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
IFI44L	10964	broad.mit.edu	37	1	79094635	79094635	+	Splice_Site	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:79094635G>T	ENST00000370751.4	+	3	657		c.e3-1		IFI44L_ENST00000342282.3_Splice_Site|IFI44L_ENST00000476521.1_Splice_Site	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like							cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ATTTCCTATAGGAATTAAGGA	0.308000													12	29					1.5739e-10	1.90775e-10	1	1	0
DCHS2	54798	broad.mit.edu	37	4	155158151	155158151	+	Silent	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr4:155158151G>A	ENST00000357232.3	-	25	6287	c.6288C>T	c.(6286-6288)gtC>gtT	p.V2096V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2096	Cadherin 19.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TATAGGATTTGACTGTGAATT	0.423000													4	160					0	0	1	0	0
THY1	7070	broad.mit.edu	37	11	119291006	119291006	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr11:119291006G>A	ENST00000284240.5	-	3	1167	c.128C>T	c.(127-129)aCc>aTc	p.T43I	THY1_ENST00000528522.1_Missense_Mutation_p.T43I|THY1_ENST00000580275.1_Missense_Mutation_p.T26I|USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000498979.2_RNA|THY1_ENST00000527590.1_5'UTR|USP2-AS1_ENST00000578923.1_RNA	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	43	Ig-like V-type.				angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|integrin binding|Rho GTPase activator activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		TGAACTGCTGGTATTCTCATG	0.597000													23	44					0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62226340	62226340	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr17:62226340C>A	ENST00000258991.3	-	12	3478	c.3394G>T	c.(3394-3396)Gat>Tat	p.D1132Y	TEX2_ENST00000583097.1_Missense_Mutation_p.D1125Y|TEX2_ENST00000584379.1_Missense_Mutation_p.D1125Y			Q8IWB9	TEX2_HUMAN	testis expressed 2	1125					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CATGGCTGATCAGCAGCCTCC	0.517000													10	91					6.40141e-05	6.95806e-05	1	1	0
CDH9	1007	broad.mit.edu	37	5	26881724	26881724	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:26881724C>T	ENST00000231021.4	-	12	2063	c.1891G>A	c.(1891-1893)Gtg>Atg	p.V631M		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	631					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GCAAACAACACGACTAAAACT	0.388000													5	27					0	0	1	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104206830	104206830	+	Silent	SNP	A	A	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr14:104206830A>T	ENST00000202556.9	-	12	2205	c.1923T>A	c.(1921-1923)ccT>ccA	p.P641P	PPP1R13B_ENST00000423488.2_Silent_p.P60P|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	641	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TACTTTCTGAAGGTGGCTGAG	0.622000													25	54					0	0	1	0	0
ZIM2	23619	broad.mit.edu	37	19	57301308	57301308	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr19:57301308G>C	ENST00000391708.3	-	9	951	c.409C>G	c.(409-411)Cag>Gag	p.Q137E	ZIM2_ENST00000593711.1_Missense_Mutation_p.Q137E|ZIM2_ENST00000599935.1_Missense_Mutation_p.Q137E|ZIM2_ENST00000601070.1_Missense_Mutation_p.Q137E|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.Q137E|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		ACAGAGTCCTGAGCAAGGAAA	0.522000													8	16					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													3	64					0	0	1	0	0
MPPED2	744	broad.mit.edu	37	11	30433051	30433051	+	Silent	SNP	T	T	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr11:30433051T>G	ENST00000358117.5	-	6	971	c.849A>C	c.(847-849)ccA>ccC	p.P283P	MPPED2_ENST00000524667.1_5'UTR|MPPED2_ENST00000448418.2_Intron	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	283					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						CAAATATAATTGGAGGGTTGG	0.453000													23	22					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240070927	240070927	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:240070927C>A	ENST00000255380.4	+	5	955	c.176C>A	c.(175-177)cCt>cAt	p.P59H		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	59					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ACCGATGACCCTCTGGGAGGT	0.552000													40	26					1.76056e-25	2.41172e-25	1	1	0
KLHL10	317719	broad.mit.edu	37	17	39994186	39994186	+	Translation_Start_Site	SNP	T	T	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr17:39994186T>C	ENST00000293303.4	+	1	155	c.2T>C	c.(1-3)aTg>aCg	p.M1T	KLHL10_ENST00000485613.1_3'UTR	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	1						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				CAGGGTGCCATGGAGATGGAG	0.592000													68	96					0	0	1	0	0
MCOLN3	55283	broad.mit.edu	37	1	85510827	85510827	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:85510827C>T	ENST00000370587.1	-	3	593	c.217G>A	c.(217-219)Gtg>Atg	p.V73M	MCOLN3_ENST00000341115.4_Missense_Mutation_p.V73M|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370589.2_Missense_Mutation_p.V73M			Q8TDD5	MCLN3_HUMAN	mucolipin 3	73						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TGGATAGTCACCATTGCAATT	0.343000													13	19					0	0	1	0	0
GPR174	84636	broad.mit.edu	37	X	78427044	78427044	+	Silent	SNP	C	C	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chrX:78427044C>G	ENST00000276077.1	+	1	576	c.540C>G	c.(538-540)gcC>gcG	p.A180A		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	180						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TCAACCTGGCCCAGTCCGTTG	0.463000										HNSCC(63;0.18)			35	28					0	0	1	0	0
GNAL	2774	broad.mit.edu	37	18	11752513	11752513	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr18:11752513G>C	ENST00000423027.3	+	1	402	c.81G>C	c.(79-81)aaG>aaC	p.K27N	GNAL_ENST00000535121.1_Missense_Mutation_p.K27N|GNAL_ENST00000269162.5_Missense_Mutation_p.K27N|GNAL_ENST00000334049.6_Intron			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	27					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						CCAACAAAAAGATCGAGAAGC	0.637000													4	61					0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96953381	96953381	+	Silent	SNP	T	T	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr14:96953381T>C	ENST00000267584.4	+	17	2165	c.2121T>C	c.(2119-2121)ccT>ccC	p.P707P		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	707	DPY-30.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CCGAAGACCCTGTTGATTTTC	0.428000													23	40					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107562812	107562812	+	Silent	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr9:107562812C>T	ENST00000374736.3	-	35	5146	c.4752G>A	c.(4750-4752)ctG>ctA	p.L1584L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1584					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTTTGGTGTCCAGTCCTGTCA	0.393000													9	107					0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78201660	78201660	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr17:78201660C>G	ENST00000361193.3	+	7	917	c.637C>G	c.(637-639)Ctg>Gtg	p.L213V	SLC26A11_ENST00000572725.1_Missense_Mutation_p.L213V|SLC26A11_ENST00000411502.3_Missense_Mutation_p.L213V|SLC26A11_ENST00000546047.2_Missense_Mutation_p.L213V	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	213						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCTGCTGCTGCTGGTGCTGAA	0.682000													4	159					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188828	140188828	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:140188828G>C	ENST00000530339.1	+	1	2056	c.2056G>C	c.(2056-2058)Gct>Cct	p.A686P	PCDHA4_ENST00000512229.2_Missense_Mutation_p.A686P|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A686P|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1												p.A686T(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGGTGGGCGCTGTGGGTCC	0.642000													15	32					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55161113	55161113	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:55161113G>C	ENST00000414150.2	+	17	3192	c.2914G>C	c.(2914-2916)Gag>Cag	p.E972Q	MROH7_ENST00000395690.2_Missense_Mutation_p.E972Q|MROH7_ENST00000454855.2_Missense_Mutation_p.E490Q|MROH7_ENST00000409996.1_Missense_Mutation_p.E540Q|MROH7_ENST00000421030.2_Missense_Mutation_p.E972Q|MROH7_ENST00000339553.5_Missense_Mutation_p.E972Q|MROH7_ENST00000545244.1_Intron					maestro heat-like repeat family member 7																		CCCGCTCCTGGAGCGAGGCGA	0.667000													9	19					0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6965958	6965958	+	Silent	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr12:6965958C>T	ENST00000229268.8	+	6	724	c.672C>T	c.(670-672)ttC>ttT	p.F224F	USP5_ENST00000389231.5_Silent_p.F224F	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	224	Substrate binding.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GACGCTACTTCGATGGCAGTG	0.577000													6	109					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151164743	151164743	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr3:151164743C>G	ENST00000282466.3	-	4	3025	c.3026G>C	c.(3025-3027)cGc>cCc	p.R1009P		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1009					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCTCCCAAAGCGTCTGAACAG	0.488000													31	47					0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48142639	48142639	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr12:48142639C>T	ENST00000405493.2	-	11	1200	c.991G>A	c.(991-993)Gcc>Acc	p.A331T	RAPGEF3_ENST00000449771.2_Missense_Mutation_p.A373T|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.A373T|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.A331T|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.A373T|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.A331T|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.A331T	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	331					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GAAGGGCCGGCGCCCTGAGAG	0.597000													8	82					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117681123	117681123	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr12:117681123C>A	ENST00000317775.6	-	19	3626	c.2941G>T	c.(2941-2943)Gaa>Taa	p.E981*	NOS1_ENST00000338101.4_Nonsense_Mutation_p.E1015*|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	981					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCTGGAGCTTCGGCCACAAAG	0.517000													25	47					1.17739e-12	1.49037e-12	1	1	0
ROR1	4919	broad.mit.edu	37	1	64516358	64516358	+	Splice_Site	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:64516358G>T	ENST00000371079.1	+	4	827	c.451_splice	c.e4-1	p.G151_splice	ROR1_ENST00000371080.1_Splice_Site_p.G151_splice|ROR1_ENST00000482426.1_3'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	151					transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						ATTTCTTCAGGCCCCCCTCCC	0.398000													56	135					3.09758e-43	4.42512e-43	1	1	0
CHD9	80205	broad.mit.edu	37	16	53260328	53260328	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr16:53260328A>G	ENST00000566029.1	+	5	2156	c.1947A>G	c.(1945-1947)atA>atG	p.I649M	CHD9_ENST00000564845.1_Missense_Mutation_p.I649M|CHD9_ENST00000447540.1_Missense_Mutation_p.I649M|CHD9_ENST00000398510.3_Missense_Mutation_p.I649M			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	649	Lys-rich.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CAGAAGATATAGAAGGGAAGC	0.299000													6	12					0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33405994	33405994	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr6:33405994G>A	ENST00000418600.2	+	8	1413	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.A438T|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.A379T	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	438					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CTTGGAGCCCGCCCTGAATGT	0.512000													94	169					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022413	51022413	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr19:51022413C>T	ENST00000599957.1	-	3	754	c.557G>A	c.(556-558)cGc>cAc	p.R186H	LRRC4B_ENST00000389201.3_Missense_Mutation_p.R186H			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	186						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CAGGTCCAGGCGCCGCAGCGA	0.652000													8	28					0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29883532	29883532	+	Silent	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr16:29883532G>A	ENST00000308713.5	-	16	3206	c.2679C>T	c.(2677-2679)ttC>ttT	p.F893F	SEZ6L2_ENST00000346932.5_Silent_p.F792F|SEZ6L2_ENST00000350527.3_Silent_p.F836F|SEZ6L2_ENST00000537485.1_Silent_p.F862F	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	893						endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCGGGTTGCTGAAGTCCGACT	0.587000													5	28					0	0	1	0	0
AP3B1	8546	broad.mit.edu	37	5	77477446	77477446	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:77477446G>A	ENST00000255194.6	-	8	1002	c.827C>T	c.(826-828)tCt>tTt	p.S276F	AP3B1_ENST00000519295.1_Missense_Mutation_p.S227F	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	276					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ATCATCATCAGATTCGTAGAA	0.348000									Hermansky-Pudlak syndrome				9	15					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179616751	179616751	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr2:179616751C>A	ENST00000360870.5	-	46	10598	c.10376G>T	c.(10375-10377)gGg>gTg	p.G3459V	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3464							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)			TTCAGATTCCCCCTCAGAGAA	0.323000													18	89					3.51602e-12	4.39502e-12	1	1	0
MEGF10	84466	broad.mit.edu	37	5	126755842	126755842	+	Silent	SNP	C	C	T	rs151266058	byFrequency	TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:126755842C>T	ENST00000274473.6	+	13	1800	c.1533C>T	c.(1531-1533)gaC>gaT	p.D511D	MEGF10_ENST00000418761.2_Silent_p.D511D|MEGF10_ENST00000508365.1_Silent_p.D511D|MEGF10_ENST00000503335.2_Silent_p.D511D	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	511	EGF-like 9.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.D511D(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ACACCCTGGACGGGACCTGCA	0.592000													30	61					0	0	1	0	0
SAMD4A	23034	broad.mit.edu	37	14	55218249	55218249	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr14:55218249G>T	ENST00000251091.5	+	4	1211	c.906G>T	c.(904-906)ttG>ttT	p.L302F	SAMD4A_ENST00000554335.1_Missense_Mutation_p.L390F|SAMD4A_ENST00000357634.3_Missense_Mutation_p.L389F|SAMD4A_ENST00000392067.3_Missense_Mutation_p.L390F	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	390					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						TGAAGTCTTTGGAAAGGGTAA	0.373000													7	83					0.00448238	0.00469359	1	1	0
TACC2	10579	broad.mit.edu	37	10	124013514	124013514	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr10:124013514A>C	ENST00000369005.1	+	23	9130	c.8790A>C	c.(8788-8790)gaA>gaC	p.E2930D	TACC2_ENST00000369000.1_Missense_Mutation_p.E553D|TACC2_ENST00000358010.1_Missense_Mutation_p.E1076D|TACC2_ENST00000513429.1_Missense_Mutation_p.E1076D|TACC2_ENST00000334433.3_Missense_Mutation_p.E2930D|TACC2_ENST00000360561.3_Missense_Mutation_p.E978D|TACC2_ENST00000453444.2_Missense_Mutation_p.E2857D|TACC2_ENST00000369004.3_Missense_Mutation_p.E990D|TACC2_ENST00000260733.3_Missense_Mutation_p.E1008D|TACC2_ENST00000515603.1_Missense_Mutation_p.E2808D|TACC2_ENST00000369001.1_Missense_Mutation_p.E557D|TACC2_ENST00000515273.1_Missense_Mutation_p.E2857D|TACC2_ENST00000368999.1_Missense_Mutation_p.E1020D	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2930						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGAATAAAGAAATAGAAGAAC	0.433000													13	44					0	0	1	0	0
GFRA3	2676	broad.mit.edu	37	5	137600050	137600050	+	Silent	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:137600050G>A	ENST00000274721.3	-	2	525	c.279C>T	c.(277-279)ctC>ctT	p.L93L	GFRA3_ENST00000378362.3_Silent_p.L93L	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	93					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGCTGTTCCTGAGTTGCTGTG	0.597000													8	31					0	0	1	0	0
DNA2	1763	broad.mit.edu	37	10	70225496	70225496	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr10:70225496T>A	ENST00000399180.2	-	4	772	c.773A>T	c.(772-774)aAt>aTt	p.N258I	DNA2_ENST00000399179.2_Missense_Mutation_p.N172I|DNA2_ENST00000358410.3_Missense_Mutation_p.N172I			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	172					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						GGCAAAGCTATTATTTATGGC	0.368000													6	12					0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104471666	104471666	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr14:104471666C>A	ENST00000409874.4	+	15	1685	c.1637C>A	c.(1636-1638)cCg>cAg	p.P546Q	TDRD9_ENST00000339063.5_Missense_Mutation_p.P546Q	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	546					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ATGGGTGAGCCGAGAGCTCTG	0.468000													3	46					1	1	1	1	0
TRDMT1	1787	broad.mit.edu	37	10	17204237	17204237	+	Splice_Site	SNP	C	C	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr10:17204237C>G	ENST00000377799.3	-	4	299		c.e4-1		TRDMT1_ENST00000452380.2_Splice_Site|TRDMT1_ENST00000351358.4_Intron|TRDMT1_ENST00000377766.5_Intron|TRDMT1_ENST00000412821.3_Intron|TRDMT1_ENST00000457442.2_Splice_Site|TRDMT1_ENST00000358282.7_Intron|TRDMT1_ENST00000488990.1_Intron	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1						tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						CCGGCCAATCCTAAAGGGGTa	0.318000													21	50					0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551197	248551197	+	Silent	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:248551197C>A	ENST00000355728.2	+	1	288	c.288C>A	c.(286-288)gcC>gcA	p.A96A		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A96E(1)|p.A96A(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTTTCATCGCCTGCACTGCTC	0.532000													60	34					1.17004e-41	1.65964e-41	1	1	0
HOXC9	3225	broad.mit.edu	37	12	54394137	54394137	+	Silent	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr12:54394137C>T	ENST00000303450.4	+	1	235	c.165C>T	c.(163-165)ttC>ttT	p.F55F	HOXC9_ENST00000508190.1_Silent_p.F55F|HOXC9_ENST00000504557.1_Intron	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	55					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						CCTGTAGCTTCGCGCCCAAGC	0.687000													3	40					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3235828	3235828	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chrX:3235828C>G	ENST00000217939.6	-	6	6048	c.5894G>C	c.(5893-5895)gGa>gCa	p.G1965A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1965	Ig-like C2-type 4.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AATGGTGTCTCCCAGGTAGAC	0.582000													4	20					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65491330	65491330	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr15:65491330A>G	ENST00000261883.4	-	9	1460	c.1294T>C	c.(1294-1296)Tgc>Cgc	p.C432R		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	432					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TTAACAGGGCAGCGTCCCACG	0.527000													4	35					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19338673	19338673	+	Silent	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr19:19338673G>A	ENST00000252575.5	+	8	2287	c.2244G>A	c.(2242-2244)acG>acA	p.T748T	NCAN_ENST00000538881.1_Silent_p.T199T	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	748					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTGAGCCAACGGGCCTCAGGG	0.582000													8	79					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2676956	2676956	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr12:2676956A>T	ENST00000399655.1	+	13	2156	c.1891A>T	c.(1891-1893)Acg>Tcg	p.T631S	CACNA1C_ENST00000399601.1_Missense_Mutation_p.T631S|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T631S|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T631S|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T631S|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T631S|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T631S|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T631S|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T631S|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T631S|CACNA1C_ENST00000347598.4_Missense_Mutation_p.T631S|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T631S|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T631S|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T631S|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T631S|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T631S|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T631S|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T656S|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T631S|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T631S|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T631S|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T631S|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T631S	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	631					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TTTCAAGATCACGAGGTACTG	0.602000													8	11					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214170908	214170908	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:214170908G>C	ENST00000366958.4	+	2	1638	c.1030G>C	c.(1030-1032)Gaa>Caa	p.E344Q	PROX1_ENST00000498508.2_Missense_Mutation_p.E344Q|PROX1_ENST00000435016.1_Missense_Mutation_p.E344Q|PROX1_ENST00000261454.4_Missense_Mutation_p.E344Q	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	344					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CTTACAACCGGAAGGCAAACA	0.512000													20	63					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40655667	40655667	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr2:40655667C>T	ENST00000406785.1	-	2	1943	c.1754G>A	c.(1753-1755)gGg>gAg	p.G585E	SLC8A1_ENST00000542756.1_Missense_Mutation_p.G585E|SLC8A1_ENST00000408028.2_Missense_Mutation_p.G585E|SLC8A1_ENST00000406391.2_Missense_Mutation_p.G585E|SLC8A1_ENST00000405901.3_Missense_Mutation_p.G585E|SLC8A1_ENST00000405269.1_Missense_Mutation_p.G585E|SLC8A1_ENST00000403092.1_Missense_Mutation_p.G585E|SLC8A1_ENST00000402441.1_Missense_Mutation_p.G585E|SLC8A1_ENST00000332839.4_Missense_Mutation_p.G585E|SLC8A1_ENST00000542024.1_Missense_Mutation_p.G585E			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	585	Calx-beta 2.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AAAATCCTCCCCTCCACCTCT	0.428000													16	40					0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157772326	157772326	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:157772326C>A	ENST00000358292.3	-	4	499	c.448G>T	c.(448-450)Ggg>Tgg	p.G150W	FCRL1_ENST00000368176.3_Missense_Mutation_p.G150W|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.G150W	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	150	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCTACAGCCCCTTTGTACCAA	0.517000													63	68					9.42754e-34	1.31854e-33	1	1	0
TBCA	6902	broad.mit.edu	37	5	76987267	76987267	+	Silent	SNP	C	C	T	rs147194873		TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:76987267C>T	ENST00000380377.4	-	4	406	c.303G>A	c.(301-303)ctG>ctA	p.L101L	TBCA_ENST00000520361.1_Silent_p.L72L|TBCA_ENST00000517679.1_Silent_p.L112L|TBCA_ENST00000522370.1_Silent_p.L77L|TBCA_ENST00000306388.6_3'UTR|TBCA_ENST00000517881.1_5'UTR|TBCA_ENST00000518338.2_Silent_p.L124L	NM_004607.2	NP_004598.1	O75347	TBCA_HUMAN	tubulin folding cofactor A	101					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway|tubulin complex assembly	cytoplasm|microtubule	chaperone binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)		TCACTGAATCCAGTACTAAAC	0.333000													3	12					0	0	1	0	0
ADGRG6	57211	broad.mit.edu	37	6	142691435	142691435	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr6:142691435G>A	ENST00000230173.6	+	4	1050	c.574G>A	c.(574-576)Gtt>Att	p.V192I	GPR126_ENST00000545477.1_Intron|GPR126_ENST00000296932.8_Missense_Mutation_p.V192I|GPR126_ENST00000367608.2_Missense_Mutation_p.V192I|GPR126_ENST00000367609.3_Missense_Mutation_p.V192I	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	192	Pentaxin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AGCAACCAAAGTTGGCCATGA	0.438000													10	8					0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56510879	56510879	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr11:56510879G>T	ENST00000302957.3	-	1	408	c.409C>A	c.(409-411)Cgc>Agc	p.R137S		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GCTGCATGGCGGTCATATGCC	0.488000													28	102					1.36615e-20	1.84614e-20	1	1	0
BCL9L	283149	broad.mit.edu	37	11	118772162	118772162	+	Missense_Mutation	SNP	G	G	A	rs148554205	byFrequency	TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr11:118772162G>A	ENST00000334801.3	-	6	3254	c.2290C>T	c.(2290-2292)Ccc>Tcc	p.P764S	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	764	Met-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGCCCCATGGGTGGGTCCACC	0.607000													4	21					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77677649	77677649	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr4:77677649C>T	ENST00000296043.6	+	8	5710	c.4757C>T	c.(4756-4758)cCt>cTt	p.P1586L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1586					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AGGCACATGCCTGGTGCAGCC	0.453000													8	21					0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28193018	28193018	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr22:28193018C>A	ENST00000302326.4	-	1	4468	c.3514G>T	c.(3514-3516)Gac>Tac	p.D1172Y		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1172							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						AGAGGCTGGTCCTCGGAGATG	0.677000			T	ETV6	"""AML, meningioma"""								3	12					0.00909568	0.0093289	1	1	0
TAS2R16	50833	broad.mit.edu	37	7	122634844	122634844	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr7:122634844G>T	ENST00000249284.2	-	1	910	c.845C>A	c.(844-846)aCg>aAg	p.T282K		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	282					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTTTTCAACGTAGGGCTGCT	0.423000													44	81					1.63429e-32	2.25419e-32	1	1	0
HLA-A	3105	broad.mit.edu	37	6	29910587	29910587	+	Nonsense_Mutation	SNP	G	G	T	rs41549014		TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr6:29910587G>T	ENST00000396634.1	+	4	468	c.127G>T	c.(127-129)Gag>Tag	p.E43*	HLA-A_ENST00000376806.5_Nonsense_Mutation_p.E43*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.E43*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.E43*			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	43	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.E43*(1)|p.R41fs*31(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CGGCCGCGGGGAGCCCCGCTT	0.706000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			3	13					1.23904e-05	1.39218e-05	1	1	0
MYPN	84665	broad.mit.edu	37	10	69934049	69934049	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr10:69934049G>A	ENST00000358913.5	+	11	2688	c.2200G>A	c.(2200-2202)Gca>Aca	p.A734T	MYPN_ENST00000354393.2_Missense_Mutation_p.A459T|MYPN_ENST00000540630.1_Missense_Mutation_p.A734T	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	734						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GAACACCACCGCAGCAACTGT	0.542000													8	169					0	0	1	0	0
SLC25A32	81034	broad.mit.edu	37	8	104419926	104419926	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr8:104419926G>A	ENST00000297578.4	-	2	407	c.241C>T	c.(241-243)Ctt>Ttt	p.L81F	SLC25A32_ENST00000543107.1_5'UTR	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	81					folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	CCTTGATAAAGTCCCCGTAGT	0.388000													55	77					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153273641	153273641	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr4:153273641A>G	ENST00000263981.5	-	1	482	c.242T>C	c.(241-243)tTa>tCa	p.L81S	FBXW7_ENST00000603841.1_Intron|FBXW7_ENST00000603548.1_Intron|FBXW7_ENST00000296555.5_Intron|FBXW7_ENST00000281708.4_Intron	NM_018315.4	NP_060785.2	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	0					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AATCATTTTTAATGTGCCGTA	0.398000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								17	43					0	0	1	0	0
CYB561A3	220002	broad.mit.edu	37	11	61124140	61124140	+	Silent	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr11:61124140G>A	ENST00000546151.1	-	3	314	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L	CYB561A3_ENST00000539890.1_Silent_p.L16L|CYB561A3_ENST00000540317.1_Intron|CYB561A3_ENST00000294072.4_Silent_p.L16L|CYB561A3_ENST00000447532.2_Silent_p.L16L|CYB561A3_ENST00000544118.1_Silent_p.L16L|CYB561A3_ENST00000536915.1_Silent_p.L16L|CYB561A3_ENST00000426130.2_Silent_p.L33L					cytochrome b561 family, member A3																		ATAGAGCCCAGGGACCCCAGC	0.527000													6	79					0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47916917	47916917	+	Silent	SNP	C	C	T	rs139510335	by1000genomes	TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr21:47916917C>T	ENST00000318711.7	+	4	483	c.300C>T	c.(298-300)gcC>gcT	p.A100A	DIP2A_ENST00000457905.3_Silent_p.A100A|DIP2A_ENST00000427143.2_Silent_p.A36A|DIP2A_ENST00000417564.2_Silent_p.A100A|DIP2A_ENST00000400274.1_Silent_p.A100A|DIP2A_ENST00000435722.3_Silent_p.A100A|DIP2A_ENST00000466639.1_Silent_p.A100A	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	100					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ACACTGAAGCCGTGCAAGCAG	0.408000													5	22					0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76372201	76372201	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr11:76372201C>A	ENST00000407242.2	-	3	678	c.436G>T	c.(436-438)Ggg>Tgg	p.G146W	LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Missense_Mutation_p.G146W|LRRC32_ENST00000404995.1_Missense_Mutation_p.G146W	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	146						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GGTGCCTCCCCCAGCAGCCGC	0.677000													12	27					6.40141e-05	6.95806e-05	1	1	0
CHI3L1	1116	broad.mit.edu	37	1	203154346	203154346	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:203154346T>A	ENST00000255409.3	-	3	348	c.223A>T	c.(223-225)Acg>Tcg	p.T75S		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	75					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						CCGTAGAGCGTCACATCATTC	0.577000													12	132					0	0	1	0	0
HSPA13	6782	broad.mit.edu	37	21	15750686	15750686	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr21:15750686C>A	ENST00000285667.3	-	3	481	c.414G>T	c.(412-414)gaG>gaT	p.E138D	HSPA13_ENST00000544452.1_Intron|HSPA13_ENST00000478035.1_5'UTR	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	138						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						CTGTGATGGTCTCATTACTTG	0.368000													10	38					1.61879e-10	1.95035e-10	1	1	0
BTBD11	121551	broad.mit.edu	37	12	107713770	107713770	+	Silent	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr12:107713770G>A	ENST00000280758.5	+	1	1581	c.1053G>A	c.(1051-1053)ctG>ctA	p.L351L	BTBD11_ENST00000420571.2_Silent_p.L351L|BTBD11_ENST00000490090.2_Silent_p.L351L	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	351						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGGAGACCCTGGAGCACACGG	0.682000													11	25					0	0	1	0	0
HOMER2	9455	broad.mit.edu	37	15	83523419	83523419	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr15:83523419C>G	ENST00000304231.8	-	6	853	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	HOMER2_ENST00000399166.2_Intron|HOMER2_ENST00000426485.1_Intron|HOMER2_ENST00000450735.2_Missense_Mutation_p.E210Q	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	221					metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						CGGTCATTCTCATCACGGCAG	0.622000													6	16					0	0	1	0	0
CISH	1154	broad.mit.edu	37	3	50645182	50645182	+	Silent	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr3:50645182C>A	ENST00000443053.2	-	4	911	c.684G>T	c.(682-684)gtG>gtT	p.V228V	CISH_ENST00000348721.3_Silent_p.V211V	NM_013324.5	NP_037456.5	Q9NSE2	CISH_HUMAN	cytokine inducible SH2-containing protein	211	SOCS box.				intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CAAAGGGCTGCACCAGTTTTA	0.637000													41	95					6.87076e-12	8.53511e-12	1	1	0
MYCBP2	23077	broad.mit.edu	37	13	77847655	77847655	+	Silent	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr13:77847655G>A	ENST00000407578.2	-	5	1163	c.897C>T	c.(895-897)atC>atT	p.I299I	MYCBP2_ENST00000357337.6_Silent_p.I261I|MYCBP2_ENST00000544440.2_Silent_p.I261I|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGATAGCAGAGATGGCCTGAA	0.428000													21	29					0	0	1	0	0
LY6G6D	58530	broad.mit.edu	37	6	31675858	31675858	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr6:31675858G>T	ENST00000503322.1	+	3	596	c.593G>T	c.(592-594)aGa>aTa	p.R198I	LY6G6F_ENST00000556581.1_Missense_Mutation_p.R198I|XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000375832.4_Missense_Mutation_p.R198I																							CGAAGACCAAGAATCATCCGC	0.577000													6	139					3.09899e-07	3.56205e-07	1	1	0
NCOA2	10499	broad.mit.edu	37	8	71075726	71075726	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr8:71075726C>T	ENST00000452400.2	-	8	987	c.806G>A	c.(805-807)aGt>aAt	p.S269N		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	269					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AGTAGTAAAACTTTCTGATGA	0.393000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								17	31					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190010	209190010	+	Silent	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr2:209190010G>T	ENST00000264380.4	+	20	2633	c.2475G>T	c.(2473-2475)ctG>ctT	p.L825L		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	825					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CCAAGACACTGATGTTTTTTG	0.378000													5	26					0.00198382	0.00208823	1	1	0
GID8	54994	broad.mit.edu	37	20	61574378	61574378	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr20:61574378C>A	ENST00000266069.3	+	3	305	c.158C>A	c.(157-159)tCt>tAt	p.S53Y		NM_017896.2	NP_060366.1			GID complex subunit 8																		CGAATGGAATCTGGAATCGAA	0.438000													5	70					0.248553	0.253625	1	1	0
IFI44L	10964	broad.mit.edu	37	1	79094636	79094636	+	Splice_Site	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:79094636G>T	ENST00000370751.4	+	3	658	c.478_splice	c.e3-1	p.G160_splice	IFI44L_ENST00000342282.3_5'UTR|IFI44L_ENST00000476521.1_3'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	160						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						TTTCCTATAGGAATTAAGGAT	0.303000													12	29					3.41278e-10	4.06284e-10	1	1	0
SIGLEC14	100049587	broad.mit.edu	37	19	52147227	52147227	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr19:52147227C>T	ENST00000360844.6	-	5	858	c.817G>A	c.(817-819)Gcc>Acc	p.A273T	SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000534261.2_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	273	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		ACTGTGCAGGCGAGGAACAGG	0.617000													6	9					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10702967	10702967	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:10702967T>A	ENST00000377022.3	-	20	4428	c.4111A>T	c.(4111-4113)Atg>Ttg	p.M1371L	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CTCCGGTCCATGGTGGATGAC	0.662000													11	17					0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	549247	549247	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr6:549247T>A	ENST00000230449.4	-	22	2301	c.2166A>T	c.(2164-2166)gaA>gaT	p.E722D	EXOC2_ENST00000448181.3_Missense_Mutation_p.E317D	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	722					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		AGGTGTGACGTTCTAGATAGC	0.383000													42	80					0	0	1	0	0
NXF1	10482	broad.mit.edu	37	11	62571439	62571439	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr11:62571439C>G	ENST00000531709.2	-	2	153	c.40G>C	c.(40-42)Gaa>Caa	p.E14Q	NXF1_ENST00000294172.2_Missense_Mutation_p.E14Q|NXF1_ENST00000532297.1_Missense_Mutation_p.E14Q|NXF1_ENST00000531131.1_Intron|NXF1_ENST00000439713.2_Missense_Mutation_p.E14Q	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	14	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTAACGCGTTCATCATCGTGT	0.448000													14	69					0	0	1	0	0
PRKD2	25865	broad.mit.edu	37	19	47181778	47181778	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr19:47181778C>A	ENST00000433867.1	-	17	2690	c.2213G>T	c.(2212-2214)gGc>gTc	p.G738V	PRKD2_ENST00000601806.1_Missense_Mutation_p.G581V|PRKD2_ENST00000600194.1_Missense_Mutation_p.G581V|PRKD2_ENST00000595515.1_Missense_Mutation_p.G738V|PRKD2_ENST00000291281.4_Missense_Mutation_p.G738V	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	738	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CATGATCACGCCCACTGACCA	0.617000													20	47					9.95505e-16	1.30988e-15	1	1	0
SALL1	6299	broad.mit.edu	37	16	51171263	51171263	+	Silent	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr16:51171263C>T	ENST00000440970.1	-	3	3875	c.3444G>A	c.(3442-3444)ctG>ctA	p.L1148L	SALL1_ENST00000541611.1_Silent_p.L68L|SALL1_ENST00000251020.4_Silent_p.L1245L|SALL1_ENST00000566102.1_3'UTR	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1245					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCTTCATCGCCAGCCCGTTGG	0.552000													13	34					0	0	1	0	0
RP11-383H13.1	0	broad.mit.edu	37	8	72755864	72755864	+	Silent	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr8:72755864C>T	ENST00000537896.1	+	1	498	c.228C>T	c.(226-228)tgC>tgT	p.C76C	MSC_ENST00000325509.4_Intron|RP11-383H13.1_ENST00000524152.1_5'UTR|RP11-383H13.1_ENST00000521467.1_Intron																lung(1)	1						CGAATCCTTGCGCGCCGCGCC	0.647000											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	40					0	0	1	0	0
ANGEL2	90806	broad.mit.edu	37	1	213186478	213186478	+	Silent	SNP	G	G	A	rs138048743		TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:213186478G>A	ENST00000366962.3	-	2	496	c.342C>T	c.(340-342)aaC>aaT	p.N114N	ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000540642.1_Intron|ANGEL2_ENST00000535388.1_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	114										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CTCCCTCAGCGTTCATGACGT	0.403000													30	101					0	0	1	0	0
STRN3	29966	broad.mit.edu	37	14	31371778	31371778	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr14:31371778C>T	ENST00000355683.5	-	14	2064	c.1849G>A	c.(1849-1851)Gaa>Aaa	p.E617K	STRN3_ENST00000357479.5_Missense_Mutation_p.E701K	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	701					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TGTCTATCTTCATGAGCAGTT	0.294000													5	74					0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921866	78921866	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr15:78921866C>G	ENST00000261751.3	-	5	892	c.781G>C	c.(781-783)Ggc>Cgc	p.G261R	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	261					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						ATCTTCTCGCCGCAGTCGGAT	0.567000													7	84					0	0	1	0	0
EXOC5	10640	broad.mit.edu	37	14	57676740	57676740	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr14:57676740C>A	ENST00000413566.2	-	16	2012	c.1653G>T	c.(1651-1653)ttG>ttT	p.L551F	EXOC5_ENST00000340918.7_Missense_Mutation_p.L486F	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	551					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						GTTCTGCAGCCAAAATATGCT	0.289000													3	12					0.004672	0.00484145	1	1	0
FAM134B	54463	broad.mit.edu	37	5	16572124	16572124	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:16572124C>A	ENST00000306320.9	-	2	494	c.408G>T	c.(406-408)atG>atT	p.M136I		NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	136					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						TAGACAAAACCATATCCTTTA	0.363000													8	54					3.09899e-07	3.56205e-07	1	1	0
FHOD3	80206	broad.mit.edu	37	18	34273362	34273362	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr18:34273362C>T	ENST00000257209.4	+	14	1809	c.1687C>T	c.(1687-1689)Cca>Tca	p.P563S	FHOD3_ENST00000359247.4_Missense_Mutation_p.P546S|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000590592.1_Missense_Mutation_p.P738S|FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000445677.1_Missense_Mutation_p.P525S	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	546					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TGCCTCCTCCCCAGGAACCCC	0.572000													5	24					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				23	54					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23803877	23803877	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr4:23803877T>A	ENST00000264867.2	-	11	2230	c.2111A>T	c.(2110-2112)gAg>gTg	p.E704V	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	704	RRM.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGTGCACTCCTCAATTTCACC	0.418000													60	25					0	0	1	0	0
DIO3	1735	broad.mit.edu	37	14	102028667	102028667	+	Silent	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr14:102028667C>T	ENST00000510508.4	+	1	980	c.834C>T	c.(832-834)gaC>gaT	p.D278D	DIO3_ENST00000359323.3_Silent_p.D252D			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	252					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				GTGGCCCCGACGGCTACCAGG	0.597000													3	58					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516913	140516913	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:140516913G>A	ENST00000231134.5	+	1	2114	c.1897G>A	c.(1897-1899)Gac>Aac	p.D633N		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		633	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCGAGCGCGACGCGGCCAA	0.692000													24	49					0	0	1	0	0
CCDC116	164592	broad.mit.edu	37	22	21991356	21991356	+	Silent	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr22:21991356C>A	ENST00000292779.3	+	5	2000	c.1839C>A	c.(1837-1839)gtC>gtA	p.V613V		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	0										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					aggaTGGAGTCTAGAGCCTCC	0.562000													3	7					0.004672	0.00484145	1	1	0
KCNH5	27133	broad.mit.edu	37	14	63416975	63416975	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr14:63416975C>A	ENST00000322893.7	-	7	1513	c.1245G>T	c.(1243-1245)aaG>aaT	p.K415N	KCNH5_ENST00000394964.2_Missense_Mutation_p.K357N|KCNH5_ENST00000394968.1_Missense_Mutation_p.K357N|KCNH5_ENST00000420622.2_Missense_Mutation_p.K415N	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	415					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACAATGAATCCTTGCTGGGTC	0.463000													22	53					1.1804e-14	1.52309e-14	1	1	0
SMG1	23049	broad.mit.edu	37	16	18893522	18893522	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr16:18893522G>A	ENST00000446231.2	-	10	1670	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	SMG1_ENST00000389467.3_Missense_Mutation_p.R420W|SMG1_ENST00000565224.1_Missense_Mutation_p.R394W			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	420	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GGAGGACCCCGAATTGGGCTG	0.438000													6	10					0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189609	124189609	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr11:124189609C>T	ENST00000357438.2	-	1	575	c.485G>A	c.(484-486)cGc>cAc	p.R162H		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		CACTGACATGCGGGTAGTATG	0.453000													28	37					0	0	1	0	0
FBXO34	55030	broad.mit.edu	37	14	55818909	55818909	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr14:55818909A>G	ENST00000313833.4	+	2	2046	c.1801A>G	c.(1801-1803)Acc>Gcc	p.T601A	FBXO34_ENST00000440021.1_Missense_Mutation_p.T601A	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	601	F-box.									breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CCTTAAATGTACCTGCTGCTA	0.448000													34	34					0	0	1	0	0
HRH2	3274	broad.mit.edu	37	5	175110362	175110362	+	Silent	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:175110362C>A	ENST00000231683.2	+	1	1899	c.126C>A	c.(124-126)gcC>gcA	p.A42A	HRH2_ENST00000377291.2_Silent_p.A42A	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	42					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	TCTGTCTGGCCGTGGGCTTGA	0.587000													60	148					1.34159e-35	1.88957e-35	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139606389	139606389	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr8:139606389G>C	ENST00000303045.6	-	63	4932	c.4486C>G	c.(4486-4488)Caa>Gaa	p.Q1496E	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.Q1476E	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1496	Collagen-like 15.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGTCTGCCTTGAGATGACTTC	0.617000										HNSCC(7;0.00092)			3	40					0	0	1	0	0
CLEC2D	29121	broad.mit.edu	37	12	9845494	9845494	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr12:9845494G>T	ENST00000261340.7	+	4	450	c.428G>T	c.(427-429)tGg>tTg	p.W143L	CLEC2D_ENST00000545918.1_Intron|CLEC2D_ENST00000261339.6_Missense_Mutation_p.W106L|CLEC2D_ENST00000543300.1_Intron|CLEC2D_ENST00000290855.6_Missense_Mutation_p.W143L	NM_001004419.4	NP_001004419.1	Q9UHP7	CLC2D_HUMAN	C-type lectin domain family 2, member D	143	C-type lectin.				cell surface receptor linked signaling pathway	cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction	sugar binding|transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|stomach(1)	9						GGCCAACCATGGAAATGGATA	0.358000													14	32					5.3912e-06	6.12637e-06	1	1	0
SLCO6A1	133482	broad.mit.edu	37	5	101813454	101813454	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:101813454C>G	ENST00000506729.1	-	3	899	c.728G>C	c.(727-729)gGa>gCa	p.G243A	SLCO6A1_ENST00000389019.3_Intron|SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G243A|SLCO6A1_ENST00000379810.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	243						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AAGAGGCATTCCTGCTATTCC	0.408000													53	97					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262605	45262605	+	Silent	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:45262605G>A	ENST00000303230.4	-	8	2148	c.2091C>T	c.(2089-2091)tgC>tgT	p.C697C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	697						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGGTGTAGGAGCAGGGTGACA	0.642000													11	31					0	0	1	0	0
HOXA10	3206	broad.mit.edu	37	7	27211592	27211592	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr7:27211592G>A	ENST00000283921.4	-	2	1158	c.1159C>T	c.(1159-1161)Cgc>Tgc	p.R387C	HOXA10_ENST00000396344.4_Missense_Mutation_p.R71C|HOXA10_ENST00000521421.1_5'UTR|RP1-170O19.20_ENST00000470747.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	387				R -> P (in Ref. 7; AAD14030/AAD14031).	spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						TTCATCCTGCGGTTCTGAAAC	0.478000													5	53					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140534477	140534477	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr7:140534477G>A	ENST00000288602.6	-	3	496	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	146					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GGGTTGCTCCGTGCCACATCT	0.438000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				26	61					0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69318050	69318050	+	Splice_Site	SNP	A	A	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr2:69318050A>G	ENST00000303714.4	+	9	1024	c.703_splice	c.e9+1	p.G234_splice	ANTXR1_ENST00000409349.3_Splice_Site_p.G234_splice|ANTXR1_ENST00000409829.3_Splice_Site_p.G234_splice	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	234					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TATGTGCAGGAGGTAAATTGA	0.388000									Familial Infantile Hemangioma				4	48					0	0	1	0	0
DPY19L1	23333	broad.mit.edu	37	7	34989430	34989430	+	Silent	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr7:34989430C>T	ENST00000310974.4	-	14	1326	c.1182G>A	c.(1180-1182)gaG>gaA	p.E394E		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	394						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TAAAGTCAAACTCCGCTGCAC	0.338000													7	28					0	0	1	0	0
RNASEL	6041	broad.mit.edu	37	1	182553258	182553258	+	Silent	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:182553258G>T	ENST00000367559.3	-	3	1777	c.1524C>A	c.(1522-1524)atC>atA	p.I508I	RNASEL_ENST00000444138.1_Silent_p.I508I|RNASEL_ENST00000539397.1_Silent_p.I508I	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	508	Protein kinase.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CAGCCCACTTGATGCTCTTAT	0.393000													28	107					6.00712e-18	8.06325e-18	1	1	0
HIF3A	64344	broad.mit.edu	37	19	46838184	46838184	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr19:46838184C>A	ENST00000339613.2	+	14	1940	c.1685C>A	c.(1684-1686)cCa>cAa	p.P562Q	HIF3A_ENST00000420102.2_Missense_Mutation_p.P567Q|HIF3A_ENST00000600383.1_Missense_Mutation_p.P549Q|HIF3A_ENST00000300862.3_Missense_Mutation_p.P616Q|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000377670.4_Missense_Mutation_p.P618Q|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000244303.6_Missense_Mutation_p.P549Q			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	618	ODD.				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)		ACAGGAGGACCAGCCCCAGGG	0.567000													8	31					5.16669e-11	6.33949e-11	1	1	0
DUSP27	92235	broad.mit.edu	37	1	167082975	167082975	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:167082975G>A	ENST00000361200.2	+	3	305	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	DUSP27_ENST00000443333.1_Missense_Mutation_p.E47K|DUSP27_ENST00000271385.5_Missense_Mutation_p.E47K			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	47					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TGCAGAAACAGAAAGCATTTT	0.428000													18	410					0	0	1	0	0
EMR2	30817	broad.mit.edu	37	19	14875276	14875276	+	Silent	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr19:14875276C>T	ENST00000315576.3	-	11	1504	c.1053G>A	c.(1051-1053)ggG>ggA	p.G351G	EMR2_ENST00000595839.1_Silent_p.G209G|EMR2_ENST00000353876.1_Silent_p.G258G|EMR2_ENST00000392965.3_Silent_p.G351G|EMR2_ENST00000353005.1_Silent_p.G209G|EMR2_ENST00000392967.2_Silent_p.G351G|EMR2_ENST00000596991.2_Silent_p.G351G|EMR2_ENST00000601345.1_Silent_p.G351G|EMR2_ENST00000346057.1_Silent_p.G302G|EMR2_ENST00000594294.1_Silent_p.G302G|EMR2_ENST00000594076.1_Silent_p.G258G|EMR2_ENST00000392964.3_Silent_p.G90G	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	351					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						AGTTCAACAGCCCATTGGAAA	0.572000													4	26					0	0	1	0	0
C9	735	broad.mit.edu	37	5	39341264	39341264	+	Nonsense_Mutation	SNP	G	G	A	rs144138616		TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:39341264G>A	ENST00000263408.4	-	4	555	c.460C>T	c.(460-462)Cga>Tga	p.R154*	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	154	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		p.R154*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CCTGCTGTTCGTGCCAGCTCA	0.458000													41	111					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172554999	172554999	+	Splice_Site	SNP	A	A	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:172554999A>T	ENST00000367723.3	+	16	2149	c.2023_splice	c.e16-1	p.G675_splice	SUCO_ENST00000263688.3_Splice_Site_p.G523_splice	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		TTAAAATAGGAAATAAAAGTA	0.343000													103	127					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073114	134073114	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr4:134073114G>A	ENST00000264360.4	+	1	2645	c.1819G>A	c.(1819-1821)Gac>Aac	p.D607N		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	607	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D607Y(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGCCGCCGTGGACGCGGACGA	0.692000													14	51					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141625810	141625810	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr2:141625810C>T	ENST00000389484.3	-	26	5163	c.4192G>A	c.(4192-4194)Gat>Aat	p.D1398N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1398					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)		AAATTTGCATCCCAGTCTGTC	0.353000										TSP Lung(27;0.18)			7	39					0	0	1	0	0
CNOT11	55571	broad.mit.edu	37	2	101885540	101885540	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr2:101885540A>T	ENST00000289382.3	+	6	1440	c.1277A>T	c.(1276-1278)cAc>cTc	p.H426L		NM_017546.4	NP_060016.3			CCR4-NOT transcription complex, subunit 11																		GAATTTATTCACCTTTATATA	0.299000													6	27					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133375030	133375030	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr12:133375030G>T	ENST00000204726.3	-	9	2392	c.1834C>A	c.(1834-1836)Cac>Aac	p.H612N	GOLGA3_ENST00000450791.2_Missense_Mutation_p.H612N|GOLGA3_ENST00000456883.2_Missense_Mutation_p.H612N|GOLGA3_ENST00000537452.1_Missense_Mutation_p.H612N|GOLGA3_ENST00000545875.1_Missense_Mutation_p.H612N	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	612	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		AGTTTCAGGTGCTCCAGGAGA	0.517000													18	48					6.94344e-10	8.16876e-10	1	1	0
DNAH3	55567	broad.mit.edu	37	16	20952737	20952737	+	Silent	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr16:20952737G>A	ENST00000261383.3	-	59	11639	c.11640C>T	c.(11638-11640)ctC>ctT	p.L3880L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3880					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGAATCTGATGAGCTCCTGCC	0.493000													155	262					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91134202	91134202	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chrX:91134202C>T	ENST00000373094.1	+	2	3808	c.2963C>T	c.(2962-2964)cCc>cTc	p.P988L	PCDH11X_ENST00000373097.1_Missense_Mutation_p.P988L|PCDH11X_ENST00000504220.1_Missense_Mutation_p.P988L|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P988L|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P988L|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P988L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P988L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P988L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P988L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	988					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AGTTCAGATCCCTACAGCGTT	0.498000													62	57					0	0	1	0	0
DNAJC22	79962	broad.mit.edu	37	12	49745252	49745252	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr12:49745252T>A	ENST00000549441.2	+	4	2197	c.993T>A	c.(991-993)agT>agA	p.S331R	DNAJC22_ENST00000395069.3_Missense_Mutation_p.S331R			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	331	J.				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						AAGTCCTGAGTCAACCCAGGA	0.562000													10	15					0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70818036	70818036	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr16:70818036G>A	ENST00000261776.5	-	5	834	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	192					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				ATGAACTGCCGGGCATACTGG	0.522000													4	62					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													5	108					0	0	1	0	0
MTG2	26164	broad.mit.edu	37	20	60768505	60768505	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr20:60768505G>T	ENST00000370823.3	+	2	47	c.29G>T	c.(28-30)aGa>aTa	p.R10I	MTG2_ENST00000536470.1_Intron|MTG2_ENST00000436421.2_Missense_Mutation_p.R10I	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2																		TTCTCAGCAAGATTGAGGACC	0.542000													7	117					1.12685e-05	1.27328e-05	1	1	0
BAZ2A	11176	broad.mit.edu	37	12	57000043	57000043	+	Silent	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr12:57000043C>T	ENST00000179765.5	-	13	2356	c.2157G>A	c.(2155-2157)aaG>aaA	p.K719K	BAZ2A_ENST00000551812.1_Silent_p.K751K|BAZ2A_ENST00000549884.1_Silent_p.K749K|BAZ2A_ENST00000379441.3_Silent_p.K721K			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	751	Lys-rich.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TGGATTTCTTCTTAGCTTCCT	0.398000													7	30					0	0	1	0	0
FDPS	2224	broad.mit.edu	37	1	155290326	155290326	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:155290326G>A	ENST00000356657.6	+	11	1348	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	FDPS_ENST00000447866.1_Missense_Mutation_p.E330K|RUSC1-AS1_ENST00000446880.1_RNA|FDPS_ENST00000368356.4_Missense_Mutation_p.E396K|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	396					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	GGCTCTCATTGAACAGTACGC	0.547000													5	96					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176637018	176637018	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:176637018G>T	ENST00000439151.2	+	5	1663	c.1618G>T	c.(1618-1620)Ggg>Tgg	p.G540W	NSD1_ENST00000347982.4_Missense_Mutation_p.G271W|NSD1_ENST00000361032.4_Missense_Mutation_p.G437W|NSD1_ENST00000354179.4_Missense_Mutation_p.G271W	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	540					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CTTTATCTCTGGGGATATATC	0.438000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			30	53					3.11337e-16	4.12368e-16	1	1	0
GMIP	51291	broad.mit.edu	37	19	19744910	19744910	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr19:19744910G>A	ENST00000203556.4	-	19	2311	c.2174C>T	c.(2173-2175)cCg>cTg	p.P725L	GMIP_ENST00000587238.1_Missense_Mutation_p.P699L|GMIP_ENST00000445806.2_Missense_Mutation_p.P696L	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	725	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GGCTGCCCGCGGGCCGTCCGG	0.617000													4	55					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20620487	20620487	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr4:20620487G>T	ENST00000504154.1	+	37	4697	c.4445G>T	c.(4444-4446)tGc>tTc	p.C1482F	SLIT2_ENST00000273739.5_Missense_Mutation_p.C1495F|SLIT2_ENST00000503837.1_Missense_Mutation_p.C1478F|SLIT2_ENST00000503823.1_Missense_Mutation_p.C1474F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1482	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CGATTAGAGTGCAGAGGTGGG	0.527000													19	14					8.10497e-08	9.42439e-08	1	1	0
FAM78B	149297	broad.mit.edu	37	1	166135391	166135391	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:166135391G>T	ENST00000338353.3	-	2	684	c.95C>A	c.(94-96)aCg>aAg	p.T32K	FAM78B_ENST00000354422.3_Missense_Mutation_p.T32K			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	32										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					CTCGATGCGCGTGGGGCACTG	0.647000													5	14					8.12818e-05	8.69325e-05	1	1	0
EPO	2056	broad.mit.edu	37	7	100319326	100319326	+	Splice_Site	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr7:100319326G>A	ENST00000252723.2	+	2	340	c.159_splice	c.e2+1	p.T53_splice		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	53					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity	p.T53T(1)		central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	AGAATATCACGGTGAGACCCC	0.612000													7	29					0	0	1	0	0
SLC35F4	341880	broad.mit.edu	37	14	58033208	58033208	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr14:58033208C>A	ENST00000556826.1	-	7	1437	c.1201G>T	c.(1201-1203)Gtt>Ttt	p.V401F	SLC35F4_ENST00000554729.1_Missense_Mutation_p.V278F|SLC35F4_ENST00000339762.6_Missense_Mutation_p.V437F	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTTCCAGGAACGCTGAGCACT	0.483000													5	8					8.12818e-05	8.69325e-05	1	1	0
UQCRFS1	7386	broad.mit.edu	37	19	29698679	29698679	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr19:29698679C>G	ENST00000304863.4	-	2	1023	c.601G>C	c.(601-603)Gat>Cat	p.D201H		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	201	Rieske.				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			CGATCTAGATCATGCTGTGGG	0.453000													27	93					0	0	1	0	0
ARSB	411	broad.mit.edu	37	5	78251288	78251288	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:78251288T>C	ENST00000264914.4	-	4	1264	c.728A>G	c.(727-729)gAg>gGg	p.E243G	ARSB_ENST00000396151.3_Missense_Mutation_p.E243G|ARSB_ENST00000565165.1_Missense_Mutation_p.E243G	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	243					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		CTGAAGGGGCTCATGCACAGA	0.428000													9	46					0	0	1	0	0
NR4A2	4929	broad.mit.edu	37	2	157182419	157182419	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr2:157182419C>T	ENST00000339562.4	-	8	1996	c.1634G>A	c.(1633-1635)gGg>gAg	p.G545E	NR4A2_ENST00000539077.1_Missense_Mutation_p.G556E|NR4A2_ENST00000409108.2_Silent_p.G510G|NR4A2_ENST00000409572.1_Missense_Mutation_p.G545E|NR4A2_ENST00000426264.1_Missense_Mutation_p.G482E|NR4A2_ENST00000429376.1_Silent_p.G447G	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	545					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GCGGTTCAACCCCCCATTGTT	0.478000													3	60					0	0	1	0	0
XKR5	389610	broad.mit.edu	37	8	6682698	6682698	+	RNA	SNP	T	T	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr8:6682698T>A	ENST00000518724.1	-	0	566							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TGGCACAATATCTGTGAAGTC	0.557000													9	21					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141625811	141625811	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr2:141625811C>A	ENST00000389484.3	-	26	5162	c.4191G>T	c.(4189-4191)tgG>tgT	p.W1397C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1397					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)		AATTTGCATCCCAGTCTGTCC	0.348000										TSP Lung(27;0.18)			7	39					0.00198382	0.00208823	1	1	0
IPMK	253430	broad.mit.edu	37	10	59955896	59955896	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr10:59955896C>T	ENST00000373935.3	-	6	1514	c.1192G>A	c.(1192-1194)Gga>Aga	p.G398R		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	398						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						TAAACATATCCCTCATCTATT	0.388000													20	86					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67781805	67781805	+	Silent	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr18:67781805G>A	ENST00000255674.6	-	27	3845	c.3559C>T	c.(3559-3561)Ctg>Ttg	p.L1187L	RTTN_ENST00000437017.1_Silent_p.L1187L|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1187							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GACTCTGTCAGAACCAAGAGG	0.373000													31	60					0	0	1	0	0
MYSM1	114803	broad.mit.edu	37	1	59165712	59165712	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:59165712C>G	ENST00000472487.1	-	1	52	c.13G>C	c.(13-15)Gag>Cag	p.E5Q		NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	5					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.E5*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					ACATCCGCCTCTTCAGCCGCC	0.692000													5	45					0	0	1	0	0
CAMK1D	57118	broad.mit.edu	37	10	12833187	12833187	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr10:12833187G>A	ENST00000378847.3	+	6	933	c.596G>A	c.(595-597)aGc>aAc	p.S199N	CAMK1D_ENST00000378845.1_Missense_Mutation_p.S199N	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	199	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		AAACCTTACAGCAAAGCCGTT	0.488000													27	71					0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2399124	2399124	+	Silent	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr19:2399124G>T	ENST00000332578.3	+	3	345	c.345G>T	c.(343-345)cgG>cgT	p.R115R		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	115					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)		GAGGGATCCGGGCAAGGCTGC	0.622000													10	21					2.74318e-10	3.28525e-10	1	1	0
CCDC178	374864	broad.mit.edu	37	18	30977173	30977173	+	Splice_Site	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr18:30977173C>A	ENST00000383096.3	-	4	241		c.e4-1		CCDC178_ENST00000579916.1_Splice_Site|CCDC178_ENST00000402325.1_Splice_Site|CCDC178_ENST00000583930.1_Splice_Site|CCDC178_ENST00000403303.1_Splice_Site|CCDC178_ENST00000406524.2_Splice_Site|CCDC178_ENST00000300227.8_Splice_Site|CCDC178_ENST00000579947.1_Splice_Site					coiled-coil domain containing 178																		CATGTTAAACCTATAAAAGGT	0.333000													19	37					6.33239e-15	8.22388e-15	1	1	0
OPTC	26254	broad.mit.edu	37	1	203472695	203472695	+	Silent	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:203472695C>A	ENST00000367222.2	+	7	962	c.846C>A	c.(844-846)acC>acA	p.T282T		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	282						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			TGATAGAGACCATGCAGAGAG	0.557000													42	66					1.6237e-14	2.08166e-14	1	1	0
PANK3	79646	broad.mit.edu	37	5	167988438	167988438	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:167988438T>C	ENST00000239231.6	-	5	1212	c.896A>G	c.(895-897)aAt>aGt	p.N299S	PANK3_ENST00000520504.1_5'UTR	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	299					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		ACCAATGTTATTGGTGATAGT	0.323000													12	20					0	0	1	0	0
ZBTB34	403341	broad.mit.edu	37	9	129642655	129642655	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr9:129642655A>G	ENST00000319119.4	+	2	1062	c.977A>G	c.(976-978)cAg>cGg	p.Q326R	ZBTB34_ENST00000373452.2_Missense_Mutation_p.Q322R	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CGTGCCCGCCAGAAGCGGGCT	0.567000													11	21					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81634739	81634739	+	Splice_Site	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr7:81634739C>A	ENST00000356860.3	-	18	1928	c.1590_splice	c.e18+1	p.K530_splice	CACNA2D1_ENST00000356253.5_Splice_Site_p.K530_splice	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	530	Cache.					voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	ATATACTGACCTTTGGCTGAA	0.289000													6	15					8.12818e-05	8.69325e-05	1	1	0
ARL2BP	23568	broad.mit.edu	37	16	57284415	57284415	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr16:57284415G>A	ENST00000219204.3	+	5	656	c.386G>A	c.(385-387)aGa>aAa	p.R129K	ARL2BP_ENST00000562023.1_Missense_Mutation_p.R89K|RP11-407G23.3_ENST00000564376.1_RNA	NM_012106.3	NP_036238.1	Q9Y2Y0	AR2BP_HUMAN	ADP-ribosylation factor-like 2 binding protein	129					maintenance of protein location in nucleus|positive regulation of tyrosine phosphorylation of Stat3 protein|signal transduction	centrosome|midbody|mitochondrial intermembrane space|nucleus|spindle	protein binding|small GTPase regulator activity|transcription coactivator activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|urinary_tract(1)	12						TTGGACTACAGAGCAGTAAGT	0.423000													12	26					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19337426	19337426	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr19:19337426C>A	ENST00000252575.5	+	7	1247	c.1204C>A	c.(1204-1206)Cct>Act	p.P402T		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	402					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GGTGGTCACCCCTGACTTCCA	0.597000													4	26					0.00909568	0.0093289	1	1	0
NR2E1	7101	broad.mit.edu	37	6	108492665	108492665	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr6:108492665G>A	ENST00000368986.4	+	2	737	c.29G>A	c.(28-30)cGc>cAc	p.R10H	NR2E1_ENST00000368983.3_Missense_Mutation_p.R47H	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	10					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		ATTTCAGGCCGCATTTTAGAT	0.587000													4	95					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16306818	16306818	+	Silent	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr6:16306818G>A	ENST00000244769.4	-	9	3126	c.2190C>T	c.(2188-2190)atC>atT	p.I730I	ATXN1_ENST00000436367.1_Silent_p.I730I	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	730	Interaction with USP7.|RNA-binding.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TCCCCTGGTTGATTCCGTTTT	0.587000													5	95					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84685053	84685053	+	Silent	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr7:84685053G>T	ENST00000284136.6	-	7	884	c.841C>A	c.(841-843)Cga>Aga	p.R281R	SEMA3D_ENST00000444867.1_Silent_p.R281R	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	281	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CTTCCAACTCGAGAAAGGATG	0.264000													3	60					1	1	1	1	0
ASNS	440	broad.mit.edu	37	7	97481608	97481608	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr7:97481608C>A	ENST00000175506.4	-	14	2177	c.1649G>T	c.(1648-1650)cGc>cTc	p.R550L	ASNS_ENST00000437628.1_Missense_Mutation_p.R467L|ASNS_ENST00000422745.1_Missense_Mutation_p.R529L|ASNS_ENST00000444334.1_Missense_Mutation_p.R529L|ASNS_ENST00000455086.1_Missense_Mutation_p.R467L|ASNS_ENST00000394308.3_Missense_Mutation_p.R550L|ASNS_ENST00000394309.3_Missense_Mutation_p.R550L	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	550					cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGTCAGCGTGCGGGCAGAAGG	0.512000													11	51					2.80697e-09	3.28301e-09	1	1	0
GPR128	84873	broad.mit.edu	37	3	100356215	100356215	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr3:100356215G>A	ENST00000273352.3	+	6	935	c.667G>A	c.(667-669)Gct>Act	p.A223T	GPR128_ENST00000475887.1_Silent_p.L10L	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	223					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TCAAAGAGTTGCTGCTACTGC	0.393000													35	52					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53959918	53959918	+	RNA	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr19:53959918G>T	ENST00000454407.1	+	0	2610							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AACCTTACAAGTGTAATGAGT	0.398000													36	108					3.33393e-15	4.35808e-15	1	1	0
KLK13	26085	broad.mit.edu	37	19	51563323	51563323	+	Missense_Mutation	SNP	G	G	T	rs138178458	byFrequency	TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr19:51563323G>T	ENST00000595793.1	-	3	309	c.267C>A	c.(265-267)caC>caA	p.H89Q	KLK13_ENST00000596955.1_Missense_Mutation_p.H89Q|KLK13_ENST00000335422.3_Intron|KLK13_ENST00000595547.1_Missense_Mutation_p.H89Q	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	89	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GCCCTAGGGCGTGCTTGCCTA	0.577000													12	53					8.60227e-14	1.09583e-13	1	1	0
IGSF3	3321	broad.mit.edu	37	1	117150638	117150638	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:117150638T>G	ENST00000369486.3	-	5	1913	c.1148A>C	c.(1147-1149)aAa>aCa	p.K383T	IGSF3_ENST00000318837.6_Missense_Mutation_p.K383T|IGSF3_ENST00000369483.1_Missense_Mutation_p.K383T	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	383	Ig-like C2-type 3.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GGTCACGGTTTTCTCTCGCTC	0.517000													52	86					0	0	1	0	0
NCAPH2	29781	broad.mit.edu	37	22	50956689	50956689	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr22:50956689A>T	ENST00000395701.3	+	7	722	c.628A>T	c.(628-630)Atg>Ttg	p.M210L	NCAPH2_ENST00000395698.3_Missense_Mutation_p.M210L|NCAPH2_ENST00000299821.11_Missense_Mutation_p.M210L|NCAPH2_ENST00000420993.2_Missense_Mutation_p.M210L			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	210					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CGTTTCCCCCATGCCAGGGAC	0.627000													7	32					0	0	1	0	0
MCCC2	64087	broad.mit.edu	37	5	70946009	70946009	+	Splice_Site	SNP	A	A	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:70946009A>G	ENST00000340941.6	+	15	1616	c.1488_splice	c.e15+1	p.Q496_splice	MCCC2_ENST00000323375.8_Splice_Site_p.Q458_splice	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	496	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GAAGGAAAGCAGGTCGGTGTC	0.527000													16	32					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62324190	62324190	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr20:62324190G>T	ENST00000318100.4	+	29	3512	c.2685G>T	c.(2683-2685)agG>agT	p.R895S	RTEL1_ENST00000370018.3_Missense_Mutation_p.R895S|RTEL1_ENST00000508582.2_Missense_Mutation_p.R919S|RTEL1_ENST00000370003.1_Missense_Mutation_p.R140S|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R895S|RTEL1_ENST00000360203.5_Missense_Mutation_p.R895S			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	895					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			AGACGGACAGGGCCAAGCTCT	0.632000													3	38					1	1	1	1	0
AFP	174	broad.mit.edu	37	4	74306366	74306366	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr4:74306366G>T	ENST00000395792.2	+	4	418	c.318G>T	c.(316-318)gaG>gaT	p.E106D	AFP_ENST00000226359.2_Missense_Mutation_p.E106D	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	106	Albumin 1.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAATTTTGGAGAAGTACGGAC	0.393000									Alpha-Fetoprotein, Hereditary Persistence of				47	47					7.92265e-33	1.10037e-32	1	1	0
ZFYVE1	53349	broad.mit.edu	37	14	73490979	73490979	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr14:73490979G>A	ENST00000556143.1	-	2	958	c.238C>T	c.(238-240)Cat>Tat	p.H80Y	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.H80Y|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.H80Y	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	80						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		CCTGGTAAATGCCCACTGAGA	0.537000													97	140					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124333279	124333279	+	Splice_Site	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr10:124333279G>A	ENST00000368909.3	+	6	389		c.e6+1		DMBT1_ENST00000344338.3_Splice_Site|DMBT1_ENST00000359586.6_Splice_Site|DMBT1_ENST00000368955.3_Splice_Site|DMBT1_ENST00000368956.2_Splice_Site|DMBT1_ENST00000338354.3_Splice_Site|DMBT1_ENST00000330163.4_Splice_Site	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1						epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTAGCAGAAGGTAACGTCTAC	0.527000													35	104					0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160268001	160268001	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr4:160268001G>T	ENST00000264431.4	+	19	3499	c.3080G>T	c.(3079-3081)aGg>aTg	p.R1027M		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1027					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GTAGCTCCAAGGGCAGGGTCA	0.498000													31	67					3.11337e-16	4.12368e-16	1	1	0
PAPSS2	9060	broad.mit.edu	37	10	89475540	89475540	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr10:89475540A>C	ENST00000361175.4	+	7	1174	c.805A>C	c.(805-807)Aaa>Caa	p.K269Q	PAPSS2_ENST00000456849.1_Missense_Mutation_p.K269Q|PAPSS2_ENST00000427144.2_Missense_Mutation_p.K273Q	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	269					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CACTCCCCTCAAAGGTTTCAT	0.433000													21	51					0	0	1	0	0
ZNF131	7690	broad.mit.edu	37	5	43175089	43175089	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:43175089G>T	ENST00000509634.1	+	7	2080	c.1624G>T	c.(1624-1626)Gag>Tag	p.E542*	ZNF131_ENST00000509156.1_Nonsense_Mutation_p.E576*|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000505606.2_Nonsense_Mutation_p.E542*|ZNF131_ENST00000399534.1_Nonsense_Mutation_p.E576*|ZNF131_ENST00000306938.4_Nonsense_Mutation_p.E542*			P52739	ZN131_HUMAN	zinc finger protein 131	576						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						GAACCAAGAGGAGAGAGAGTC	0.488000													18	44					6.94344e-10	8.16876e-10	1	1	0
ANAPC4	29945	broad.mit.edu	37	4	25417102	25417102	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr4:25417102G>T	ENST00000315368.3	+	26	1983	c.1841G>T	c.(1840-1842)gGa>gTa	p.G614V	ANAPC4_ENST00000510092.1_Missense_Mutation_p.G615V	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	614					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				GTGAGTAATGGACTAATTGCT	0.353000													10	8					3.07112e-06	3.50985e-06	1	1	0
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358000			Mis		"""CLL, MDS"""								7	24					0	0	1	0	0
RGAG4	340526	broad.mit.edu	37	X	71350580	71350580	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chrX:71350580G>A	ENST00000545866.1	-	1	1178	c.811C>T	c.(811-813)Cgc>Tgc	p.R271C	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.R271C			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	271										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					TTTTGGAGGCGGCAGTCATCC	0.507000													13	66					0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169535488	169535488	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:169535488G>T	ENST00000449804.2	+	2	770	c.725G>T	c.(724-726)tGg>tTg	p.W242L	FOXI1_ENST00000306268.6_Missense_Mutation_p.W337L	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	337					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGGGTGACTGGGCGAACCCC	0.582000									Pendred syndrome				34	80					2.19358e-23	2.98446e-23	1	1	0
RPGRIP1	57096	broad.mit.edu	37	14	21788336	21788336	+	Splice_Site	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr14:21788336G>A	ENST00000206660.6	+	11	1467	c.1467_splice	c.e11+1	p.E489_splice	RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000382933.4_Splice_Site_p.E131_splice|RPGRIP1_ENST00000557771.1_Splice_Site_p.E462_splice|RPGRIP1_ENST00000400017.2_Splice_Site_p.E489_splice|RPGRIP1_ENST00000556336.1_Splice_Site_p.E462_splice			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	489					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CTCAGATCGAGGTAAGAGCCT	0.428000													3	30					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48801713	48801713	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr8:48801713C>A	ENST00000314191.2	-	34	4195	c.4139G>T	c.(4138-4140)aGc>aTc	p.S1380I	PRKDC_ENST00000338368.3_Missense_Mutation_p.S1380I|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1381					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GAAACCTATGCTTGCGGGCTC	0.443000								Non-homologous end-joining					13	29					6.72482e-11	8.201e-11	1	1	0
EVA1C	59271	broad.mit.edu	37	21	33887132	33887132	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr21:33887132G>C	ENST00000300255.2	+	8	1431	c.958G>C	c.(958-960)Gag>Cag	p.E320Q	EVA1C_ENST00000485488.1_3'UTR|EVA1C_ENST00000382699.3_Missense_Mutation_p.E317Q|EVA1C_ENST00000401402.3_Missense_Mutation_p.E272Q	NM_058187.3	NP_478067.2			eva-1 homolog C (C. elegans)																		AGCCCACCCGGAGAGAGCTGC	0.612000													7	89					0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30345327	30345327	+	Silent	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr20:30345327C>T	ENST00000340513.4	+	3	576	c.48C>T	c.(46-48)ttC>ttT	p.F16F	TPX2_ENST00000300403.6_Silent_p.F16F			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	16					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CCTCGGATTTCATCAATTTTT	0.398000													17	57					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38431514	38431514	+	Silent	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr7:38431514G>A	ENST00000356264.2	-	19	1928	c.1713C>T	c.(1711-1713)gaC>gaT	p.D571D	AMPH_ENST00000428293.2_Silent_p.D529D|AMPH_ENST00000325590.5_Silent_p.D529D	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	571					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GAGGAGCCGCGTCCTCGGTGG	0.607000													14	29					0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6933408	6933408	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr12:6933408G>A	ENST00000311268.3	+	2	1131	c.344G>A	c.(343-345)cGc>cAc	p.R115H	GPR162_ENST00000382315.3_Intron|GPR162_ENST00000541431.1_3'UTR|GPR162_ENST00000428545.2_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	115						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						TCCTACCATCGCATGTGGATG	0.592000													7	75					0	0	1	0	0
HMBS	3145	broad.mit.edu	37	11	118960770	118960770	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr11:118960770G>C	ENST00000537841.1	+	7	655	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	HMBS_ENST00000278715.3_Missense_Mutation_p.E139Q|HMBS_ENST00000543090.1_Missense_Mutation_p.E121Q|HMBS_ENST00000534956.1_3'UTR|HMBS_ENST00000544387.1_Missense_Mutation_p.E139Q|HMBS_ENST00000542729.1_Missense_Mutation_p.E122Q|HMBS_ENST00000442944.2_Missense_Mutation_p.E122Q|HMBS_ENST00000392841.1_Missense_Mutation_p.E122Q			P08397	HEM3_HUMAN	hydroxymethylbilane synthase	139			A -> G (in AIP).		peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		AACCCTGCCAGAGAAGAGGTA	0.542000													12	50					0	0	1	0	0
HLA-G	3135	broad.mit.edu	37	6	29797446	29797446	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr6:29797446C>T	ENST00000428701.1	+	5	1049	c.871C>T	c.(871-873)Ccg>Tcg	p.P291S	HLA-G_ENST00000360323.6_Missense_Mutation_p.P291S|HLA-G_ENST00000376818.3_Missense_Mutation_p.P199S|HLA-G_ENST00000376828.2_Missense_Mutation_p.P296S|HLA-G_ENST00000376815.3_Intron	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	291	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TGAGGGGCTGCCGGAGCCCCT	0.582000													7	24					0	0	1	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159606673	159606673	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr3:159606673G>A	ENST00000337808.6	+	6	1836	c.1259G>A	c.(1258-1260)aGa>aAa	p.R420K	IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.R469K|SCHIP1_ENST00000482804.1_Missense_Mutation_p.R193K|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.R496K|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.R407K|IQCJ-SCHIP1_ENST00000460298.1_Missense_Mutation_p.R380K|IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.R188K|SCHIP1_ENST00000445224.2_Missense_Mutation_p.R177K	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN		420						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						ACCGACCTGAGAGACATGACT	0.388000													25	69					0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21216973	21216973	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr9:21216973T>C	ENST00000380216.1	-	1	337	c.332A>G	c.(331-333)gAa>gGa	p.E111G		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	111					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CTGGAAAAGTTCAATGTAGAA	0.488000													36	200					0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196799682	196799682	+	Silent	SNP	T	T	C			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:196799682T>C	ENST00000320493.5	+	5	748	c.660T>C	c.(658-660)acT>acC	p.T220T	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.3_Silent_p.T161T	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	220	Sushi 4.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GGGACATTACTTCATTCCCGT	0.398000													64	79					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108475942	108475942	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr2:108475942A>T	ENST00000408999.3	+	11	1643	c.1566A>T	c.(1564-1566)aaA>aaT	p.K522N	RGPD4_ENST00000354986.4_Missense_Mutation_p.K522N	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	522					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CTGTATGTAAACAGCTTTGTA	0.393000													88	221					0	0	1	0	0
LMO2	4005	broad.mit.edu	37	11	33886309	33886309	+	Silent	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr11:33886309G>A	ENST00000257818.2	-	5	1132	c.303C>T	c.(301-303)ggC>ggT	p.G101G	LMO2_ENST00000395833.3_Silent_p.G32G	NM_005574.3	NP_005565.2	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	32	LIM zinc-binding 2.				multicellular organismal development	nucleus	protein binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						TCTGCTGGCAGCCGCCGCATG	0.627000			T	TRD@	T-ALL								29	30					0	0	1	0	0
GPR12	2835	broad.mit.edu	37	13	27333689	27333689	+	Silent	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr13:27333689C>A	ENST00000405846.3	-	2	497	c.276G>T	c.(274-276)ctG>ctT	p.L92L	GPR12_ENST00000381436.2_Silent_p.L92L	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	92						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CAATGCCGGCCAGCAGGTCTG	0.532000													21	32					7.92952e-12	9.78953e-12	1	1	0
EIF5B	9669	broad.mit.edu	37	2	99978277	99978277	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr2:99978277G>A	ENST00000289371.5	+	4	1115	c.913G>A	c.(913-915)Gca>Aca	p.A305T		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	305					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCCCACAGCTGCAGAAGGTTG	0.388000													35	52					0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61460123	61460123	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr20:61460123C>A	ENST00000343916.3	+	18	911	c.908C>A	c.(907-909)cCg>cAg	p.P303Q		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	303	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CAGGGCATGCCGGGCAAGGAC	0.682000													9	28					2.17888e-05	2.42097e-05	1	1	0
TEX2	55852	broad.mit.edu	37	17	62226339	62226339	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr17:62226339T>A	ENST00000258991.3	-	12	3479	c.3395A>T	c.(3394-3396)gAt>gTt	p.D1132V	TEX2_ENST00000583097.1_Missense_Mutation_p.D1125V|TEX2_ENST00000584379.1_Missense_Mutation_p.D1125V			Q8IWB9	TEX2_HUMAN	testis expressed 2	1125					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TCATGGCTGATCAGCAGCCTC	0.512000													10	91					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145532169	145532169	+	Silent	SNP	G	G	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:145532169G>T	ENST00000369304.3	+	8	988	c.813G>T	c.(811-813)ctG>ctT	p.L271L	ITGA10_ENST00000539363.1_Silent_p.L128L|ITGA10_ENST00000538811.1_Silent_p.L140L|ITGA10_ENST00000481236.1_3'UTR	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	271	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCAGGCTACTGGTGGTTGTCA	0.552000													11	143					1.49906e-05	1.67493e-05	1	1	0
OR8J3	81168	broad.mit.edu	37	11	55904276	55904276	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr11:55904276T>A	ENST00000301529.1	-	1	918	c.919A>T	c.(919-921)Aat>Tat	p.N307Y		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TAACATGGATTTTCCATGAAT	0.323000													4	42					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626348	140626348	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr5:140626348A>G	ENST00000231173.3	+	1	1202	c.1202A>G	c.(1201-1203)tAc>tGc	p.Y401C		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		401	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAATTTCTACAGGCTGGTA	0.458000													15	27					0	0	1	0	0
JTB	10899	broad.mit.edu	37	1	153949696	153949711	+	Frame_Shift_Del	DEL	GGGGAGGCCAGGCCTC	GGGGAGGCCAGGCCTC	-			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:153949696_153949711delGGGGAGGCCAGGCCTC	ENST00000271843.4	-	1	453_468	c.18_33delGAGGCCTGGCCTCCCC	c.(16-33)ggfs	p.GRPGLP6fs	JTB_ENST00000368589.1_5'UTR|JTB_ENST00000356648.1_5'UTR|JTB_ENST00000471173.1_5'UTR	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	6					apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding	p.P8P(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCGGCCCTGGGGGAGGCCAGGCCTCCCGGCACCCG	0.639													8	92	---	---	---	---					
MARK1	4139	broad.mit.edu	37	1	220791735	220791736	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr1:220791735_220791736insT	ENST00000402574.1	+	8	1233_1234	c.231_232insT	c.(229-234)aatggafs	p.G78fs	MARK1_ENST00000366917.4_Frame_Shift_Ins_p.G213fs|MARK1_ENST00000366918.4_Frame_Shift_Ins_p.G191fs	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	213	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TTGGGAACAAATTGGACACATT	0.411													38	35	---	---	---	---					
SGOL2	151246	broad.mit.edu	37	2	201434609	201434609	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr2:201434609delC	ENST00000357799.4	+	6	795	c.697delC	c.(697-699)ccfs	p.P233fs	SGOL2_ENST00000409203.3_Frame_Shift_Del_p.P233fs	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	233					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TGATGTACCTCCCAGAGGTGA	0.289													19	59	---	---	---	---					
FAM175A	84142	broad.mit.edu	37	4	84393370	84393390	+	Splice_Site	DEL	AATACCTTTTTGACATTTGAT	AATACCTTTTTGACATTTGAT	-			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr4:84393370_84393390delAATACCTTTTTGACATTTGAT	ENST00000321945.7	-	4	375_391	c.282_splice	c.e4+1	p.F89_splice	FAM175A_ENST00000506553.1_Splice_Site_p.F40_splice|FAM175A_ENST00000505489.1_5'UTR	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	89	MPN-like.				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						TAAATTAGAGAATACCTTTTTGACATTTGATAATATTTTCT	0.281													3	6	---	---	---	---					
PRPF4B	8899	broad.mit.edu	37	6	4032674	4032674	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr6:4032674delG	ENST00000337659.6	+	2	1023	c.923delG	c.(922-924)cgfs	p.R308fs	PRPF4B_ENST00000538861.1_Frame_Shift_Del_p.R294fs	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	308	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	p.R308Q(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AGAAGGTCACGGTCCAAAGAG	0.368													17	52	---	---	---	---					
PRRC2B	84726	broad.mit.edu	37	9	134353948	134353948	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr9:134353948delC	ENST00000357304.4	+	17	4755	c.4700delC	c.(4699-4701)acfs	p.T1567fs	PRRC2B_ENST00000405995.1_Frame_Shift_Del_p.T873fs|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Frame_Shift_Del_p.T873fs	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1567							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GAAGTCCTGACCAAGAAGCAG	0.617											OREG0019562	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	89	---	---	---	---					
TMEM72-AS1	220980	broad.mit.edu	37	10	45405482	45405483	+	RNA	INS	-	-	G			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr10:45405482_45405483insG	ENST00000450287.2	-	0	244				RP11-285G1.2_ENST00000436877.2_RNA	NR_033842.1																						ggggaggggaagggaggggagg	0.455													2	4	---	---	---	---					
MALAT1	378938	broad.mit.edu	37	11	65273307	65273308	+	RNA	DEL	AG	AG	-			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr11:65273307_65273308delAG	ENST00000534336.1	+	0	8075_8076					NR_002819.2																						AACATGTTCAAGAACTGTAATG	0.396													7	107	---	---	---	---					
RP11-818F20.4	0	broad.mit.edu	37	12	104566043	104566043	+	RNA	DEL	G	G	-			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr12:104566043delG	ENST00000547554.1	+	0	285																											GGCGGAGCTAGGGGGGAAGGG	0.721													3	4	---	---	---	---					
IRF2BPL	64207	broad.mit.edu	37	14	77493792	77493794	+	In_Frame_Del	DEL	TGT	TGT	-	rs28718623		TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr14:77493792_77493794delTGT	ENST00000238647.3	-	1	1240_1242	c.342_344delACA	c.(340-345)cag>ca	p.QQ126del		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	126	Poly-Gln.					nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						ctgctgctgctgttgctgctgct	0.700													2	4	---	---	---	---					
RP11-519G16.3	0	broad.mit.edu	37	15	45755180	45755181	+	RNA	INS	-	-	T			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr15:45755180_45755181insT	ENST00000560077.1	+	0	41				RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA																							caccaccaccacaccaccacca	0.604													3	4	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922																											AGTTCATCTTCTCAGAGCTGCTG	0.581													2	4	---	---	---	---					
MGRN1	23295	broad.mit.edu	37	16	4727498	4727500	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr16:4727498_4727500delGAA	ENST00000399577.5	+	11	1083_1085	c.990_992delGAA	c.(988-993)cgg>cg	p.RK330del	MGRN1_ENST00000415496.1_In_Frame_Del_p.RK331del|MGRN1_ENST00000262370.7_In_Frame_Del_p.RK330del|MGRN1_ENST00000588994.1_In_Frame_Del_p.RK330del|MGRN1_ENST00000586183.1_In_Frame_Del_p.RK330del	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	330					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						GGGCGGTGCGGAAGAAGCCAGGA	0.685													14	38	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579583	7579583	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr17:7579583delA	ENST00000420246.2	-	4	236	c.104delT	c.(103-105)tgfs	p.L35fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.L35fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.L35fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.L35fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.L35fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.L35fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	35	Interaction with HRMT1L2.|Transcription activation (acidic).		L -> F (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.L35fs*8(4)|p.?(1)|p.S33fs*23(1)|p.P13fs*18(1)|p.S33fs*6(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTGGGACGGCAAGGGGGACTG	0.597		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			73	107	---	---	---	---					
SETBP1	26040	broad.mit.edu	37	18	42531549	42531549	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr18:42531549delC	ENST00000282030.5	+	4	2540	c.2244delC	c.(2242-2244)cafs	p.H748fs		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	748						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCATCAAGCACCCCAGGCCTG	0.562									Schinzel-Giedion syndrome				21	57	---	---	---	---					
DSEL	92126	broad.mit.edu	37	18	65180619	65180619	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-7903-01A-11D-2167-08	TCGA-55-7903-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1	b4cf6e53-f5cd-433e-9571-98dca4a35bf3	g.chr18:65180619delT	ENST00000310045.7	-	2	2730	c.1257delA	c.(1255-1257)atfs	p.I419fs	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	409						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GGAATGTGTGTATTTTTGCAG	0.488													23	36	---	---	---	---					
