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
PIP4K2C	79837	broad.mit.edu	37	12	57995053	57995053	+	Silent	SNP	C	C	T			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr12:57995053C>T	ENST00000354947.5	+	9	1123	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	PIP4K2C_ENST00000422156.3_Silent_p.F321F|PIP4K2C_ENST00000550465.1_Silent_p.F351F|PIP4K2C_ENST00000540759.2_Silent_p.F369F			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	369	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					AGGTCTACTTCATGGGCCTCA	0.468000													13	188					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140236489	140236489	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr5:140236489C>G	ENST00000307360.5	+	1	856	c.856C>G	c.(856-858)Ccc>Gcc	p.P286A	PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.P286A|PCDHA1_ENST00000394633.3_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGGTCCCACCCACGATAAG	0.358000													18	144					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8169634	8169634	+	Silent	SNP	C	C	T			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr17:8169634C>T	ENST00000314666.6	+	22	2917	c.2784C>T	c.(2782-2784)tgC>tgT	p.C928C	PFAS_ENST00000545834.1_Silent_p.C504C	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	928					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTGGAAATTGCGGGCTACAGG	0.597000													3	57					0	0	1	0	0
SYT8	90019	broad.mit.edu	37	11	1858203	1858203	+	Silent	SNP	C	C	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr11:1858203C>A	ENST00000341958.3	+	7	1109	c.807C>A	c.(805-807)gtC>gtA	p.V269V	SYT8_ENST00000381968.3_Silent_p.V283V|SYT8_ENST00000535046.1_3'UTR			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	283	C2 2.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACGTGAAGGTCCAGCTCATGC	0.617000													16	83					1.45105e-14	2.06665e-14	1	1	0
ELMO1	9844	broad.mit.edu	37	7	37382282	37382282	+	Missense_Mutation	SNP	C	C	T	rs146510671		TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr7:37382282C>T	ENST00000310758.4	-	2	660	c.13G>A	c.(13-15)Gcg>Acg	p.A5T	ELMO1_ENST00000442504.1_Missense_Mutation_p.A5T|ELMO1_ENST00000448602.1_Missense_Mutation_p.A5T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	5					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.A5T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ACGATGTCCGCGGGTGGCGGC	0.502000													6	257					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25268247	25268247	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr16:25268247C>A	ENST00000328086.7	-	1	1005	c.202G>T	c.(202-204)Gaa>Taa	p.E68*		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	68	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CAGCAAAGTTCCCAGAGTTTA	0.483000											OREG0023690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	128					0.0381472	0.0426886	1	1	0
CDH8	1006	broad.mit.edu	37	16	61935267	61935267	+	Silent	SNP	T	T	G			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr16:61935267T>G	ENST00000577390.1	-	3	1317	c.363A>C	c.(361-363)atA>atC	p.I121I	CDH8_ENST00000299345.6_Silent_p.I121I|CDH8_ENST00000584337.1_Silent_p.I121I|CDH8_ENST00000577730.1_Silent_p.I121I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	121	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CAAGTCTTTTTATAGCATGGA	0.428000													5	190					0	0	1	0	0
SLK	9748	broad.mit.edu	37	10	105780244	105780244	+	Splice_Site	SNP	A	A	G			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr10:105780244A>G	ENST00000369755.3	+	17	3866		c.e17-1		SLK_ENST00000335753.4_Splice_Site	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase						apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TCTTATTTATAGTTTGCTGCA	0.333000													11	51					0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55816167	55816167	+	Silent	SNP	G	G	T			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr19:55816167G>T	ENST00000309383.1	+	14	1873	c.1596G>T	c.(1594-1596)ccG>ccT	p.P532P	BRSK1_ENST00000588584.1_3'UTR|BRSK1_ENST00000326848.7_Silent_p.P227P|BRSK1_ENST00000590333.1_Silent_p.P548P	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	532	Pro-rich.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CCGGGACCCCGGGGACAACAC	0.751000													2	7					1	1	1	1	0
FAM86EP	348926	broad.mit.edu	37	4	3949560	3949560	+	RNA	SNP	G	G	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr4:3949560G>A	ENST00000281228.8	-	0	649				FAM86EP_ENST00000313946.8_RNA																							CCCTGGGGCCGTCTAAGTTGG	0.592000													3	58					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2977611	2977611	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr7:2977611C>G	ENST00000396946.4	-	8	1476	c.1073G>C	c.(1072-1074)tGt>tCt	p.C358S		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	358					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GTACATTTCACAGTCCTTTCC	0.572000			Mis		DLBCL								7	174					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140362135	140362135	+	Silent	SNP	C	C	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr5:140362135C>A	ENST00000532602.1	+	3	3562	c.2529C>A	c.(2527-2529)tcC>tcA	p.S843S	PCDHA1_ENST00000394633.3_Silent_p.S579S|PCDHA8_ENST00000531613.1_Silent_p.S843S|PCDHA13_ENST00000409494.1_Silent_p.S843S|PCDHA4_ENST00000512229.2_Silent_p.S840S|PCDHA5_ENST00000529859.1_Silent_p.S829S|PCDHA6_ENST00000527624.1_Silent_p.S579S|PCDHA6_ENST00000529310.1_Silent_p.S843S|PCDHA2_ENST00000526136.1_Silent_p.S841S|PCDHA10_ENST00000307360.5_Silent_p.S841S|PCDHA7_ENST00000525929.1_Silent_p.S830S|PCDHAC2_ENST00000289269.5_Silent_p.S900S|PCDHAC1_ENST00000253807.2_Silent_p.S856S|PCDHA3_ENST00000522353.2_Silent_p.S843S|PCDHA4_ENST00000530339.1_Silent_p.S840S|PCDHA13_ENST00000289272.2_Silent_p.S843S|PCDHA5_ENST00000529619.1_Silent_p.S829S|PCDHA10_ENST00000506939.2_Silent_p.S578S|PCDHA11_ENST00000398640.2_Silent_p.S842S|PCDHA1_ENST00000504120.2_Silent_p.S843S|PCDHA12_ENST00000398631.2_Silent_p.S834S	NM_031857.1	NP_114063.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACAGTATCCAGTGCAACAC	0.498000													13	87					2.61681e-11	3.4164e-11	1	1	0
ATG7	10533	broad.mit.edu	37	3	11383734	11383734	+	Missense_Mutation	SNP	A	A	G	rs149127802		TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr3:11383734A>G	ENST00000354449.3	+	11	1131	c.1106A>G	c.(1105-1107)aAt>aGt	p.N369S	ATG7_ENST00000354956.5_Missense_Mutation_p.N369S|ATG7_ENST00000446450.2_Missense_Mutation_p.N330S	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	369					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TTGGGTTGCAATGTAGCTAGG	0.468000													5	267					0	0	1	0	0
MOB2	81532	broad.mit.edu	37	11	1491713	1491713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr11:1491713C>A	ENST00000329957.6	-	5	685	c.496G>T	c.(496-498)Gaa>Taa	p.E166*	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	135						nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|kidney(2)|lung(1)	4						CTGGGGAATTCTCTGCCTGGG	0.622000													3	44					0.00909568	0.0106874	1	1	0
GFM2	84340	broad.mit.edu	37	5	74021464	74021464	+	Splice_Site	SNP	C	C	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr5:74021464C>A	ENST00000296805.3	-	19	2486		c.e19+1		GFM2_ENST00000515125.1_Intron|GFM2_ENST00000345239.2_Splice_Site|GFM2_ENST00000509430.1_Splice_Site	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2						mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TAGTTCTATACCTTTTGCACG	0.423000													3	72					0.004672	0.00563036	1	1	0
ATP6V1G1	9550	broad.mit.edu	37	9	117354865	117354865	+	Missense_Mutation	SNP	A	A	C	rs72752535	byFrequency	TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr9:117354865A>C	ENST00000374050.3	+	2	209	c.116A>C	c.(115-117)gAa>gCa	p.E39A	ATP6V1G1_ENST00000473413.1_3'UTR	NM_004888.3	NP_004879.1	O75348	VATG1_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1	39					cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances			endometrium(1)|lung(2)|prostate(1)|skin(1)	5						GCCAAAGAAGAAGCTCAGGCT	0.463000													2	7					0	0	1	0	0
RUFY3	22902	broad.mit.edu	37	4	71634338	71634338	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr4:71634338A>T	ENST00000226328.4	+	5	1219	c.656A>T	c.(655-657)gAt>gTt	p.D219V	RUFY3_ENST00000536664.1_Missense_Mutation_p.D203V|RUFY3_ENST00000417478.2_Missense_Mutation_p.D279V|RUFY3_ENST00000502653.1_Missense_Mutation_p.D166V|RUFY3_ENST00000381006.3_Missense_Mutation_p.D219V	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	219	RUN.				negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AATGTCATTGATGCCAATTTC	0.453000													15	232					0	0	1	0	0
ZNF766	90321	broad.mit.edu	37	19	52786650	52786650	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr19:52786650C>G	ENST00000439461.1	+	3	301	c.258C>G	c.(256-258)atC>atG	p.I86M	ZNF766_ENST00000593612.1_Missense_Mutation_p.I101M|ZNF766_ENST00000600821.1_Missense_Mutation_p.I81M|ZNF766_ENST00000599581.1_Missense_Mutation_p.I86M|ZNF766_ENST00000359102.4_Missense_Mutation_p.I101M	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		GGGAAGGTATCAAAGATATCA	0.418000													7	14					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77244942	77244942	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chrX:77244942A>G	ENST00000341514.6	+	4	979	c.824A>G	c.(823-825)aAt>aGt	p.N275S	ATP7A_ENST00000343533.5_Missense_Mutation_p.N275S|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	275					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TCATATACCAATGATTCAACA	0.388000													4	169					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43771210	43771210	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr12:43771210G>T	ENST00000389420.3	-	32	4952	c.4953C>A	c.(4951-4953)agC>agA	p.S1651R		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1651	TSP type-1 14.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AATGCAAACAGCTGTTAATGC	0.408000													3	43					1	1	1	1	0
MRPL9	65005	broad.mit.edu	37	1	151735551	151735551	+	Silent	SNP	C	C	T			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr1:151735551C>T	ENST00000368830.3	-	2	309	c.225G>A	c.(223-225)cgG>cgA	p.R75R	MRPL9_ENST00000368829.3_Silent_p.R75R|OAZ3_ENST00000321531.5_5'UTR|OAZ3_ENST00000315067.8_5'UTR|MRPL9_ENST00000467306.1_5'UTR	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	75					translation	mitochondrial ribosome	structural constituent of ribosome			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CGCGATGTCGCCGGTGCAGGC	0.657000													14	33					0	0	1	0	0
ZNF45	7596	broad.mit.edu	37	19	44417765	44417765	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr19:44417765C>A	ENST00000269973.5	-	10	2913	c.1823G>T	c.(1822-1824)gGa>gTa	p.G608V	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.G608V	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	608					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TGGTCTCTCTCCTGTGTGGAC	0.488000													8	419					2.62144e-13	3.62376e-13	1	1	0
POLI	11201	broad.mit.edu	37	18	51820612	51820612	+	Silent	SNP	A	A	G			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr18:51820612A>G	ENST00000579534.1	+	10	2141	c.1998A>G	c.(1996-1998)caA>caG	p.Q666Q	POLI_ENST00000217800.5_Silent_p.Q540Q|POLI_ENST00000579434.1_Silent_p.Q563Q|POLI_ENST00000406285.3_Silent_p.Q587Q	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	666					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AGAGTGAGCAACTTTTCTCCA	0.403000								DNA polymerases (catalytic subunits)					23	40					0	0	1	0	0
BTG3	10950	broad.mit.edu	37	21	18977201	18977201	+	Silent	SNP	C	C	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr21:18977201C>A	ENST00000339775.6	-	3	441	c.288G>T	c.(286-288)gtG>gtT	p.V96V	BTG3_ENST00000348354.6_Silent_p.V96V	NM_001130914.1	NP_001124386.1	Q14201	BTG3_HUMAN	BTG family, member 3	96					negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		CACATGGGTCCACCCAGAGAG	0.468000													3	55					1	1	1	1	0
LILRB2	10288	broad.mit.edu	37	19	54783387	54783387	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr19:54783387C>A	ENST00000391748.1	-	5	598	c.471G>T	c.(469-471)aaG>aaT	p.K157N	LILRB2_ENST00000391746.1_Missense_Mutation_p.K157N|LILRB2_ENST00000434421.1_Missense_Mutation_p.K41N|LILRB2_ENST00000391749.4_Missense_Mutation_p.K157N|LILRB2_ENST00000314446.5_Missense_Mutation_p.K157N	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	157	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTTCTCCTTCCTTACACAGAA	0.622000													21	124					1.50039e-11	2.01481e-11	1	1	0
CACNA1B	774	broad.mit.edu	37	9	140809200	140809200	+	Silent	SNP	C	C	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr9:140809200C>A	ENST00000371372.1	+	5	862	c.717C>A	c.(715-717)atC>atA	p.I239I	CACNA1B_ENST00000371355.4_Silent_p.I239I|CACNA1B_ENST00000371363.1_Silent_p.I239I|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Silent_p.I239I|CACNA1B_ENST00000371357.1_Silent_p.I239I	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	239					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.I239I(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGTTTGCCATCATTGGCCTGG	0.567000													6	23					0.0215528	0.0247068	1	1	0
FBN3	84467	broad.mit.edu	37	19	8188389	8188389	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr19:8188389G>T	ENST00000600128.1	-	24	3455	c.3041C>A	c.(3040-3042)gCg>gAg	p.A1014E	FBN3_ENST00000601739.1_Missense_Mutation_p.A1014E|FBN3_ENST00000270509.2_Missense_Mutation_p.A1014E			Q75N90	FBN3_HUMAN	fibrillin 3	1014	EGF-like 12; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GAAGCCCCCCGCACAGGCGCA	0.612000													3	42					0.115264	0.123123	1	1	0
TBCD	6904	broad.mit.edu	37	17	80772758	80772758	+	Silent	SNP	G	G	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr17:80772758G>A	ENST00000355528.4	+	13	1396	c.1266G>A	c.(1264-1266)gcG>gcA	p.A422A	TBCD_ENST00000539345.2_Silent_p.A422A|TBCD_ENST00000397466.2_Silent_p.A36A	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	422					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GATGTCTGGCGCTGGCAGAGC	0.612000													10	23					0	0	1	0	0
FCRLB	127943	broad.mit.edu	37	1	161695855	161695855	+	Silent	SNP	T	T	C			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr1:161695855T>C	ENST00000367948.2	+	6	767	c.552T>C	c.(550-552)gcT>gcC	p.A184A	FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000392158.1_Silent_p.A184A|FCRLB_ENST00000336830.5_Silent_p.A184A|FCRLB_ENST00000367944.3_Silent_p.A177A|FCRLB_ENST00000367945.1_Silent_p.A177A|FCRLB_ENST00000367946.3_Silent_p.A184A			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	184	Ig-like C2-type 2.					endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TGTTCTCCGCTAAGGTGGCTG	0.622000											OREG0013944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	47					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49924839	49924839	+	Silent	SNP	C	C	G			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr3:49924839C>G	ENST00000296474.3	-	20	4131	c.4104G>C	c.(4102-4104)tcG>tcC	p.S1368S	MST1R_ENST00000344206.4_Silent_p.S1319S	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1368					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TCATCTCATGCGAGGTGCTGG	0.597000													10	181					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18858244	18858244	+	Silent	SNP	A	A	T			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr12:18858244A>T	ENST00000266505.7	-	7	983	c.720T>A	c.(718-720)tcT>tcA	p.S240S	PLCZ1_ENST00000538330.1_Intron|PLCZ1_ENST00000435379.1_Silent_p.S45S|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000447925.2_Silent_p.S238S|PLCZ1_ENST00000541695.1_Silent_p.S103S|PLCZ1_ENST00000539875.1_Silent_p.S47S			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	240	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CTGGGTAGTCAGATGTCTAAA	0.343000													18	245					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51237587	51237587	+	Silent	SNP	C	C	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr14:51237587C>A	ENST00000245441.5	-	11	1432	c.1242G>T	c.(1240-1242)cgG>cgT	p.R414R	NIN_ENST00000324330.9_Silent_p.R414R|NIN_ENST00000382043.4_Silent_p.R414R|NIN_ENST00000389868.3_Silent_p.R414R|NIN_ENST00000382041.3_Silent_p.R414R|NIN_ENST00000453196.1_Silent_p.R414R|NIN_ENST00000530997.2_Silent_p.R414R	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	414					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGTACTCATTCCGCCGCTCTA	0.592000			T	PDGFRB	MPD								8	39					1.06961e-07	1.34334e-07	1	1	0
ABCA1	19	broad.mit.edu	37	9	107581907	107581907	+	Silent	SNP	G	G	A			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr9:107581907G>A	ENST00000374736.3	-	22	3595	c.3201C>T	c.(3199-3201)tcC>tcT	p.S1067S		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1067	ABC transporter 1.				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)	TTCCCCTGCGGGAGTAAGGGT	0.512000													5	124					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999255	72999255	+	Silent	SNP	G	G	A	rs145239521		TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr18:72999255G>A	ENST00000322038.5	+	2	2342	c.1758G>A	c.(1756-1758)ccG>ccA	p.P586P	TSHZ1_ENST00000580243.1_Silent_p.P631P	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	631						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CGCCCCCACCGCACAAGAGCA	0.632000													3	49					0	0	1	0	0
CYP1B1	1545	broad.mit.edu	37	2	38297920	38297920	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr2:38297920A>G	ENST00000260630.3	-	3	1978	c.1577T>C	c.(1576-1578)aTg>aCg	p.M526T	CYP1B1_ENST00000407341.1_Missense_Mutation_p.M526T|CYP1B1_ENST00000494864.1_5'UTR	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	526					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	AAGGAGCTCCATGGACTCTCT	0.403000													7	119					0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116939279	116939281	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr1:116939279_116939281delCAT	ENST00000537345.1	+	14	2259_2261	c.1896_1898delCAT	c.(1894-1899)ggc>gg	p.GI632del	ATP1A1_ENST00000295598.5_In_Frame_Del_p.GI632del|ATP1A1_ENST00000369496.4_In_Frame_Del_p.GI601del	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	632					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	AAGGTGTGGGCATCATCTCAGAA	0.493													15	81	---	---	---	---					
DTX3L	151636	broad.mit.edu	37	3	122289368	122289371	+	Frame_Shift_Del	DEL	AAGG	AAGG	-	rs9868175	byFrequency	TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr3:122289368_122289371delAAGG	ENST00000296161.4	+	4	2191_2194	c.2002_2005delAAGG	c.(2002-2007)aafs	p.KE668fs	DTX3L_ENST00000383661.3_Frame_Shift_Del_p.KE156fs	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	668			K -> M (in dbSNP:rs9868175).		histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GCCTGATAATAAGGAAGGAAGGAA	0.426													10	148	---	---	---	---					
RP11-703G6.1	0	broad.mit.edu	37	4	104890339	104890340	+	RNA	INS	-	-	TC	rs11352847		TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr4:104890339_104890340insTC	ENST00000510505.1	+	0	63																											ccttcctttcttttctttcttt	0.356													4	2	---	---	---	---					
DOPEY1	23033	broad.mit.edu	37	6	83845475	83845475	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr6:83845475delA	ENST00000349129.2	+	20	3268	c.3008delA	c.(3007-3009)ctfs	p.H1003fs	DOPEY1_ENST00000369739.3_Frame_Shift_Del_p.H994fs|DOPEY1_ENST00000237163.5_Frame_Shift_Del_p.H984fs	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1003					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CTCCTGCTTCATCCAAAAACT	0.453													47	142	---	---	---	---					
RP11-420N3.2	0	broad.mit.edu	37	16	5792292	5792299	+	RNA	DEL	CCTGCCTC	CCTGCCTC	-			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr16:5792292_5792299delCCTGCCTC	ENST00000569895.1	+	0	403																											tccctcccttcctgcctccctcccttcc	0.558													2	4	---	---	---	---					
PLCG2	5336	broad.mit.edu	37	16	81944242	81944242	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr16:81944242delC	ENST00000359376.3	+	18	2065	c.1851delC	c.(1849-1851)tafs	p.Y617fs		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	617	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TCCAGCACTACCGCGAGACGC	0.627													21	397	---	---	---	---					
CHD6	84181	broad.mit.edu	37	20	40080534	40080535	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BP-4994-01A-01D-1462-08	TCGA-BP-4994-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba489617-cdc3-4e57-9400-1b3ef1d31b31	52c6f47a-69a1-4f55-9cda-c77e7c6e50c7	g.chr20:40080534_40080535delTT	ENST00000373233.3	-	22	3631_3632	c.3454_3455delAA	c.(3454-3456)gfs	p.K1152fs	CHD6_ENST00000309279.7_Frame_Shift_Del_p.K635fs	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1152					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AATGAAACTCTTGATCTTCTCG	0.520													53	247	---	---	---	---					
