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	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
JMJD1C	221037	broad.mit.edu	37	10	64967951	64967956	+	In_Frame_Del	DEL	CTAAAC	CTAAAC	-	rs76933962		TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	CTAAAC	CTAAAC	-	-	CTAAAC	CTAAAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr10:64967951_64967956delCTAAAC	ENST00000399262.2	-	10	3691_3696	c.3473_3478delGTTTAG	c.(3472-3480)ggtttagta>gta	p.GL1158del	JMJD1C_ENST00000399251.1_In_Frame_Del_p.GL939del|JMJD1C_ENST00000542921.1_In_Frame_Del_p.GL976del|JMJD1C_ENST00000402544.1_In_Frame_Del_p.GL939del	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1158					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	p.G939_L940delGL(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATCTTGCCTACTAAACCTTCACTTTC	0.422		NA											False	1	True	10:64967951	0
PHLDA1	22822	broad.mit.edu	37	12	76424934	76424934	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr12:76424934delC	ENST00000266671.5	-	1	2778	c.588delG	c.(586-588)cagfs	p.Q204fs	RP11-290L1.3_ENST00000552367.1_RNA|PHLDA1_ENST00000602540.1_Frame_Shift_Del_p.Q63fs			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	204	PH.|Poly-Gln.			Missing (in Ref. 1; AAF64165, 2; CAA90576 and 3).	apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				gctgctgctgctgttgctgct	0.647		NA											False	1	True	12:76424934	0
PHLDA1	22822	broad.mit.edu	37	12	76424936	76424940	+	Frame_Shift_Del	DEL	GTTGC	GTTGC	-	rs57875368	by1000genomes	TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	GTTGC	GTTGC	-	-	GTTGC	GTTGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr12:76424936_76424940delGTTGC	ENST00000266671.5	-	1	2772_2776	c.582_586delGCAAC	c.(580-588)cagcaacagfs	p.QQQ194fs	RP11-290L1.3_ENST00000552367.1_RNA|PHLDA1_ENST00000602540.1_Frame_Shift_Del_p.QQQ53fs			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	194	PH.|Poly-Gln.				apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				tgctgctgctgttgctgctgctgct	0.649		NA											False	1	True	12:76424936	0
TRPC4	7223	broad.mit.edu	37	13	38320594	38320594	+	Splice_Site	DEL	T	T	-	rs80164537		TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr13:38320594delT	ENST00000379705.3	-	3	1236		c.e3-2		TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000426868.2_Splice_Site|TRPC4_ENST00000358477.2_Splice_Site|TRPC4_ENST00000379673.2_Splice_Site|TRPC4_ENST00000447043.1_Splice_Site|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000355779.2_Splice_Site|TRPC4_ENST00000379681.3_Splice_Site			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	NA					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGGAGGCACCTAAAAAAAAAA	0.338		NA											False	1	True	13:38320594	0
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	by1000genomes	TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682).		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635		NA											False	1	False	16:72991713	0
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212	byFrequency	TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433		NA											False	1	False	6:7393450	0
AEBP1	165	broad.mit.edu	37	7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-	rs13928	byFrequency	TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552		NA											False	1	True	7:44153778	0
SEMA5A	9037	broad.mit.edu	37	5	9066644	9066644	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr5:9066644G>A	ENST00000382496.5	-	17	2853	c.2188C>T	c.(2188-2190)Cga>Tga	p.R730*		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	730	TSP type-1 4.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CATGTGTATCGGAATCGTTGC	0.557		NA											False	0	False	5:9066644	0
EPHA8	2046	broad.mit.edu	37	1	22923888	22923888	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr1:22923888G>A	ENST00000166244.3	+	10	1921	c.1849G>A	c.(1849-1851)Gag>Aag	p.E617K		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	617						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCACACCTACGAGGAGCCAGG	0.637		NA											False	0	False	1:22923888	0
GRM6	2916	broad.mit.edu	37	5	178410024	178410024	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr5:178410024C>T	ENST00000231188.5	-	9	2501	c.2323G>A	c.(2323-2325)Gtg>Atg	p.V775M	GRM6_ENST00000517717.1_Missense_Mutation_p.V775M|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	775					detection of visible light|visual perception	integral to plasma membrane		p.V775M(2)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GTCTCGGGCACGCCACGGGCC	0.597		NA											False	0	False	5:178410024	0
SP4	6671	broad.mit.edu	37	7	21516727	21516727	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr7:21516727T>C	ENST00000222584.3	+	4	1927	c.1709T>C	c.(1708-1710)gTc>gCc	p.V570A		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	570					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GGAGTAAAAGTCCAGCAAGCT	0.378		NA											False	0	False	7:21516727	0
TRAPPC9	83696	broad.mit.edu	37	8	141461429	141461429	+	Missense_Mutation	SNP	G	G	A	rs142839408		TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr8:141461429G>A	ENST00000389328.4	-	2	352	c.338C>T	c.(337-339)aCg>aTg	p.T113M	TRAPPC9_ENST00000438773.2_Missense_Mutation_p.T15M|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.T15M	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	15					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CACGAGCAGCGTCTGGTGGTC	0.537		NA											False	0	False	8:141461429	0
CTD-3074O7.11	0	broad.mit.edu	37	11	66283170	66283170	+	Silent	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr11:66283170G>A	ENST00000419755.3	+	6	675	c.597G>A	c.(595-597)acG>acA	p.T199T	BBS1_ENST00000393994.2_Silent_p.T162T|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000537537.1_Silent_p.T50T|BBS1_ENST00000318312.7_Silent_p.T162T|BBS1_ENST00000455748.2_Intron						NA											NA						GCAGGGAGACGGCAGAGGAGC	0.617		NA											False	0	False	11:66283170	0
FRMD7	90167	broad.mit.edu	37	X	131216469	131216469	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chrX:131216469G>A	ENST00000298542.4	-	9	1002	c.827C>T	c.(826-828)gCt>gTt	p.A276V	FRMD7_ENST00000370879.1_Missense_Mutation_p.A156V|FRMD7_ENST00000464296.1_Missense_Mutation_p.A261V	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	276	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CCTGAAGAAAGCATGGTATTC	0.468		NA											False	0	True	X:131216469	0
ZNF616	90317	broad.mit.edu	37	19	52619638	52619638	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr19:52619638T>C	ENST00000600228.1	-	4	1040	c.779A>G	c.(778-780)cAa>cGa	p.Q260R	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GTGACTCCTTTGGTGTCTTAC	0.383		NA											False	0	True	19:52619638	0
CCDC87	55231	broad.mit.edu	37	11	66360267	66360267	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr11:66360267C>T	ENST00000333861.3	-	1	287	c.220G>A	c.(220-222)Gga>Aga	p.G74R		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	74										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGAGGCACTCCCGCTGCTATC	0.657		NA									OREG0021111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	11:66360267	0
PCDHGB4	0	broad.mit.edu	37	5	140769030	140769030	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr5:140769030G>A	ENST00000519479.1	+	1	1579	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1				NA										endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCCTTCGAACTCACACT	0.677		NA											False	0	False	5:140769030	0
OR10AG1	282770	broad.mit.edu	37	11	55735162	55735162	+	Silent	SNP	T	T	G			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr11:55735162T>G	ENST00000312345.2	-	1	828	c.778A>C	c.(778-780)Agg>Cgg	p.R260R		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TTCCCCATCCTTTGAAACTGA	0.383		NA											False	0	True	11:55735162	0
MED14	9282	broad.mit.edu	37	X	40573077	40573077	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chrX:40573077C>T	ENST00000324817.1	-	5	723	c.605G>A	c.(604-606)cGg>cAg	p.R202Q		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	202	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTTACAAGCCGATGTCTAAG	0.383		NA											False	0	False	X:40573077	0
APOB	338	broad.mit.edu	37	2	21251239	21251239	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr2:21251239T>C	ENST00000233242.1	-	13	1916	c.1789A>G	c.(1789-1791)Att>Gtt	p.I597V	APOB_ENST00000399256.4_Missense_Mutation_p.I597V	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	597	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATATTGGCAATATGGGAAGCC	0.418		NA											False	0	False	2:21251239	0
FREM2	341640	broad.mit.edu	37	13	39357268	39357268	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr13:39357268C>A	ENST00000280481.7	+	5	5919	c.5703C>A	c.(5701-5703)ttC>ttA	p.F1901L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1901	Calx-beta 2.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTGAGCTGTTCATTCCCATCA	0.448		NA											False	0	False	13:39357268	0
CCDC60	160777	broad.mit.edu	37	12	119773039	119773039	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr12:119773039C>T	ENST00000327554.2	+	1	523	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	CCDC60_ENST00000536742.1_Missense_Mutation_p.R20W|CCDC60_ENST00000546345.1_3'UTR|CCDC60_ENST00000539847.1_Missense_Mutation_p.R20W	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	20										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GGGGGCTGTCCGGCCCTTTTA	0.502		NA											False	0	False	12:119773039	0
PASD1	139135	broad.mit.edu	37	X	150840063	150840063	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chrX:150840063C>T	ENST00000370357.4	+	13	1494	c.1249C>T	c.(1249-1251)Cgc>Tgc	p.R417C		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	417						nucleus	signal transducer activity	p.R417C(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AAACACATTACGCCACGTTGT	0.498		NA											False	0	False	X:150840063	0
DIP2C	22982	broad.mit.edu	37	10	395301	395301	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr10:395301C>T	ENST00000280886.6	-	25	3166	c.3079G>A	c.(3079-3081)Ggc>Agc	p.G1027S		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1027						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ACGTGGTCGCCGTCCTGAAGG	0.652		NA											False	0	False	10:395301	0
RCVRN	5957	broad.mit.edu	37	17	9808122	9808122	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr17:9808122C>T	ENST00000226193.5	-	1	816	c.376G>A	c.(376-378)Gtc>Atc	p.V126I		NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	126	EF-hand 3.				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						CTGACCATGACGATCTCCAGC	0.642		NA											False	0	False	17:9808122	0
TGIF2LX	90316	broad.mit.edu	37	X	89177404	89177404	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chrX:89177404G>A	ENST00000561129.2	+	1	450	c.320G>A	c.(319-321)cGc>cAc	p.R107H	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.R107H			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	107						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GCTCGCAGACGCATTCTCCCG	0.493		NA											False	0	False	X:89177404	0
ZNF430	80264	broad.mit.edu	37	19	21239860	21239860	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr19:21239860C>T	ENST00000261560.5	+	5	927	c.746C>T	c.(745-747)aCt>aTt	p.T249I		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TCAACCCTTACTAGACACAGA	0.348		NA											False	0	False	19:21239860	0
RP11-707M1.1	0	broad.mit.edu	37	11	49831678	49831678	+	RNA	SNP	G	G	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr11:49831678G>T	ENST00000527477.1	+	0	1903										NA											NA						TTCCTGGATTGTGAAGCTAGA	0.448		NA											False	0	False	11:49831678	0
SEPT9	10801	broad.mit.edu	37	17	75398245	75398245	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr17:75398245C>T	ENST00000329047.8	+	2	939	c.127C>T	c.(127-129)Cag>Tag	p.Q43*	SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000423034.2_Nonsense_Mutation_p.Q54*|SEPT9_ENST00000590294.1_Nonsense_Mutation_p.Q43*|SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000591198.1_Nonsense_Mutation_p.Q42*|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000427177.1_Nonsense_Mutation_p.Q61*	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	septin 9	61					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			CAGCTCCACCCAGAAATTCCA	0.627		NA											False	0	True	17:75398245	0
USP32	84669	broad.mit.edu	37	17	58292024	58292024	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr17:58292024C>T	ENST00000300896.4	-	17	2173	c.1979G>A	c.(1978-1980)cGc>cAc	p.R660H	USP32_ENST00000592339.1_Missense_Mutation_p.R330H	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	660					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTCTTTAATGCGCAGCCTTTG	0.408		NA											False	0	False	17:58292024	0
TGFBR1	7046	broad.mit.edu	37	9	101900288	101900288	+	Nonsense_Mutation	SNP	C	C	A	rs111854391		TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr9:101900288C>A	ENST00000374994.4	+	4	839	c.722C>A	c.(721-723)tCg>tAg	p.S241*	TGFBR1_ENST00000550253.1_Nonsense_Mutation_p.S172*|TGFBR1_ENST00000374990.2_Nonsense_Mutation_p.S164*|TGFBR1_ENST00000552516.1_Nonsense_Mutation_p.S245*	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	241	Protein kinase.		S -> L (in LDS1A).		activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	p.S241L(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GAAGAACGTTCGTGGTTCCGT	0.418		NA											False	0	False	9:101900288	0
RADIL	55698	broad.mit.edu	37	7	4917630	4917630	+	Silent	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr7:4917630G>A	ENST00000399583.3	-	2	328	c.141C>T	c.(139-141)ggC>ggT	p.G47G	RADIL_ENST00000536091.1_Silent_p.G47G	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	47					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CATCGCTGGCGCCCAGGCTGG	0.627		NA											False	0	True	7:4917630	0
SPSB3	90864	broad.mit.edu	37	16	1828584	1828584	+	Silent	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr16:1828584G>A	ENST00000566339.1	-	3	486	c.156C>T	c.(154-156)taC>taT	p.Y52Y	SPSB3_ENST00000301717.4_Silent_p.Y52Y	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	52					intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						GCAGCGTGGAGTACTCGGGGT	0.652		NA											False	0	False	16:1828584	0
HAS2	3037	broad.mit.edu	37	8	122641537	122641537	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr8:122641537G>T	ENST00000303924.4	-	2	581	c.44C>A	c.(43-45)aCc>aAc	p.T15N		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	15						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AAAGAGTGTGGTTCCAATTAT	0.378		NA											False	0	False	8:122641537	0
LRP5	4041	broad.mit.edu	37	11	68115353	68115353	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr11:68115353C>T	ENST00000294304.7	+	2	236	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	44	Beta-propeller 1.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCGGGACGTACGGCTGGTGGA	0.647		NA											False	0	False	11:68115353	0
PCDHGB3	0	broad.mit.edu	37	5	140751764	140751764	+	Silent	SNP	C	C	T	rs57763341		TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr5:140751764C>T	ENST00000576222.1	+	1	1934	c.1803C>T	c.(1801-1803)aaC>aaT	p.N601N	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1				NA										endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGATACAACGCCTGGCTGT	0.672		NA											False	0	False	5:140751764	0
EPHA8	2046	broad.mit.edu	37	1	22927844	22927844	+	Silent	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr1:22927844C>T	ENST00000166244.3	+	16	2853	c.2781C>T	c.(2779-2781)agC>agT	p.S927S		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	927						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAGGGGGCAGCGGTGGCGGTG	0.692		NA											False	0	True	1:22927844	0
KCTD11	147040	broad.mit.edu	37	17	7256580	7256580	+	Missense_Mutation	SNP	C	C	T	rs35280612		TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr17:7256580C>T	ENST00000333751.3	+	1	1373	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	107					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CTCTGCTCGCCGGGGACCCCA	0.642		NA											False	0	True	17:7256580	0
CA10	56934	broad.mit.edu	37	17	50008436	50008436	+	Translation_Start_Site	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr17:50008436G>A	ENST00000570565.1	-	0	210				CA10_ENST00000451037.2_Missense_Mutation_p.R65W|CA10_ENST00000340813.6_Missense_Mutation_p.R71W|CA10_ENST00000285273.4_Missense_Mutation_p.R65W|CA10_ENST00000442502.2_Missense_Mutation_p.R65W			Q9NS85	CAH10_HUMAN	carbonic anhydrase X	NA					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GGCGACTGCCGTTTCCCCACA	0.473		NA											False	0	True	17:50008436	0
ZNF561	93134	broad.mit.edu	37	19	9721440	9721440	+	Silent	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr19:9721440G>A	ENST00000302851.3	-	6	1260	c.897C>T	c.(895-897)caC>caT	p.H299H	ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000354661.4_Silent_p.H163H|ZNF561_ENST00000424629.1_Silent_p.H230H	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						GAATTTGAATGTGATCATTAA	0.373		NA											False	0	False	19:9721440	0
DCBLD2	131566	broad.mit.edu	37	3	98518461	98518461	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr3:98518461G>A	ENST00000326840.6	-	16	2445	c.2083C>T	c.(2083-2085)Cag>Tag	p.Q695*	DCBLD2_ENST00000326857.9_Nonsense_Mutation_p.Q709*	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	695					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GTGGAGGGCTGACCAACTGAA	0.527		NA											False	0	False	3:98518461	0
CNGA3	1261	broad.mit.edu	37	2	99013339	99013339	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr2:99013339G>A	ENST00000393504.1	+	8	2123	c.1706G>A	c.(1705-1707)cGc>cAc	p.R569H	CNGA3_ENST00000409937.1_Missense_Mutation_p.R573H|CNGA3_ENST00000436404.2_Missense_Mutation_p.R551H|CNGA3_ENST00000272602.2_Missense_Mutation_p.R569H	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	569			R -> H (in ACHM2).		signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCCAACATCCGCAGCATTGGC	0.582		NA											False	0	False	2:99013339	0
ITGB4	3691	broad.mit.edu	37	17	73748594	73748594	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr17:73748594G>A	ENST00000200181.3	+	32	4231	c.4044G>A	c.(4042-4044)atG>atA	p.M1348I	ITGB4_ENST00000579662.1_Missense_Mutation_p.M1348I|ITGB4_ENST00000450894.3_Missense_Mutation_p.M1348I|ITGB4_ENST00000449880.2_Missense_Mutation_p.M1348I|ITGB4_ENST00000339591.3_Missense_Mutation_p.M1348I|GALK1_ENST00000225614.2_Intron	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1348					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTTCCTTATGTACAGCGATG	0.627		NA											False	0	False	17:73748594	0
TFE3	7030	broad.mit.edu	37	X	48896768	48896768	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chrX:48896768C>T	ENST00000315869.7	-	3	657	c.398G>A	c.(397-399)cGt>cAt	p.R133H	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	133					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						CTGTTCCCGACGCTCACGCCT	0.662		NA	T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								False	0	False	X:48896768	0
COX6A1	1337	broad.mit.edu	37	12	120876314	120876314	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr12:120876314T>G	ENST00000229379.2	+	2	273	c.236T>G	c.(235-237)aTc>aGc	p.I79S	AL021546.6_ENST00000551806.1_Missense_Mutation_p.H55Q	NM_004373.3	NP_004364.2	P12074	CX6A1_HUMAN	cytochrome c oxidase subunit VIa polypeptide 1	79					respiratory electron transport chain	mitochondrial respiratory chain complex IV	cytochrome-c oxidase activity				NA	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CATCTCCGCATCAGGACCAAG	0.557		NA											False	0	False	12:120876314	0
TBC1D25	4943	broad.mit.edu	37	X	48418156	48418156	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chrX:48418156C>T	ENST00000376771.4	+	6	1201	c.860C>T	c.(859-861)aCg>aTg	p.T287M	TBC1D25_ENST00000537536.1_Missense_Mutation_p.T33M	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	287	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						ATCCGCAGCACGGTCCTCAAG	0.627		NA											False	0	False	X:48418156	0
TLR9	54106	broad.mit.edu	37	3	52255986	52255986	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr3:52255986G>A	ENST00000494383.1	-	5	2805	c.2806C>T	c.(2806-2808)Cgg>Tgg	p.R936W	TLR9_ENST00000360658.2_Silent_p.P782P|TLR9_ENST00000597542.1_Silent_p.P806P			Q9NR96	TLR9_HUMAN	toll-like receptor 9	0	TIR.				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TGGGCAGACCGGGCACGGCAG	0.647		NA											False	0	True	3:52255986	0
TCN1	6947	broad.mit.edu	37	11	59629067	59629067	+	Silent	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr11:59629067G>A	ENST00000257264.3	-	4	593	c.489C>T	c.(487-489)acC>acT	p.T163T	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	163					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAACTTCGGCGGTTGAGTAGT	0.448		NA											False	0	False	11:59629067	0
SLC6A7	6534	broad.mit.edu	37	5	149576606	149576606	+	Splice_Site	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr5:149576606C>T	ENST00000230671.2	+	4	722	c.351C>T	c.(349-351)ggC>ggT	p.G117G	SLC6A7_ENST00000524041.1_Splice_Site_p.G117G	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	117						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CCACACCAGGCGCCGGCGCAG	0.637		NA											False	0	False	5:149576606	0
DGKH	160851	broad.mit.edu	37	13	42774011	42774011	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr13:42774011C>T	ENST00000261491.5	+	20	2480	c.2459C>T	c.(2458-2460)tCg>tTg	p.S820L	DGKH_ENST00000538674.1_Missense_Mutation_p.S575L|DGKH_ENST00000536612.1_Missense_Mutation_p.S684L|DGKH_ENST00000379274.2_Missense_Mutation_p.S684L|DGKH_ENST00000540693.1_Missense_Mutation_p.S820L|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000337343.4_Missense_Mutation_p.S820L	NM_152910.4	NP_690874.2	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	NA					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TTACAGAGATCGTACAAGAAT	0.333		NA											False	0	False	13:42774011	0
SLC7A3	84889	broad.mit.edu	37	X	70146745	70146745	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chrX:70146745T>C	ENST00000374299.3	-	9	1577	c.1433A>G	c.(1432-1434)tAt>tGt	p.Y478C	SLC7A3_ENST00000298085.4_Missense_Mutation_p.Y478C			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	478					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGAACAAACATAGACAATTTG	0.488		NA											False	0	True	X:70146745	0
CACNB1	782	broad.mit.edu	37	17	37339981	37339981	+	Silent	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr17:37339981C>T	ENST00000394303.3	-	11	1242	c.1035G>A	c.(1033-1035)aaG>aaA	p.K345K	CACNB1_ENST00000394310.3_Silent_p.K345K|CACNB1_ENST00000344140.5_Silent_p.K390K	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	345					axon guidance	voltage-gated calcium channel complex		p.K390N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	GAGAGGTGATCTTGATGTAAA	0.567		NA											False	0	False	17:37339981	0
TRPM6	140803	broad.mit.edu	37	9	77386696	77386696	+	Silent	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr9:77386696G>A	ENST00000451710.3	-	25	3696	c.3459C>T	c.(3457-3459)tgC>tgT	p.C1153C	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Silent_p.C1153C|TRPM6_ENST00000360774.1_Silent_p.C1153C|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.C1148C|TRPM6_ENST00000449912.2_Silent_p.C1148C			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1153					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATTTTTCCACGCACTGCTCCT	0.358		NA											False	0	False	9:77386696	0
CHD5	26038	broad.mit.edu	37	1	6202252	6202252	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr1:6202252C>T	ENST00000262450.3	-	15	2471	c.2372G>A	c.(2371-2373)cGg>cAg	p.R791Q	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	791	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTCGTTCTCCCGAATCACCGA	0.557		NA											False	0	True	1:6202252	0
PPAPDC3	84814	broad.mit.edu	37	9	134165668	134165668	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr9:134165668G>A	ENST00000372264.3	+	1	588	c.284G>A	c.(283-285)cGg>cAg	p.R95Q	PPAPDC3_ENST00000372261.1_Missense_Mutation_p.R95Q	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	95						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		ATGTCCAAGCGGCTGGGGGTG	0.652		NA											False	0	False	9:134165668	0
DCAF12L2	340578	broad.mit.edu	37	X	125299285	125299285	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chrX:125299285G>C	ENST00000538699.1	-	2	703	c.623C>G	c.(622-624)gCt>gGt	p.A208G	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.A208G	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	208										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCCGCTCACAGCTACGGTGTC	0.647		NA											False	0	False	X:125299285	0
HMCN1	83872	broad.mit.edu	37	1	186057376	186057376	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr1:186057376C>T	ENST00000271588.4	+	62	9774	c.9545C>T	c.(9544-9546)aCg>aTg	p.T3182M	HMCN1_ENST00000367492.2_Missense_Mutation_p.T3182M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3182	Ig-like C2-type 30.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCACCTCCCACGATAGCATGG	0.443		NA											False	0	False	1:186057376	0
ZNF208	7757	broad.mit.edu	37	19	22171675	22171675	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr19:22171675A>T	ENST00000397126.4	-	2	188	c.40T>A	c.(40-42)Tct>Act	p.S14T	ZNF208_ENST00000601773.1_Missense_Mutation_p.S14T|ZNF208_ENST00000597040.1_5'UTR|ZNF208_ENST00000599916.1_Missense_Mutation_p.S14T	NM_007153.3	NP_009084.2			zinc finger protein 208	NA										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCCTCCAGAGAGAATTCTATG	0.403		NA											False	0	True	19:22171675	0
SERPINB11	89778	broad.mit.edu	37	18	61377522	61377522	+	RNA	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr18:61377522C>T	ENST00000544088.1	+	0	157				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000382749.5_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)	NA					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TTCTTTTCTTCGCTGAGTCTG	0.428		NA											False	0	False	18:61377522	0
PRG4	10216	broad.mit.edu	37	1	186281436	186281436	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr1:186281436T>A	ENST00000445192.2	+	11	3968	c.3923T>A	c.(3922-3924)aTa>aAa	p.I1308K	PRG4_ENST00000367484.3_Missense_Mutation_p.I837K|PRG4_ENST00000367485.4_Missense_Mutation_p.I1215K|TPR_ENST00000367478.4_3'UTR|PRG4_ENST00000367483.4_Missense_Mutation_p.I1267K|PRG4_ENST00000367486.3_Missense_Mutation_p.I1265K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1308					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GAACGTGCTATAGGACCTTCT	0.418		NA											False	0	False	1:186281436	0
