C|TXNDC2_ENST00000536353.2_3'UTR	NM_032243.5	NP_115619.4	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)		22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GCCACCCCATCCAAGGAGGGT	0.542000													22	43					0	0	1	0	0
PCYT1A	5130	broad.mit.edu	37	3	195956929	195956929	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr3:195956929C>T	ENST00000419333.1	-	9	1108	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K	SLC51A_ENST00000296327.5_Silent_p.F259F			P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	0						cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	TTGCTCTGTTCCAGGTAACTA	0.517000													3	15					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40947005	40947005	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr17:40947005C>T	ENST00000246914.5	+	14	2587	c.2566C>T	c.(2566-2568)Cca>Tca	p.P856S		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	856					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AAATCCCTCTCCACACCCCAC	0.587000													13	29					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56320531	56320531	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:56320531C>A	ENST00000443188.1	-	5	2155	c.1445G>T	c.(1444-1446)aGa>aTa	p.R482I	NLRP11_ENST00000592953.1_Missense_Mutation_p.R383I|NLRP11_ENST00000589824.2_Missense_Mutation_p.R482I|NLRP11_ENST00000360133.3_Missense_Mutation_p.R482I|NLRP11_ENST00000589093.1_Missense_Mutation_p.R482I	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	482							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GTATTGTTCTCTCTTCTCTTT	0.398000													10	91					6.40141e-05	6.65807e-05	1	1	0
OR6K3	391114	broad.mit.edu	37	1	158687705	158687705	+	Silent	SNP	G	G	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:158687705G>T	ENST00000368146.1	-	1	248	c.249C>A	c.(247-249)tcC>tcA	p.S83S	OR6K3_ENST00000368145.1_Silent_p.S67S			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TCTCCAGAAAGGAAAATATAC	0.408000													9	130					3.86212e-05	4.03601e-05	1	1	0
TTN	7273	broad.mit.edu	37	2	179590572	179590572	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:179590572G>C	ENST00000589042.1	-	70	20701	c.20477C>G	c.(20476-20478)tCa>tGa	p.S6826*	TTN_ENST00000342992.6_Nonsense_Mutation_p.S5582*|TTN_ENST00000591111.1_Nonsense_Mutation_p.S6509*|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6509	Ig-like 50.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCGATGTCTGAAGTGTCCAC	0.393000													7	32					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71490759	71490759	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr5:71490759C>A	ENST00000296755.7	+	5	1875	c.1577C>A	c.(1576-1578)cCc>cAc	p.P526H		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	526						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GGCCAGGTGCCCACTCCTGTG	0.512000													10	21					1.76689e-08	1.9145e-08	1	1	0
DPY19L2P1	554236	broad.mit.edu	37	7	35131480	35131480	+	RNA	SNP	A	A	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr7:35131480A>T	ENST00000436258.1	-	0	1889																											ATCTTCGTAAAGTGGATGATT	0.423000													3	46					0	0	1	0	0
H2AFJ	55766	broad.mit.edu	37	12	14927678	14927678	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr12:14927678G>C	ENST00000544848.1	+	1	409	c.274G>C	c.(274-276)Gag>Cag	p.E92Q		NM_177925.2	NP_808760.1	Q9BTM1	H2AJ_HUMAN	H2A histone family, member J	92					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						CCGCAACGACGAGGAGTTAAA	0.612000													8	44					0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46588116	46588116	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:46588116C>T	ENST00000263734.3	+	6	1176	c.666C>T	c.(664-666)ctC>ctT	p.L222L		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	222					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TGTCCTGCCTCATCATCATGT	0.547000													10	29					0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159784075	159784075	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:159784075G>A	ENST00000321935.6	+	9	1247	c.1161G>A	c.(1159-1161)agG>agA	p.R387R	FCRL6_ENST00000368106.3_Silent_p.R380R|FCRL6_ENST00000392235.3_Silent_p.R285R|FCRL6_ENST00000339348.5_Silent_p.R380R	NM_001284217.1	NP_001271146.1	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	380						integral to membrane		p.R380R(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					CCTCAAAGAGGAGTGAAGGTG	0.433000													9	25					0	0	1	0	0
TP53INP1	94241	broad.mit.edu	37	8	95942801	95942801	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr8:95942801C>T	ENST00000342697.4	-	4	1036	c.629G>A	c.(628-630)cGt>cAt	p.R210H	TP53INP1_ENST00000448464.2_3'UTR|TP53INP1_ENST00000378776.4_Intron|NDUFAF6_ENST00000396113.1_Intron	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	210					apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					ATTTTGGCGACGAAGGCTATT	0.478000													14	139					0	0	1	0	0
NIM1K	167359	broad.mit.edu	37	5	43280673	43280673	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr5:43280673G>T	ENST00000512796.1	+	4	2652	c.1153G>T	c.(1153-1155)Ggg>Tgg	p.G385W	NIM1_ENST00000326035.2_Missense_Mutation_p.G385W			Q8IY84	NIM1_HUMAN		385							ATP binding|magnesium ion binding|protein serine/threonine kinase activity										CTCAATCACAGGGGTCTATAG	0.408000													17	64					4.7546e-09	5.17724e-09	1	1	0
TAOK1	57551	broad.mit.edu	37	17	27861292	27861292	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr17:27861292C>T	ENST00000261716.3	+	19	3037	c.2518C>T	c.(2518-2520)Ctc>Ttc	p.L840F	TAOK1_ENST00000536202.1_Missense_Mutation_p.L692F	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	840					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GAGGGTCTCCCTCCGGAGGGC	0.413000													4	22					0	0	1	0	0
TPCN1	53373	broad.mit.edu	37	12	113730863	113730863	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr12:113730863G>C	ENST00000550785.1	+	27	2623	c.2454G>C	c.(2452-2454)caG>caC	p.Q818H	TPCN1_ENST00000541517.1_Missense_Mutation_p.Q818H|TPCN1_ENST00000546787.1_3'UTR|TPCN1_ENST00000335509.6_Missense_Mutation_p.Q746H|TPCN1_ENST00000392569.4_Missense_Mutation_p.Q678H	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	746						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CCCTCTCCCAGATGGAGAGAT	0.592000													3	6					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7809003	7809003	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:7809003G>A	ENST00000315599.7	-	6	1025	c.1003C>T	c.(1003-1005)Ctg>Ttg	p.L335L	CD209_ENST00000593660.1_Silent_p.L265L|CD209_ENST00000593821.1_Silent_p.L199L|CD209_ENST00000601256.1_Intron|CD209_ENST00000394173.4_Silent_p.L174L|CD209_ENST00000301357.8_Silent_p.L199L|CD209_ENST00000315591.8_Silent_p.L311L|CD209_ENST00000394161.5_Silent_p.L99L|CD209_ENST00000354397.6_Silent_p.L329L|CD209_ENST00000601951.1_Silent_p.L311L|CD209_ENST00000204801.8_Silent_p.L291L|CD209_ENST00000602261.1_Silent_p.L243L	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	335	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTGGGCAACAGAGGTGAGCCG	0.537000													4	40					0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219515139	219515139	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:219515139T>C	ENST00000411696.2	-	4	1170	c.391A>G	c.(391-393)Acc>Gcc	p.T131A	ZNF142_ENST00000449707.1_Missense_Mutation_p.T131A			P52746	ZN142_HUMAN	zinc finger protein 142	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCCTTCTGGGTGTCACTCTTC	0.542000													5	152					0	0	1	0	0
SKIDA1	387640	broad.mit.edu	37	10	21804607	21804607	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr10:21804607C>G	ENST00000449193.2	-	4	4397	c.2145G>C	c.(2143-2145)aaG>aaC	p.K715N	SKIDA1_ENST00000444772.3_Missense_Mutation_p.K636N	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1																		AAAACTCACCCTTTGTATCAT	0.388000													17	346					0	0	1	0	0
IL6R	3570	broad.mit.edu	37	1	154407569	154407569	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:154407569C>G	ENST00000368485.3	+	5	1181	c.744C>G	c.(742-744)ttC>ttG	p.F248L	IL6R_ENST00000507256.1_3'UTR|IL6R_ENST00000344086.4_Missense_Mutation_p.F248L	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	248	Fibronectin type-III.				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACTCATCTTTCTACAGACTAC	0.527000													4	24					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89350676	89350676	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr16:89350676C>T	ENST00000301030.4	-	9	2734	c.2274G>A	c.(2272-2274)ctG>ctA	p.L758L	ANKRD11_ENST00000378330.2_Silent_p.L758L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	758	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGTACAGTCTCAGTTTTTCTT	0.388000													19	46					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11186835	11186835	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:11186835G>A	ENST00000361445.4	-	46	6446	c.6370C>T	c.(6370-6372)Caa>Taa	p.Q2124*	MTOR_ENST00000376838.1_Nonsense_Mutation_p.Q329*	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2124					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GAAACATATTGCAGCTCTAAG	0.428000													4	92					0	0	1	0	0
AZI2	64343	broad.mit.edu	37	3	28380033	28380033	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr3:28380033C>T	ENST00000479665.1	-	3	821	c.290G>A	c.(289-291)cGa>cAa	p.R97Q	AZI2_ENST00000295748.3_5'UTR|AZI2_ENST00000334100.6_Missense_Mutation_p.R97Q|AZI2_ENST00000457172.1_Missense_Mutation_p.R97Q|AZI2_ENST00000420543.2_Missense_Mutation_p.R97Q	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	97						mitochondrion|plasma membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						GCAAACCTCTCGATATGCATG	0.363000													7	44					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111643853	111643853	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr6:111643853C>T	ENST00000435970.1	-	28	8852	c.8036G>A	c.(8035-8037)aGa>aAa	p.R2679K	REV3L_ENST00000368805.1_Missense_Mutation_p.R2757K|REV3L_ENST00000358835.3_Missense_Mutation_p.R2757K|REV3L_ENST00000368802.3_Missense_Mutation_p.R2757K			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2757					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CAAGGTCTCTCTGGCTTTGTG	0.378000								DNA polymerases (catalytic subunits)					13	72					0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74472149	74472149	+	Silent	SNP	A	A	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr6:74472149A>T	ENST00000437994.2	+	8	1232	c.801A>T	c.(799-801)acA>acT	p.T267T	CD109_ENST00000422508.2_Silent_p.T190T|CD109_ENST00000287097.5_Silent_p.T267T	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	267						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TAACGCTTACATTTTTACCTT	0.303000													10	28					0	0	1	0	0
ZNF426	79088	broad.mit.edu	37	19	9639899	9639899	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:9639899G>A	ENST00000593003.1	-	6	1185	c.708C>T	c.(706-708)ctC>ctT	p.L236L	ZNF426_ENST00000535489.1_Silent_p.L274L|ZNF426_ENST00000253115.2_Silent_p.L274L			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TTTTTGCATTGAGGGTTTCTA	0.423000													15	132					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97915757	97915757	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:97915757G>A	ENST00000370192.3	-	14	1863	c.1763C>T	c.(1762-1764)cCc>cTc	p.P588L		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	588					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GATGATTCTGGGGGAAACATT	0.418000													4	53					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41545700	41545700	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr8:41545700G>A	ENST00000396942.1	-	35	4315	c.4232C>T	c.(4231-4233)tCa>tTa	p.S1411L	ANK1_ENST00000265709.8_Missense_Mutation_p.S1452L|ANK1_ENST00000379758.2_Missense_Mutation_p.S1411L|ANK1_ENST00000396945.1_Missense_Mutation_p.S1411L|ANK1_ENST00000347528.4_Missense_Mutation_p.S1411L|ANK1_ENST00000289734.7_Missense_Mutation_p.S1411L|ANK1_ENST00000352337.4_Missense_Mutation_p.S1411L			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1411	55 kDa regulatory domain.|Death.				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			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)			GAGGTGCTCTGAGATAACAGC	0.517000													51	59					0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33289070	33289070	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr6:33289070G>C	ENST00000374542.5	-	3	686	c.482C>G	c.(481-483)cCc>cGc	p.P161R	DAXX_ENST00000477162.1_Intron|DAXX_ENST00000414083.2_Missense_Mutation_p.P86R|DAXX_ENST00000266000.6_Missense_Mutation_p.P161R	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	161					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GAGGTGTGTGGGAGGGTTATT	0.577000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								16	41					0	0	1	0	0
CCDC151	115948	broad.mit.edu	37	19	11545692	11545692	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:11545692G>A	ENST00000356392.4	-	1	233	c.146C>T	c.(145-147)aCc>aTc	p.T49I	CCDC151_ENST00000591179.1_Missense_Mutation_p.T49I|CCDC151_ENST00000586836.1_Intron|CCDC151_ENST00000545100.1_Intron	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	49										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						ACGGCCTGGGGTCCACGCCTG	0.607000											OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	59					0	0	1	0	0
POLA2	23649	broad.mit.edu	37	11	65034096	65034096	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr11:65034096G>A	ENST00000265465.3	+	2	654	c.123G>A	c.(121-123)atG>atA	p.M41I	POLA2_ENST00000541089.1_Intron	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	41					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	AGGAGGGAATGGTAGGCGAGC	0.418000													6	38					0	0	1	0	0
RNASEH1	246243	broad.mit.edu	37	2	3604433	3604433	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:3604433C>G	ENST00000315212.3	-	2	545	c.190G>C	c.(190-192)Gag>Cag	p.E64Q		NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	64					RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		GCCTCATCCTCTGTGGCAAAC	0.468000													11	37					0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50145735	50145735	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr3:50145735C>G	ENST00000347869.3	+	14	1365	c.1190C>G	c.(1189-1191)tCa>tGa	p.S397*	RBM5_ENST00000441812.2_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	397	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCATCTGCATCAGGTAGTAAA	0.368000													12	75					0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39086802	39086802	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr9:39086802C>T	ENST00000297668.6	-	20	3338	c.3265G>A	c.(3265-3267)Gat>Aat	p.D1089N	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.D1001N|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.D1008N	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	1089	Laminin G-like 4.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTAAATGCATCAGGATTTTGA	0.338000													9	38					0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17288835	17288835	+	Silent	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr22:17288835G>C	ENST00000331428.5	-	2	231	c.129C>G	c.(127-129)ctC>ctG	p.L43L		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	43						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CACCACAGTAGAGAACAGTTG	0.378000													7	41					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318173	30318173	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr10:30318173G>A	ENST00000375377.1	-	3	1005	c.904C>T	c.(904-906)Cag>Tag	p.Q302*		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	302	Pro-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTAGACTGCTGGTGCGAGCTG	0.592000													4	116					0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114793396	114793396	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr12:114793396G>A	ENST00000310346.4	-	9	2164	c.1498C>T	c.(1498-1500)Cat>Tat	p.H500Y	TBX5_ENST00000405440.2_Missense_Mutation_p.H500Y|TBX5_ENST00000349716.5_Missense_Mutation_p.H450Y	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	500				PRTLSPHQYHSVHGVGMVPEWSDNS -> QGLYPLISTTLC TELAWCRVERQ (in Ref. 1; CAA70592).	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TGGTACTGATGAGGGGATAGA	0.567000													3	24					0	0	1	0	0
OXGR1	27199	broad.mit.edu	37	13	97639260	97639260	+	Missense_Mutation	SNP	C	C	T	rs144457939		TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr13:97639260C>T	ENST00000298440.1	-	4	997	c.754G>A	c.(754-756)Gta>Ata	p.V252I	OXGR1_ENST00000543457.1_Missense_Mutation_p.V252I	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	252						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.V252L(2)|p.V252I(1)		NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			AAAAAACATACGTAAAATGCA	0.438000													29	57					0	0	1	0	0
TMEM179	388021	broad.mit.edu	37	14	105061493	105061493	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr14:105061493G>A	ENST00000341595.3	-	3	1436	c.531C>T	c.(529-531)ggC>ggT	p.G177G	TMEM179_ENST00000556573.1_Intron	NM_207379.1	NP_997262.1	Q6ZVK1	T179A_HUMAN	transmembrane protein 179	0						integral to membrane				endometrium(1)|lung(2)|skin(1)	4			all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.129)		CTTGCCCAGAGCCCCCTACCT	0.582000													17	15					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369795	86369795	+	Silent	SNP	T	T	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr13:86369795T>C	ENST00000400286.2	-	2	1447	c.849A>G	c.(847-849)ttA>ttG	p.L283L		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	283						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTGCCAGATGTAATGATCCTG	0.393000													4	115					0	0	1	0	0
ITPK1	3705	broad.mit.edu	37	14	93412805	93412805	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr14:93412805T>G	ENST00000267615.6	-	10	945	c.772A>C	c.(772-774)Agc>Cgc	p.S258R	ITPK1_ENST00000555495.1_Missense_Mutation_p.S139R|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000556603.2_Missense_Mutation_p.S258R|ITPK1_ENST00000354313.3_Missense_Mutation_p.S258R			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	258	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		ACCTCGTCGCTCGGCCGCTCG	0.622000													4	29					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95688112	95688112	+	Splice_Site	SNP	C	C	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr14:95688112C>A	ENST00000298912.4	-	4	354		c.e4-1			NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)							integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		ATTCGTGCAGCTATAAAACAG	0.418000													4	38					5.9392e-07	6.32654e-07	1	1	0
DEPDC5	9681	broad.mit.edu	37	22	32194592	32194592	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr22:32194592C>G	ENST00000400246.1	+	14	1038	c.896C>G	c.(895-897)tCt>tGt	p.S299C	DEPDC5_ENST00000536766.1_Missense_Mutation_p.S271C|DEPDC5_ENST00000382112.3_Missense_Mutation_p.S299C|DEPDC5_ENST00000400248.2_Missense_Mutation_p.S299C|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S299C|DEPDC5_ENST00000382105.2_Missense_Mutation_p.S299C|DEPDC5_ENST00000535622.1_Missense_Mutation_p.S299C|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S299C|DEPDC5_ENST00000400249.2_Missense_Mutation_p.S299C|DEPDC5_ENST00000400242.3_Missense_Mutation_p.S299C			O75140	DEPD5_HUMAN	DEP domain containing 5	299					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GGAGATAATTCTACCTCAGCA	0.413000													79	71					0	0	1	0	0
FMNL1	752	broad.mit.edu	37	17	43309808	43309808	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr17:43309808C>T	ENST00000331495.3	+	3	624	c.288C>T	c.(286-288)gtC>gtT	p.V96V	FMNL1_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Silent_p.V96V	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	96	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CTGGTGGGGTCAGCCGAAAGG	0.547000													10	27					0	0	1	0	0
ARRDC5	645432	broad.mit.edu	37	19	4891334	4891334	+	Silent	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:4891334C>G	ENST00000381781.2	-	3	752	c.753G>C	c.(751-753)ctG>ctC	p.L251L		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	251					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		CCTCCTGCCTCAGAAGCTCGC	0.622000													6	25					0	0	1	0	0
TPCN1	53373	broad.mit.edu	37	12	113730780	113730780	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr12:113730780G>A	ENST00000550785.1	+	27	2540	c.2371G>A	c.(2371-2373)Gag>Aag	p.E791K	TPCN1_ENST00000541517.1_Missense_Mutation_p.E791K|TPCN1_ENST00000335509.6_Missense_Mutation_p.E719K|TPCN1_ENST00000392569.4_Missense_Mutation_p.E651K	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	719						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CTCCAAAGAAGAGCTGGTTGC	0.622000													7	38					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77171360	77171360	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr18:77171360C>T	ENST00000253506.5	+	2	1454	c.1085C>T	c.(1084-1086)cCc>cTc	p.P362L	NFATC1_ENST00000318065.5_Missense_Mutation_p.P349L|NFATC1_ENST00000587635.1_Missense_Mutation_p.P362L|NFATC1_ENST00000542384.1_Missense_Mutation_p.P362L|NFATC1_ENST00000591814.1_Missense_Mutation_p.P362L|NFATC1_ENST00000329101.4_Missense_Mutation_p.P349L|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000427363.2_Missense_Mutation_p.P362L|NFATC1_ENST00000586434.1_Missense_Mutation_p.P349L|NFATC1_ENST00000592223.1_Missense_Mutation_p.P349L|NFATC1_ENST00000397790.2_Intron	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	362					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		AGCCCCCCGCCCCCGGCCGAC	0.692000													6	12					0	0	1	0	0
MTHFD1	4522	broad.mit.edu	37	14	64877852	64877852	+	Silent	SNP	G	G	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr14:64877852G>T	ENST00000545908.1	+	3	568	c.339G>T	c.(337-339)ctG>ctT	p.L113L	MTHFD1_ENST00000216605.8_Silent_p.L57L			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	57	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	ATGTGAAGCTGAAGGCTGCTG	0.463000													8	41					0.00448238	0.00451308	1	1	0
HIF3A	64344	broad.mit.edu	37	19	46807222	46807222	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:46807222G>A	ENST00000377670.4	+	2	125	c.94G>A	c.(94-96)Gag>Aag	p.E32K	HIF3A_ENST00000244303.6_Silent_p.P11P|HIF3A_ENST00000600383.1_Silent_p.P11P|HIF3A_ENST00000420102.2_Silent_p.P29P|HIF3A_ENST00000472815.1_Silent_p.P11P|HIF3A_ENST00000300862.3_Missense_Mutation_p.E30K|HIF3A_ENST00000339613.2_5'UTR	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	32	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCAGGAGACCGAGGTGCTGTA	0.672000													5	16					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66217176	66217176	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr4:66217176C>T	ENST00000273854.3	-	14	3039	c.2439G>A	c.(2437-2439)gtG>gtA	p.V813V	EPHA5_ENST00000511294.1_Silent_p.V814V|EPHA5_ENST00000354839.4_Silent_p.V791V|EPHA5_ENST00000432638.2_Silent_p.V650V	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	813	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ACACTTTGCACACAAGGTTAC	0.458000										TSP Lung(17;0.13)			11	43					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165584631	165584631	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:165584631T>G	ENST00000375458.2	-	4	730	c.509A>C	c.(508-510)cAa>cCa	p.Q170P	COBLL1_ENST00000342193.4_Missense_Mutation_p.Q170P|COBLL1_ENST00000409184.3_Missense_Mutation_p.Q208P|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000392717.2_Missense_Mutation_p.Q208P|COBLL1_ENST00000194871.6_Missense_Mutation_p.Q223P	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	208										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GGCAAGCTCTTGAAGCGATGC	0.378000													18	51					0	0	1	0	0
FAM118B	79607	broad.mit.edu	37	11	126120475	126120475	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr11:126120475G>A	ENST00000533050.1	+	5	907	c.414G>A	c.(412-414)atG>atA	p.M138I	FAM118B_ENST00000360194.4_Missense_Mutation_p.M138I|FAM118B_ENST00000529731.1_Intron|FAM118B_ENST00000525728.1_3'UTR	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	138										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		AGTCAAAGATGGAAGATTCTG	0.373000													4	53					0	0	1	0	0
LNX2	222484	broad.mit.edu	37	13	28124599	28124599	+	Nonsense_Mutation	SNP	A	A	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr13:28124599A>T	ENST00000316334.3	-	9	1937	c.1808T>A	c.(1807-1809)tTa>tAa	p.L603*		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	603	PDZ 4.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		ACTTCTTCGTAAAACTATATC	0.348000													14	41					0	0	1	0	0
TTC1	7265	broad.mit.edu	37	5	159437854	159437854	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr5:159437854G>A	ENST00000231238.5	+	2	429	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	TTC1_ENST00000522793.1_Missense_Mutation_p.E107K	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	107					protein folding		unfolded protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		CATGTCGGATGAAGAGAAACA	0.378000													3	16					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5568978	5568978	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr7:5568978C>G	ENST00000331789.5	-	3	368	c.177G>C	c.(175-177)caG>caC	p.Q59H		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	59					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CTCTCTTGCTCTGGGCCTCGT	0.592000													12	44					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196762438	196762438	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:196762438C>A	ENST00000312428.6	-	29	4700	c.4600G>T	c.(4600-4602)Gat>Tat	p.D1534Y		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1534					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						AGATTTACATCAATGATAGAT	0.289000													14	41					2.23348e-06	2.35076e-06	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140348112	140348112	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr5:140348112G>A	ENST00000289269.5	+	1	2293	c.1761G>A	c.(1759-1761)tcG>tcA	p.S587S	PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		587					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACCAACTCGTCAGCAGCCT	0.542000													8	16					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73041822	73041822	+	RNA	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chrX:73041822G>A	ENST00000604411.1	+	0	29783				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TGCGTTATCTGAGGATTGTTT	0.343000													6	7					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4839058	4839058	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr7:4839058G>A	ENST00000399583.3	-	15	3366	c.3179C>T	c.(3178-3180)tCc>tTc	p.S1060F	RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Missense_Mutation_p.S820F	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	1060	PDZ.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TTCCACGTCGGACTTCGCGAC	0.647000													4	66					0	0	1	0	0
EDN3	1908	broad.mit.edu	37	20	57876610	57876610	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr20:57876610G>A	ENST00000311585.7	+	2	568	c.198G>A	c.(196-198)gtG>gtA	p.V66V	EDN3_ENST00000371025.3_Silent_p.V66V|EDN3_ENST00000337938.2_Silent_p.V66V|EDN3_ENST00000395654.3_Silent_p.V66V|EDN3_ENST00000371028.2_Silent_p.V66V	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	66					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					AGGGGACTGTGGCCCCGACAG	0.701000													13	26					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141459333	141459333	+	Silent	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:141459333G>C	ENST00000389484.3	-	40	7355	c.6384C>G	c.(6382-6384)gtC>gtG	p.V2128V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2128					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCTTCAGGTTGACTCCAAGGC	0.403000										TSP Lung(27;0.18)			8	65					0	0	1	0	0
NDUFB9	4715	broad.mit.edu	37	8	125555400	125555400	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr8:125555400G>A	ENST00000522532.1	+	2	221	c.174G>A	c.(172-174)gcG>gcA	p.A58A	NDUFB9_ENST00000517367.1_Silent_p.A47A|NDUFB9_ENST00000276689.3_Silent_p.A58A|NDUFB9_ENST00000518008.1_Silent_p.A58A			Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	58					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	AGGATATGGCGAAGGCCACCC	0.468000													10	74					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17746919	17746919	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:17746919C>G	ENST00000428389.2	-	27	3392	c.3393G>C	c.(3391-3393)aaG>aaC	p.K1131N	UNC13A_ENST00000551649.1_Missense_Mutation_p.K1043N|UNC13A_ENST00000550896.1_Missense_Mutation_p.K1041N|UNC13A_ENST00000519716.2_Missense_Mutation_p.K1043N|UNC13A_ENST00000552293.1_Missense_Mutation_p.K1043N|UNC13A_ENST00000252773.7_Missense_Mutation_p.K1043N			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1043	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGTCGAGGTTCTTGATGCTGG	0.527000													5	9					0	0	1	0	0
SPRY2	10253	broad.mit.edu	37	13	80911692	80911692	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr13:80911692C>T	ENST00000377102.1	-	2	1126	c.149G>A	c.(148-150)cGa>cAa	p.R50Q	SPRY2_ENST00000540649.1_Missense_Mutation_p.R50Q|SPRY2_ENST00000377104.3_Missense_Mutation_p.R50Q			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	50					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		ATTGGTGTTTCGGATGGCTCT	0.612000													13	48					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94486156	94486156	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr9:94486156C>T	ENST00000375708.3	-	9	2818	c.2620G>A	c.(2620-2622)Gtc>Atc	p.V874I	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	874	Ser/Thr-rich.				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			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						GCCGTGGTGACGTAGCCTGTG	0.642000													16	65					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40902031	40902031	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:40902031G>T	ENST00000324001.7	-	7	2498	c.2228C>A	c.(2227-2229)cCc>cAc	p.P743H	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	743	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			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)			CTGCACCTCGGGGAGGTGCAC	0.567000													22	170					4.35082e-09	4.74928e-09	1	1	0
RANBP2	5903	broad.mit.edu	37	2	109347808	109347808	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:109347808G>A	ENST00000283195.6	+	4	409	c.283G>A	c.(283-285)Gat>Aat	p.D95N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	95					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AACACAAAAAGATCTTGTGTT	0.318000													11	78					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32635142	32635142	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr9:32635142C>T	ENST00000242310.4	-	1	525	c.436G>A	c.(436-438)Gat>Aat	p.D146N	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	146					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTTCACAATCAGCATCATAG	0.488000													19	88					0	0	1	0	0
PDLIM3	27295	broad.mit.edu	37	4	186423602	186423602	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr4:186423602T>G	ENST00000284770.5	-	8	1014	c.941A>C	c.(940-942)cAc>cCc	p.H314P	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Missense_Mutation_p.H266P	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	314	LIM zinc-binding.					sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		GCACTCAGGGTGCCGGTACTT	0.517000													6	93					0	0	1	0	0
ZNF572	137209	broad.mit.edu	37	8	125989664	125989664	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr8:125989664G>C	ENST00000319286.5	+	3	1308	c.1154G>C	c.(1153-1155)aGa>aCa	p.R385T		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AAACCATATAGATGTTGTGAA	0.408000										HNSCC(60;0.17)			23	44					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135272735	135272735	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr7:135272735C>T	ENST00000285968.6	+	10	1494	c.1468C>T	c.(1468-1470)Cgc>Tgc	p.R490C	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	490					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GCCCCCTCAACGCCAGGTGAG	0.448000													6	35					0	0	1	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117969812	117969812	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr11:117969812C>T	ENST00000534111.1	+	3	415	c.150C>T	c.(148-150)ctC>ctT	p.L50L	TMPRSS4_ENST00000437212.3_Splice_Site_p.L52L|TMPRSS4_ENST00000523251.1_Intron|TMPRSS4_ENST00000522824.1_Splice_Site_p.L52L|TMPRSS4_ENST00000522307.1_Intron	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022|NP_063947.1	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	52					proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TGGTTGTCCTCAGTAAGTGAC	0.557000													11	34					0	0	1	0	0
ACSM3	6296	broad.mit.edu	37	16	20808288	20808288	+	Silent	SNP	A	A	T	rs139314236		TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr16:20808288A>T	ENST00000289416.5	+	14	2230	c.1755A>T	c.(1753-1755)acA>acT	p.T585T	ACSM3_ENST00000450120.2_Silent_p.T577T|ERI2_ENST00000569729.1_3'UTR|ERI2_ENST00000357967.4_3'UTR|ERI2_ENST00000564349.1_3'UTR|ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000567387.1_3'UTR	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	585					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						AATGGAAGACAATTTAAAGTT	0.353000													13	32					0	0	1	0	0
IZUMO1	284359	broad.mit.edu	37	19	49244278	49244278	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:49244278G>A	ENST00000332955.2	-	10	1487	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	314					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TTCCTTCGACGAAATATCCTA	0.532000													19	53					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50133356	50133356	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr20:50133356G>A	ENST00000371564.3	-	3	1518	c.1299C>T	c.(1297-1299)gtC>gtT	p.V433V	NFATC2_ENST00000609943.1_Silent_p.V413V|NFATC2_ENST00000414705.1_Silent_p.V413V|NFATC2_ENST00000396009.3_Silent_p.V433V|NFATC2_ENST00000609507.1_Silent_p.V214V|NFATC2_ENST00000610033.1_Silent_p.V214V	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	433	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TTGGAGCTTTGACAGCCCCTC	0.557000													15	45					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98846517	98846517	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:98846517C>G	ENST00000477737.1	+	16	2359	c.2155C>G	c.(2155-2157)Caa>Gaa	p.Q719E		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	719										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAACAGGCATCAAAAGGAAAT	0.353000													14	50					0	0	1	0	0
PODXL2	50512	broad.mit.edu	37	3	127358114	127358114	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr3:127358114G>A	ENST00000342480.6	+	2	136	c.97G>A	c.(97-99)Ggg>Agg	p.G33R		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	33					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CTGTGTGGCTGGGTCTGATGA	0.597000													3	48					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69666612	69666612	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr6:69666612T>C	ENST00000370598.1	+	8	2257	c.1436T>C	c.(1435-1437)aTa>aCa	p.I479T		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	479	TSP type-1 4.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAAAGGCGAATAAGGACCTGT	0.498000													5	51					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10100025	10100025	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:10100025C>T	ENST00000264828.3	-	26	2149	c.2064G>A	c.(2062-2064)gaG>gaA	p.E688E		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	688	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCGTGGGGCCCTCATGTCCTG	0.587000													9	36					0	0	1	0	0
BARD1	580	broad.mit.edu	37	2	215674209	215674209	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:215674209C>A	ENST00000260947.4	-	1	219	c.85G>T	c.(85-87)Gat>Tat	p.D29Y	BARD1_ENST00000449967.2_5'UTR|BARD1_ENST00000471787.1_5'UTR	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	29	Interaction with BRCA1.				cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCGCGACCATCCGGTTCCATG	0.692000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				4	21					0.00024832	0.000254672	1	1	0
CYP4F22	126410	broad.mit.edu	37	19	15659956	15659956	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:15659956C>G	ENST00000269703.3	+	12	1477	c.1278C>G	c.(1276-1278)atC>atG	p.I426M	CYP4F22_ENST00000601005.2_Missense_Mutation_p.I426M	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22							endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CAGGAATCATCTGCTTGGTCA	0.597000													20	21					0	0	1	0	0
FZD6	8323	broad.mit.edu	37	8	104330971	104330971	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr8:104330971G>A	ENST00000358755.4	+	3	648	c.331G>A	c.(331-333)Gac>Aac	p.D111N	FZD6_ENST00000523739.1_Missense_Mutation_p.D79N|FZD6_ENST00000522566.1_Missense_Mutation_p.D111N|FZD6_ENST00000540287.1_Intron	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	111	FZ.				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AAAATTAATTGACACTTTTGG	0.378000													9	57					0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203036873	203036873	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:203036873G>A	ENST00000367240.2	+	25	3565	c.3038G>A	c.(3037-3039)cGg>cAg	p.R1013Q	PPFIA4_ENST00000599966.1_Missense_Mutation_p.R519Q|PPFIA4_ENST00000447715.2_Missense_Mutation_p.R1012Q|PPFIA4_ENST00000414050.2_Missense_Mutation_p.R741Q|PPFIA4_ENST00000295706.4_Missense_Mutation_p.R519Q|PPFIA4_ENST00000272198.6_Missense_Mutation_p.R528Q			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	528					cell communication	cell surface|cytoplasm	protein binding			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						AATTATGACCGGAAGGAGCTG	0.582000													3	41					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62903534	62903534	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr4:62903534C>G	ENST00000512091.2	+	23	4220	c.3473C>G	c.(3472-3474)tCt>tGt	p.S1158C	LPHN3_ENST00000545650.1_Missense_Mutation_p.S1158C|LPHN3_ENST00000507625.1_Missense_Mutation_p.S1217C|LPHN3_ENST00000514591.1_Missense_Mutation_p.S1158C|LPHN3_ENST00000508946.1_Missense_Mutation_p.S1158C|LPHN3_ENST00000514157.1_Missense_Mutation_p.S1149C|LPHN3_ENST00000506700.1_Missense_Mutation_p.S1149C|LPHN3_ENST00000504896.1_Missense_Mutation_p.S1158C|LPHN3_ENST00000511324.1_Missense_Mutation_p.S1217C|LPHN3_ENST00000508693.1_Missense_Mutation_p.S1226C|LPHN3_ENST00000506720.1_Missense_Mutation_p.S1226C|LPHN3_ENST00000507164.1_Missense_Mutation_p.S1217C|LPHN3_ENST00000509896.1_Missense_Mutation_p.S1226C|LPHN3_ENST00000514996.1_Missense_Mutation_p.S1149C|LPHN3_ENST00000506746.1_Missense_Mutation_p.S1217C			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GGGAAAACATCTGGTTCTCGA	0.413000													18	21					0	0	1	0	0
AMER2	219287	broad.mit.edu	37	13	25744249	25744249	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr13:25744249C>T	ENST00000357816.2	-	3	1627	c.1152G>A	c.(1150-1152)aaG>aaA	p.K384K	AMER2_ENST00000381853.3_Silent_p.K384K|AMER2_ENST00000515384.1_Silent_p.K503K					APC membrane recruitment protein 2																		TGGGCTCCTCCTTAGGATGGG	0.647000													20	70					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196964925	196964925	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:196964925A>G	ENST00000367414.5	+	5	814	c.758A>G	c.(757-759)cAc>cGc	p.H253R	CFHR5_ENST00000256785.4_Missense_Mutation_p.H229R	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	229	Sushi 4.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GAATATGGACACAATGAAGTA	0.363000													10	43					0	0	1	0	0
ZNF574	64763	broad.mit.edu	37	19	42582868	42582868	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:42582868C>A	ENST00000600245.1	+	2	765	c.110C>A	c.(109-111)tCc>tAc	p.S37Y	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Missense_Mutation_p.S37Y|ZNF574_ENST00000222339.7_Missense_Mutation_p.S127Y			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CACCAAAACTCCCACGTGCCC	0.562000													21	62					1.87028e-06	1.97792e-06	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55582378	55582378	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr10:55582378G>A	ENST00000361849.3	-	34	5508	c.5114C>T	c.(5113-5115)tCa>tTa	p.S1705L	PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.S1703L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1663L|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1700L|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1680L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1634L|PCDH15_ENST00000395445.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1703					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACAAGGCCTTGAAGGAGAAAG	0.383000										HNSCC(58;0.16)			18	36					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004010	74004010	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr17:74004010G>C	ENST00000301607.3	-	22	5529	c.5276C>G	c.(5275-5277)tCt>tGt	p.S1759C	EVPL_ENST00000586740.1_Missense_Mutation_p.S1781C	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1759	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTCCTCCTTAGAGATGCGCCG	0.632000													3	36					0	0	1	0	0
FUT2	2524	broad.mit.edu	37	19	49206737	49206737	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:49206737G>A	ENST00000425340.2	+	2	641	c.524G>A	c.(523-525)cGg>cAg	p.R175Q	FUT2_ENST00000391876.4_Missense_Mutation_p.R175Q	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	175					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		GACCACGTGCGGGAGGAGGCC	0.657000													9	38					0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543346	182543346	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:182543346G>A	ENST00000295108.3	-	2	699	c.242C>T	c.(241-243)cCc>cTc	p.P81L	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	81					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GCGTCTCTTGGGCTTTTGATC	0.557000													5	35					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197073129	197073129	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:197073129T>C	ENST00000367409.4	-	18	5508	c.5252A>G	c.(5251-5253)cAa>cGa	p.Q1751R	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1751	IQ 6.|IQ 7.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGCTTTTCTTTGTAACCTCAT	0.368000													38	93					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99481911	99481911	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr13:99481911C>T	ENST00000376460.1	-	42	4746	c.4666G>A	c.(4666-4668)Gac>Aac	p.D1556N	DOCK9_ENST00000448493.2_3'UTR|DOCK9_ENST00000339416.2_Missense_Mutation_p.D1557N	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1557	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ATAAGCCGGTCACTGTTGGCA	0.527000													3	7					0	0	1	0	0
GZMB	3002	broad.mit.edu	37	14	25100311	25100311	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr14:25100311A>T	ENST00000216341.4	-	5	816	c.710T>A	c.(709-711)gTa>gAa	p.V237E	GZMB_ENST00000382540.1_Missense_Mutation_p.V192E|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382542.1_Missense_Mutation_p.V271E|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000415355.3_Missense_Mutation_p.V225E			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	237	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		TATCCAGTGTACAAAGCTTGA	0.493000													21	74					0	0	1	0	0
C1QTNF3-AMACR	100534612	broad.mit.edu	37	5	34024093	34024093	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr5:34024093T>C	ENST00000382079.3	-	5	528	c.454A>G	c.(454-456)Agc>Ggc	p.S152G	C1QTNF3_ENST00000513065.1_5'UTR|C1QTNF3_ENST00000231338.7_Missense_Mutation_p.S168G|C1QTNF3_ENST00000382065.3_Missense_Mutation_p.S241G						168																	TTCATCATGCTGAAGGTGAAG	0.408000													17	41					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108381641	108381641	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr11:108381641C>G	ENST00000265843.4	-	6	4703	c.4593G>C	c.(4591-4593)gaG>gaC	p.E1531D	EXPH5_ENST00000443411.1_Missense_Mutation_p.E1343D|EXPH5_ENST00000525344.1_Missense_Mutation_p.E1524D|EXPH5_ENST00000428840.1_Missense_Mutation_p.E1455D	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1531					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ACTGCAGACTCTCTAAGTTTG	0.448000													5	30					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56091767	56091767	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr12:56091767G>T	ENST00000257880.7	-	9	1587	c.1368C>A	c.(1366-1368)ttC>ttA	p.F456L	ITGA7_ENST00000452168.2_Missense_Mutation_p.F319L|ITGA7_ENST00000553804.1_Missense_Mutation_p.F416L|ITGA7_ENST00000394230.2_Missense_Mutation_p.F416L|ITGA7_ENST00000347027.6_Missense_Mutation_p.F412L|ITGA7_ENST00000394229.2_Missense_Mutation_p.F412L|ITGA7_ENST00000555728.1_Missense_Mutation_p.F456L|ITGA7_ENST00000257879.6_Missense_Mutation_p.F412L			Q13683	ITA7_HUMAN	integrin, alpha 7	456					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CATGGTAGATGAAGACTTTCC	0.582000													17	136					3.41278e-10	3.74387e-10	1	1	0
TMIGD2	126259	broad.mit.edu	37	19	4298317	4298317	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:4298317G>C	ENST00000301272.2	-	2	117	c.72C>G	c.(70-72)agC>agG	p.S24R	TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000595645.1_Missense_Mutation_p.S24R|TMIGD2_ENST00000600114.1_Intron	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	24	Ig-like.					integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGCTGCACGCTCAGGCTTG	0.622000													4	13					0	0	1	0	0
PGLYRP1	8993	broad.mit.edu	37	19	46522611	46522611	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:46522611C>T	ENST00000008938.4	-	3	519	c.476G>A	c.(475-477)gGa>gAa	p.G159E	CCDC61_ENST00000601763.1_Intron	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	159					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		CCTCAGGGCTCCCTGAGCCAC	0.632000													7	43					0	0	1	0	0
AGAP5	729092	broad.mit.edu	37	10	75457466	75457466	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr10:75457466C>T	ENST00000443782.2	-	1	173	c.48G>A	c.(46-48)gaG>gaA	p.E16E	RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000374094.4_Silent_p.E16E			A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	16					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						GCTGGTCAAACTCGAGGCTGA	0.602000													6	45					0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67925492	67925492	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr11:67925492G>C	ENST00000304363.4	-	11	2674	c.2321C>G	c.(2320-2322)tCt>tGt	p.S774C		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	774					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TAATTTTGTAGAACTACTGCC	0.383000													34	100					0	0	1	0	0
ALAS1	211	broad.mit.edu	37	3	52245381	52245381	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr3:52245381C>A	ENST00000394965.2	+	10	1773	c.1413C>A	c.(1411-1413)ttC>ttA	p.F471L	ALAS1_ENST00000484952.1_Missense_Mutation_p.F471L|ALAS1_ENST00000310271.2_Missense_Mutation_p.F471L|ALAS1_ENST00000469224.1_Missense_Mutation_p.F471L	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	471					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CTGCTGGCTTCATCTTCACCA	0.597000													8	20					1.06961e-07	1.1533e-07	1	1	0
PALB2	79728	broad.mit.edu	37	16	23641335	23641335	+	Missense_Mutation	SNP	C	C	T	rs45537237		TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr16:23641335C>T	ENST00000261584.4	-	5	2292	c.2140G>A	c.(2140-2142)Gat>Aat	p.D714N		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	714					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TCATTATCATCAGGCGCAACC	0.453000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					20	93					0	0	1	0	0
C6orf58	352999	broad.mit.edu	37	6	127901424	127901424	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr6:127901424C>A	ENST00000329722.7	+	3	415	c.403C>A	c.(403-405)Ctg>Atg	p.L135M		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	135						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		GAATTATTTTCTGTCTTCATT	0.358000													6	37					0.00116845	0.00118456	1	1	0
PTGS1	5742	broad.mit.edu	37	9	125140275	125140275	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr9:125140275C>T	ENST00000362012.2	+	3	197	c.192C>T	c.(190-192)tcC>tcT	p.S64S	PTGS1_ENST00000373698.5_5'UTR|PTGS1_ENST00000540753.1_Silent_p.S39S|PTGS1_ENST00000223423.4_Silent_p.S64S	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	64	EGF-like.				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CGGGCTATTCCGGCCCCAACT	0.607000													4	43					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24397660	24397660	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:24397660G>C	ENST00000330966.7	-	25	3262	c.3100C>G	c.(3100-3102)Cca>Gca	p.P1034A	MYOM3_ENST00000329601.7_Missense_Mutation_p.P1033A|RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.P1033A			Q5VTT5	MYOM3_HUMAN	myomesin 3	1033										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCAGCGGCTGGAGATAACTTT	0.552000											OREG0013235	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	29					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004948	74004948	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr17:74004948G>C	ENST00000301607.3	-	22	4591	c.4338C>G	c.(4336-4338)atC>atG	p.I1446M	EVPL_ENST00000586740.1_Missense_Mutation_p.I1468M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1446	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CGAGCTCCTGGATCCTCAAGG	0.642000													8	102					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14040913	14040913	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:14040913G>A	ENST00000318003.7	+	27	2974	c.2733G>A	c.(2731-2733)cgG>cgA	p.R911R	CC2D1A_ENST00000589606.1_Silent_p.R910R	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	911					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AGCTGGAGCGGCAGCTGCAGT	0.687000													5	17					0	0	1	0	0
ZNF791	163049	broad.mit.edu	37	19	12740056	12740056	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:12740056G>C	ENST00000343325.4	+	4	1875	c.1713G>C	c.(1711-1713)atG>atC	p.M571I	ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Missense_Mutation_p.M462I|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.M539I	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	571					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AAAAACATATGAGAATGCACA	0.338000													9	58					0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45928970	45928970	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr22:45928970G>A	ENST00000348697.2	+	6	719	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	FBLN1_ENST00000442170.2_Missense_Mutation_p.R191Q|FBLN1_ENST00000402984.3_Missense_Mutation_p.R229Q|FBLN1_ENST00000327858.6_Missense_Mutation_p.R191Q|FBLN1_ENST00000340923.5_Missense_Mutation_p.R191Q|FBLN1_ENST00000262722.7_Missense_Mutation_p.R191Q			P23142	FBLN1_HUMAN	fibulin 1	191	EGF-like 1.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CAGCAGTGCCGAGACACGGGT	0.627000													7	41					0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46607645	46607645	+	Missense_Mutation	SNP	G	G	A	rs142445582		TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:46607645G>A	ENST00000263734.3	+	12	2344	c.1834G>A	c.(1834-1836)Gga>Aga	p.G612R		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	612					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTTTGATGCCGGAAGCAAAGC	0.607000													4	85					0	0	1	0	0
UQCRC2	7385	broad.mit.edu	37	16	21968618	21968618	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr16:21968618G>A	ENST00000268379.4	+	2	860	c.96G>A	c.(94-96)ccG>ccA	p.P32P	UQCRC2_ENST00000561553.1_Silent_p.P32P	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	32					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		CAGGAGCACCGCCACAACCTC	0.448000													6	28					0	0	1	0	0
C1orf35	79169	broad.mit.edu	37	1	228289066	228289066	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:228289066G>A	ENST00000272139.4	-	7	876	c.642C>T	c.(640-642)gcC>gcT	p.A214A	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	214										large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				GAGAGGAGGTGGCCTCAGCTG	0.522000													4	11					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825760	4825760	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr11:4825760C>T	ENST00000380382.1	-	1	87	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGAATAATTTCAACTGTTTTA	0.299000													10	45					0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	120995453	120995453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr12:120995453G>A	ENST00000325954.4	+	6	1396	c.935G>A	c.(934-936)tGg>tAg	p.W312*	RNF10_ENST00000413266.2_Nonsense_Mutation_p.W312*	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	312					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAATCCAAATGGATGAATGTA	0.413000													29	72					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57088911	57088911	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:57088911G>C	ENST00000330619.8	+	6	1800	c.1114G>C	c.(1114-1116)Gac>Cac	p.D372H	ZNF470_ENST00000391709.3_Missense_Mutation_p.D372H|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGAATGTATTGACTGTGGGAA	0.423000													25	29					0	0	1	0	0
NEK1	4750	broad.mit.edu	37	4	170459006	170459006	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr4:170459006C>A	ENST00000439128.2	-	18	2259	c.1619G>T	c.(1618-1620)cGa>cTa	p.R540L	NEK1_ENST00000510533.1_Missense_Mutation_p.R496L|NEK1_ENST00000507142.1_Missense_Mutation_p.R540L|NEK1_ENST00000512193.1_Missense_Mutation_p.R471L|NEK1_ENST00000511633.1_Missense_Mutation_p.R496L	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	540					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R540Q(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TTCCCGTTTTCGCTGCAGGAA	0.393000													34	161					1.57351e-24	1.75232e-24	1	1	0
IL20RB	53833	broad.mit.edu	37	3	136714356	136714356	+	Silent	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr3:136714356C>G	ENST00000329582.4	+	6	1032	c.783C>G	c.(781-783)ctC>ctG	p.L261L	IL20RB_ENST00000309741.5_3'UTR	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	261						integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						GCCGGCTGCTCCAGTACTCCT	0.527000													27	191					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86201800	86201800	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr15:86201800G>A	ENST00000394518.2	+	12	4873	c.4778G>A	c.(4777-4779)aGa>aAa	p.R1593K	RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Intron	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1593					apoptosis|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|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GTTGTCAGGAGACCTCCCATT	0.413000													14	75					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30531205	30531205	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr16:30531205G>A	ENST00000356798.6	+	30	3436	c.3256G>A	c.(3256-3258)Gag>Aag	p.E1086K	ITGAL_ENST00000358164.5_Missense_Mutation_p.E1002K|ITGAL_ENST00000433423.2_Missense_Mutation_p.E320K	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1086					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CGTGGTGTATGAGAAGCAGAT	0.577000													58	87					0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146231621	146231621	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr6:146231621G>A	ENST00000367503.3	-	25	4888	c.4490C>T	c.(4489-4491)tCa>tTa	p.S1497L	SHPRH_ENST00000275233.7_Missense_Mutation_p.S1493L|SHPRH_ENST00000367505.2_Missense_Mutation_p.S1493L|SHPRH_ENST00000438092.2_Missense_Mutation_p.S1497L	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1493					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGCTTTCTCTGAGGTAAAGAC	0.428000													14	79					0	0	1	0	0
PIP4K2A	5305	broad.mit.edu	37	10	22830862	22830862	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr10:22830862C>T	ENST00000376573.4	-	8	1135	c.907G>A	c.(907-909)Gag>Aag	p.E303K	PIP4K2A_ENST00000545335.1_Missense_Mutation_p.E244K|PIP4K2A_ENST00000323883.7_Missense_Mutation_p.E163K	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	303	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CCATCGCTCTCGCCCTCCTCC	0.602000													38	30					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64536328	64536328	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr12:64536328G>C	ENST00000355086.3	+	22	3658	c.3134G>C	c.(3133-3135)aGa>aCa	p.R1045T	SRGAP1_ENST00000357825.3_Missense_Mutation_p.R1022T|SRGAP1_ENST00000543397.1_Missense_Mutation_p.R982T	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1045					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GTGGCACCCAGAATGGGCGTG	0.557000													12	61					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	167760088	167760088	+	Silent	SNP	T	T	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:167760088T>C	ENST00000409195.1	+	2	185	c.96T>C	c.(94-96)caT>caC	p.H32H	XIRP2_ENST00000409756.2_Silent_p.H32H|XIRP2_ENST00000409043.1_Silent_p.H32H|XIRP2_ENST00000295237.9_Silent_p.H32H|XIRP2_ENST00000420519.1_Silent_p.H32H|XIRP2_ENST00000409728.1_Silent_p.H32H	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGGACAGCCATTGTACAATTT	0.488000													3	31					0	0	1	0	0
AGAP7	653268	broad.mit.edu	37	10	51472588	51472588	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr10:51472588G>A	ENST00000374095.5	-	4	517	c.392C>T	c.(391-393)aCa>aTa	p.T131I		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	131					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CTGGATGGCTGTGCTGTCATC	0.378000													4	154					0	0	1	0	0
C8orf4	56892	broad.mit.edu	37	8	40011207	40011207	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr8:40011207C>T	ENST00000315792.3	+	1	219	c.156C>T	c.(154-156)ttC>ttT	p.F52F		NM_020130.4	NP_064515	Q9NR00	CH004_HUMAN	chromosome 8 open reading frame 4	52					apoptosis					breast(1)|large_intestine(1)|ovary(1)	3	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		AAAGGCTCTTCAGAAACTCTG	0.483000													5	28					0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48688454	48688454	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:48688454G>A	ENST00000236495.5	+	1	96	c.46G>A	c.(46-48)Ggg>Agg	p.G16R	SLC5A9_ENST00000420136.2_Missense_Mutation_p.G9R|SLC5A9_ENST00000533824.1_Missense_Mutation_p.G16R|SLC5A9_ENST00000438567.2_Missense_Mutation_p.G16R	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	16						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						TTCAGGGGACGGGGTCAGGAC	0.562000													6	20					0	0	1	0	0
FUCA2	2519	broad.mit.edu	37	6	143823506	143823506	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr6:143823506C>T	ENST00000002165.6	-	4	1004	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000367585.1_Intron	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma						fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		ACCAATTCTTCAATTGTAAGA	0.393000													10	96					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110592184	110592184	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr8:110592184C>T	ENST00000399066.3	-	4	1296	c.569G>A	c.(568-570)gGc>gAc	p.G190D	SYBU_ENST00000422135.1_Missense_Mutation_p.G193D|SYBU_ENST00000424158.2_Missense_Mutation_p.G198D|SYBU_ENST00000529175.1_5'UTR|SYBU_ENST00000446070.2_Missense_Mutation_p.G192D|SYBU_ENST00000433638.1_Missense_Mutation_p.G193D|SYBU_ENST00000528331.1_Missense_Mutation_p.G74D|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000533171.1_Missense_Mutation_p.G193D|SYBU_ENST00000532779.1_Missense_Mutation_p.G125D|SYBU_ENST00000529690.1_Missense_Mutation_p.G63D|SYBU_ENST00000276646.9_Missense_Mutation_p.G193D|SYBU_ENST00000408889.3_Missense_Mutation_p.G74D|SYBU_ENST00000533895.1_Missense_Mutation_p.G192D|SYBU_ENST00000533065.1_Missense_Mutation_p.G74D|SYBU_ENST00000419099.1_Missense_Mutation_p.G192D|SYBU_ENST00000440310.1_Missense_Mutation_p.G193D|SYBU_ENST00000528647.1_Missense_Mutation_p.G192D|SYBU_ENST00000408908.2_Missense_Mutation_p.G193D	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	193	Ser-rich.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TGGGCTGCTGCCAGGCTTGTG	0.517000													17	181					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390557	197390557	+	Silent	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:197390557G>C	ENST00000367400.3	+	6	1734	c.1599G>C	c.(1597-1599)gtG>gtC	p.V533V	CRB1_ENST00000538660.1_Silent_p.V533V|CRB1_ENST00000544212.1_Silent_p.V14V|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000535699.1_Silent_p.V464V|CRB1_ENST00000367399.2_Silent_p.V421V|CRB1_ENST00000543483.1_Silent_p.V232V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	533	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATGTGTTTGTGAAGCTGGAGC	0.458000													19	69					0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70416325	70416325	+	Splice_Site	SNP	T	T	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr18:70416325T>A	ENST00000327305.6	-	10	2199		c.e10-2		NETO1_ENST00000299430.2_Splice_Site|NETO1_ENST00000583169.1_Splice_Site	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1						memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AGGCAGAACCTGGAATGTTAT	0.333000													9	69					0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184294777	184294777	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr3:184294777C>T	ENST00000330394.2	+	5	1612	c.1160C>T	c.(1159-1161)tCa>tTa	p.S387L	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	387	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GGAGGGGCCTCAGCCTGCTCA	0.642000													12	90					0	0	1	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65226398	65226398	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr15:65226398C>T	ENST00000380230.3	+	9	860	c.831C>T	c.(829-831)ctC>ctT	p.L277L	ANKDD1A_ENST00000395720.1_Silent_p.L277L|ANKDD1A_ENST00000395723.1_Silent_p.L186L|ANKDD1A_ENST00000357698.3_Silent_p.L277L	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	277					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CTCGGGTCCTCATCCACGCAG	0.522000													5	28					0	0	1	0	0
CC2D2A	57545	broad.mit.edu	37	4	15538687	15538687	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr4:15538687G>C	ENST00000424120.1	+	15	2006	c.1752G>C	c.(1750-1752)tgG>tgC	p.W584C	CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000389652.5_Missense_Mutation_p.W535C|CC2D2A_ENST00000503292.1_Missense_Mutation_p.W584C|CC2D2A_ENST00000413206.1_Missense_Mutation_p.W584C			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	584					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GGAAGGCCTGGAGGAAAGTGC	0.498000													3	15					0	0	1	0	0
ZNF93	81931	broad.mit.edu	37	19	20026126	20026126	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:20026126C>G	ENST00000343769.5	+	2	69	c.41C>G	c.(40-42)tCt>tGt	p.S14C	ZNF93_ENST00000592160.1_Missense_Mutation_p.S14C|ZNF93_ENST00000591366.1_Missense_Mutation_p.S14C|AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	14	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						ATAGAATTCTCTCTGGAGGAG	0.423000													43	119					0	0	1	0	0
TTC26	79989	broad.mit.edu	37	7	138853113	138853113	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr7:138853113C>T	ENST00000464848.1	+	11	1055	c.975C>T	c.(973-975)gtC>gtT	p.V325V	TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000343187.4_Silent_p.V294V|TTC26_ENST00000430935.1_Silent_p.V325V|TTC26_ENST00000495038.1_Silent_p.V194V|TTC26_ENST00000478836.2_Silent_p.V218V			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	325							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						AAGGAGTGGTCAATGCAGCCC	0.368000													15	23					0	0	1	0	0
WIBG	84305	broad.mit.edu	37	12	56296112	56296112	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr12:56296112G>C	ENST00000408946.2	-	3	310	c.159C>G	c.(157-159)ttC>ttG	p.F53L	WIBG_ENST00000302533.6_5'UTR|WIBG_ENST00000398213.4_Missense_Mutation_p.F52L|WIBG_ENST00000547925.1_3'UTR|WIBG_ENST00000557259.1_3'UTR	NM_032345.2	NP_115721.1	Q9BRP8	WIBG_HUMAN	within bgcn homolog (Drosophila)	53					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm	protein binding|ribosome binding|RNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GTTTACTCTTGAAAAACTTCA	0.463000													13	58					0	0	1	0	0
RBP2	5948	broad.mit.edu	37	3	139173591	139173591	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr3:139173591C>T	ENST00000232217.2	-	3	390	c.334G>A	c.(334-336)Gag>Aag	p.E112K	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	112					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	TTGTCCCCCTCAATCCACTGC	0.527000													7	70					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834323	61834323	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr10:61834323C>T	ENST00000280772.2	-	37	6507	c.6316G>A	c.(6316-6318)Gat>Aat	p.D2106N	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.D2106N(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAAATAGTATCTGTTCCAAAA	0.413000													6	49					0	0	1	0	0
PPP3CB	5532	broad.mit.edu	37	10	75214202	75214202	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr10:75214202T>A	ENST00000360663.5	-	10	1265	c.1154A>T	c.(1153-1155)gAa>gTa	p.E385V	PPP3CB_ENST00000545874.1_Missense_Mutation_p.E299V|PPP3CB_ENST00000394828.2_Missense_Mutation_p.E385V|PPP3CB_ENST00000394822.2_Missense_Mutation_p.E403V|PPP3CB_ENST00000394829.2_Missense_Mutation_p.E385V|PPP3CB_ENST00000342558.3_Missense_Mutation_p.E385V|PPP3CB_ENST00000544628.1_Missense_Mutation_p.E13V			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	385										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					AGTCATTAGTTCATCATCAGA	0.323000													14	44					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48367985	48367985	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr12:48367985C>T	ENST00000380518.3	-	53	4368	c.4204G>A	c.(4204-4206)Gaa>Aaa	p.E1402K	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.E1333K	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1402	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			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)	CCAGCTGCTTCGTCCAGATAG	0.567000													10	32					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35802469	35802469	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr20:35802469G>A	ENST00000400441.3	-	3	307	c.308C>T	c.(307-309)tCa>tTa	p.S103L	MROH8_ENST00000441008.2_Missense_Mutation_p.S89L|MROH8_ENST00000217333.8_Missense_Mutation_p.S18L					maestro heat-like repeat family member 8																		CACACTTTCTGAATCACTGTC	0.413000													11	15					0	0	1	0	0
MMP19	4327	broad.mit.edu	37	12	56231058	56231058	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr12:56231058G>A	ENST00000394182.1	-	4	430	c.431C>T	c.(430-432)tCg>tTg	p.S144L	MMP19_ENST00000322569.4_Missense_Mutation_p.S430L|MMP19_ENST00000548629.1_Missense_Mutation_p.S407L|MMP19_ENST00000409200.3_3'UTR			Q99542	MMP19_HUMAN	matrix metallopeptidase 19	430					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						CATAGCAGCCGAGGGCTGGTT	0.557000													50	131					0	0	1	0	0
ZNF527	84503	broad.mit.edu	37	19	37879587	37879587	+	Silent	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:37879587C>G	ENST00000436120.2	+	5	743	c.636C>G	c.(634-636)ctC>ctG	p.L212L	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATAAAAGACTCCATGCTGAGA	0.343000													4	72					0	0	1	0	0
IDUA	3425	broad.mit.edu	37	4	998117	998117	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr4:998117C>T	ENST00000453894.1	+	11	2052	c.1964C>T	c.(1963-1965)tCg>tTg	p.S655L	IDUA_ENST00000514224.1_Missense_Mutation_p.S501L|IDUA_ENST00000247933.4_Missense_Mutation_p.S633L			P35475	IDUA_HUMAN	iduronidase, alpha-L-	633					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	GGCCCCTTCTCGGACCCTGTG	0.657000													18	25					0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24745822	24745822	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr7:24745822G>C	ENST00000545231.1	-	10	1822	c.672C>G	c.(670-672)ttC>ttG	p.F224L	DFNA5_ENST00000342947.3_Missense_Mutation_p.F388L|DFNA5_ENST00000409970.1_Missense_Mutation_p.F224L|DFNA5_ENST00000409775.3_Missense_Mutation_p.F388L|DFNA5_ENST00000419307.1_Missense_Mutation_p.F224L			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	388					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CACTGACCAAGAAGTAGGCTG	0.532000													9	54					0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33288586	33288586	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr6:33288586G>A	ENST00000374542.5	-	3	1170	c.966C>T	c.(964-966)atC>atT	p.I322I	DAXX_ENST00000477162.1_Intron|DAXX_ENST00000414083.2_Silent_p.I247I|DAXX_ENST00000266000.6_Silent_p.I322I	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	322					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CCTGTAACCTGATGCCCACAT	0.592000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								18	61					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78343322	78343322	+	Missense_Mutation	SNP	C	C	T	rs142466553		TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr17:78343322C>T	ENST00000582970.1	+	45	12319	c.12176C>T	c.(12175-12177)gCc>gTc	p.A4059V	RNF213_ENST00000508628.2_Missense_Mutation_p.A4108V|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.A2132V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAAAAGCATGCCCGCTTCCGG	0.498000													6	112					0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48626711	48626711	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr17:48626711G>A	ENST00000006658.6	+	7	845	c.725G>A	c.(724-726)cGa>cAa	p.R242Q	SPATA20_ENST00000393244.3_Missense_Mutation_p.R182Q|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000356488.4_Missense_Mutation_p.R226Q	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	226					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CTGCTGGCCCGATCAGAGATC	0.602000													9	40					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189870125	189870125	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:189870125C>A	ENST00000304636.3	+	41	3151	c.2981C>A	c.(2980-2982)cCc>cAc	p.P994H	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	994	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GAACGTGGTCCCCCTGGACCC	0.453000													6	49					1.26484e-09	1.38411e-09	1	1	0
P2RY4	5030	broad.mit.edu	37	X	69479118	69479118	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chrX:69479118G>A	ENST00000374519.2	-	1	536	c.357C>T	c.(355-357)ctC>ctT	p.L119L		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	119					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						CACTGCAGTAGAGGTTCCAAT	0.582000													3	7					0	0	1	0	0
CARD14	79092	broad.mit.edu	37	17	78175633	78175633	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr17:78175633G>A	ENST00000573882.1	+	16	2478	c.1942G>A	c.(1942-1944)Ggc>Agc	p.G648S	CARD14_ENST00000344227.2_Missense_Mutation_p.G648S|RP11-334C17.5_ENST00000570309.1_RNA|CARD14_ENST00000392434.2_Intron|RP11-334C17.5_ENST00000576824.1_RNA|CARD14_ENST00000570421.1_Missense_Mutation_p.G648S|RP11-334C17.5_ENST00000573935.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	648	PDZ.			DYEASEPLFKAVLEDTTLEEAVGLLRRVDGFCCLSVKVNTD GYKRLLQDLEAK -> SRARPLLSPGLLMGTVAAGGVTQAD FTSPRRCRSTLGWASALSWADVKRSAHL (in Ref. 4; AAH01326).	activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GAGGGTGGACGGCTTCTGCTG	0.592000													13	22					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103412824	103412824	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr14:103412824G>A	ENST00000361246.2	-	28	4017	c.3729C>T	c.(3727-3729)atC>atT	p.I1243I		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1243	CNH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CAGCTGTCAGGATGGCCTTGA	0.552000													4	25					0	0	1	0	0
LACTB2	51110	broad.mit.edu	37	8	71581315	71581315	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr8:71581315C>G	ENST00000276590.4	-	1	77	c.41G>C	c.(40-42)cGa>cCa	p.R14P	LACTB2_ENST00000522447.1_Missense_Mutation_p.R14P	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	14							hydrolase activity|metal ion binding			endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			ACGCACGACTCGATTGGACAG	0.647000											OREG0018822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	19					0	0	1	0	0
SHKBP1	92799	broad.mit.edu	37	19	41097017	41097017	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:41097017C>T	ENST00000291842.5	+	18	2077	c.2028C>T	c.(2026-2028)gaC>gaT	p.D676D	SHKBP1_ENST00000600733.1_Silent_p.D651D	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	676						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTGGGCCAGACCTCCGACGGC	0.667000													9	13					0	0	1	0	0
TMEM200C	645369	broad.mit.edu	37	18	5891629	5891629	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr18:5891629G>T	ENST00000581347.2	-	3	1079	c.434C>A	c.(433-435)tCc>tAc	p.S145Y	TMEM200C_ENST00000383490.2_Missense_Mutation_p.S145Y|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C							integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						GGACGTGGAGGAGGAGGACGG	0.657000													9	60					1.76689e-08	1.9145e-08	1	1	0
DHPS	1725	broad.mit.edu	37	19	12792434	12792434	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:12792434G>A	ENST00000210060.7	-	1	282	c.147C>T	c.(145-147)ttC>ttT	p.F49F	DHPS_ENST00000351660.5_Silent_p.F49F	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	49					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8					Sulfadoxine(DB01299)	CGGTGGTGCCGAAGGCCTCCA	0.632000													11	34					0	0	1	0	0
HIST2H2BF	440689	broad.mit.edu	37	1	149783657	149783657	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:149783657G>A	ENST00000427880.2	-	1	268	c.222C>T	c.(220-222)atC>atT	p.I74I	HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000369167.1_Silent_p.I74I|HIST2H2BF_ENST00000545683.1_Silent_p.I74I			Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	74					nucleosome assembly	nucleosome|nucleus	DNA binding	p.I74I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					CCTCTCCCGCGATGCGCTCGA	0.642000													29	63					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687896	27687896	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr10:27687896C>G	ENST00000438700.3	-	4	1748	c.1631G>C	c.(1630-1632)aGa>aCa	p.R544T		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	544					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GACTACTTCTCTTTTACCATC	0.388000													76	80					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90857607	90857607	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr4:90857607G>A	ENST00000394980.1	+	7	3095	c.2776G>A	c.(2776-2778)Gaa>Aaa	p.E926K	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.E668K|MMRN1_ENST00000264790.2_Missense_Mutation_p.E926K			Q13201	MMRN1_HUMAN	multimerin 1	926					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.E926K(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AACTCTCCACGAAGTTTTAAC	0.373000													3	42					0	0	1	0	0
XAF1	54739	broad.mit.edu	37	17	6665505	6665505	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr17:6665505C>G	ENST00000361842.3	+	5	692	c.453C>G	c.(451-453)atC>atG	p.I151M	XAF1_ENST00000346752.4_Missense_Mutation_p.I132M|XAF1_ENST00000441631.1_Missense_Mutation_p.I151M	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	151					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						AAAGGGAAATCTACTGTCATT	0.403000													6	38					0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54969789	54969789	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr12:54969789C>T	ENST00000243052.3	+	13	1717	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	PDE1B_ENST00000394277.3_3'UTR|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000538346.1_Silent_p.F386F|PDE1B_ENST00000550620.1_Silent_p.F407F	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	427	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TCATCGACTTCATTGTGGAGC	0.552000													16	48					0	0	1	0	0
PSMA6	5687	broad.mit.edu	37	14	35786505	35786505	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr14:35786505G>C	ENST00000261479.4	+	7	854	c.734G>C	c.(733-735)aGa>aCa	p.R245T	PSMA6_ENST00000553809.1_Missense_Mutation_p.R251T|PSMA6_ENST00000540871.1_Missense_Mutation_p.R226T|PSMA6_ENST00000556506.1_3'UTR|PSMA6_ENST00000555764.1_Missense_Mutation_p.R166T|KIAA0391_ENST00000557565.1_3'UTR	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	245					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CTAGCAGAGAGAGACTAAACA	0.393000													13	68					0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781577	128781577	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr11:128781577G>A	ENST00000529694.1	+	2	785	c.409G>A	c.(409-411)Gtg>Atg	p.V137M	KCNJ5_ENST00000338350.4_Missense_Mutation_p.V137M|KCNJ5_ENST00000533599.1_Missense_Mutation_p.V137M	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	137					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CAGTGGCTTCGTGTCCGCTTT	0.502000													5	95					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004348	74004348	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr17:74004348G>A	ENST00000301607.3	-	22	5191	c.4938C>T	c.(4936-4938)ctC>ctT	p.L1646L	EVPL_ENST00000586740.1_Silent_p.L1668L	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1646	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCTTCTCGCGGAGGATGGCCG	0.677000													5	31					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117743312	117743312	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chrX:117743312G>A	ENST00000276204.6	+	27	3023	c.2949G>A	c.(2947-2949)aaG>aaA	p.K983K	DOCK11_ENST00000276202.7_Splice_Site_p.K983K			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	983					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ATAAGATTAAGGTAAGTAAAT	0.269000													7	12					0	0	1	0	0
ZNF791	163049	broad.mit.edu	37	19	12740070	12740070	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:12740070G>A	ENST00000343325.4	+	4	1889	c.1727G>A	c.(1726-1728)cGa>cAa	p.R576Q	ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Missense_Mutation_p.R467Q|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.R544Q	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						ATGCACAATCGATAGAAACTC	0.338000													5	43					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416541	105416541	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr14:105416541C>G	ENST00000333244.5	-	7	5366	c.5247G>C	c.(5245-5247)ttG>ttC	p.L1749F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1749						nucleus		p.L1749F(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)			TGGGCATCTTCAAACTGGGCA	0.652000													52	149					0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89844663	89844663	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr15:89844663C>T	ENST00000310775.7	+	27	3082	c.2996C>T	c.(2995-2997)tCc>tTc	p.S999F	FANCI_ENST00000300027.8_Missense_Mutation_p.S939F	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	999					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CTGGAGCCCTCCTCTCCTCAG	0.408000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	42					0	0	1	0	0
PHF20L1	51105	broad.mit.edu	37	8	133829167	133829167	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr8:133829167C>G	ENST00000395386.2	+	11	1517	c.1218C>G	c.(1216-1218)ttC>ttG	p.F406L	PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Missense_Mutation_p.F381L	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	406							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CTAGACCTTTCAAGCATAGTG	0.453000													10	61					0	0	1	0	0
NOP10	55505	broad.mit.edu	37	15	34634284	34634284	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr15:34634284G>C	ENST00000328848.4	-	2	183	c.80C>G	c.(79-81)aCc>aGc	p.T27S	NOP10_ENST00000557912.1_Intron	NM_018648.3	NP_061118.1	Q9NPE3	NOP10_HUMAN	NOP10 ribonucleoprotein	27					pseudouridine synthesis|rRNA processing	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			lung(1)|ovary(1)	2						GGCTGAGCAGGTCTGTTGTCC	0.522000													4	25					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118574410	118574410	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:118574410C>G	ENST00000336338.5	-	25	3579	c.3514G>C	c.(3514-3516)Gtt>Ctt	p.V1172L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1172						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTTGAGGAACGGTCACTATA	0.353000													7	73					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56490800	56490800	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:56490800A>G	ENST00000291971.3	+	9	2988	c.2917A>G	c.(2917-2919)Atg>Gtg	p.M973V	NLRP8_ENST00000590542.1_Missense_Mutation_p.M954V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	973						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTGCCAGGCCATGGCTTCCAT	0.507000													7	67					0	0	1	0	0
RAB34	83871	broad.mit.edu	37	17	27044000	27044000	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr17:27044000C>A	ENST00000395245.3	-	2	693	c.67G>T	c.(67-69)Gag>Tag	p.E23*	RAB34_ENST00000415040.2_Nonsense_Mutation_p.E23*|RAB34_ENST00000447716.1_Nonsense_Mutation_p.E80*|RAB34_ENST00000395242.2_Nonsense_Mutation_p.E23*|RAB34_ENST00000450529.1_Nonsense_Mutation_p.E23*|RAB34_ENST00000395243.3_Nonsense_Mutation_p.E23*|RAB34_ENST00000453384.3_Nonsense_Mutation_p.E80*|RAB34_ENST00000301043.6_Nonsense_Mutation_p.E23*|RAB34_ENST00000436730.3_Nonsense_Mutation_p.E23*	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	23					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					AAAGCGGCCTCCTTCCTCAGG	0.642000													14	35					1.3612e-06	1.44301e-06	1	1	0
ADAM23	8745	broad.mit.edu	37	2	207457381	207457381	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:207457381C>T	ENST00000264377.3	+	22	2327	c.1999C>T	c.(1999-2001)Cga>Tga	p.R667*	ADAM23_ENST00000374415.3_Nonsense_Mutation_p.R667*|ADAM23_ENST00000374416.1_Nonsense_Mutation_p.R667*	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	667					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CAATCTTACTCGAGCTCCACG	0.403000													6	87					0	0	1	0	0
AQP4	361	broad.mit.edu	37	18	24436386	24436386	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr18:24436386G>A	ENST00000383168.4	-	5	889	c.761C>T	c.(760-762)cCa>cTa	p.P254L	AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.P232L|AQP4_ENST00000583022.1_5'UTR|AQP4_ENST00000581374.1_Missense_Mutation_p.P232L|AQP4-AS1_ENST00000579964.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	254					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					TTCAACATCTGGACAGAAGAC	0.458000													36	108					0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158152691	158152691	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:158152691C>T	ENST00000368171.3	+	5	1130	c.631C>T	c.(631-633)Cgt>Tgt	p.R211C		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	211	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CTGGCTGTCCCGTGGCCCCAG	0.567000													18	65					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28719811	28719811	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr18:28719811A>C	ENST00000257197.3	-	11	1824	c.1563T>G	c.(1561-1563)aaT>aaG	p.N521K	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.N521K	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	521	Cadherin 4.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CAGTGTGTTGATTAATTTCAA	0.328000													3	35					0	0	1	0	0
GALNT12	79695	broad.mit.edu	37	9	101606467	101606467	+	Silent	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr9:101606467C>G	ENST00000375011.3	+	8	1434	c.1434C>G	c.(1432-1434)ctC>ctG	p.L478L		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	478	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				TTCTGTACCTCTGTCATGGGA	0.393000													14	24					0	0	1	0	0
DMTF1	9988	broad.mit.edu	37	7	86795817	86795817	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr7:86795817C>T	ENST00000394703.5	+	6	691	c.128C>T	c.(127-129)tCa>tTa	p.S43L	DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000394702.3_Missense_Mutation_p.S43L|DMTF1_ENST00000411766.2_Intron|DMTF1_ENST00000331242.7_Missense_Mutation_p.S43L|DMTF1_ENST00000432937.2_5'UTR|DMTF1_ENST00000413276.2_Missense_Mutation_p.S43L	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	43	Interaction with CCND2 (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					GAAATAGACTCAGAAGATAGT	0.343000													38	63					0	0	1	0	0
DLG3	1741	broad.mit.edu	37	X	69699075	69699075	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chrX:69699075G>A	ENST00000194900.4	+	11	1876	c.1535G>A	c.(1534-1536)gGg>gAg	p.G512E	DLG3_ENST00000542398.1_Missense_Mutation_p.G11E|DLG3_ENST00000374355.3_Missense_Mutation_p.G157E|DLG3_ENST00000374360.3_Missense_Mutation_p.G494E			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	494	SH3.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					TCTGGGTCTGGGTCCCTCCGA	0.488000													24	35					0	0	1	0	0
POLR3GL	84265	broad.mit.edu	37	1	145457096	145457096	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:145457096C>T	ENST00000369314.1	-	7	571	c.465G>A	c.(463-465)gaG>gaA	p.E155E	POLR3GL_ENST00000369313.3_Silent_p.E132E	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	155	Glu-rich.									endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTCCTTCTTCTCCAGGGTCT	0.438000													17	22					0	0	1	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33096337	33096337	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr13:33096337C>T	ENST00000267068.3	-	4	1619	c.1455G>A	c.(1453-1455)atG>atA	p.M485I	N4BP2L2_ENST00000357505.6_Missense_Mutation_p.M41I|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.M485I|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.M56I|N4BP2L2_ENST00000504114.1_Missense_Mutation_p.M41I	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	485										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		CATATGGCTTCATTTCCCAAG	0.274000													10	99					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43249312	43249312	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr18:43249312G>A	ENST00000255226.6	+	16	2894	c.2078G>A	c.(2077-2079)tGg>tAg	p.W693*	SLC14A2_ENST00000589658.1_Nonsense_Mutation_p.W170*|SLC14A2_ENST00000586448.1_Nonsense_Mutation_p.W693*	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	693						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTCAGCAAGTGGGACCTCCCA	0.552000													10	71					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74005315	74005315	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr17:74005315G>T	ENST00000301607.3	-	22	4224	c.3971C>A	c.(3970-3972)cCg>cAg	p.P1324Q	EVPL_ENST00000586740.1_Missense_Mutation_p.P1346Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1324	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTCCAGCACCGGGTCCTTCTC	0.692000													13	126					0.00244969	0.00247779	1	1	0
ACTB	60	broad.mit.edu	37	7	5568986	5568986	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr7:5568986C>T	ENST00000331789.5	-	3	360	c.169G>A	c.(169-171)Gag>Aag	p.E57K		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	57					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CTCTGGGCCTCGTCGCCCACA	0.602000													11	45					0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117634536	117634536	+	Silent	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:117634536C>G	ENST00000369466.4	+	17	2813	c.2769C>G	c.(2767-2769)ctC>ctG	p.L923L		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II						mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TGCTGAGACTCCGCCAGTGTT	0.532000													20	65					0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113405839	113405839	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr12:113405839G>T	ENST00000228928.7	+	14	3143	c.2964G>T	c.(2962-2964)caG>caT	p.Q988H	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	988	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						AGGACTCCCAGTTCAACATGG	0.592000													4	36					0.150653	0.150996	1	1	0
BTD	686	broad.mit.edu	37	3	15683504	15683504	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr3:15683504G>A	ENST00000383778.4	+	3	697	c.339G>A	c.(337-339)ccG>ccA	p.P113P	BTD_ENST00000482824.1_3'UTR|BTD_ENST00000437172.1_Silent_p.P135P|BTD_ENST00000449107.1_Silent_p.P135P|BTD_ENST00000303498.5_Silent_p.P133P	NM_001281725.1	NP_001268654.1	P43251	BTD_HUMAN	biotinidase	133	CN hydrolase.				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						ACTTCATGCCGTCTCCCCAGG	0.458000													3	24					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004162	74004162	+	Silent	SNP	G	G	A	rs141345812		TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr17:74004162G>A	ENST00000301607.3	-	22	5377	c.5124C>T	c.(5122-5124)atC>atT	p.I1708I	EVPL_ENST00000586740.1_Silent_p.I1730I	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1708	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGCCCCTGTCGATGATGCCCC	0.622000													7	81					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23914933	23914933	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr13:23914933G>C	ENST00000382298.3	-	10	3670	c.3082C>G	c.(3082-3084)Cca>Gca	p.P1028A	SACS_ENST00000402364.1_Missense_Mutation_p.P278A|SACS_ENST00000382292.3_Missense_Mutation_p.P1028A	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1028					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGCACATTTGGATTCTCATTT	0.343000													17	105					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22157300	22157300	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:22157300A>G	ENST00000397126.4	-	4	684	c.536T>C	c.(535-537)gTc>gCc	p.V179A	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAATGATCTGACGTATTCTTT	0.333000													6	51					0	0	1	0	0
CA6	765	broad.mit.edu	37	1	9018968	9018968	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:9018968G>A	ENST00000377443.2	+	4	412		c.e4-1		CA6_ENST00000476083.1_Splice_Site|CA6_ENST00000377442.2_Splice_Site|CA6_ENST00000377436.3_Splice_Site	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI						one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTCTTACAGATTCACATTG	0.448000													23	145					0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17629422	17629422	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr6:17629422G>T	ENST00000262077.2	-	18	3007	c.3008C>A	c.(3007-3009)tCt>tAt	p.S1003Y	NUP153_ENST00000537253.1_Missense_Mutation_p.S1034Y	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1003					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TCCAAGATTAGATACCCCAAA	0.378000													11	34					6.40141e-05	6.65807e-05	1	1	0
ZNF451	26036	broad.mit.edu	37	6	57013307	57013307	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr6:57013307C>T	ENST00000370706.4	+	10	2668	c.2424C>T	c.(2422-2424)ttC>ttT	p.F808F	RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000357489.3_Silent_p.F808F|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|ZNF451_ENST00000491832.2_Silent_p.F808F|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	808					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AGCAGCATTTCCATAGAAAAC	0.428000													6	45					0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35250212	35250212	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:35250212C>G	ENST00000329285.8	-	4	1867	c.1494G>C	c.(1492-1494)atG>atC	p.M498I		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TGTGAATCCTCATGTGTCGAG	0.423000													28	95					0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	77859162	77859162	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr16:77859162C>T	ENST00000302536.2	+	3	536	c.383C>T	c.(382-384)gCa>gTa	p.A128V		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	128							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CGTGTCATGGCATTTGTCAAT	0.522000													31	46					0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128204816	128204816	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr3:128204816C>G	ENST00000341105.2	-	3	956	c.625G>C	c.(625-627)Gac>Cac	p.D209H	GATA2_ENST00000487848.1_Missense_Mutation_p.D209H|GATA2_ENST00000430265.2_Missense_Mutation_p.D209H	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	209					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		TTGACGCCGTCCTTGTCCTCT	0.627000			Mis		AML(CML blast transformation)								7	16					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186697846	186697846	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:186697846G>T	ENST00000343098.5	+	23	20884	c.20884G>T	c.(20884-20886)Gga>Tga	p.G6962*	FSIP2_ENST00000424728.1_Nonsense_Mutation_p.G6873*	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CTCCAAACAAGGATCTAAAAT	0.383000													9	48					3.86212e-05	4.03601e-05	1	1	0
KDM7A	80853	broad.mit.edu	37	7	139829356	139829356	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr7:139829356C>G	ENST00000397560.2	-	4	593	c.496G>C	c.(496-498)Gat>Cat	p.D166H	JHDM1D_ENST00000006967.5_Missense_Mutation_p.D166H	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		166					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					CCTAGATCATCTAATTTTGGG	0.393000													29	50					0	0	1	0	0
AREL1	9870	broad.mit.edu	37	14	75142466	75142466	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr14:75142466G>C	ENST00000356357.4	-	8	1531	c.1016C>G	c.(1015-1017)tCt>tGt	p.S339C	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		GTGGCACTCAGAGGGCGAGTC	0.547000													58	155					0	0	1	0	0
SLC6A8	6535	broad.mit.edu	37	X	152958604	152958604	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chrX:152958604G>C	ENST00000253122.5	+	5	1362	c.886G>C	c.(886-888)Gac>Cac	p.D296H	SLC6A8_ENST00000485324.1_3'UTR|SLC6A8_ENST00000430077.2_Missense_Mutation_p.D181H	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	296					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	TCTCAAGCCTGACTGGTCAAA	0.642000													3	8					0	0	1	0	0
ECHDC1	55862	broad.mit.edu	37	6	127611178	127611178	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr6:127611178G>A	ENST00000531967.1	-	6	1263	c.760C>T	c.(760-762)Caa>Taa	p.Q254*	ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000309620.9_Nonsense_Mutation_p.Q231*|ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000454859.3_Nonsense_Mutation_p.Q248*|ECHDC1_ENST00000474289.2_Nonsense_Mutation_p.Q248*|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000430841.2_Nonsense_Mutation_p.Q248*|ECHDC1_ENST00000454591.2_Nonsense_Mutation_p.Q173*	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	254							catalytic activity			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		GGTGGCCCTTGGATGAATTGC	0.388000													14	86					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89402203	89402203	+	Silent	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr15:89402203G>C	ENST00000439576.2	+	12	6761	c.6387G>C	c.(6385-6387)ctG>ctC	p.L2129L	ACAN_ENST00000561243.1_Silent_p.L2129L|ACAN_ENST00000559004.1_Silent_p.L2129L|ACAN_ENST00000352105.7_Silent_p.L2129L	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2129					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCCCTGATCTGAGTGAAACCA	0.572000													9	42					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231359153	231359153	+	Silent	SNP	T	T	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:231359153T>C	ENST00000264052.5	+	18	1978	c.1623T>C	c.(1621-1623)tcT>tcC	p.S541S	SP100_ENST00000409112.1_Silent_p.S541S|SP100_ENST00000340126.4_Silent_p.S541S	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	541					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGCATAGATCTAAAGTAAATG	0.368000													13	41					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24593407	24593407	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr5:24593407C>A	ENST00000264463.4	-	2	700	c.193G>T	c.(193-195)Gaa>Taa	p.E65*	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	65	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTATATTCTTCAAGTAAGAAA	0.353000										HNSCC(23;0.051)			34	59					2.09667e-21	2.32904e-21	1	1	0
NLRP10	338322	broad.mit.edu	37	11	7982292	7982292	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr11:7982292G>A	ENST00000328600.2	-	2	1028	c.867C>T	c.(865-867)ctC>ctT	p.L289L		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	289	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGGTGGTGATGAGAAGGGAGC	0.542000													11	73					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1267770	1267770	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr11:1267770C>T	ENST00000447027.1	+	31	9727	c.9669C>T	c.(9667-9669)acC>acT	p.T3223T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T3220T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3220	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGACTGCAACCGCCCTTCCAG	0.637000													5	109					0	0	1	0	0
MDK	4192	broad.mit.edu	37	11	46403917	46403917	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr11:46403917G>C	ENST00000405308.2	+	3	579	c.150G>C	c.(148-150)aaG>aaC	p.K50N	MDK_ENST00000407067.1_Missense_Mutation_p.K50N|MDK_ENST00000395569.4_Intron|MDK_ENST00000395565.1_Missense_Mutation_p.K50N|MDK_ENST00000395566.4_Missense_Mutation_p.K50N|MDK_ENST00000359803.3_Missense_Mutation_p.K50N|MDK_ENST00000533283.1_3'UTR	NM_001270550.1	NP_001257479.1	P21741	MK_HUMAN	midkine (neurite growth-promoting factor 2)	50					adrenal gland development|cell differentiation|nervous system development|positive regulation of cell division|response to wounding|signal transduction	extracellular region	growth factor activity|heparin binding			lung(1)	1				GBM - Glioblastoma multiforme(35;0.0252)|Lung(87;0.14)		CCAGCAGCAAGGATTGCGGCG	0.667000													4	7					0	0	1	0	0
ANKRD55	79722	broad.mit.edu	37	5	55396109	55396109	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr5:55396109C>T	ENST00000341048.4	-	12	1897	c.1746G>A	c.(1744-1746)cgG>cgA	p.R582R	ANKRD55_ENST00000434982.2_Silent_p.R294R|ANKRD55_ENST00000504958.2_Silent_p.R539R	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	581										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				CTCGGTTTGTCCGCAGAGGTT	0.453000													12	65					0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130488527	130488527	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr9:130488527G>A	ENST00000373289.3	+	10	1349	c.1269G>A	c.(1267-1269)caG>caA	p.Q423Q	TTC16_ENST00000489226.1_3'UTR|TTC16_ENST00000393748.4_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	423							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GGCAGTTCCAGAAGGCAGAGA	0.597000													19	24					0	0	1	0	0
LCMT2	9836	broad.mit.edu	37	15	43621006	43621006	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr15:43621006G>A	ENST00000305641.5	-	1	1797	c.1682C>T	c.(1681-1683)tCt>tTt	p.S561F	LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_Missense_Mutation_p.S140F	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	561					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	AAAGAGCACAGAGTTCAATGG	0.552000													16	35					0	0	1	0	0
SCAF8	22828	broad.mit.edu	37	6	155145420	155145420	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr6:155145420C>A	ENST00000367178.3	+	17	2555	c.1979C>A	c.(1978-1980)cCt>cAt	p.P660H	SCAF8_ENST00000417268.1_Missense_Mutation_p.P660H|SCAF8_ENST00000367186.4_Missense_Mutation_p.P726H	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	660	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CCAGCATTTCCTGTGTCGATG	0.473000													4	103					0.184627	0.184627	1	1	0
CDH4	1002	broad.mit.edu	37	20	60509192	60509192	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr20:60509192G>A	ENST00000360469.5	+	15	2546	c.2458G>A	c.(2458-2460)Gat>Aat	p.D820N	CDH4_ENST00000543233.1_Missense_Mutation_p.D746N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	820					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCGTCGCGTGGATGAGCGGCC	0.677000													5	43					0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55066961	55066961	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:55066961G>A	ENST00000371316.3	+	9	986	c.904G>A	c.(904-906)Gtg>Atg	p.V302M	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.V302M	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	302	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GGGCGTGTGCGTGGAGGCCTA	0.612000													6	35					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32964376	32964376	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr17:32964376C>T	ENST00000321639.5	+	10	2408	c.2080C>T	c.(2080-2082)Cgc>Tgc	p.R694C		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	694						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GGAGCTGCTTCGCGCAGAGCT	0.632000													32	61					0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45153729	45153729	+	Silent	SNP	G	G	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr3:45153729G>T	ENST00000296129.1	-	3	635	c.501C>A	c.(499-501)atC>atA	p.I167I	CDCP1_ENST00000425231.2_Silent_p.I167I	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	167						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CGGTGGCATCGATTCGGCCGC	0.572000													8	64					0.00448238	0.00451308	1	1	0
OR5A1	219982	broad.mit.edu	37	11	59210659	59210659	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr11:59210659C>T	ENST00000302030.2	+	1	43	c.18C>T	c.(16-18)gcC>gcT	p.A6A		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TAACCAAAGCCTGGAACAGCT	0.478000													3	43					0	0	1	0	0
RAD50	10111	broad.mit.edu	37	5	131923272	131923272	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr5:131923272G>C	ENST00000378823.3	+	6	1176	c.358G>C	c.(358-360)Gaa>Caa	p.E120Q	RAD50_ENST00000265335.6_Missense_Mutation_p.E259Q|RAD50_ENST00000487596.1_3'UTR	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	259					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAAAGAAATTGAACATAATCT	0.313000								Homologous recombination					5	37					0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55714585	55714585	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr12:55714585G>C	ENST00000379668.2	+	1	240	c.202G>C	c.(202-204)Gaa>Caa	p.E68Q		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						CTCCATATTAGAAATTTCGTT	0.393000													7	40					0	0	1	0	0
IL15	3600	broad.mit.edu	37	4	142641635	142641635	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr4:142641635G>A	ENST00000296545.7	+	4	870	c.26G>A	c.(25-27)aGa>aAa	p.R9K	IL15_ENST00000529613.1_Missense_Mutation_p.R9K|IL15_ENST00000514653.1_5'UTR|IL15_ENST00000477265.1_5'UTR|IL15_ENST00000320650.4_Missense_Mutation_p.R9K			P40933	IL15_HUMAN	interleukin 15	9					cell-cell signaling|immune response|positive regulation of interleukin-17 production	endosome|extracellular space|Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	cytokine activity|cytokine receptor binding|signal transducer activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_hematologic(180;0.158)					CCACATTTGAGAAGTATTTCC	0.289000													5	27					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687759	27687759	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr10:27687759C>T	ENST00000438700.3	-	4	1885	c.1768G>A	c.(1768-1770)Gac>Aac	p.D590N		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	590					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCAAAATAGTCTCTAAAAAAC	0.368000													21	42					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65156379	65156379	+	Silent	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr17:65156379G>C	ENST00000358691.5	-	17	2341	c.2175C>G	c.(2173-2175)ctC>ctG	p.L725L	HELZ_ENST00000580168.1_Silent_p.L726L	NM_014877.3	NP_055692			helicase with zinc finger									p.L725L(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AAAAATACCTGAGAGGTCTTG	0.338000													20	67					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50212446	50212446	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr15:50212446C>G	ENST00000284509.6	-	18	2061	c.1920G>C	c.(1918-1920)ttG>ttC	p.L640F	ATP8B4_ENST00000559829.1_Missense_Mutation_p.L640F	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	640					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTCATACCATCAAATCTCTTT	0.388000													7	44					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4683851	4683851	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr3:4683851G>A	ENST00000302640.8	+	7	791	c.441G>A	c.(439-441)atG>atA	p.M147I	ITPR1_ENST00000443694.2_Missense_Mutation_p.M147I|ITPR1_ENST00000354582.6_Missense_Mutation_p.M147I|ITPR1_ENST00000423119.2_Missense_Mutation_p.M147I|ITPR1_ENST00000544951.1_Missense_Mutation_p.M147I|ITPR1_ENST00000456211.2_Missense_Mutation_p.M147I|ITPR1_ENST00000357086.4_Missense_Mutation_p.M147I	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	147	MIR 1.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGAATGCCATGAGAGTCACAT	0.433000													9	46					0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2408402	2408402	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:2408402C>T	ENST00000332578.3	+	7	789	c.789C>T	c.(787-789)ctC>ctT	p.L263L		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	263	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGACCTACCTCAGCGGCTCGG	0.667000													11	30					0	0	1	0	0
KDM7A	80853	broad.mit.edu	37	7	139791700	139791700	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr7:139791700C>T	ENST00000397560.2	-	19	2732	c.2635G>A	c.(2635-2637)Gaa>Aaa	p.E879K		NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		879					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ACTGGCCTTTCTGGGCTTAGA	0.512000													7	39					0	0	1	0	0
TOM1L2	146691	broad.mit.edu	37	17	17766066	17766066	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr17:17766066G>C	ENST00000581396.1	-	10	1127	c.1031C>G	c.(1030-1032)tCc>tGc	p.S344C	TOM1L2_ENST00000542206.1_Missense_Mutation_p.S246C|TOM1L2_ENST00000318094.10_Missense_Mutation_p.S349C|TOM1L2_ENST00000395739.4_Missense_Mutation_p.S349C|TOM1L2_ENST00000540946.1_Missense_Mutation_p.S296C|TOM1L2_ENST00000535933.1_Missense_Mutation_p.S341C|TOM1L2_ENST00000379504.3_Missense_Mutation_p.S394C|TOM1L2_ENST00000478943.1_Missense_Mutation_p.S127C	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	394					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CTCAGCCAAGGAGTTTCCTCT	0.542000													19	109					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75104990	75104990	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr10:75104990C>T	ENST00000401621.2	-	6	562	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	TTC18_ENST00000340329.3_Missense_Mutation_p.E148K|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000310715.3_Missense_Mutation_p.E148K|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.E148K			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	148							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					ACTTTAACTTCAAGACTGCAC	0.408000													6	40					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13087568	13087568	+	Silent	SNP	C	C	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr18:13087568C>A	ENST00000506447.1	+	32	5996	c.5916C>A	c.(5914-5916)atC>atA	p.I1972I	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000325971.8_Silent_p.I1376I|CEP192_ENST00000430049.2_Silent_p.I1497I	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1567										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ACAGAGGAATCAATAATAAAA	0.284000													20	56					2.32416e-17	2.56881e-17	1	1	0
TMEM181	57583	broad.mit.edu	37	6	159049443	159049443	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr6:159049443C>T	ENST00000367090.3	+	14	1535	c.1524C>T	c.(1522-1524)atC>atT	p.I508I		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	508					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		TGTTCAGCATCGCCATCCTTT	0.438000													10	75					0	0	1	0	0
SULT1A2	6799	broad.mit.edu	37	16	28604836	28604836	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr16:28604836G>A	ENST00000395630.1	-	5	776	c.426C>T	c.(424-426)ttC>ttT	p.F142F	SULT1A2_ENST00000533150.1_Intron|SULT1A2_ENST00000335715.4_Silent_p.F142F	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	142					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						CCATGTGGTAGAAGTGGTAGT	0.567000													19	27					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34642915	34642915	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr15:34642915C>T	ENST00000537011.1	+	4	1202	c.820C>T	c.(820-822)Cgt>Tgt	p.R274C	NUTM1_ENST00000333756.4_Missense_Mutation_p.R246C|NUTM1_ENST00000438749.3_Missense_Mutation_p.R264C	NM_001284292.1	NP_001271221.1			NUT midline carcinoma, family member 1																		CCCAGTGCTTCGTTCCCTGGC	0.557000													7	18					0	0	1	0	0
C16orf71	146562	broad.mit.edu	37	16	4790537	4790537	+	Silent	SNP	C	C	T	rs148210585		TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr16:4790537C>T	ENST00000299320.5	+	4	1138	c.660C>T	c.(658-660)tgC>tgT	p.C220C	C16orf71_ENST00000590191.1_Silent_p.C234C|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	220										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GGGATGCCTGCGGCCCGACCA	0.627000													5	15					0	0	1	0	0
TRIM9	114088	broad.mit.edu	37	14	51446213	51446213	+	Silent	SNP	A	A	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr14:51446213A>G	ENST00000298355.3	-	9	3083	c.1962T>C	c.(1960-1962)aaT>aaC	p.N654N	TRIM9_ENST00000338969.5_Silent_p.N735N	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	654	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					AGTTTTTTCTATTTAAGTCGA	0.453000													34	187					0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158299224	158299224	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:158299224C>T	ENST00000368168.3	-	4	929	c.822G>A	c.(820-822)gcG>gcA	p.A274A		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	274	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ACAGGCCAGCCGCCTCCCCAT	0.582000													12	62					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21082115	21082115	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr22:21082115G>A	ENST00000255882.6	-	40	4806	c.4720C>T	c.(4720-4722)Cgt>Tgt	p.R1574C	PI4KA_ENST00000414196.3_Missense_Mutation_p.R326C|PI4KA_ENST00000572273.1_Missense_Mutation_p.R1516C	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1516					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CGAACGAGACGGGTCACTTCG	0.547000													5	42					0	0	1	0	0
DCTN2	10540	broad.mit.edu	37	12	57927773	57927773	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr12:57927773G>A	ENST00000548249.1	-	7	899	c.632C>T	c.(631-633)tCt>tTt	p.S211F	DCTN2_ENST00000434715.3_Missense_Mutation_p.S216F|DCTN2_ENST00000543672.1_Missense_Mutation_p.S216F|DCTN2_ENST00000537439.1_Missense_Mutation_p.S188F	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	211					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						CTCAGGCCGAGAATGTAGTTC	0.512000													12	54					0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122759236	122759236	+	Missense_Mutation	SNP	A	A	G	rs144153896		TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr7:122759236A>G	ENST00000194130.2	-	13	1450	c.1411T>C	c.(1411-1413)Tgg>Cgg	p.W471R	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	471						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ATTATTAGCCATGCTGGTAAT	0.343000													5	67					0	0	1	0	0
SUZ12	23512	broad.mit.edu	37	17	30322735	30322735	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr17:30322735G>T	ENST00000322652.5	+	14	1977	c.1748G>T	c.(1747-1749)aGt>aTt	p.S583I	SUZ12_ENST00000580398.1_Missense_Mutation_p.S560I	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	583	VEFS-box.				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				GAAGTAGATAGTGAAGATGAA	0.338000			T	JAZF1	endometrial stromal tumours								7	40					2.0095e-06	2.12007e-06	1	1	0
EHBP1	23301	broad.mit.edu	37	2	63176135	63176135	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:63176135C>G	ENST00000263991.5	+	14	2741	c.2259C>G	c.(2257-2259)atC>atG	p.I753M	EHBP1_ENST00000354487.3_Missense_Mutation_p.I718M|EHBP1_ENST00000405289.1_Missense_Mutation_p.I718M|EHBP1_ENST00000431489.1_Missense_Mutation_p.I718M|EHBP1_ENST00000405015.3_Missense_Mutation_p.I718M	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	753						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AATCTCCTATCAAAAAAACAA	0.368000													5	38					0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110980770	110980770	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr8:110980770G>A	ENST00000524391.1	-	4	2082	c.1050C>T	c.(1048-1050)ctC>ctT	p.L350L	KCNV1_ENST00000297404.1_Silent_p.L350L			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	350						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ATAGAAATAGGAGCAGTAGGC	0.458000													10	65					0	0	1	0	0
CINP	51550	broad.mit.edu	37	14	102816325	102816325	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr14:102816325C>T	ENST00000216756.6	-	4	407	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	CINP_ENST00000541568.2_Intron|CINP_ENST00000536961.2_Missense_Mutation_p.E138K	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	123					cell cycle|cell division|DNA repair|DNA replication	nucleus	protein binding			large_intestine(2)|lung(2)	4						TGGTAGTTTTCTAGTTCACAA	0.388000													11	38					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7527290	7527290	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr12:7527290G>A	ENST00000313599.3	-	13	3214	c.3157C>T	c.(3157-3159)Cac>Tac	p.H1053Y	CD163L1_ENST00000396630.1_Missense_Mutation_p.H1053Y|CD163L1_ENST00000416109.2_Missense_Mutation_p.H1063Y			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1053	SRCR 10.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AAGCCGTCGTGATAGATCTCT	0.562000											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	26					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71801430	71801430	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:71801430C>T	ENST00000258104.3	+	30	3554	c.3277C>T	c.(3277-3279)Cgc>Tgc	p.R1093C	DYSF_ENST00000413539.2_Missense_Mutation_p.R1124C|DYSF_ENST00000409366.1_Missense_Mutation_p.R1094C|DYSF_ENST00000410020.3_Missense_Mutation_p.R1111C|DYSF_ENST00000409651.1_Missense_Mutation_p.R1125C|DYSF_ENST00000409744.1_Missense_Mutation_p.R1080C|DYSF_ENST00000394120.2_Missense_Mutation_p.R1094C|DYSF_ENST00000410041.1_Missense_Mutation_p.R1111C|DYSF_ENST00000409582.3_Missense_Mutation_p.R1110C|DYSF_ENST00000409762.1_Missense_Mutation_p.R1110C|DYSF_ENST00000429174.2_Missense_Mutation_p.R1093C	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1093	Arg-rich.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCGCCGCCGCCGCTGGCGCCG	0.662000													10	96					0	0	1	0	0
DAK	26007	broad.mit.edu	37	11	61113951	61113951	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr11:61113951C>T	ENST00000394900.3	+	18	1933	c.1704C>T	c.(1702-1704)gcC>gcT	p.A568A		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	568	DhaL.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						TCCTCCGGGCCATCTTGGAGG	0.607000													6	121					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834311	61834311	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr10:61834311C>T	ENST00000280772.2	-	37	6519	c.6328G>A	c.(6328-6330)Gag>Aag	p.E2110K	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCAGGAGACTCTAAAATAGTA	0.418000													7	49					0	0	1	0	0
BABAM1	29086	broad.mit.edu	37	19	17379628	17379628	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:17379628G>C	ENST00000359435.4	+	2	206	c.13G>C	c.(13-15)Gag>Cag	p.E5Q	BABAM1_ENST00000601043.1_Missense_Mutation_p.E5Q|BABAM1_ENST00000448635.2_3'UTR|BABAM1_ENST00000598188.1_Missense_Mutation_p.E5Q|CTD-2278I10.6_ENST00000596542.1_5'UTR|BABAM1_ENST00000447614.2_Missense_Mutation_p.E5Q|BABAM1_ENST00000595632.1_Missense_Mutation_p.E5Q	NM_001033549.1	NP_001028721.1	Q9NWV8	BABA1_HUMAN	BRISC and BRCA1 A complex member 1	5					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation	BRCA1-A complex|BRISC complex|cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						GGAAGTGGCAGAGCCCAGCAG	0.607000													6	6					0	0	1	0	0
TOLLIP	54472	broad.mit.edu	37	11	1311560	1311560	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr11:1311560G>A	ENST00000527886.1	-	3	436	c.56C>T	c.(55-57)aCg>aTg	p.T19M	TOLLIP_ENST00000525159.1_Intron|TOLLIP_ENST00000528719.1_5'UTR|TOLLIP_ENST00000317204.6_Missense_Mutation_p.T88M|TOLLIP_ENST00000263646.7_Missense_Mutation_p.T60M|TOLLIP_ENST00000542915.1_Missense_Mutation_p.T38M|TOLLIP_ENST00000527938.1_Intron			Q9H0E2	TOLIP_HUMAN	toll interacting protein	88					cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding			large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		TGCCGTGGGCGTCTCGTACAC	0.582000													4	21					0	0	1	0	0
IRF2	3660	broad.mit.edu	37	4	185329364	185329364	+	Silent	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr4:185329364C>G	ENST00000393593.3	-	6	684	c.477G>C	c.(475-477)gcG>gcC	p.A159A	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	159					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		AAGTCAGGACCGCATACTCAG	0.398000													23	66					0	0	1	0	0
UGT1A6	54578	broad.mit.edu	37	2	234601975	234601975	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:234601975C>G	ENST00000305139.6	+	1	464	c.325C>G	c.(325-327)Cag>Gag	p.Q109E	UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000373424.1_Intron	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		AACTGCTCCTCAGACAGAGTA	0.448000													7	29					0	0	1	0	0
HMG20A	10363	broad.mit.edu	37	15	77756718	77756718	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr15:77756718C>G	ENST00000381714.3	+	4	654	c.226C>G	c.(226-228)Cat>Gat	p.H76D	HMG20A_ENST00000336216.4_Missense_Mutation_p.H76D	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	76					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TGAACAGAGGCATGAAGATGA	0.438000													6	32					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166961925	166961925	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:166961925C>G	ENST00000367872.4	+	4	572	c.328C>G	c.(328-330)Ctc>Gtc	p.L110V	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.L79V	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	110					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TTTTTTAGCTCTCCTTGGAGG	0.348000													10	30					0	0	1	0	0
SLC10A4	201780	broad.mit.edu	37	4	48486166	48486166	+	Silent	SNP	C	C	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr4:48486166C>A	ENST00000273861.4	+	1	807	c.588C>A	c.(586-588)ctC>ctA	p.L196L		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	196						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						ACATGAACCTCAGGTACGGAT	0.612000													5	44					0.000602214	0.000613341	1	1	0
PLXNA4	91584	broad.mit.edu	37	7	132192499	132192499	+	Silent	SNP	C	C	A	rs142028036	byFrequency	TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr7:132192499C>A	ENST00000359827.3	-	2	1916	c.954G>T	c.(952-954)gcG>gcT	p.A318A	PLXNA4_ENST00000423507.2_Silent_p.A318A|PLXNA4_ENST00000378539.5_Silent_p.A318A|PLXNA4_ENST00000321063.4_Silent_p.A318A			Q9HCM2	PLXA4_HUMAN	plexin A4	318	Sema.					integral to membrane|intracellular|plasma membrane		p.A318A(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCACGGCCCCCGCTTTGGACA	0.587000													19	30					5.35267e-07	5.71556e-07	1	1	0
XYLT2	64132	broad.mit.edu	37	17	48434547	48434547	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr17:48434547G>A	ENST00000017003.2	+	9	1924	c.1875G>A	c.(1873-1875)ctG>ctA	p.L625L	XYLT2_ENST00000507602.1_Silent_p.L625L	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	625					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.L625L(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					AGATGTGGCTGATGCCCCAAG	0.632000													9	12					0	0	1	0	0
PHTF2	57157	broad.mit.edu	37	7	77569961	77569961	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr7:77569961C>T	ENST00000416283.2	+	13	1881	c.1755C>T	c.(1753-1755)ctC>ctT	p.L585L	PHTF2_ENST00000275575.7_Silent_p.L581L|PHTF2_ENST00000248550.7_Silent_p.L619L|PHTF2_ENST00000422959.2_Silent_p.L585L|PHTF2_ENST00000307305.8_Silent_p.L581L	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	619					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GGCTATCTCTCCGTTCCTATC	0.373000													21	78					0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48371532	48371532	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr10:48371532C>T	ENST00000395702.2	+	2	1227	c.1000C>T	c.(1000-1002)Cgg>Tgg	p.R334W	ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Missense_Mutation_p.R227W			Q96MN9	ZN488_HUMAN	zinc finger protein 488	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CCACCTCTCCCGGCACATGAC	0.652000													6	62					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16671022	16671022	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr5:16671022G>A	ENST00000513610.1	-	39	5950	c.5496C>T	c.(5494-5496)gcC>gcT	p.A1832A	MYO10_ENST00000515803.1_Silent_p.A1171A|MYO10_ENST00000505695.1_Silent_p.A1171A|MYO10_ENST00000274203.9_Silent_p.A1189A|MYO10_ENST00000427430.2_Silent_p.A1189A	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1832	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GGAGTCGCAGGGCAGCAAGAA	0.572000													5	35					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62862019	62862019	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr4:62862019C>T	ENST00000512091.2	+	19	3790	c.3043C>T	c.(3043-3045)Cga>Tga	p.R1015*	LPHN3_ENST00000545650.1_Nonsense_Mutation_p.R1015*|LPHN3_ENST00000507625.1_Nonsense_Mutation_p.R1083*|LPHN3_ENST00000514591.1_Nonsense_Mutation_p.R1015*|LPHN3_ENST00000508946.1_Nonsense_Mutation_p.R1015*|LPHN3_ENST00000514157.1_Nonsense_Mutation_p.R1015*|LPHN3_ENST00000506700.1_Nonsense_Mutation_p.R1015*|LPHN3_ENST00000504896.1_Nonsense_Mutation_p.R1015*|LPHN3_ENST00000511324.1_Nonsense_Mutation_p.R1083*|LPHN3_ENST00000508693.1_Nonsense_Mutation_p.R1083*|LPHN3_ENST00000506720.1_Nonsense_Mutation_p.R1083*|LPHN3_ENST00000507164.1_Nonsense_Mutation_p.R1083*|LPHN3_ENST00000509896.1_Nonsense_Mutation_p.R1083*|LPHN3_ENST00000514996.1_Nonsense_Mutation_p.R1015*|LPHN3_ENST00000506746.1_Nonsense_Mutation_p.R1083*			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATGTTGGCTCCGACTTGACAC	0.403000													18	74					0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6182786	6182786	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:6182786G>A	ENST00000588304.1	+	9	1227	c.781G>A	c.(781-783)Gag>Aag	p.E261K	ACSBG2_ENST00000591403.1_Missense_Mutation_p.E311K|ACSBG2_ENST00000588485.1_Missense_Mutation_p.E124K|ACSBG2_ENST00000586696.1_Missense_Mutation_p.E311K|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000252669.5_Missense_Mutation_p.E311K			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	311					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TACTCTAAAGGAGGTAAAACC	0.483000													4	18					0	0	1	0	0
P2RY4	5030	broad.mit.edu	37	X	69478964	69478964	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chrX:69478964G>A	ENST00000374519.2	-	1	690	c.511C>T	c.(511-513)Ctg>Ttg	p.L171L		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	171					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						ACAAAGAACAGGTTGGGCACG	0.617000													4	9					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56362262	56362262	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr6:56362262A>C	ENST00000370754.5	-	82	20044	c.20045T>G	c.(20044-20046)cTg>cGg	p.L6682R	DST_ENST00000446842.2_Missense_Mutation_p.L6178R|DST_ENST00000340834.4_5'UTR|DST_ENST00000361203.3_Missense_Mutation_p.L6393R|DST_ENST00000421834.2_Missense_Mutation_p.L4416R|DST_ENST00000370788.2_Missense_Mutation_p.L4307R|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.L6504R|DST_ENST00000244364.6_Missense_Mutation_p.L4090R			Q03001	DYST_HUMAN	dystonin	6502					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CGTGTCAGTCAGCCACTGCTG	0.473000													3	29					0	0	1	0	0
CCSAP	126731	broad.mit.edu	37	1	229478092	229478092	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:229478092C>G	ENST00000284617.2	-	2	245	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	CCSAP_ENST00000483092.1_5'UTR|CCSAP_ENST00000366687.1_Missense_Mutation_p.E41Q|CCSAP_ENST00000452552.1_Missense_Mutation_p.E41Q	NM_145257.3	NP_660300.3			centriole, cilia and spindle-associated protein																		TGCGCCTGCTCCAGCAGCCGG	0.736000													3	7					0	0	1	0	0
PLCD1	5333	broad.mit.edu	37	3	38049632	38049632	+	Silent	SNP	C	C	G	rs148090621		TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr3:38049632C>G	ENST00000463876.1	-	14	2474	c.2121G>C	c.(2119-2121)acG>acC	p.T707T	PLCD1_ENST00000334661.4_Silent_p.T686T	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	686	C2.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		ACGCAAACTCCGTGTCCCACC	0.542000													9	45					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48451412	48451412	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr3:48451412C>T	ENST00000358536.4	-	32	5949	c.5680G>A	c.(5680-5682)Gag>Aag	p.E1894K	PLXNB1_ENST00000456774.1_Missense_Mutation_p.E1711K|PLXNB1_ENST00000296440.6_Missense_Mutation_p.E1894K|PLXNB1_ENST00000358459.4_Missense_Mutation_p.E1711K|PLXNB1_ENST00000448774.2_Missense_Mutation_p.E505K	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1894					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGGGCGGCTCCGGCTCATCA	0.667000													3	24					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072289	34072289	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr17:34072289G>A	ENST00000254466.6	-	6	2254	c.2227C>T	c.(2227-2229)Ccc>Tcc	p.P743S	GAS2L2_ENST00000587565.1_Missense_Mutation_p.P727S	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	743					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGTCCAAGGGCGAAGGTGTG	0.617000													7	131					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28897008	28897008	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr13:28897008C>G	ENST00000282397.4	-	21	3123	c.2872G>C	c.(2872-2874)Gat>Cat	p.D958H	FLT1_ENST00000540678.1_Missense_Mutation_p.D176H	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	958	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GTGACGCTATCTAGTCTTGGT	0.478000													4	130					0	0	1	0	0
FAM175B	23172	broad.mit.edu	37	10	126518032	126518032	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr10:126518032C>T	ENST00000298492.5	+	7	694	c.649C>T	c.(649-651)Cag>Tag	p.Q217*		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	217						BRISC complex	polyubiquitin binding			NS(1)	1						TAATGCACTTCAGGAGAAAGT	0.333000													3	36					0	0	1	0	0
MUT	4594	broad.mit.edu	37	6	49412449	49412449	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr6:49412449G>C	ENST00000274813.3	-	9	1706	c.1579C>G	c.(1579-1581)Caa>Gaa	p.Q527E		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	527					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCCAAAGCTTGATCCCTGCTG	0.453000													30	108					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98039502	98039502	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:98039502A>T	ENST00000370192.3	-	11	1253	c.1153T>A	c.(1153-1155)Tgt>Agt	p.C385S		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	385					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGAAATTCACACTTTTCTTCC	0.363000													3	44					0	0	1	0	0
MB	4151	broad.mit.edu	37	22	36003364	36003364	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr22:36003364C>T	ENST00000397326.2	-	3	643	c.445G>A	c.(445-447)Gag>Aag	p.E149K	MB_ENST00000359787.1_Missense_Mutation_p.E149K|MB_ENST00000401702.1_Missense_Mutation_p.E94K|MB_ENST00000406324.1_Missense_Mutation_p.E149K|MB_ENST00000397328.1_Missense_Mutation_p.E149K	NM_005368.2	NP_005359.1	P02144	MYG_HUMAN	myoglobin	149							heme binding|oxygen transporter activity			lung(1)	1						AAGCCCAGCTCCTTGTAGTTG	0.627000													15	28					0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68613716	68613716	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:68613716C>T	ENST00000234313.7	+	5	734	c.555C>T	c.(553-555)ctC>ctT	p.L185L		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	185	DEP.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		CATCGCTGCTCAATGAGGGGT	0.512000													17	45					0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16578101	16578101	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:16578101G>A	ENST00000375592.3	-	10	1434	c.1218C>T	c.(1216-1218)ggC>ggT	p.G406G		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	406										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TTCCCCAGCGGCCGTTAACAC	0.577000													3	29					0	0	1	0	0
ARMCX6	54470	broad.mit.edu	37	X	100871339	100871339	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chrX:100871339C>T	ENST00000539247.1	-	4	704	c.272G>A	c.(271-273)gGa>gAa	p.G91E	ARMCX6_ENST00000497931.1_Intron|ARMCX6_ENST00000361910.4_Missense_Mutation_p.G91E|ARMCX6_ENST00000538627.1_Missense_Mutation_p.G91E	NM_001184768.1	NP_001171697.1	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	91						integral to membrane				endometrium(3)|kidney(1)|liver(2)|lung(3)	9						GGCCTTGCCTCCCCCTGAGGG	0.507000													27	28					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136389334	136389334	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:136389334A>G	ENST00000264160.4	+	8	914	c.544A>G	c.(544-546)Att>Gtt	p.I182V	R3HDM1_ENST00000329971.3_Missense_Mutation_p.I138V|R3HDM1_ENST00000409606.1_Missense_Mutation_p.I182V|R3HDM1_ENST00000409478.1_Missense_Mutation_p.I138V|R3HDM1_ENST00000410054.1_Missense_Mutation_p.I126V	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	182	R3H.						nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TTTAGATTTCATTGGTAATAA	0.333000													6	21					0	0	1	0	0
BTN2A2	10385	broad.mit.edu	37	6	26390936	26390936	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr6:26390936G>A	ENST00000356709.4	+	6	1063		c.e6+1		BTN2A2_ENST00000432533.2_Splice_Site|BTN2A2_ENST00000482536.1_Splice_Site|BTN2A2_ENST00000416795.2_Splice_Site|BTN2A2_ENST00000469230.1_Splice_Site|BTN2A2_ENST00000352867.2_Splice_Site	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2						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						GAAGAATTGCGTAAGTTTAGC	0.388000													21	97					0	0	1	0	0
SHOX2	6474	broad.mit.edu	37	3	157815975	157815975	+	Silent	SNP	T	T	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr3:157815975T>G	ENST00000490689.2	-	5	1947	c.414A>C	c.(412-414)gcA>gcC	p.A138A	SHOX2_ENST00000389589.4_Silent_p.A303A|SHOX2_ENST00000483851.2_Silent_p.A267A|SHOX2_ENST00000425436.3_Silent_p.A279A|SHOX2_ENST00000441443.2_Silent_p.A138A			O60902	SHOX2_HUMAN	short stature homeobox 2	279					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CGAAGGGCGGTGCTGGGAACA	0.701000													37	89					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35084740	35084740	+	Splice_Site	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr5:35084740C>G	ENST00000382002.5	-	5	631	c.205G>C	c.(205-207)Gag>Cag	p.E69Q	PRLR_ENST00000342362.5_Intron|PRLR_ENST00000513753.1_Splice_Site_p.E69Q|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000397391.3_5'UTR|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000310101.5_Splice_Site_p.E69Q|PRLR_ENST00000348262.3_Splice_Site_p.E69Q|PRLR_ENST00000231423.3_Splice_Site_p.E69Q|PRLR_ENST00000542609.1_Splice_Site_p.E69Q	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	69	Fibronectin type-III 1.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATGAGTGTCTCTCTGCAATAA	0.408000													7	40					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55594970	55594970	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr11:55594970C>G	ENST00000378397.1	+	1	276	c.276C>G	c.(274-276)atC>atG	p.I92M		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				ACAAAGCCATCTCCTTCCTAG	0.458000										HNSCC(27;0.073)			29	116					0	0	1	0	0
CALML6	163688	broad.mit.edu	37	1	1847136	1847136	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:1847136C>T	ENST00000307786.3	+	2	494	c.40C>T	c.(40-42)Cac>Tac	p.H14Y	CALML6_ENST00000462293.1_3'UTR	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN	calmodulin-like 6	14						cytoplasm|nucleus	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCCCTGGTGTCACCACCCTGC	0.627000													3	12					0	0	1	0	0
L2HGDH	79944	broad.mit.edu	37	14	50769707	50769707	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr14:50769707C>A	ENST00000267436.4	-	2	566	c.169G>T	c.(169-171)Gga>Tga	p.G57*	L2HGDH_ENST00000555423.1_Nonsense_Mutation_p.G57*|L2HGDH_ENST00000556393.1_5'UTR|L2HGDH_ENST00000555610.1_Nonsense_Mutation_p.G57*|L2HGDH_ENST00000261699.4_Nonsense_Mutation_p.G57*|L2HGDH_ENST00000421284.3_Nonsense_Mutation_p.G57*			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	57			G -> R (in L2HGA).		2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					CCCACAATTCCGCCACCAACG	0.388000													16	42					3.99206e-14	4.40124e-14	1	1	0
MPP2	4355	broad.mit.edu	37	17	41958910	41958910	+	Silent	SNP	G	G	A	rs146551557	byFrequency	TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr17:41958910G>A	ENST00000269095.4	-	7	1033	c.729C>T	c.(727-729)ctC>ctT	p.L243L	MPP2_ENST00000520305.1_Silent_p.L104L|MPP2_ENST00000461854.1_Silent_p.L267L|MPP2_ENST00000377184.3_Silent_p.L260L|MPP2_ENST00000536246.1_Silent_p.L232L|MPP2_ENST00000518766.1_Silent_p.L288L|MPP2_ENST00000523501.1_Silent_p.L232L	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	267					signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TGCAGGGGATGAGGCTGTCTC	0.597000													8	32					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37229556	37229556	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:37229556G>C	ENST00000233099.5	-	32	5305	c.5210C>G	c.(5209-5211)tCt>tGt	p.S1737C	HEATR5B_ENST00000354531.2_Intron	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1737							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GTGACTTGGAGAGTCTGACAC	0.443000													28	90					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13781027	13781027	+	Silent	SNP	C	C	A	rs145381989		TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr5:13781027C>A	ENST00000265104.4	-	53	8966	c.8862G>T	c.(8860-8862)ctG>ctT	p.L2954L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2954	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCACCCCGACCAGGAGGGCAT	0.463000									Kartagener syndrome				9	41					0.000442599	0.000452868	1	1	0
PARPBP	55010	broad.mit.edu	37	12	102558258	102558258	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr12:102558258C>T	ENST00000327680.2	+	6	758	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L	PARPBP_ENST00000543784.1_Silent_p.L66L|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000392911.2_Silent_p.L99L|PARPBP_ENST00000541394.1_Silent_p.L257L|PARPBP_ENST00000358383.5_Silent_p.L180L|PARPBP_ENST00000378128.3_Silent_p.L180L	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN	PARP1 binding protein	180					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding			endometrium(1)|lung(8)|urinary_tract(2)	11						ATATTTAAATCTGCTAGTGAA	0.348000													13	62					0	0	1	0	0
ZNF574	64763	broad.mit.edu	37	19	42583410	42583410	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:42583410G>A	ENST00000600245.1	+	2	1307	c.652G>A	c.(652-654)Gag>Aag	p.E218K	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Missense_Mutation_p.E218K|ZNF574_ENST00000222339.7_Missense_Mutation_p.E308K			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CAAGTGCTCTGAGTGCTCCCA	0.612000													5	92					0	0	1	0	0
IFRD1	3475	broad.mit.edu	37	7	112096062	112096062	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr7:112096062G>T	ENST00000403825.3	+	3	466	c.205G>T	c.(205-207)Gaa>Taa	p.E69*	IFRD1_ENST00000005558.4_Nonsense_Mutation_p.E69*|IFRD1_ENST00000535603.1_Nonsense_Mutation_p.E19*|IFRD1_ENST00000429071.1_Nonsense_Mutation_p.E69*	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	69					multicellular organismal development|myoblast cell fate determination		binding	p.E69K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						CTTAGGACCAGAAGTCCTTGA	0.368000													3	42					0.004672	0.00469328	1	1	0
SLK	9748	broad.mit.edu	37	10	105777993	105777993	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr10:105777993G>T	ENST00000369755.3	+	14	3498	c.2953G>T	c.(2953-2955)Gag>Tag	p.E985*	SLK_ENST00000474260.1_3'UTR|SLK_ENST00000335753.4_Nonsense_Mutation_p.E954*	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	985					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCAGAAGGCAGAGTTAGCTAA	0.343000													6	27					0.000157383	0.000162925	1	1	0
GART	2618	broad.mit.edu	37	21	34900500	34900500	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr21:34900500C>G	ENST00000381831.3	-	10	1302	c.1039G>C	c.(1039-1041)Gac>Cac	p.D347H	GART_ENST00000361093.5_Missense_Mutation_p.D347H|GART_ENST00000381839.3_Missense_Mutation_p.D347H|GART_ENST00000381815.4_Missense_Mutation_p.D347H	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	347					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TTGGTGTAGTCTCCAGGATAA	0.517000													21	45					0	0	1	0	0
DNAJC1	64215	broad.mit.edu	37	10	22208774	22208774	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr10:22208774C>A	ENST00000376980.3	-	5	912	c.622G>T	c.(622-624)Gaa>Taa	p.E208*		NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	208					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TCATTTTTTTCTGAAGCACCG	0.289000													9	166					2.27111e-07	2.43097e-07	1	1	0
IQGAP2	10788	broad.mit.edu	37	5	75989253	75989253	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr5:75989253G>C	ENST00000274364.6	+	31	4276	c.3979G>C	c.(3979-3981)Gca>Cca	p.A1327P	IQGAP2_ENST00000396234.3_Missense_Mutation_p.A823P|IQGAP2_ENST00000502745.1_Missense_Mutation_p.A823P|IQGAP2_ENST00000379730.3_Missense_Mutation_p.A829P|CTD-2384B11.2_ENST00000507514.1_RNA	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1327					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AGAGACACCAGCAACTGCGCA	0.373000													5	41					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65026896	65026896	+	Missense_Mutation	SNP	G	G	A	rs144201451		TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr16:65026896G>A	ENST00000394156.3	-	5	1018	c.565C>T	c.(565-567)Ccc>Tcc	p.P189S	CDH11_ENST00000566827.1_Missense_Mutation_p.P63S|CDH11_ENST00000268603.4_Missense_Mutation_p.P189S			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	189	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.P189S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCATAAGTGGGGTCATCTGCA	0.408000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			18	38					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10920140	10920140	+	Silent	SNP	T	T	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr21:10920140T>G	ENST00000298232.7	-	18	1427	c.1060A>C	c.(1060-1062)Agg>Cgg	p.R354R	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.R372R|TPTE_ENST00000342420.5_Silent_p.R334R	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	372	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCTGTTCGCCTTTCTCCAAAA	0.383000													12	84					0	0	1	0	0
C20orf196	149840	broad.mit.edu	37	20	5753598	5753598	+	Silent	SNP	C	C	T	rs148670343		TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr20:5753598C>T	ENST00000303142.6	+	2	174	c.87C>T	c.(85-87)taC>taT	p.Y29Y	C20orf196_ENST00000378979.4_Silent_p.Y29Y	NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	29										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						TAAGAGATTACGTCCTGCAGG	0.517000													5	67					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42839192	42839192	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:42839192G>A	ENST00000334370.4	+	4	1199	c.564G>A	c.(562-564)ctG>ctA	p.L188L	MEGF8_ENST00000251268.6_Silent_p.L188L	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	188	EGF-like 2.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CGCAGCCCCTGGGACCATGCC	0.582000													7	30					0	0	1	0	0
ING1	3621	broad.mit.edu	37	13	111367942	111367942	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr13:111367942G>A	ENST00000375774.3	+	1	614	c.152G>A	c.(151-153)cGa>cAa	p.R51Q	ING1_ENST00000333219.7_Intron|ING1_ENST00000375775.3_Intron|ING1_ENST00000464141.1_Intron|ING1_ENST00000338450.7_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	51					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GAGGGTGGACGAGTTGATTTG	0.602000													4	30					0	0	1	0	0
MEF2A	4205	broad.mit.edu	37	15	100211576	100211576	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr15:100211576G>A	ENST00000338042.6	+	4	626	c.307G>A	c.(307-309)Gat>Aat	p.D103N	MEF2A_ENST00000557785.1_Missense_Mutation_p.D103N|MEF2A_ENST00000449277.2_Missense_Mutation_p.D35N|MEF2A_ENST00000558812.1_Missense_Mutation_p.D35N|MEF2A_ENST00000453228.2_Missense_Mutation_p.D103N|MEF2A_ENST00000557942.1_Missense_Mutation_p.D103N|MEF2A_ENST00000354410.5_Intron			Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	103					apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TGATGCTGACGATTACTTTGA	0.378000													18	71					0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50145669	50145669	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr3:50145669C>T	ENST00000347869.3	+	14	1299	c.1124C>T	c.(1123-1125)tCa>tTa	p.S375L	RBM5_ENST00000441812.2_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	375	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTCAGTATTCACAGGATTAT	0.398000													11	89					0	0	1	0	0
SLX4IP	128710	broad.mit.edu	37	20	10582462	10582462	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr20:10582462G>C	ENST00000334534.5	+	6	580	c.400G>C	c.(400-402)Gat>Cat	p.D134H		NM_001009608.1	NP_001009608.1			SLX4 interacting protein																		TCAGAATGAAGATTTGGTGAG	0.333000													5	41					0	0	1	0	0
PCNXL4	64430	broad.mit.edu	37	14	60574649	60574649	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr14:60574649C>G	ENST00000406854.1	+	2	847	c.293C>G	c.(292-294)tCa>tGa	p.S98*	PCNXL4_ENST00000391611.2_Nonsense_Mutation_p.S98*|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000404681.2_Nonsense_Mutation_p.S98*|PCNXL4_ENST00000317623.4_Intron					pecanex-like 4 (Drosophila)																		AAAAACAAATCAACAACAGTA	0.383000													7	24					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23066062	23066062	+	Silent	SNP	G	G	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr20:23066062G>T	ENST00000246006.4	-	1	915	c.768C>A	c.(766-768)ctC>ctA	p.L256L		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	256					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGCTGACACAGAGGGGGCCCG	0.602000													15	98					0.000219431	0.000226626	1	1	0
SCN5A	6331	broad.mit.edu	37	3	38607931	38607931	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr3:38607931G>A	ENST00000413689.1	-	21	4002	c.3809C>T	c.(3808-3810)gCc>gTc	p.A1270V	SCN5A_ENST00000414099.2_Missense_Mutation_p.A1270V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A1216V|SCN5A_ENST00000333535.4_Missense_Mutation_p.A1270V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A1269V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A1269V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A1269V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A1270V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A1216V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A1216V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1270					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCAGCACCAGGCATTGGTGAA	0.552000													4	52					0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50144985	50144985	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr3:50144985C>T	ENST00000347869.3	+	12	1199	c.1024C>T	c.(1024-1026)Cag>Tag	p.Q342*	RBM5_ENST00000441812.2_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	342	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCTGCTGCTCAGTGGTCATC	0.507000													7	46					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1367597	1367597	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr3:1367597T>A	ENST00000446702.2	+	9	1672	c.1045T>A	c.(1045-1047)Tat>Aat	p.Y349N	CNTN6_ENST00000350110.2_Missense_Mutation_p.Y349N|CNTN6_ENST00000539053.1_Missense_Mutation_p.Y277N			Q9UQ52	CNTN6_HUMAN	contactin 6	349	Ig-like C2-type 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAACCCTTGGTATACATGGTT	0.378000													10	43					0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32332958	32332958	+	Silent	SNP	G	G	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr20:32332958G>T	ENST00000375200.1	+	3	557	c.192G>T	c.(190-192)tcG>tcT	p.S64S	ZNF341_ENST00000342427.2_Silent_p.S64S	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	64					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						AATTCAACTCGCTGCCAGCGT	0.562000													14	51					7.93312e-07	8.43014e-07	1	1	0
PDE1B	5153	broad.mit.edu	37	12	54970359	54970359	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr12:54970359C>T	ENST00000243052.3	+	14	1817	c.1381C>T	c.(1381-1383)Cag>Tag	p.Q461*	PDE1B_ENST00000394277.3_3'UTR|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000538346.1_Nonsense_Mutation_p.Q420*|PDE1B_ENST00000550620.1_Nonsense_Mutation_p.Q441*	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	461	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TTCTAGCTTTCAGTGGCGCCA	0.572000													3	19					0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173910450	173910450	+	Silent	SNP	T	T	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:173910450T>C	ENST00000367696.2	-	19	3555	c.3204A>G	c.(3202-3204)ccA>ccG	p.P1068P	RC3H1_ENST00000258349.4_Silent_p.P1068P|RC3H1_ENST00000367694.2_Silent_p.P1059P			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	1068					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TTTGTGGTTCTGGTTGTCCAT	0.368000													4	92					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41600901	41600901	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:41600901G>C	ENST00000330436.3	+	8	1199	c.1199G>C	c.(1198-1200)aGa>aCa	p.R400T		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	400					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TCCGTGCTGAGAGACCCCAGG	0.547000													6	96					0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53241885	53241885	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr12:53241885C>T	ENST00000359499.4	-	2	86	c.75G>A	c.(73-75)caG>caA	p.Q25Q	KRT78_ENST00000304620.4_Silent_p.Q135Q			Q8N1N4	K2C78_HUMAN	keratin 78	135	Gly-rich.|Head.		R -> H (in dbSNP:rs11170289).			keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GGACCTTGTTCTGCTGCTCCA	0.607000													3	21					0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	5924783	5924783	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr9:5924783C>G	ENST00000399933.3	-	7	2560	c.2561G>C	c.(2560-2562)aGa>aCa	p.R854T	KIAA2026_ENST00000381461.2_Missense_Mutation_p.R824T	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	854										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CCATAGTTCTCTATTAAATGT	0.373000													19	56					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47632823	47632823	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr20:47632823G>A	ENST00000371917.4	+	31	4186	c.4186G>A	c.(4186-4188)Gag>Aag	p.E1396K		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1396					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CCAGAAATCTGAGTGGATGAC	0.378000													31	56					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1229217	1229217	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr10:1229217C>T	ENST00000381312.1	-	10	2461	c.2136G>A	c.(2134-2136)caG>caA	p.Q712Q	ADARB2_ENST00000381305.1_Silent_p.Q114Q|ADARB2_ENST00000381310.3_Silent_p.Q221Q	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	712	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCTTGAACAGCTGCTGTTTCA	0.622000													11	31					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057061	9057061	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:9057061C>G	ENST00000397910.4	-	3	30588	c.30385G>C	c.(30385-30387)Gct>Cct	p.A10129P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10131	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGTATGTAGCCTTGGATGGC	0.468000													4	34					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23776605	23776605	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr7:23776605G>A	ENST00000354639.3	+	8	1320	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.E309K|STK31_ENST00000355870.3_Missense_Mutation_p.E309K|STK31_ENST00000428484.1_Missense_Mutation_p.E286K	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	309							ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.E309*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ACTGATTGAAGAAAATGAAAA	0.378000													9	33					0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54074950	54074950	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:54074950G>A	ENST00000253144.9	+	6	1435	c.102G>A	c.(100-102)gtG>gtA	p.V34V	ZNF331_ENST00000512387.1_Silent_p.V34V|ZNF331_ENST00000511593.2_Silent_p.V34V|ZNF331_ENST00000511154.1_Silent_p.V34V|ZNF331_ENST00000513265.1_Silent_p.V34V|ZNF331_ENST00000449416.1_Silent_p.V34V|ZNF331_ENST00000411977.2_Silent_p.V34V|ZNF331_ENST00000513999.1_Silent_p.V34V	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		ACTGGGACGTGATGCTGGAGA	0.522000			T	?	follicular thyroid adenoma								10	155					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155575620	155575620	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr6:155575620C>T	ENST00000461783.3	+	28	5654	c.4381C>T	c.(4381-4383)Cac>Tac	p.H1461Y	RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000456877.2_Missense_Mutation_p.H773Y|TIAM2_ENST00000456144.1_Missense_Mutation_p.H1490Y|TIAM2_ENST00000360366.4_Missense_Mutation_p.H1485Y|TIAM2_ENST00000318981.5_Missense_Mutation_p.H1461Y|TIAM2_ENST00000529824.2_Missense_Mutation_p.H1490Y|TIAM2_ENST00000528391.2_Missense_Mutation_p.H797Y|TIAM2_ENST00000275246.7_Missense_Mutation_p.H386Y|TIAM2_ENST00000367174.2_Missense_Mutation_p.H837Y			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1461	PH 2.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTTCAGGCGTCACATAAAGTG	0.458000													7	43					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587514	42587514	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr8:42587514G>A	ENST00000289957.2	+	5	1192	c.1064G>A	c.(1063-1065)cGc>cAc	p.R355H		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	355					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CATGTGGATCGCTACTCATCC	0.443000													11	23					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100379279	100379279	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:100379279C>T	ENST00000294724.4	+	30	4624	c.4146C>T	c.(4144-4146)acC>acT	p.T1382T	AGL_ENST00000361522.4_Silent_p.T1365T|AGL_ENST00000370161.2_Silent_p.T1366T|AGL_ENST00000361915.3_Silent_p.T1382T|AGL_ENST00000370163.3_Silent_p.T1382T|AGL_ENST00000361302.3_Silent_p.T1366T|AGL_ENST00000370165.3_Silent_p.T1382T	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1382					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CTAATTTTACCATAGCAATGG	0.363000													11	95					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44845599	44845599	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr20:44845599C>T	ENST00000372262.3	-	4	1104	c.704G>A	c.(703-705)cGc>cAc	p.R235H	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Missense_Mutation_p.R235H	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	235	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)				CTGGCTCTCGCGGTCAAGGTC	0.652000													6	85					0	0	1	0	0
MCCC1	56922	broad.mit.edu	37	3	182769955	182769955	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr3:182769955A>G	ENST00000492597.1	-	8	1322	c.620T>C	c.(619-621)gTt>gCt	p.V207A	MCCC1_ENST00000539926.1_Missense_Mutation_p.V181A|MCCC1_ENST00000265594.4_Missense_Mutation_p.V316A			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	316	ATP-grasp.|Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	ACCTGCTCCAACATAATTTAC	0.338000													4	37					0	0	1	0	0
FBLN7	129804	broad.mit.edu	37	2	112940424	112940424	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:112940424G>A	ENST00000331203.2	+	6	998	c.727G>A	c.(727-729)Gcc>Acc	p.A243T	FBLN7_ENST00000409903.1_Missense_Mutation_p.A243T|FBLN7_ENST00000409667.3_Intron|FBLN7_ENST00000409450.3_Missense_Mutation_p.A197T	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	243	EGF-like 2; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CTGCATGCACGCCTGCGTGAA	0.617000													14	51					0	0	1	0	0
TMEM257	9142	broad.mit.edu	37	X	144909442	144909442	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chrX:144909442C>G	ENST00000408967.2	+	1	515	c.247C>G	c.(247-249)Cat>Gat	p.H83D		NM_004709.2	NP_004700.1			transmembrane protein 257																		GACGTATGAGCATCAGCACAG	0.388000													5	18					0	0	1	0	0
CES2	8824	broad.mit.edu	37	16	66977802	66977802	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr16:66977802G>A	ENST00000317091.4	+	12	2730	c.1746G>A	c.(1744-1746)ctG>ctA	p.L582L	RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Silent_p.L566L	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	518					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		AGCAATACCTGCAGCTGAACC	0.622000													18	17					0	0	1	0	0
REC8	9985	broad.mit.edu	37	14	24648050	24648050	+	Silent	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr14:24648050C>G	ENST00000311457.3	+	15	1727	c.1128C>G	c.(1126-1128)ctC>ctG	p.L376L	REC8_ENST00000559919.1_Silent_p.L376L			O95072	REC8_HUMAN	REC8 meiotic recombination protein	377	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CAAAAGCCCTCAGGCGAGAGC	0.572000													60	158					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103510	168103510	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr2:168103510G>A	ENST00000409195.1	+	9	5697	c.5608G>A	c.(5608-5610)Gcc>Acc	p.A1870T	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.A1870T|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.A1648T|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1695					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAACATGCTAGCCACACTCAA	0.383000													16	33					0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55926955	55926955	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr11:55926955A>G	ENST00000313447.1	-	1	838	c.839T>C	c.(838-840)tTa>tCa	p.L280S		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GGGGATTACTAAAGTGTAAAA	0.383000													7	44					0	0	1	0	0
TNNI3K	51086	broad.mit.edu	37	1	75009625	75009625	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:75009625C>G	ENST00000370891.2	+	27	2786	c.2770C>G	c.(2770-2772)Cat>Gat	p.H924D	TNNI3K_ENST00000465473.1_3'UTR|TNNI3K_ENST00000326637.3_Missense_Mutation_p.H823D|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.H937D	NM_001112808.2	NP_001106279.2			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						AATGCATTTTCATTCTTGCCG	0.423000													16	41					0	0	1	0	0
LTBP3	4054	broad.mit.edu	37	11	65307976	65307976	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr11:65307976C>T	ENST00000301873.5	-	22	3355	c.3087G>A	c.(3085-3087)ggG>ggA	p.G1029G	LTBP3_ENST00000529189.1_Silent_p.G32G|LTBP3_ENST00000536982.1_Silent_p.G655G|LTBP3_ENST00000322147.4_Silent_p.G1029G|LTBP3_ENST00000532932.1_Silent_p.G459G|LTBP3_ENST00000530785.1_Silent_p.G32G	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	1029	EGF-like 10; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CCAGCAGGTTCCCGTCGTAGT	0.662000											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	22					0	0	1	0	0
TMED8	283578	broad.mit.edu	37	14	77810143	77810143	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr14:77810143C>T	ENST00000216468.7	-	4	406	c.351G>A	c.(349-351)caG>caA	p.Q117Q		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	117					transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CCCCAGACCTCTGTGGAACTT	0.448000													30	89					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186017916	186017916	+	Nonsense_Mutation	SNP	T	T	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:186017916T>A	ENST00000271588.4	+	42	6751	c.6522T>A	c.(6520-6522)tgT>tgA	p.C2174*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.C2174*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2174	Ig-like C2-type 19.				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						GTTACACTTGTGAAGCAACAA	0.353000													15	70					0	0	1	0	0
XRCC1	7515	broad.mit.edu	37	19	44056957	44056957	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:44056957C>T	ENST00000262887.5	-	8	1362	c.815G>A	c.(814-816)aGa>aAa	p.R272K	XRCC1_ENST00000543982.1_Missense_Mutation_p.R241K			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	272					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				ACATTTAGGTCTCTTGGGAAC	0.547000								Other BER factors					4	9					0	0	1	0	0
ZNF559	84527	broad.mit.edu	37	19	9452845	9452845	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:9452845T>G	ENST00000393883.2	+	6	1366	c.718T>G	c.(718-720)Ttc>Gtc	p.F240V	ZNF559_ENST00000587557.1_Missense_Mutation_p.F304V|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592896.1_3'UTR|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.F160V|ZNF559_ENST00000603380.1_Missense_Mutation_p.F240V|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000541595.2_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TGGAGAAAAATTCTATGAATG	0.363000													6	66					0	0	1	0	0
MYRF	745	broad.mit.edu	37	11	61547373	61547373	+	Silent	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr11:61547373C>T	ENST00000278836.5	+	17	2403	c.2307C>T	c.(2305-2307)atC>atT	p.I769I	MYRF_ENST00000389602.4_Silent_p.I160I|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000327797.1_Silent_p.I415I|MYRF_ENST00000265460.5_Silent_p.I760I	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		AGGGAACCATCATTGCCCTGG	0.602000													9	12					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44086652	44086652	+	Silent	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:44086652G>A	ENST00000359947.4	+	32	5848	c.5508G>A	c.(5506-5508)acG>acA	p.T1836T	PTPRF_ENST00000372413.3_Silent_p.T1827T|PTPRF_ENST00000422171.2_Silent_p.T1195T|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Silent_p.T1836T|PTPRF_ENST00000438120.1_Silent_p.T1827T	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1836	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.T1826T(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGCCTATCACGGTGCACTGCA	0.632000													3	19					0	0	1	0	0
RGS19	10287	broad.mit.edu	37	20	62707951	62707951	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr20:62707951C>A	ENST00000395042.1	-	3	345	c.79G>T	c.(79-81)Gat>Tat	p.D27Y	RGS19_ENST00000493165.1_5'UTR|RGS19_ENST00000332298.5_Missense_Mutation_p.D27Y	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	27					autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GAGGCTGTATCATGACTGGAC	0.637000													38	58					1.7489e-18	1.93786e-18	1	1	0
DCTN4	51164	broad.mit.edu	37	5	150102489	150102489	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr5:150102489G>C	ENST00000447998.2	-	9	1003	c.888C>G	c.(886-888)ttC>ttG	p.F296L	DCTN4_ENST00000446090.2_Missense_Mutation_p.F303L|DCTN4_ENST00000424236.1_Missense_Mutation_p.F239L	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	296						centrosome|nucleus	protein N-terminus binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGGATTTTGAATTTGATTG	0.343000													6	16					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103412917	103412917	+	Silent	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr14:103412917G>C	ENST00000361246.2	-	28	3924	c.3636C>G	c.(3634-3636)ctC>ctG	p.L1212L		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1212	PH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GGATGGACTGGAGTCCTTCTA	0.512000													10	41					0	0	1	0	0
ACBD3	64746	broad.mit.edu	37	1	226334447	226334447	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:226334447C>T	ENST00000366812.5	-	8	1505	c.1451G>A	c.(1450-1452)cGa>cAa	p.R484Q		NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	484	GOLD.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		ACAGTCCCGTCGGTACACAGG	0.473000													4	78					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56092248	56092248	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr12:56092248G>C	ENST00000257880.7	-	8	1462	c.1243C>G	c.(1243-1245)Ctc>Gtc	p.L415V	ITGA7_ENST00000452168.2_Missense_Mutation_p.L278V|ITGA7_ENST00000553804.1_Missense_Mutation_p.L375V|ITGA7_ENST00000394230.2_Missense_Mutation_p.L375V|ITGA7_ENST00000347027.6_Missense_Mutation_p.L371V|ITGA7_ENST00000394229.2_Missense_Mutation_p.L371V|ITGA7_ENST00000555728.1_Missense_Mutation_p.L415V|ITGA7_ENST00000257879.6_Missense_Mutation_p.L371V			Q13683	ITA7_HUMAN	integrin, alpha 7	415					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CAGAGCCGGAGAGGGGAGATC	0.607000													12	34					0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107408354	107408354	+	Splice_Site	SNP	C	C	G			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr7:107408354C>G	ENST00000340010.5	-	19	2247		c.e19-1		SLC26A3_ENST00000422236.2_Splice_Site	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3						excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ATGAAGTCATCTGAAGAGAAA	0.348000													6	33					0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67926158	67926158	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr11:67926158G>C	ENST00000304363.4	-	11	2008	c.1655C>G	c.(1654-1656)tCt>tGt	p.S552C		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CTTGATGTCAGAGGCCTCCTT	0.537000													16	101					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111772435	111772435	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr12:111772435G>C	ENST00000261726.6	+	19	3271	c.3117G>C	c.(3115-3117)gaG>gaC	p.E1039D		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1039						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCATCCAGGAGATCGTGGCCA	0.617000													5	11					0	0	1	0	0
EQTN	54586	broad.mit.edu	37	9	27289694	27289694	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr9:27289694C>A	ENST00000380032.3	-	6	540	c.457G>T	c.(457-459)Gat>Tat	p.D153Y	EQTN_ENST00000537675.1_Missense_Mutation_p.D124Y	NM_020641.2	NP_065692.2			equatorin, sperm acrosome associated																		AATAATTGATCTTTATCATCC	0.383000													6	74					8.12818e-05	8.43419e-05	1	1	0
DAND5	199699	broad.mit.edu	37	19	13080799	13080799	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:13080799G>A	ENST00000317060.2	+	1	503		c.e1+1		DAND5_ENST00000585548.1_Splice_Site	NM_152654.2	NP_689867.1	Q8N907	DAND5_HUMAN	DAN domain family member 5, BMP antagonist							extracellular region				kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			CTTCGTTCAGGTGAGTGGGTG	0.597000													7	30					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27106804	27106804	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:27106804delC	ENST00000324856.7	+	20	6786	c.6415delC	c.(6415-6417)cccfs	p.P2140fs	ARID1A_ENST00000540690.1_Frame_Shift_Del_p.P468fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.P1757fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.P1923fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2140					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.F2141fs*59(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCTGGCCACACCCCCCTTCAG	0.587			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								15	76	---	---	---	---					
KCNN3	3782	broad.mit.edu	37	1	154842199	154842200	+	In_Frame_Ins	INS	-	-	GCTGCT	rs58327065		TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr1:154842199_154842200insGCTGCT	ENST00000271915.4	-	1	556_557	c.241_242insAGCAGC	c.(241-243)cca>cAGCAGCca	p.80_81insQQ		NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3		Poly-Gln.					integral to membrane	calmodulin binding	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GGGATGCGGTGgctgctgctgc	0.698													4	6	---	---	---	---					
PCDHGA2	56113	broad.mit.edu	37	5	140719309	140719309	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr5:140719309delG	ENST00000394576.2	+	1	771	c.771delG	c.(769-771)gtgfs	p.V257fs	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATACGCTCGTGGGCACCCGGA	0.552													11	95	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149482640	149482640	+	RNA	DEL	C	C	-			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr7:149482640delC	ENST00000378016.2	+	0	3056							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)			GCATCAGGCGCCCCCCACTAT	0.652													10	5	---	---	---	---					
CPSF1	29894	broad.mit.edu	37	8	145618927	145618928	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr8:145618927_145618928insTA	ENST00000349769.3	-	36	4193_4194	c.4099_4100insTA	c.(4099-4101)accfs	p.T1367fs	CPSF1_ENST00000531727.1_5'UTR	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1367					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)			CAGCATGGTGGTCAGCGCGTTC	0.728													2	4	---	---	---	---					
MALAT1	378938	broad.mit.edu	37	11	65268616	65268617	+	RNA	INS	-	-	T			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr11:65268616_65268617insT	ENST00000534336.1	+	0	3384_3385					NR_002819.2																						TAGATGACCTGTTTTTACTTCC	0.386													10	26	---	---	---	---					
NDUFC2	4718	broad.mit.edu	37	11	77784147	77784147	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr11:77784147delA	ENST00000281031.4	-	2	681	c.207delT	c.(205-207)tttfs	p.F69fs	NDUFC2_ENST00000525085.1_Intron|NDUFC2_ENST00000527806.1_Frame_Shift_Del_p.F69fs|NDUFC2_ENST00000534029.1_Intron|NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2_ENST00000528164.1_Frame_Shift_Del_p.F69fs|NDUFC2-KCTD14_ENST00000530054.1_Frame_Shift_Del_p.F69fs	NM_001204055.1|NM_004549.5	NP_001190984.1|NP_004540.1			NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa									p.F69fs*7(1)		large_intestine(1)|lung(2)|prostate(1)	4	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			AATATCCAGCAAAAAAAAAGG	0.358													7	89	---	---	---	---					
CSPG4P5	114817	broad.mit.edu	37	15	84958415	84958426	+	RNA	DEL	CGAGGACATTGG	CGAGGACATTGG	-			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr15:84958415_84958426delCGAGGACATTGG	ENST00000558801.1	-	0	6303_6314																											TCGGGCACCACGAGGACATTGGTGAGGACAGG	0.557													2	4	---	---	---	---					
RP11-19N8.4	0	broad.mit.edu	37	16	33070209	33070209	+	RNA	DEL	C	C	-			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr16:33070209delC	ENST00000561541.1	-	0	291																											CATTATTTTGCCCCCCCGTCG	0.582													2	4	---	---	---	---					
STAT5A	6776	broad.mit.edu	37	17	40453382	40453393	+	In_Frame_Del	DEL	TGAACGTGCACA	TGAACGTGCACA	-			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr17:40453382_40453393delTGAACGTGCACA	ENST00000345506.4	+	10	1721_1732	c.1079_1090delTGAACGTGCACA	c.(1078-1092)ctgaacgtgcacatg>ctg	p.NVHM361del	STAT5A_ENST00000590949.1_In_Frame_Del_p.NVHM361del|STAT5A_ENST00000588868.1_In_Frame_Del_p.NVHM361del|STAT5A_ENST00000452307.2_In_Frame_Del_p.NVHM361del|STAT5A_ENST00000546010.2_In_Frame_Del_p.NVHM331del	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	361					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GGCGGGAAGCTGAACGTGCACATGAATCCCCC	0.557													7	84	---	---	---	---					
ZNF563	147837	broad.mit.edu	37	19	12430217	12430217	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XF-A9SP-01A-11D-A391-08	TCGA-XF-A9SP-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d4e5554-0dc1-4dcc-8399-37844b0e1eaa	d76a147b-e76e-4150-b43d-8c92ebd3fc00	g.chr19:12430217delA	ENST00000293725.5	-	4	827	c.622delT	c.(622-624)tggfs	p.W208fs	ZNF563_ENST00000595977.1_Intron	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAACTGGGCCAAAAAAAAGCT	0.393													7	141	---	---	---	---					
