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
VWA7	80737	broad.mit.edu	37	6	31734251	31734251	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr6:31734251C>T	ENST00000375686.3	-	14	2410	c.2173G>A	c.(2173-2175)Gtc>Atc	p.V725I	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Missense_Mutation_p.V725I	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	725						extracellular region											TCCAGAAGGACAGGGACTACA	0.652000													10	4					0	0	0.387290	0	0
KIAA1407	57577	broad.mit.edu	37	3	113723577	113723577	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:113723577G>C	ENST00000295878.3	-	11	2031	c.1885C>G	c.(1885-1887)Cct>Gct	p.P629A	KIAA1407_ENST00000545063.1_Missense_Mutation_p.P460A	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	629										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TCAGTCCCAGGGGAAGCAACA	0.443000													27	188					0	0	0.681144	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr1:145302714A>G	ENST00000342960.5	+	8	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	384								p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000													4	64					0	0	0.184627	0	0
KDM5C	8242	broad.mit.edu	37	X	53239931	53239931	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chrX:53239931C>A	ENST00000452825.3	-	9	1841	c.1309G>T	c.(1309-1311)Gtg>Ttg	p.V437L	KDM5C_ENST00000375383.3_Missense_Mutation_p.V463L|KDM5C_ENST00000375401.3_Missense_Mutation_p.V504L|KDM5C_ENST00000375379.3_Missense_Mutation_p.V504L|KDM5C_ENST00000404049.3_Missense_Mutation_p.V503L	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	504					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						ACCATGCCCACGTAGAGCCAG	0.522000			"""N, F, S"""		clear cell renal carcinoma								3	31					0.115264	0.120017	0.115264	1	0
NELL1	4745	broad.mit.edu	37	11	21594899	21594899	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr11:21594899C>G	ENST00000298925.5	+	20	2563	c.2410C>G	c.(2410-2412)Ctt>Gtt	p.L804V	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_Missense_Mutation_p.L719V|NELL1_ENST00000532434.1_Missense_Mutation_p.L729V|NELL1_ENST00000357134.5_Missense_Mutation_p.L776V			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	776	VWFC 5.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TGTTTCACGGCTTAGTGGCTC	0.493000													10	107					0	0	0.387290	0	0
ABCC11	85320	broad.mit.edu	37	16	48250156	48250156	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr16:48250156C>A	ENST00000394747.1	-	6	1169	c.820G>T	c.(820-822)Ggg>Tgg	p.G274W	ABCC11_ENST00000394748.1_Missense_Mutation_p.G274W|ABCC11_ENST00000537808.1_Missense_Mutation_p.G274W|ABCC11_ENST00000356608.2_Missense_Mutation_p.G274W|ABCC11_ENST00000353782.5_Missense_Mutation_p.G274W	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	274	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TAGCACACCCCTTCAAACAGG	0.493000													4	165					0.150653	0.155265	0.150653	1	0
ZNF700	90592	broad.mit.edu	37	19	12058339	12058339	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr19:12058339G>C	ENST00000482090.1	+	2	565	c.147G>C	c.(145-147)tgG>tgC	p.W49C	CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.W67C			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GAAAAAAATGGAGTGACCAGA	0.358000													3	89					0	0	0.115264	0	0
FNBP1	23048	broad.mit.edu	37	9	132740855	132740855	+	Silent	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr9:132740855G>A	ENST00000420781.1	-	4	452	c.234C>T	c.(232-234)aaC>aaT	p.N78N	FNBP1_ENST00000355681.3_Silent_p.N78N|FNBP1_ENST00000446176.2_Silent_p.N78N			Q96RU3	FNBP1_HUMAN	formin binding protein 1	78	Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.|Self-association, lipid-binding and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		CATTCATTTCGTTCAGGTTGG	0.433000			T	MLL	AML								8	49					0	0	0.278610	0	0
ZNF761	388561	broad.mit.edu	37	19	53959551	53959551	+	RNA	SNP	A	A	G			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr19:53959551A>G	ENST00000454407.1	+	0	2243							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GAAATACATCAGAAAATTCAT	0.408000													24	60					0	0	0.654019	0	0
TMEM39B	55116	broad.mit.edu	37	1	32542834	32542834	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr1:32542834A>G	ENST00000427288.1	+	6	640	c.160A>G	c.(160-162)Acg>Gcg	p.T54A	TMEM39B_ENST00000336294.5_Missense_Mutation_p.T169A|TMEM39B_ENST00000456834.2_Intron|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000373634.4_Intron			Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	169						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CACCGTTCTCACGGCAACAGG	0.597000													4	99					0	0	0.150653	0	0
BAHD1	22893	broad.mit.edu	37	15	40758306	40758306	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr15:40758306C>T	ENST00000561234.1	+	7	2576	c.2317C>T	c.(2317-2319)Cgc>Tgc	p.R773C	BAHD1_ENST00000416165.1_Missense_Mutation_p.R774C|BAHD1_ENST00000560846.1_Missense_Mutation_p.R771C|RP11-64K12.8_ENST00000559730.1_RNA			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	774	BAH.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCGCCACGGGCGCATCCTTAA	0.622000													20	64					0	0	0.693898	0	0
ZNF484	83744	broad.mit.edu	37	9	95609543	95609543	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr9:95609543G>T	ENST00000395505.2	-	3	1510	c.1418C>A	c.(1417-1419)tCa>tAa	p.S473*	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Nonsense_Mutation_p.S473*|ZNF484_ENST00000375495.3_Nonsense_Mutation_p.S509*|ZNF484_ENST00000395506.3_Nonsense_Mutation_p.S511*	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						AATGAGATTTGACCTGTCAGT	0.393000													42	131					2.19962e-31	2.58328e-31	0.840704	1	0
PAX5	5079	broad.mit.edu	37	9	37015016	37015016	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr9:37015016G>A	ENST00000358127.4	-	3	462	c.388C>T	c.(388-390)Cct>Tct	p.P130S	PAX5_ENST00000377852.2_Missense_Mutation_p.P130S|PAX5_ENST00000523145.1_Missense_Mutation_p.P22S|PAX5_ENST00000520154.1_Missense_Mutation_p.P130S|PAX5_ENST00000414447.1_Missense_Mutation_p.P130S|PAX5_ENST00000377853.2_Missense_Mutation_p.P130S|PAX5_ENST00000522003.1_Missense_Mutation_p.P22S|PAX5_ENST00000520281.1_Missense_Mutation_p.P130S|PAX5_ENST00000377847.2_Missense_Mutation_p.P130S|PAX5_ENST00000523241.1_Missense_Mutation_p.P130S|PAX5_ENST00000446742.1_Intron	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	130	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(42)|p.N126_P130>RA(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CTGACGCTAGGCACGGTGTCA	0.572000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								10	161					0	0	0.387290	0	0
LINGO2	158038	broad.mit.edu	37	9	27949442	27949442	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr9:27949442G>T	ENST00000379992.2	-	6	1677	c.1228C>A	c.(1228-1230)Ccc>Acc	p.P410T	LINGO2_ENST00000308675.3_Missense_Mutation_p.P410T	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	410	Ig-like C2-type.					integral to membrane		p.P410T(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CGGATTTTGGGTTTTTTGCAG	0.488000													12	73					4.36969e-10	4.90376e-10	0.435327	1	0
UNC5A	90249	broad.mit.edu	37	5	176295646	176295646	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr5:176295646A>G	ENST00000329542.4	+	4	795	c.521A>G	c.(520-522)gAg>gGg	p.E174G	UNC5A_ENST00000261961.3_Missense_Mutation_p.E134G	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	174	Ig-like C2-type.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGTCCACCGGAGGGCATCCCT	0.662000													3	11					0	0	0.115264	0	0
EGFLAM	133584	broad.mit.edu	37	5	38370498	38370498	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr5:38370498G>A	ENST00000322350.5	+	6	992	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	EGFLAM_ENST00000354891.3_Missense_Mutation_p.V216M	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	216	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCAGTTTGCCGTGAGGGCAAT	0.567000													6	31					0	0	0.217242	0	0
SBF1	6305	broad.mit.edu	37	22	50903692	50903692	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr22:50903692G>T	ENST00000380817.2	-	11	1338	c.1155C>A	c.(1153-1155)tgC>tgA	p.C385*	SBF1_ENST00000348911.6_Nonsense_Mutation_p.C386*|SBF1_ENST00000390679.3_Nonsense_Mutation_p.C385*	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	385	dDENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CGACGTGCAGGCACCAGCGAT	0.642000													4	7					2.56e-06	2.81043e-06	0.150653	1	0
DNAH9	1770	broad.mit.edu	37	17	11725866	11725866	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr17:11725866G>C	ENST00000262442.3	+	47	9030	c.8962G>C	c.(8962-8964)Gca>Cca	p.A2988P	DNAH9_ENST00000454412.2_Missense_Mutation_p.A2988P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2988	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCCTCAGCAAGCATTGGAGTC	0.532000													7	175					0	0	0.361761	0	0
KRT39	390792	broad.mit.edu	37	17	39118800	39118800	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr17:39118800G>A	ENST00000355612.2	-	4	759	c.724C>T	c.(724-726)Cag>Tag	p.Q242*	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	242	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				AGCTGACACTGTAAAGAATTG	0.418000													4	133					0	0	0.150653	0	0
GPR110	266977	broad.mit.edu	37	6	46977694	46977694	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr6:46977694C>T	ENST00000371253.2	-	11	1692	c.1477G>A	c.(1477-1479)Gtt>Att	p.V493I	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.V296I	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	493					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TTTTTGGAAACGGGTAGAATG	0.413000													7	67					0	0	0.248553	0	0
ZNF236	7776	broad.mit.edu	37	18	74611013	74611013	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr18:74611013T>A	ENST00000253159.8	+	11	1921	c.1723T>A	c.(1723-1725)Ttt>Att	p.F575I	ZNF236_ENST00000320610.9_Missense_Mutation_p.F577I	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	575					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TGACAAAAAATTTCGAACCTC	0.383000													5	63					0	0	0.184627	0	0
KCNMB2	10242	broad.mit.edu	37	3	178543544	178543544	+	Silent	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:178543544G>A	ENST00000432997.1	+	3	577	c.225G>A	c.(223-225)caG>caA	p.Q75Q	RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000452583.1_Silent_p.Q75Q|KCNMB2_ENST00000420517.2_Silent_p.Q75Q|KCNMB2_ENST00000358316.3_Silent_p.Q75Q|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	75					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			CATACATGCAGAGGTAATACC	0.527000													47	255					0	0	0.870114	0	0
GCKR	2646	broad.mit.edu	37	2	27728586	27728586	+	Splice_Site	SNP	C	C	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr2:27728586C>T	ENST00000264717.2	+	10	815	c.750_splice	c.e10-1	p.P251_splice	GCKR_ENST00000424318.2_Splice_Site_p.P61_splice	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	251	SIS 1.			P -> V (in Ref. 2; CAB61828).	carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CCTCTTCAGCCCGAGGGTCTC	0.552000													8	54					0	0	0.335167	0	0
TET1	80312	broad.mit.edu	37	10	70405630	70405630	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr10:70405630C>A	ENST00000373644.4	+	4	3353	c.3144C>A	c.(3142-3144)tgC>tgA	p.C1048*		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1048					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TGGAGTATTGCAACCAGTTAC	0.388000													18	80					2.94398e-08	3.2675e-08	0.557998	1	0
PDZRN3	23024	broad.mit.edu	37	3	73432746	73432746	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:73432746G>A	ENST00000263666.4	-	10	3085	c.2971C>T	c.(2971-2973)Cgg>Tgg	p.R991W	PDZRN3_ENST00000479530.1_Missense_Mutation_p.R708W|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R648W|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R713W|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R648W	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	991							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AACTCGCGCCGCCGCCGCTGC	0.582000													14	72					0	0	0.435327	0	0
LYZL1	84569	broad.mit.edu	37	10	29581596	29581596	+	Silent	SNP	C	C	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr10:29581596C>T	ENST00000375500.3	+	3	483	c.426C>T	c.(424-426)gtC>gtT	p.V142V		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	96					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.V142V(1)		central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				ACTGCCATGTCGCCTGCTCAG	0.537000													15	54					0	0	0.500413	0	0
SLC25A17	10478	broad.mit.edu	37	22	41173340	41173340	+	Silent	SNP	C	C	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr22:41173340C>T	ENST00000402844.3	-	2	1223	c.243G>A	c.(241-243)tcG>tcA	p.S81S	SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000435456.2_Silent_p.S163S|SLC25A17_ENST00000544408.1_Silent_p.S126S|SLC25A17_ENST00000542412.1_Silent_p.S90S			O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	163					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						TCCATAAAGCCGAGATTCCTT	0.408000													13	26					0	0	0.411799	0	0
EMC2	9694	broad.mit.edu	37	8	109462084	109462084	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr8:109462084G>T	ENST00000220853.3	+	2	108	c.73G>T	c.(73-75)Gaa>Taa	p.E25*		NM_014673.3	NP_055488.1			ER membrane protein complex subunit 2																		ATGGAGAGAAGAAAACTCAAG	0.313000													4	63					0.014758	0.0156901	0.184627	1	0
BRINP1	1620	broad.mit.edu	37	9	121930087	121930087	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr9:121930087G>A	ENST00000265922.3	-	8	2022	c.1561C>T	c.(1561-1563)Cgc>Tgc	p.R521C	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		521					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						ATGCGCTTGCGCCACCGAGGG	0.562000													20	28					0	0	0.654019	0	0
TAS2R16	50833	broad.mit.edu	37	7	122634844	122634844	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr7:122634844G>A	ENST00000249284.2	-	1	910	c.845C>T	c.(844-846)aCg>aTg	p.T282M		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	282					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTTTTCAACGTAGGGCTGCT	0.423000													27	109					0	0	0.706142	0	0
STRN3	29966	broad.mit.edu	37	14	31380280	31380280	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr14:31380280G>A	ENST00000355683.5	-	11	1650	c.1435C>T	c.(1435-1437)Ccg>Tcg	p.P479S	STRN3_ENST00000357479.5_Missense_Mutation_p.P563S	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	563					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	p.P479T(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		CTGGGACTCGGCATATTCCAC	0.368000													3	70					0	0	0.115264	0	0
KRT36	8689	broad.mit.edu	37	17	39644901	39644901	+	Missense_Mutation	SNP	G	G	A	rs148033888	byFrequency	TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr17:39644901G>A	ENST00000393986.2	-	3	597	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	KRT36_ENST00000328119.6_Missense_Mutation_p.R179W			O76013	KRT36_HUMAN	keratin 36	179	Linker 1.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CACTTGGTCCGGAAGTCGTCA	0.552000													23	42					0	0	0.624587	0	0
PZP	5858	broad.mit.edu	37	12	9349218	9349218	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr12:9349218C>G	ENST00000261336.2	-	9	959	c.931G>C	c.(931-933)Ggc>Cgc	p.G311R	PZP_ENST00000381997.2_Missense_Mutation_p.G180R	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ATTTCAAAGCCCGTATTTGTA	0.393000													20	58					0	0	0.575678	0	0
ZNF479	90827	broad.mit.edu	37	7	57187579	57187579	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr7:57187579G>A	ENST00000331162.4	-	5	1813	c.1543C>T	c.(1543-1545)Cac>Tac	p.H515Y		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TCTCCAGTGTGAATTATCTTA	0.348000													5	20					0	0	0.184627	0	0
DDX41	51428	broad.mit.edu	37	5	176941732	176941732	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr5:176941732G>C	ENST00000507955.1	-	9	1428	c.905C>G	c.(904-906)tCc>tGc	p.S302C		NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	302	Helicase ATP-binding.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CTCTTTCACGGACATGCCCCC	0.627000													3	207					0	0	0.115264	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110447468	110447468	+	Silent	SNP	C	C	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr8:110447468C>T	ENST00000378402.5	+	29	3494	c.3390C>T	c.(3388-3390)ccC>ccT	p.P1130P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1130	IPT/TIG 4.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GACATGCCCCCGTTGCTGTGT	0.408000										HNSCC(38;0.096)			55	83					0	0	0.870114	0	0
FIG4	9896	broad.mit.edu	37	6	110106193	110106193	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr6:110106193C>T	ENST00000230124.3	+	17	2034	c.1910C>T	c.(1909-1911)cCa>cTa	p.P637L	FIG4_ENST00000441478.2_Missense_Mutation_p.P360L	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	637					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TGGTGGACACCAGAGGTGATA	0.269000													10	90					0	0	0.361761	0	0
CCNA1	8900	broad.mit.edu	37	13	37014297	37014297	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr13:37014297G>A	ENST00000418263.1	+	6	1422	c.1072G>A	c.(1072-1074)Gtc>Atc	p.V358I	CCNA1_ENST00000449823.1_Missense_Mutation_p.V315I|CCNA1_ENST00000255465.4_Missense_Mutation_p.V359I|CCNA1_ENST00000440264.1_Missense_Mutation_p.V315I	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	359					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		AGGAGTGTGCGTCAGGACTGA	0.463000													30	24					0	0	0.740014	0	0
OR5K4	403278	broad.mit.edu	37	3	98073476	98073476	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:98073476G>C	ENST00000354924.2	+	1	779	c.779G>C	c.(778-780)gGa>gCa	p.G260A	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						ATGTATATTGGACCATCTGAA	0.348000													4	178					0	0	0.184627	0	0
ZFAND6	54469	broad.mit.edu	37	15	80412738	80412738	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr15:80412738T>G	ENST00000261749.6	+	3	474	c.52T>G	c.(52-54)Tgt>Ggt	p.C18G	ZFAND6_ENST00000558494.1_Missense_Mutation_p.C18G|ZFAND6_ENST00000559157.1_Missense_Mutation_p.C18G|ZFAND6_ENST00000558688.1_Missense_Mutation_p.C18G|ZFAND6_ENST00000559775.1_Missense_Mutation_p.C18G|ZFAND6_ENST00000561060.1_Missense_Mutation_p.C18G|ZFAND6_ENST00000559835.1_Missense_Mutation_p.C18G|ZFAND6_ENST00000558087.1_Missense_Mutation_p.C18G	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	18							DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						TTCCACTGGCTGTGGATTTTA	0.393000													29	58					0	0	0.740014	0	0
SLC13A5	284111	broad.mit.edu	37	17	6599181	6599181	+	Silent	SNP	G	G	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr17:6599181G>T	ENST00000433363.2	-	7	1152	c.919C>A	c.(919-921)Cgg>Agg	p.R307R	SLC13A5_ENST00000573648.1_Silent_p.R307R|SLC13A5_ENST00000381074.4_Silent_p.R264R|SLC13A5_ENST00000293800.6_Silent_p.R290R	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	307						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CCCAGCTTCCGGTACTCCTCC	0.567000													26	156					6.07407e-21	7.05151e-21	0.717897	1	0
FSTL5	56884	broad.mit.edu	37	4	162307361	162307361	+	Silent	SNP	C	C	T	rs35820116	byFrequency	TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr4:162307361C>T	ENST00000306100.5	-	16	2518	c.2082G>A	c.(2080-2082)acG>acA	p.T694T	RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Silent_p.T693T|FSTL5_ENST00000427802.2_Silent_p.T684T|FSTL5_ENST00000379164.4_Silent_p.T693T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	694						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATGGAGTGCCCGTCACATCAC	0.478000													4	49					0	0	0.217242	0	0
GABBR2	9568	broad.mit.edu	37	9	101470780	101470780	+	Silent	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr9:101470780G>A	ENST00000259455.2	-	1	699	c.240C>T	c.(238-240)gcC>gcT	p.A80A		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	80					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CCAGTTCCACGGCGGGGAGCA	0.697000													11	8					0	0	0.387290	0	0
CSMD1	64478	broad.mit.edu	37	8	2976061	2976061	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr8:2976061T>C	ENST00000520002.1	-	43	6848	c.6293A>G	c.(6292-6294)tAc>tGc	p.Y2098C	CSMD1_ENST00000542608.1_Missense_Mutation_p.Y2097C|CSMD1_ENST00000537824.1_Missense_Mutation_p.Y2097C|CSMD1_ENST00000602723.1_Missense_Mutation_p.Y2098C|CSMD1_ENST00000400186.3_Missense_Mutation_p.Y2098C|CSMD1_ENST00000602557.1_Missense_Mutation_p.Y2098C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2098	Sushi 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTTGATCATGTACCCATTCTG	0.418000													22	56					0	0	0.639603	0	0
TOLLIP	54472	broad.mit.edu	37	11	1309866	1309866	+	Silent	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr11:1309866G>A	ENST00000527886.1	-	4	680	c.300C>T	c.(298-300)gtC>gtT	p.V100V	TOLLIP_ENST00000263646.7_Silent_p.V141V|TOLLIP_ENST00000525159.1_Silent_p.V108V|TOLLIP_ENST00000528719.1_5'UTR|TOLLIP_ENST00000317204.6_Silent_p.V169V|TOLLIP_ENST00000542915.1_Silent_p.V119V|TOLLIP_ENST00000527938.1_Intron			Q9H0E2	TOLIP_HUMAN	toll interacting protein	169	C2.				cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding			large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		CGTAGGACATGACGAGGTTGA	0.647000													13	25					0	0	0.435327	0	0
ZNF394	84124	broad.mit.edu	37	7	99097569	99097569	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr7:99097569C>T	ENST00000337673.6	-	1	351	c.148G>A	c.(148-150)Gag>Aag	p.E50K	ZNF394_ENST00000394177.3_Intron|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_Missense_Mutation_p.E50K	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	50					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TAGTTGGGCTCCCAACTTCCG	0.642000													8	57					0	0	0.278610	0	0
DPYSL4	10570	broad.mit.edu	37	10	134008356	134008356	+	Silent	SNP	C	C	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr10:134008356C>T	ENST00000338492.4	+	4	485	c.321C>T	c.(319-321)caC>caT	p.H107H	DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368629.1_Silent_p.H30H|DPYSL4_ENST00000368627.1_Silent_p.H30H	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	107					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CAGTGGACCACGTCTTCCCCG	0.642000													26	77					0	0	0.740014	0	0
PRKY	5616	broad.mit.edu	37	Y	7235438	7235438	+	RNA	SNP	C	C	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chrY:7235438C>T	ENST00000528056.1	+	0	1198					NR_028062.1															large_intestine(2)|lung(3)|skin(1)	6						GGTTCCGCTCCGTGGACTGGA	0.488000													5	11					0	0	0.217242	0	0
TFRC	7037	broad.mit.edu	37	3	195792459	195792459	+	Silent	SNP	T	T	C			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:195792459T>C	ENST00000360110.4	-	10	1222	c.1053A>G	c.(1051-1053)ggA>ggG	p.G351G	TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Silent_p.G69G|TFRC_ENST00000392396.3_Silent_p.G351G|TFRC_ENST00000420415.1_Silent_p.G270G	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	351					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		AGGGACAGTCTCCTTCCATAT	0.438000			T	BCL6	NHL								19	180					0	0	0.592651	0	0
CCSER2	54462	broad.mit.edu	37	10	86131078	86131078	+	Silent	SNP	T	T	C			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr10:86131078T>C	ENST00000224756.8	+	2	455	c.270T>C	c.(268-270)gaT>gaC	p.D90D	CCSER2_ENST00000359979.4_Silent_p.D90D|CCSER2_ENST00000372088.2_Silent_p.D90D	NM_018999.2	NP_061872.2			coiled-coil serine-rich protein 2																		ATTCACATGATAAAATAATTG	0.328000													3	46					0	0	0.115264	0	0
LAMC3	10319	broad.mit.edu	37	9	133907471	133907471	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr9:133907471C>T	ENST00000361069.4	+	3	851	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	240	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTCTCTAGACCGGCTCAACAC	0.567000													10	149					0	0	0.387290	0	0
MBOAT1	154141	broad.mit.edu	37	6	20126818	20126818	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr6:20126818A>G	ENST00000541730.1	-	6	792	c.197T>C	c.(196-198)aTa>aCa	p.I66T	MBOAT1_ENST00000324607.7_Missense_Mutation_p.I215T|MBOAT1_ENST00000536798.1_Missense_Mutation_p.I215T			Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	215					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			CTTCATGTGTATATGCTTCCC	0.408000											OREG0017224	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	135					0	0	0.150653	0	0
NBEAL2	23218	broad.mit.edu	37	3	47044464	47044464	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:47044464G>A	ENST00000450053.3	+	34	5656	c.5477G>A	c.(5476-5478)cGc>cAc	p.R1826H	NBEAL2_ENST00000292309.5_Missense_Mutation_p.R1642H|NBEAL2_ENST00000383740.2_Missense_Mutation_p.R105H	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1826							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCCATCCCCCGCTGGAAACTG	0.612000													16	19					0	0	0.500413	0	0
CFL1	1072	broad.mit.edu	37	11	65623573	65623573	+	Silent	SNP	G	G	A	rs144718277		TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr11:65623573G>A	ENST00000525451.2	-	3	859	c.144C>T	c.(142-144)atC>atT	p.I48I	CFL1_ENST00000534769.1_Silent_p.I86I|CFL1_ENST00000524553.1_Silent_p.I31I|CFL1_ENST00000531407.1_Silent_p.I31I|CFL1_ENST00000308162.5_Silent_p.I48I|CFL1_ENST00000527344.1_Silent_p.I31I|CFL1_ENST00000531413.1_Silent_p.I31I			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	48	ADF-H.				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		CCTCCTCCAGGATGATGTTCT	0.562000													5	54					0	0	0.184627	0	0
DGCR5	26220	broad.mit.edu	37	22	18975325	18975325	+	RNA	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr22:18975325G>A	ENST00000438934.1	+	0	201				DGCR5_ENST00000421572.1_RNA|DGCR5_ENST00000440005.2_RNA																							GAGTCCCATGGTTCGACGCCA	0.502000													4	10					0	0	0.184627	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88193977	88193977	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr9:88193977G>A	ENST00000357081.3	-	24	3344	c.3200C>T	c.(3199-3201)gCa>gTa	p.A1067V	AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.A1027V|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.A1079V|AGTPBP1_ENST00000432218.1_Intron			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1067					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CATGCAAAATGCTGGGGCGAT	0.343000													44	35					0	0	0.853193	0	0
KMT2D	8085	broad.mit.edu	37	12	49447022	49447022	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr12:49447022C>A	ENST00000301067.7	-	7	921	c.922G>T	c.(922-924)Gag>Tag	p.E308*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGCAGTTCCTCCATGGGTGGT	0.478000													25	92					1.32003e-05	1.43358e-05	0.693898	1	0
TRIM37	4591	broad.mit.edu	37	17	57125153	57125153	+	Silent	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr17:57125153G>A	ENST00000376149.3	-	16	2001	c.1192C>T	c.(1192-1194)Ctg>Ttg	p.L398L	TRIM37_ENST00000262294.7_Silent_p.L520L|TRIM37_ENST00000393065.2_Silent_p.L486L|TRIM37_ENST00000393066.3_Silent_p.L520L			O94972	TRI37_HUMAN	tripartite motif containing 37	520	MATH.					perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ACAAGATCCAGATCCAGATCT	0.418000									Mulibrey Nanism				5	57					0	0	0.217242	0	0
MYRIP	25924	broad.mit.edu	37	3	40085595	40085595	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:40085595G>A	ENST00000396217.3	+	3	280	c.35G>A	c.(34-36)aGc>aAc	p.S12N	MYRIP_ENST00000425621.1_Silent_p.K55K|MYRIP_ENST00000444716.1_Silent_p.K55K|MYRIP_ENST00000302541.6_Silent_p.K55K			Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	97	RabBD.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TCCTCTCGAAGCACCAGCAGT	0.542000													4	32					0	0	0.150653	0	0
SSUH2	51066	broad.mit.edu	37	3	8671370	8671370	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:8671370C>G	ENST00000317371.4	-	14	1727	c.502G>C	c.(502-504)Ggc>Cgc	p.G168R	SSUH2_ENST00000341795.3_Missense_Mutation_p.G168R|SSUH2_ENST00000415132.1_Missense_Mutation_p.G168R|SSUH2_ENST00000544814.1_Missense_Mutation_p.G190R					ssu-2 homolog (C. elegans)																		CCGTGGCAGCCGCTGCACTTG	0.627000													10	52					0	0	0.457914	0	0
TAF5	6877	broad.mit.edu	37	10	105146990	105146990	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr10:105146990G>T	ENST00000369839.3	+	9	1911	c.1888G>T	c.(1888-1890)Gtg>Ttg	p.V630L	TAF5_ENST00000351396.4_Missense_Mutation_p.V575L	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	630					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TCTTGCTGATGTGAATTGTAC	0.423000													21	39					7.45023e-12	8.45475e-12	0.592651	1	0
DISC1	27185	broad.mit.edu	37	1	232162197	232162197	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr1:232162197C>T	ENST00000439617.2	+	12	2377	c.2324C>T	c.(2323-2325)tCt>tTt	p.S775F	DISC1_ENST00000366637.3_Missense_Mutation_p.S85F	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	775	Interaction with ATF4 and ATF5.|Interaction with PAFAH1B1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				TACATCCTTTCTGCAGAACTT	0.443000													4	6					0	0	0.150653	0	0
PLEKHA1	59338	broad.mit.edu	37	10	124186509	124186509	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr10:124186509A>G	ENST00000368988.1	+	11	985	c.862A>G	c.(862-864)Att>Gtt	p.I288V	PLEKHA1_ENST00000538022.1_Missense_Mutation_p.I288V|PLEKHA1_ENST00000368990.3_Missense_Mutation_p.I288V|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.I288V|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.I288V			Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	288	PH 2.				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTCTGGCGCCATTGTAGCACA	0.473000													21	43					0	0	0.681144	0	0
ROR2	4920	broad.mit.edu	37	9	94486331	94486331	+	Silent	SNP	C	C	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr9:94486331C>T	ENST00000375708.3	-	9	2643	c.2445G>A	c.(2443-2445)ccG>ccA	p.P815P	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	815	Pro-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CGTAGAGCTGCGGCGGGGGCA	0.677000													8	78					0	0	0.411799	0	0
MARCKSL1	65108	broad.mit.edu	37	1	32800482	32800482	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr1:32800482C>T	ENST00000329421.7	-	2	649	c.304G>A	c.(304-306)Ggc>Agc	p.G102S		NM_023009.6	NP_075385.1	P49006	MRP_HUMAN	MARCKS-like 1	102						plasma membrane	calmodulin binding			breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AAGGACAGGCCGCTCAATTTG	0.577000													3	54					0	0	0.115264	0	0
MKL1	57591	broad.mit.edu	37	22	40817050	40817050	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr22:40817050C>A	ENST00000396617.3	-	10	1272	c.682G>T	c.(682-684)Gag>Tag	p.E228*	MKL1_ENST00000402042.1_Nonsense_Mutation_p.E178*|MKL1_ENST00000355630.3_Nonsense_Mutation_p.E228*|MKL1_ENST00000407029.1_Nonsense_Mutation_p.E228*			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	228	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGCTTCAGCTCCTTGGCCTTC	0.597000			T	RBM15	acute megakaryocytic leukemia								6	77					8.12818e-05	8.73347e-05	0.248553	1	0
ITGA1	3672	broad.mit.edu	37	5	52235492	52235492	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr5:52235492A>G	ENST00000282588.6	+	25	3609	c.3151A>G	c.(3151-3153)Act>Gct	p.T1051A	CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	1051					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GACTACATCAACTGACCATCT	0.323000													31	37					0	0	0.729181	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687277	27687277	+	Silent	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr10:27687277G>A	ENST00000438700.3	-	4	2367	c.2250C>T	c.(2248-2250)ttC>ttT	p.F750F		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	750					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TTGTCTGAATGAAGCCCCGGG	0.318000													4	24					0	0	0.184627	0	0
RD3	343035	broad.mit.edu	37	1	211652474	211652474	+	Silent	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr1:211652474G>A	ENST00000367002.4	-	3	1655	c.492C>T	c.(490-492)agC>agT	p.S164S	RD3_ENST00000484910.1_5'UTR	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	164					response to stimulus|visual perception					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		TCCTGATGTCGCTGGCGAAGG	0.701000													9	13					0	0	0.361761	0	0
DPP10	57628	broad.mit.edu	37	2	116534856	116534856	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr2:116534856G>A	ENST00000410059.1	+	14	1774	c.1294G>A	c.(1294-1296)Gat>Aat	p.D432N	DPP10_ENST00000310323.8_Missense_Mutation_p.D425N|DPP10_ENST00000393147.2_Missense_Mutation_p.D436N|DPP10_ENST00000409163.1_Missense_Mutation_p.D382N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	432					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CTTGGCATACGATGAAACTAC	0.358000													9	36					0	0	0.361761	0	0
SIDT1	54847	broad.mit.edu	37	3	113331029	113331029	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:113331029C>T	ENST00000264852.4	+	19	2680	c.1954C>T	c.(1954-1956)Cgt>Tgt	p.R652C	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Missense_Mutation_p.R652C	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	652						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TTATATGGGTCGTTTCAAGAT	0.413000													5	65					0	0	0.184627	0	0
GRIK3	2899	broad.mit.edu	37	1	37337839	37337839	+	Missense_Mutation	SNP	G	G	A	rs141595955		TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr1:37337839G>A	ENST00000373091.3	-	4	698	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	GRIK3_ENST00000373093.4_Missense_Mutation_p.R228C	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	228					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AAGATAATGCGGAATTCCCGG	0.597000													14	23					0	0	0.479597	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626678	140626678	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr5:140626678G>T	ENST00000231173.3	+	1	1532	c.1532G>T	c.(1531-1533)gGc>gTc	p.G511V		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		511	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGGACAACGGCCACCTGTTC	0.682000													29	89					1.75199e-13	2.0108e-13	0.717897	1	0
BOLL	66037	broad.mit.edu	37	2	198636708	198636708	+	Splice_Site	SNP	T	T	G			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr2:198636708T>G	ENST00000321801.7	-	6	959		c.e6-2		BOLL_ENST00000282278.8_Splice_Site|BOLL_ENST00000392296.4_Splice_Site|AC011997.1_ENST00000409845.1_Intron|BOLL_ENST00000433157.1_Splice_Site|BOLL_ENST00000430004.1_Splice_Site	NM_197970.2	NP_932074.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein						cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						TACTAGAACCTAAAGCAAAGA	0.279000													16	87					0	0	0.500413	0	0
NKTR	4820	broad.mit.edu	37	3	42659092	42659092	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:42659092A>G	ENST00000232978.8	+	3	277	c.89A>G	c.(88-90)gAc>gGc	p.D30G	RP4-613B23.1_ENST00000445452.1_RNA|NKTR_ENST00000442970.1_Missense_Mutation_p.D30G|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	30	PPIase cyclophilin-type.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CTCTTCTCAGACATATGTCCA	0.328000													10	42					0	0	0.335167	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119916	38119916	+	Silent	SNP	C	C	T	rs55853304		TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr22:38119916C>T	ENST00000406386.3	+	7	1608	c.1353C>T	c.(1351-1353)ccC>ccT	p.P451P	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	451					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAGACAACCCCACAACATCCT	0.602000													8	47					0	0	0.335167	0	0
CFL1	1072	broad.mit.edu	37	11	65623576	65623576	+	Silent	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr11:65623576G>A	ENST00000525451.2	-	3	856	c.141C>T	c.(139-141)atC>atT	p.I47I	CFL1_ENST00000534769.1_Silent_p.I85I|CFL1_ENST00000524553.1_Silent_p.I30I|CFL1_ENST00000531407.1_Silent_p.I30I|CFL1_ENST00000308162.5_Silent_p.I47I|CFL1_ENST00000527344.1_Silent_p.I30I|CFL1_ENST00000531413.1_Silent_p.I30I			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	47	ADF-H.				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		CCTCCAGGATGATGTTCTTCT	0.557000													4	58					0	0	0.150653	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140723799	140723799	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr5:140723799G>A	ENST00000253812.6	+	1	199	c.199G>A	c.(199-201)Gtc>Atc	p.V67I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCCGCATCGTCTCCAGAGG	0.617000											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	163					0	0	0.217242	0	0
MGAM	8972	broad.mit.edu	37	7	141766419	141766419	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr7:141766419G>A	ENST00000475668.2	+	41	4871	c.4817G>A	c.(4816-4818)aGa>aAa	p.R1606K	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1606	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AATATTTCCAGAAATGTCCTG	0.502000													17	84					0	0	0.500413	0	0
PDE11A	50940	broad.mit.edu	37	2	178682613	178682613	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr2:178682613A>G	ENST00000286063.5	-	8	1933	c.1616T>C	c.(1615-1617)tTt>tCt	p.F539S	PDE11A_ENST00000409504.1_Missense_Mutation_p.F181S|PDE11A_ENST00000449286.2_Missense_Mutation_p.F181S|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000389683.3_Missense_Mutation_p.F95S|PDE11A_ENST00000358450.4_Missense_Mutation_p.F289S	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	539	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TGCATCATCAAAAGGTTTCCC	0.378000									Primary Pigmented Nodular Adrenocortical Disease, Familial				5	34					0	0	0.248553	0	0
HYDIN	54768	broad.mit.edu	37	16	70891747	70891747	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr16:70891747A>T	ENST00000393567.2	-	72	12306	c.12156T>A	c.(12154-12156)caT>caA	p.H4052Q		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4052										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGATGCCCAGATGGAAAGGTG	0.468000													3	9					0	0	0.184627	0	0
HEG1	57493	broad.mit.edu	37	3	124692701	124692701	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:124692701G>C	ENST00000311127.4	-	16	3937	c.3870C>G	c.(3868-3870)ttC>ttG	p.F1290L		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1290						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GGGACATTTGGAAATCTCCAC	0.383000													4	98					0	0	0.184627	0	0
RHO	6010	broad.mit.edu	37	3	129251571	129251571	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr3:129251571G>A	ENST00000296271.3	+	4	986	c.892G>A	c.(892-894)Gcc>Acc	p.A298T		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	298					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	TGCCAAGAGCGCCGCCATCTA	0.602000													7	111					0	0	0.278610	0	0
ZNF526	116115	broad.mit.edu	37	19	42728645	42728645	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr19:42728645G>A	ENST00000301215.3	+	3	315	c.90G>A	c.(88-90)atG>atA	p.M30I		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	30					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CGGCAGAGATGATGGAGATGT	0.557000													5	85					0	0	0.184627	0	0
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1																						CAGCAGCAGCCAGCTGAGCACC	0.718													3	6	---	---	---	---					
RPLP0P6	220717	broad.mit.edu	37	2	38710012	38710013	+	RNA	INS	-	-	A	rs71402229		TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr2:38710012_38710013insA	ENST00000417039.1	-	0	696																											CTTACTTCTTtaaaaaataaat	0.252													2	4	---	---	---	---					
GPR17	2840	broad.mit.edu	37	2	128409269	128409270	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr2:128409269_128409270insC	ENST00000544369.1	+	4	1655_1656	c.1044_1045insC	c.(1042-1047)ccccccfs	p.PP348fs	LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000272644.3_Frame_Shift_Ins_p.PP348fs|LIMS2_ENST00000409455.1_Intron|GPR17_ENST00000486700.1_3'UTR|GPR17_ENST00000393018.3_Frame_Shift_Ins_p.PP348fs|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000410011.1_Intron	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	348						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		TCAAGGGCCCGCCCCCCAGCTT	0.619													34	65	---	---	---	---					
LRBA	987	broad.mit.edu	37	4	151336690	151336690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr4:151336690delT	ENST00000535741.1	-	47	7567	c.7094delA	c.(7093-7095)atfs	p.N2365fs	LRBA_ENST00000357115.3_Frame_Shift_Del_p.N2376fs|LRBA_ENST00000510413.1_Frame_Shift_Del_p.N2365fs|LRBA_ENST00000507224.1_Frame_Shift_Del_p.N2365fs|LRBA_ENST00000503716.1_5'UTR			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2376	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AAGATTATAATTATTGAAGTT	0.348													7	34	---	---	---	---					
PCDHGB4	8641	broad.mit.edu	37	5	140767492	140767497	+	In_Frame_Del	DEL	TGCCAG	TGCCAG	-			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr5:140767492_140767497delTGCCAG	ENST00000519479.1	+	1	41_46	c.41_46delTGCCAG	c.(40-48)ctg>c	p.LPV14del	PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1												p.P15_V16delPV(1)		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)			GCTGAGAGGCTGCCAGTGCTCTTTCT	0.617											OREG0016859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	2	---	---	---	---					
C6orf222	389384	broad.mit.edu	37	6	36294499	36294500	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr6:36294499_36294500insG	ENST00000437635.2	-	5	1000_1001	c.823_824insC	c.(823-825)gccfs	p.A275fs		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	275										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TGGGTTTGGCAGGGCCACCCCC	0.535													7	309	---	---	---	---					
NOD1	10392	broad.mit.edu	37	7	30494800	30494801	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr7:30494800_30494801insA	ENST00000222823.4	-	5	853_854	c.328_329insT	c.(328-330)cccfs	p.P110fs	NOD1_ENST00000423334.2_Frame_Shift_Ins_p.P110fs	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	110					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CAGGGAAGGGGAGAAGCCGATC	0.614													9	62	---	---	---	---					
FAM83H	286077	broad.mit.edu	37	8	144811235	144811236	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr8:144811235_144811236insC	ENST00000388913.3	-	4	763_764	c.638_639insG	c.(637-639)gccfs	p.A213fs		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	213					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGTAGGTGGGGCCCGCCACAGT	0.624													16	122	---	---	---	---					
PARD3	56288	broad.mit.edu	37	10	34671799	34671808	+	Frame_Shift_Del	DEL	ATGGAACCAA	ATGGAACCAA	-			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr10:34671799_34671808delATGGAACCAA	ENST00000374789.3	-	9	1384_1393	c.1059_1068delTTGGTTCCAT	c.(1057-1068)atfs	p.IWFH353fs	PARD3_ENST00000340077.5_Frame_Shift_Del_p.IWFH353fs|PARD3_ENST00000374773.1_Frame_Shift_Del_p.IWFH353fs|PARD3_ENST00000374776.1_Frame_Shift_Del_p.IWFH353fs|PARD3_ENST00000545693.1_Frame_Shift_Del_p.IWFH353fs|PARD3_ENST00000374788.3_Frame_Shift_Del_p.IWFH353fs|PARD3_ENST00000545260.1_Frame_Shift_Del_p.IWFH309fs|PARD3_ENST00000544292.1_Frame_Shift_Del_p.IWFH83fs|PARD3_ENST00000374794.3_Frame_Shift_Del_p.IWFH309fs|PARD3_ENST00000374790.3_Frame_Shift_Del_p.IWFH309fs|PARD3_ENST00000350537.4_Frame_Shift_Del_p.IWFH353fs|PARD3_ENST00000346874.4_Frame_Shift_Del_p.IWFH353fs	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	353	PDZ 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CAGGAACCACATGGAACCAAATGATGGGTG	0.400													36	96	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651191	1651199	+	In_Frame_Del	DEL	GGCTGTGGA	GGCTGTGGA	-	rs71025763		TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr11:1651191_1651199delGGCTGTGGA	ENST00000399676.2	+	1	159_167	c.121_129delGGCTGTGGA	c.(121-129)del	p.GCG47del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ctgtggctccggctgtggaggctgtgggg	0.713													18	38	---	---	---	---					
CD163	9332	broad.mit.edu	37	12	7636068	7636069	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr12:7636068_7636069insA	ENST00000359156.4	-	12	3184_3185	c.2982_2983insT	c.(2980-2985)aaaagtfs	p.KS994fs	CD163_ENST00000541972.1_Frame_Shift_Ins_p.KS982fs|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000396620.3_Frame_Shift_Ins_p.KS1027fs|CD163_ENST00000432237.2_Frame_Shift_Ins_p.KS994fs	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	994	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CACTTCACTTCATTGAGCCATA	0.515													25	48	---	---	---	---					
KRT5	3852	broad.mit.edu	37	12	52911893	52911894	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr12:52911893_52911894insA	ENST00000252242.4	-	3	1214_1215	c.824_825insT	c.(823-825)caafs	p.Q275fs		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	275	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCACCTTCTTCAGCATCACAAA	0.520													93	158	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539		TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110																											AGTTCATCTTCTCAGAGCTGCTG	0.576													3	3	---	---	---	---					
VEZF1	7716	broad.mit.edu	37	17	56056605	56056607	+	In_Frame_Del	DEL	TGC	TGC	-	rs61731354	byFrequency	TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr17:56056605_56056607delTGC	ENST00000584396.1	-	5	1105_1107	c.1017_1019delGCA	c.(1015-1020)caa>ca	p.QQ343del	VEZF1_ENST00000581208.1_In_Frame_Del_p.QQ352del			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	352	Poly-Gln.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						ttgttgttgttgctgctgctgct	0.463													7	165	---	---	---	---					
TPRX1	284355	broad.mit.edu	37	19	48305543	48305566	+	In_Frame_Del	DEL	GGGCCTGGGATCGGGCCTGGGTTC	GGGCCTGGGATCGGGCCTGGGTTC	-	rs139519720	by1000genomes	TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr19:48305543_48305566delGGGCCTGGGATCGGGCCTGGGTTC	ENST00000535759.1	-	4	992_1015	c.993_1016delGAACCCAGGCCCGATCCCAGGCCC	c.(991-1017)cca>cc	p.PNPGPIPGP331del	TPRX1_ENST00000322175.3_In_Frame_Del_p.PNPGPIPGP234del|TPRX1_ENST00000543508.1_In_Frame_Del_p.PNPGPIPGP224del			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	234						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P234P(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		gcctgagattgggcctgggatcgggcctgggttcgggcctgaga	0.661													3	5	---	---	---	---					
SCAF4	57466	broad.mit.edu	37	21	33063194	33063194	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr21:33063194delA	ENST00000286835.7	-	15	2183	c.1801delT	c.(1801-1803)atfs	p.Y601fs	SCAF4_ENST00000434667.3_Frame_Shift_Del_p.Y586fs|SCAF4_ENST00000399804.1_Frame_Shift_Del_p.Y601fs	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	601						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CATGGAATATAAGTAACACCA	0.378													25	73	---	---	---	---					
TBC1D10A	83874	broad.mit.edu	37	22	30688485	30688498	+	Frame_Shift_Del	DEL	ACATGCTGTGGGGG	ACATGCTGTGGGGG	-	rs145310510	byFrequency	TCGA-CQ-5323-01A-01D-1683-08	TCGA-CQ-5323-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	892067ef-c465-46ea-8f91-10636dd0081b	66698a51-908a-483f-8e89-18fca752ec64	g.chr22:30688485_30688498delACATGCTGTGGGGG	ENST00000215790.7	-	9	1557_1570	c.1393_1406delCCCCCACAGCATGT	c.(1393-1407)gfs	p.PPQHV465fs	TBC1D10A_ENST00000403362.1_Frame_Shift_Del_p.PPQHV377fs|RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403477.3_Frame_Shift_Del_p.PPQHV472fs	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	465						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	p.V469G(1)|p.P466Q(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CTTCGGGGGCACATGCTGTGGGGGACATGCATCT	0.636													13	194	---	---	---	---