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
WDR17	116966	broad.mit.edu	37	4	177072972	177072972	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:177072972C>A	ENST00000393643.2	+	17	2566	c.2314C>A	c.(2314-2316)Caa>Aaa	p.Q772K	WDR17_ENST00000280190.4_Missense_Mutation_p.Q796K|WDR17_ENST00000507824.2_Missense_Mutation_p.Q779K|WDR17_ENST00000508596.1_Missense_Mutation_p.Q772K	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	796										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GTCTGAAGCTCAAGAACTAAC	0.313000													14	23					1.05317e-09	1.2404e-09	1	1	0
GLDC	2731	broad.mit.edu	37	9	6602195	6602195	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr9:6602195C>A	ENST00000321612.6	-	8	1219	c.1069G>T	c.(1069-1071)Ggg>Tgg	p.G357W		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	357					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	ACTTCTTTCCCAGTGGCATCT	0.453000													9	3					1.12685e-05	1.22887e-05	1	1	0
TMEM225	338661	broad.mit.edu	37	11	123756046	123756046	+	Silent	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:123756046G>A	ENST00000375026.2	-	1	303	c.87C>T	c.(85-87)acC>acT	p.T29T		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	29						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						ATTTATCTAAGGTGATTCCCA	0.423000													26	48					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24923265	24923265	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr15:24923265C>G	ENST00000329468.2	+	1	2725	c.2251C>G	c.(2251-2253)Cag>Gag	p.Q751E		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TTTGCCTGCACAGTCAGTCAG	0.562000													201	126					0	0	1	0	0
MISP	126353	broad.mit.edu	37	19	757706	757706	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:757706G>T	ENST00000215582.6	+	2	863	c.760G>T	c.(760-762)Gtg>Ttg	p.V254L		NM_173481.2	NP_775752.1			mitotic spindle positioning																		GGTGAAGGGGGTGGTCAGGGA	0.657000													11	15					1.58986e-06	1.74819e-06	1	1	0
PTPRM	5797	broad.mit.edu	37	18	7955280	7955280	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr18:7955280G>T	ENST00000332175.8	+	7	2037	c.1000G>T	c.(1000-1002)Gat>Tat	p.D334Y	PTPRM_ENST00000444013.1_Missense_Mutation_p.D121Y|PTPRM_ENST00000400060.4_Missense_Mutation_p.D334Y|PTPRM_ENST00000400053.4_Missense_Mutation_p.D272Y|PTPRM_ENST00000580170.1_Missense_Mutation_p.D334Y	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	334	Fibronectin type-III 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCAGCCAGTCGATTCCACGAG	0.572000													17	26					3.41278e-10	4.05555e-10	1	1	0
ZNF716	441234	broad.mit.edu	37	7	57529304	57529304	+	Silent	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:57529304C>T	ENST00000420713.1	+	4	1249	c.1137C>T	c.(1135-1137)ccC>ccT	p.P379P		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GAGAGAAACCCTACACTTGTG	0.413000													12	15					0	0	1	0	0
LRP3	4037	broad.mit.edu	37	19	33696504	33696504	+	Silent	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:33696504G>T	ENST00000253193.7	+	5	1030	c.828G>T	c.(826-828)ggG>ggT	p.G276G		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	276	CUB 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CCGCTCGCGGGCCCTCAGACC	0.701000													7	20					0.00307968	0.00319419	1	1	0
ZNF841	284371	broad.mit.edu	37	19	52569824	52569824	+	Silent	SNP	G	G	C	rs139155604	by1000genomes	TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:52569824G>C	ENST00000389534.4	-	7	1770	c.1311C>G	c.(1309-1311)gtC>gtG	p.V437V	ZNF841_ENST00000359973.2_Silent_p.V321V|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Silent_p.V437V|ZNF841_ENST00000426391.2_Silent_p.V321V	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TCTGATAAAAGACCTTGCCAC	0.388000													6	4					0	0	1	0	0
IL12B	3593	broad.mit.edu	37	5	158749420	158749420	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:158749420C>T	ENST00000231228.2	-	4	919	c.464G>A	c.(463-465)aGt>aAt	p.S155N		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	155					cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTTTTGACACTGAATGTCAA	0.418000													24	17					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971017	21971017	+	Missense_Mutation	SNP	G	G	T	rs121913386		TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr9:21971017G>T	ENST00000304494.5	-	2	611	c.341C>A	c.(340-342)cCc>cAc	p.P114H	CDKN2A_ENST00000579122.1_Missense_Mutation_p.P114H|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Missense_Mutation_p.P63H|CDKN2A_ENST00000479692.2_Missense_Mutation_p.P63H|CDKN2A_ENST00000494262.1_Missense_Mutation_p.P63H|CDKN2A_ENST00000498628.2_Missense_Mutation_p.P63H|CDKN2A_ENST00000361570.3_Silent_p.A169A|CDKN2A_ENST00000530628.2_Silent_p.A128A|CDKN2A_ENST00000579755.1_Silent_p.A128A|CDKN2A_ENST00000446177.1_Missense_Mutation_p.P114H|CDKN2A_ENST00000498124.1_Missense_Mutation_p.P114H|CDKN2A_ENST00000497750.1_Missense_Mutation_p.P63H	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	114			P -> L (in non-small cell lung carcinoma).|P -> S (found in some patients with melanoma; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.P114L(27)|p.P114H(3)|p.H83fs*2(2)|p.V115fs*11(1)|p.0(1)|p.A68fs*3(1)|p.A169A(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGGTCCACGGGCAGACGGCC	0.731000	P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			12	3					6.40141e-05	6.79909e-05	1	1	0
KLHL4	56062	broad.mit.edu	37	X	86919784	86919784	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:86919784C>A	ENST00000373119.4	+	10	2091	c.1946C>A	c.(1945-1947)tCa>tAa	p.S649*	KLHL4_ENST00000373114.4_Nonsense_Mutation_p.S649*	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	649						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AAAGGTGATTCATGGTCAACT	0.408000													16	4					1.15088e-07	1.29504e-07	1	1	0
RYR3	6263	broad.mit.edu	37	15	33916022	33916022	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr15:33916022T>A	ENST00000389232.4	+	20	2442	c.2372T>A	c.(2371-2373)aTg>aAg	p.M791K	RYR3_ENST00000415757.3_Missense_Mutation_p.M791K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	791	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGTTTCCTGATGGGTGGACGT	0.423000													58	43					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78669856	78669856	+	Splice_Site	SNP	T	T	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:78669856T>C	ENST00000286627.5	-	24	3795		c.e24-2		RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000406533.3_Splice_Site|KCNMA1_ENST00000354353.5_Splice_Site|KCNMA1_ENST00000372443.1_Splice_Site|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000404857.1_Splice_Site|KCNMA1_ENST00000286628.8_Splice_Site|KCNMA1_ENST00000404771.3_Splice_Site|KCNMA1_ENST00000372440.1_Splice_Site|RP11-443A13.5_ENST00000600782.1_RNA	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1						cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TATCGTTCACTAGAAAAAGCA	0.438000													7	23					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1																						ATCTTCTGCAATTCGGAGTCC	0.652000													3	48					0	0	1	0	0
ZNF548	147694	broad.mit.edu	37	19	57910317	57910317	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:57910317G>T	ENST00000366197.5	+	3	912	c.662G>T	c.(661-663)gGa>gTa	p.G221V	ZNF548_ENST00000336128.7_Missense_Mutation_p.G233V|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATCCACACAGGAGAAAGGTCT	0.383000													30	14					3.90053e-15	4.99343e-15	1	1	0
CYLC2	1539	broad.mit.edu	37	9	105767551	105767551	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr9:105767551C>A	ENST00000374798.3	+	5	708	c.638C>A	c.(637-639)aCa>aAa	p.T213K	CYLC2_ENST00000487798.1_Missense_Mutation_p.T213K	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	213	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AAAGGAGGTACAGAGAAAGAT	0.363000													14	22					4.3838e-07	4.90172e-07	1	1	0
GREB1	9687	broad.mit.edu	37	2	11728900	11728900	+	Silent	SNP	G	G	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:11728900G>C	ENST00000381486.2	+	10	1488	c.1188G>C	c.(1186-1188)ggG>ggC	p.G396G	GREB1_ENST00000234142.5_Silent_p.G396G|GREB1_ENST00000381483.2_Silent_p.G396G	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	396						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACCTCTGTGGGAACCTGAATG	0.572000													33	43					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763218	77763218	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr8:77763218C>G	ENST00000521891.2	+	10	4509	c.4061C>G	c.(4060-4062)cCc>cGc	p.P1354R	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1328R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1309R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1309R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1309						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTAAAGAACCCTTGGAAGTC	0.418000										HNSCC(33;0.089)			22	13					0	0	1	0	0
CCDC116	164592	broad.mit.edu	37	22	21991274	21991274	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr22:21991274G>A	ENST00000292779.3	+	5	1918	c.1757G>A	c.(1756-1758)cGt>cAt	p.R586H		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	0										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					AATGAGGGCCGTGATAAAGCC	0.552000													33	45					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8824906	8824906	+	Missense_Mutation	SNP	C	C	T	rs145762591	byFrequency	TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr18:8824906C>T	ENST00000359865.3	+	15	3540	c.3398C>T	c.(3397-3399)gCc>gTc	p.A1133V	SOGA2_ENST00000400050.3_Missense_Mutation_p.A1092V|SOGA2_ENST00000517570.1_Missense_Mutation_p.A1092V|SOGA2_ENST00000306329.11_Missense_Mutation_p.A1452V|SOGA2_ENST00000306285.7_Missense_Mutation_p.A458V|SOGA2_ENST00000518815.1_Missense_Mutation_p.A458V	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1443																	GACCTTTGGGCCGACAGGACC	0.622000													4	94					0	0	1	0	0
NDUFS8	4728	broad.mit.edu	37	11	67803773	67803773	+	Silent	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:67803773C>T	ENST00000313468.5	+	6	533	c.426C>T	c.(424-426)cgC>cgT	p.R142R	NDUFS8_ENST00000528492.1_5'UTR	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	142	4Fe-4S ferredoxin-type 2.				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(1)|lung(5)|skin(1)	8					NADH(DB00157)	GGACCACCCGCTATGACATCG	0.662000													18	19					0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109023501	109023501	+	Silent	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:109023501C>A	ENST00000478945.1	-	7	921	c.675G>T	c.(673-675)gtG>gtT	p.V225V		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	225						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGCCATGGACCACACACCACC	0.498000													12	30					5.50884e-06	6.0324e-06	1	1	0
PCDHA8	56140	broad.mit.edu	37	5	140222189	140222189	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:140222189G>A	ENST00000531613.1	+	1	1283	c.1283G>A	c.(1282-1284)cGg>cAg	p.R428Q	PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R428Q|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAACCGCGCGGGACGGGGGC	0.632000													75	96					0	0	1	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11862237	11862237	+	Missense_Mutation	SNP	G	G	A	rs147099217		TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr16:11862237G>A	ENST00000396516.2	-	11	1491	c.1294C>T	c.(1294-1296)Cca>Tca	p.P432S	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.P432S			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	432						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						GGATGTCTTGGAGTCACTGAT	0.413000													38	47					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144880744	144880744	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:144880744G>T	ENST00000369359.4	-	29	4330	c.4292C>A	c.(4291-4293)cCt>cAt	p.P1431H	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.P1295H|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.P1431H|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.P1295H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.P1251H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1295					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTCTTACCAGGACTGGTGGT	0.567000			T	PDGFRB	MPD								64	67					8.50881e-52	1.27033e-51	1	1	0
LRBA	987	broad.mit.edu	37	4	151682970	151682970	+	Silent	SNP	T	T	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:151682970T>G	ENST00000535741.1	-	35	6083	c.5610A>C	c.(5608-5610)gcA>gcC	p.A1870A	LRBA_ENST00000507224.1_Silent_p.A1870A|LRBA_ENST00000357115.3_Silent_p.A1870A|LRBA_ENST00000510413.1_Silent_p.A1870A			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1870						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)					AAGCAAGGCCTGCATTCTTCT	0.279000													19	34					0	0	1	0	0
EGFL6	25975	broad.mit.edu	37	X	13612977	13612977	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:13612977G>T	ENST00000361306.1	+	3	467	c.210G>T	c.(208-210)aaG>aaT	p.K70N	EGFL6_ENST00000380602.3_Missense_Mutation_p.K70N	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	70	EGF-like 1.				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						CTGGATGTAAGTTTGGTGAGT	0.458000													25	8					3.6726e-16	4.75912e-16	1	1	0
PON1	5444	broad.mit.edu	37	7	94944689	94944689	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:94944689A>T	ENST00000222381.3	-	4	546	c.315T>A	c.(313-315)agT>agA	p.S105R	PON1_ENST00000542556.1_Missense_Mutation_p.S105R	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	105					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	CATCAAATTTACTTCCAGTGA	0.358000													12	17					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18788696	18788696	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:18788696C>A	ENST00000406451.3	+	14	2119	c.1969C>A	c.(1969-1971)Cat>Aat	p.H657N	HDAC9_ENST00000432645.2_Missense_Mutation_p.H657N|HDAC9_ENST00000441542.2_Missense_Mutation_p.H660N|HDAC9_ENST00000401921.1_Missense_Mutation_p.H616N	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	657	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCACCCTGAGCATGCTGGACG	0.448000													9	9					0.000274275	0.000287853	1	1	0
TRPC4	7223	broad.mit.edu	37	13	38320428	38320428	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr13:38320428G>T	ENST00000379705.3	-	3	1400	c.543C>A	c.(541-543)tgC>tgA	p.C181*	TRPC4_ENST00000447043.1_Nonsense_Mutation_p.C181*|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.C181*|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.C181*|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379673.2_Nonsense_Mutation_p.C181*|TRPC4_ENST00000426868.2_Nonsense_Mutation_p.C181*|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.C181*|TRPC4_ENST00000379679.1_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	181					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AACTGGACACGCATTCCACAC	0.507000													34	13					9.17885e-22	1.27351e-21	1	1	0
CDON	50937	broad.mit.edu	37	11	125887193	125887193	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:125887193T>A	ENST00000392693.3	-	6	845	c.718A>T	c.(718-720)Acc>Tcc	p.T240S	CDON_ENST00000263577.7_Missense_Mutation_p.T240S	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	240	Ig-like C2-type 3.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CACTCCAAGGTTACAGGGCTA	0.502000													22	20					0	0	1	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374211	95374211	+	RNA	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:95374211C>T	ENST00000494840.1	-	0	1650					NR_077228.1																						TTCATGCACCCCACGTATGTG	0.418000													15	25					0	0	1	0	0
ABCB7	22	broad.mit.edu	37	X	74289143	74289143	+	Silent	SNP	T	T	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:74289143T>A	ENST00000253577.3	-	11	1539	c.1515A>T	c.(1513-1515)gtA>gtT	p.V505V	ABCB7_ENST00000373394.3_Silent_p.V504V|ABCB7_ENST00000339447.4_Silent_p.V464V|ABCB7_ENST00000534570.1_5'UTR	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	504	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						CACTACCTCCTACAATGGCCA	0.378000													41	10					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152792750	152792750	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:152792750C>G	ENST00000367255.5	-	16	2215	c.1614G>C	c.(1612-1614)caG>caC	p.Q538H	SYNE1_ENST00000341594.5_Missense_Mutation_p.Q545H|SYNE1_ENST00000495090.2_Missense_Mutation_p.Q105H|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q538H|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q538H|SYNE1_ENST00000466159.2_Missense_Mutation_p.Q538H|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q538H|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q528H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q545H|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q545H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	538					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTGTAGAAGCTGCTCCACTG	0.433000										HNSCC(10;0.0054)			48	81					0	0	1	0	0
CEACAM8	1088	broad.mit.edu	37	19	43093044	43093044	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:43093044G>A	ENST00000244336.5	-	4	951	c.850C>T	c.(850-852)Ctc>Ttc	p.L284F	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Intron	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	284	Ig-like C2-type 2.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				GGGATAAAGAGCTTTTGTGTG	0.507000													28	14					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92570929	92570929	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:92570929A>G	ENST00000298047.6	+	16	10342	c.10325A>G	c.(10324-10326)aAc>aGc	p.N3442S	FAT3_ENST00000525166.1_Missense_Mutation_p.N3292S|FAT3_ENST00000409404.2_Missense_Mutation_p.N3442S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3442	Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGAATGACAACAGCCCGGTG	0.468000										TCGA Ovarian(4;0.039)			14	17					0	0	1	0	0
NPS	594857	broad.mit.edu	37	10	129347783	129347783	+	Silent	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:129347783G>T	ENST00000398023.1	+	2	59	c.39G>T	c.(37-39)ctG>ctT	p.L13L		NM_001030013.1	NP_001025184.1	P0C0P6	NPS_HUMAN	neuropeptide S	13					neuropeptide signaling pathway	extracellular region				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						TCCTAGTTCTGTCGCTGTCCA	0.368000													13	20					7.93312e-07	8.79614e-07	1	1	0
TESPA1	9840	broad.mit.edu	37	12	55367305	55367305	+	Splice_Site	SNP	T	T	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:55367305T>C	ENST00000449076.1	-	3	296		c.e3-2		TESPA1_ENST00000316577.8_Splice_Site|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000532804.1_5'UTR|TESPA1_ENST00000524622.1_5'UTR|TESPA1_ENST00000531122.1_Splice_Site	NM_001136030.2	NP_001129502.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1																		TTGGATTCCCTAGAAAAGTCA	0.438000													29	40					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38781085	38781085	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:38781085C>G	ENST00000449082.2	-	14	2200	c.2201G>C	c.(2200-2202)tGc>tCc	p.C734S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	734					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GACGATGATGCAGTCAAAGAT	0.448000													20	6					0	0	1	0	0
ANKRD10	55608	broad.mit.edu	37	13	111567112	111567112	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr13:111567112T>C	ENST00000375758.5	-	1	304	c.170A>G	c.(169-171)tAt>tGt	p.Y57C	ANKRD10_ENST00000267339.2_Missense_Mutation_p.Y57C|ANKRD10_ENST00000310847.4_Missense_Mutation_p.Y57C			Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	57										central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			CGTCCAGCCATAGAAGGAGTC	0.677000													3	5					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156723752	156723752	+	Silent	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:156723752C>A	ENST00000347377.6	+	5	788	c.357C>A	c.(355-357)gtC>gtA	p.V119V	CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000521420.1_Silent_p.V93V|CYFIP2_ENST00000377576.3_Silent_p.V119V|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Silent_p.V119V|CYFIP2_ENST00000541131.1_Silent_p.V44V	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	119					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGCCGGAGGTCACCAAGCTCA	0.522000													30	23					2.85442e-18	3.80111e-18	1	1	0
OR52E2	119678	broad.mit.edu	37	11	5080618	5080618	+	Silent	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:5080618G>T	ENST00000321522.2	-	1	239	c.240C>A	c.(238-240)atC>atA	p.I80I		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCATCTTAGGGATGGTAGCTG	0.478000													5	21					1.23904e-05	1.34844e-05	1	1	0
NOTCH3	4854	broad.mit.edu	37	19	15290995	15290995	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:15290995C>A	ENST00000263388.2	-	20	3290	c.3215G>T	c.(3214-3216)tGc>tTc	p.C1072F		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1072	EGF-like 27.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCCCTCTGGGCACACGCAGTA	0.652000													24	55					1.9806e-07	2.22398e-07	1	1	0
CD83	9308	broad.mit.edu	37	6	14133945	14133945	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:14133945G>T	ENST00000379153.3	+	4	619	c.448G>T	c.(448-450)Gct>Tct	p.A150S		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	150					defense response|humoral immune response|signal transduction	integral to plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				CCTGCTGCTGGCTCTGGTTAT	0.378000													16	9					6.72482e-11	8.11881e-11	1	1	0
NSUN5	55695	broad.mit.edu	37	7	72717963	72717963	+	Silent	SNP	T	T	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:72717963T>A	ENST00000428206.1	-	8	904	c.891A>T	c.(889-891)gcA>gcT	p.A297A	NSUN5_ENST00000310326.8_Silent_p.A335A|NSUN5_ENST00000252594.6_Silent_p.A335A|NSUN5_ENST00000438747.2_Silent_p.A335A	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	335							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				GCTGGAACCCTGCCAGGGCAT	0.622000													23	37					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94754646	94754646	+	Silent	SNP	T	T	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr14:94754646T>A	ENST00000554723.1	-	3	1507	c.1089A>T	c.(1087-1089)acA>acT	p.T363T	SERPINA10_ENST00000554173.1_Silent_p.T323T|SERPINA10_ENST00000393096.1_Silent_p.T323T|SERPINA10_ENST00000261994.4_Silent_p.T323T			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	323					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TTCTGAGCCATGTCTCCACCA	0.493000													33	17					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945745	16945745	+	RNA	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:16945745C>A	ENST00000412962.1	-	0	1774																											GACATGCAGCCCTGGAAAAGG	0.587000													4	56					0.00909568	0.0093606	1	1	0
FFAR2	2867	broad.mit.edu	37	19	35940898	35940898	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:35940898C>A	ENST00000599180.1	+	2	362	c.282C>A	c.(280-282)taC>taA	p.Y94*	FFAR2_ENST00000246549.2_Nonsense_Mutation_p.Y94*|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	94						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCAGCATCTACTGCAGCACGT	0.607000													15	19					6.72482e-11	8.11881e-11	1	1	0
GRM3	2913	broad.mit.edu	37	7	86415998	86415998	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:86415998G>C	ENST00000361669.2	+	3	1989	c.890G>C	c.(889-891)tGg>tCg	p.W297S	GRM3_ENST00000439827.1_Missense_Mutation_p.W297S|GRM3_ENST00000394720.2_Missense_Mutation_p.W295S|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.W169S	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	297					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TCCTTCACCTGGGTGGCCAGC	0.682000													27	35					0	0	1	0	0
SNAP47	116841	broad.mit.edu	37	1	227923150	227923150	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:227923150G>C	ENST00000366759.4	+	1	454	c.40G>C	c.(40-42)Gag>Cag	p.E14Q	SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_Missense_Mutation_p.E14Q	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	14						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CGCAGGCGCCGAGCGGCCGAG	0.746000													14	0					0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138643014	138643014	+	Splice_Site	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:138643014G>T	ENST00000218099.2	+	7	845	c.838_splice	c.e7+1	p.G280_splice	F9_ENST00000394090.2_Splice_Site_p.G242_splice	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	280	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	AGTTGTCGCAGGTAAATACAC	0.343000													32	9					1.61788e-16	2.11722e-16	1	1	0
ZNF607	84775	broad.mit.edu	37	19	38189043	38189043	+	Silent	SNP	A	A	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:38189043A>G	ENST00000355202.4	-	5	2584	c.1989T>C	c.(1987-1989)caT>caC	p.H663H	ZNF607_ENST00000395835.3_Silent_p.H662H|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	663					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GAACTCTATGATGTATACTAA	0.363000													37	49					0	0	1	0	0
AKAP7	9465	broad.mit.edu	37	6	131520611	131520611	+	Silent	SNP	T	T	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:131520611T>C	ENST00000431975.2	+	6	698	c.600T>C	c.(598-600)aaT>aaC	p.N200N	AKAP7_ENST00000541650.1_Silent_p.N199N|AKAP7_ENST00000368123.4_Silent_p.N178N	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	0					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		AGACTGCAAATAGGACATTTC	0.348000													25	35					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144918863	144918863	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:144918863A>T	ENST00000529945.1	-	6	2251	c.1812T>A	c.(1810-1812)caT>caA	p.H604Q	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.H441Q|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.H441Q|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.H441Q|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.H578Q|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.H578Q|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.H441Q|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.H507Q|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.H228Q|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.H604Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	441					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GACTCAGACTATGGTTTAGGT	0.388000			T	PDGFRB	MPD								121	366					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156500967	156500967	+	Silent	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:156500967C>A	ENST00000361170.2	-	33	4186	c.4176G>T	c.(4174-4176)tcG>tcT	p.S1392S		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1392					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCTGGAAGCCGAGAGGGACA	0.582000													78	18					8.41775e-28	1.20254e-27	1	1	0
SEC24A	10802	broad.mit.edu	37	5	134032863	134032863	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:134032863G>T	ENST00000398844.2	+	14	2322	c.2034G>T	c.(2032-2034)ttG>ttT	p.L678F		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	678					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATTAGCCTTGGACTGTTCTG	0.323000													46	55					7.62842e-08	8.60226e-08	1	1	0
COL24A1	255631	broad.mit.edu	37	1	86200453	86200453	+	Silent	SNP	T	T	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:86200453T>C	ENST00000370571.2	-	59	5343	c.4977A>G	c.(4975-4977)aaA>aaG	p.K1659K	COL24A1_ENST00000436319.1_Silent_p.K1638K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1659	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTGAAAGCACTTTAGGTTCAA	0.358000													42	67					0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60503779	60503779	+	Splice_Site	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:60503779C>T	ENST00000371201.3	-	6	855	c.747_splice	c.e6-1	p.V250_splice	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	250							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCATAATTCACCTGAAAATTA	0.333000													9	19					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113168502	113168502	+	Silent	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr9:113168502C>T	ENST00000401783.2	-	38	9714	c.9378G>A	c.(9376-9378)ccG>ccA	p.P3126P	SVEP1_ENST00000297826.5_Silent_p.P1052P|SVEP1_ENST00000374469.1_Silent_p.P3103P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3126	Sushi 29.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGGCGACAGACGGTGGGGACC	0.527000													118	27					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51893046	51893046	+	Silent	SNP	C	C	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:51893046C>G	ENST00000371117.3	-	30	3743	c.3468G>C	c.(3466-3468)tcG>tcC	p.S1156S	PKHD1_ENST00000340994.4_Silent_p.S1156S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1156	IPT/TIG 6; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGCCCCAAGCCGACTGTGTGT	0.572000													55	23					0	0	1	0	0
ZIC3	7547	broad.mit.edu	37	X	136649543	136649543	+	Silent	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:136649543G>T	ENST00000287538.5	+	1	1243	c.693G>T	c.(691-693)gcG>gcT	p.A231A	ZIC3_ENST00000370606.3_Silent_p.A231A	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	231					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					TGAACGTGGCGGCCCACCACG	0.647000													16	9					3.45872e-05	3.74871e-05	1	1	0
SNRNP48	154007	broad.mit.edu	37	6	7609064	7609064	+	Silent	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:7609064G>A	ENST00000342415.5	+	9	1037	c.978G>A	c.(976-978)ggG>ggA	p.G326G		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	326	Arg-rich.				mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TCAGGGATGGGGAAAGACACC	0.279000													6	1					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99460071	99460071	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr15:99460071G>C	ENST00000268035.6	+	10	2778	c.2167G>C	c.(2167-2169)Gag>Cag	p.E723Q	IGF1R_ENST00000558762.1_Missense_Mutation_p.E723Q	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	723					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CAAAGTCTTTGAGAATTTCCT	0.542000													10	26					0	0	1	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140730296	140730296	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:140730296G>A	ENST00000523390.1	+	1	469	c.469G>A	c.(469-471)Gca>Aca	p.A157T	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCAAGATGCAGATGTGGA	0.423000													127	141					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38357115	38357115	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr13:38357115T>C	ENST00000379705.3	-	2	1213	c.356A>G	c.(355-357)aAa>aGa	p.K119R	TRPC4_ENST00000447043.1_Missense_Mutation_p.K119R|TRPC4_ENST00000358477.2_Missense_Mutation_p.K119R|TRPC4_ENST00000355779.2_Missense_Mutation_p.K119R|TRPC4_ENST00000338947.5_Missense_Mutation_p.K119R|TRPC4_ENST00000379673.2_Missense_Mutation_p.K119R|TRPC4_ENST00000426868.2_Missense_Mutation_p.K119R|TRPC4_ENST00000379681.3_Missense_Mutation_p.K119R|TRPC4_ENST00000379679.1_Missense_Mutation_p.K119R			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	119	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ACTAGGTTTTTTGTGGTTCAA	0.323000													26	8					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197053484	197053484	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:197053484C>A	ENST00000367409.4	-	28	10660	c.10404G>T	c.(10402-10404)atG>atT	p.M3468I	ASPM_ENST00000294732.7_Missense_Mutation_p.M1883I|ASPM_ENST00000367408.1_Missense_Mutation_p.M1133I	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3468					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TATCCATCACCATTTGAATAG	0.328000													14	24					1.67942e-08	1.9019e-08	1	1	0
OGFR	11054	broad.mit.edu	37	20	61438939	61438939	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr20:61438939G>T	ENST00000290291.6	+	2	247	c.222G>T	c.(220-222)agG>agT	p.R74S	OGFR_ENST00000370461.1_5'UTR|OGFR_ENST00000370468.3_Missense_Mutation_p.R74S	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	74				DAGDEDEESEEPRAARPSSFQSRMTGSRNWRATRDMCRYRH NYP -> GARRALGVLGQPGGLQMRLPERHGGPQGSLCLMD PCCPLSLALQ (in Ref. 5).	regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					ACATGTGTAGGTATCGGCACA	0.582000													4	7					0.0215528	0.0220947	1	1	0
TTN	7273	broad.mit.edu	37	2	179549638	179549638	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:179549638G>T	ENST00000589042.1	-	130	32773	c.32549C>A	c.(32548-32550)cCt>cAt	p.P10850H	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P9606H|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P10533H|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10533	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATACCTTTAGGTGGGGGCAC	0.313000													6	7					3.59834e-05	3.86056e-05	1	1	0
CDK5RAP2	55755	broad.mit.edu	37	9	123215784	123215784	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr9:123215784C>T	ENST00000349780.4	-	21	2922	c.2743G>A	c.(2743-2745)Gtg>Atg	p.V915M	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.V883M|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.V915M|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.V915M	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	915					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CACCCAGGCACCCCGTGCAGG	0.483000													48	73					0	0	1	0	0
FFAR4	338557	broad.mit.edu	37	10	95326494	95326494	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:95326494C>T	ENST00000371483.4	+	1	73	c.17C>T	c.(16-18)gCg>gTg	p.A6V	FFAR4_ENST00000604414.1_Missense_Mutation_p.A6V|FFAR4_ENST00000371481.4_Missense_Mutation_p.A6V	NM_181745.3	NP_859529.2			free fatty acid receptor 4																		CCTGAATGCGCGCGGGCAGCG	0.697000													5	15					0	0	1	0	0
P2RX2	22953	broad.mit.edu	37	12	133196319	133196319	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:133196319C>G	ENST00000389110.3	+	3	401	c.364C>G	c.(364-366)Cag>Gag	p.Q122E	P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000350048.5_Intron|P2RX2_ENST00000348800.5_Missense_Mutation_p.Q122E|P2RX2_ENST00000343948.4_Missense_Mutation_p.Q122E	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	122					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CTCCCAGACCCAGGGAACCTG	0.736000													10	12					0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5696066	5696066	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:5696066C>T	ENST00000310917.2	-	3	937	c.206G>A	c.(205-207)cGc>cAc	p.R69H	EVC2_ENST00000344408.5_Missense_Mutation_p.R149H|EVC2_ENST00000344938.1_Missense_Mutation_p.R149H	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	149						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						ACTTACCAGGCGGTGTGTTAT	0.393000													20	31					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20495374	20495374	+	RNA	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr15:20495374C>A	ENST00000555186.1	+	0	577					NR_038836.1																						AGGATGAAGACATGAAGAGAA	0.418000													10	59					1.58986e-06	1.74819e-06	1	1	0
HLX	3142	broad.mit.edu	37	1	221053233	221053233	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:221053233T>A	ENST00000366903.6	+	1	1535	c.34T>A	c.(34-36)Tcc>Acc	p.S12T	HLA-AS1_ENST00000552026.1_RNA	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	12					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CTTCTACGCCTCCAACTTCAG	0.721000													16	0					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77377127	77377127	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr9:77377127C>A	ENST00000451710.3	-	26	4697	c.4460G>T	c.(4459-4461)aGt>aTt	p.S1487I	TRPM6_ENST00000449912.2_Missense_Mutation_p.S1482I|TRPM6_ENST00000376864.4_Missense_Mutation_p.S1487I|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.S1482I|TRPM6_ENST00000360774.1_Missense_Mutation_p.S1487I			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1487					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTGCTGTTCACTCCGAGAGGA	0.502000													76	12					4.98926e-31	7.24468e-31	1	1	0
ROS1	6098	broad.mit.edu	37	6	117710681	117710681	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:117710681C>A	ENST00000368508.3	-	12	1789	c.1591G>T	c.(1591-1593)Gga>Tga	p.G531*	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Nonsense_Mutation_p.G540*	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	531					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGGTCACATCCCACGATGAAT	0.458000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								20	39					3.51602e-12	4.36414e-12	1	1	0
PRB4	5545	broad.mit.edu	37	12	11461215	11461215	+	Silent	SNP	G	G	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:11461215G>C	ENST00000279575.1	-	3	735	c.702C>G	c.(700-702)ggC>ggG	p.G234G	PRB4_ENST00000445719.2_Silent_p.G165G|PRB4_ENST00000535904.1_Silent_p.G234G	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	297	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TGGGTGGCCTGCCCCCTTGAG	0.577000										HNSCC(22;0.051)			63	328					0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15547905	15547905	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:15547905G>A	ENST00000389282.4	-	4	2521	c.2308C>T	c.(2308-2310)Cgc>Tgc	p.R770C	WIZ_ENST00000595214.2_5'UTR|WIZ_ENST00000263381.6_Missense_Mutation_p.R81C			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	770						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						AAGTCACAGCGCATCAGGCTG	0.657000													10	12					0	0	1	0	0
LPIN2	9663	broad.mit.edu	37	18	2938026	2938026	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr18:2938026T>A	ENST00000261596.4	-	7	1070	c.832A>T	c.(832-834)Aga>Tga	p.R278*		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	278					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GATCGTTCTCTTTTGCTGACC	0.338000													29	43					0	0	1	0	0
HSPA13	6782	broad.mit.edu	37	21	15753648	15753648	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr21:15753648C>A	ENST00000285667.3	-	2	309	c.242G>T	c.(241-243)gGa>gTa	p.G81V	HSPA13_ENST00000544452.1_5'UTR|HSPA13_ENST00000478035.1_5'UTR	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	81						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GCTTTCATATCCCACATATAC	0.398000													38	8					3.93418e-24	5.53081e-24	1	1	0
PDE10A	10846	broad.mit.edu	37	6	165792847	165792847	+	Silent	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:165792847C>T	ENST00000366882.1	-	19	1945	c.1791G>A	c.(1789-1791)ggG>ggA	p.G597G	PDE10A_ENST00000539869.2_Silent_p.G607G|PDE10A_ENST00000354448.4_Silent_p.G597G			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	597					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AGATATTGTGCCCTTCCAACT	0.378000													19	43					0	0	1	0	0
KLHL34	257240	broad.mit.edu	37	X	21675294	21675294	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:21675294G>C	ENST00000379499.2	-	1	1154	c.613C>G	c.(613-615)Cgg>Ggg	p.R205G		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	205	BACK.									cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GGCTCCTGCCGCAACCAAGCT	0.672000													13	1					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139909127	139909127	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:139909127C>G	ENST00000297183.6	+	29	6720	c.6596C>G	c.(6595-6597)tCt>tGt	p.S2199C	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S2199C|ANKHD1_ENST00000360839.2_Missense_Mutation_p.S2199C|ANKHD1_ENST00000544120.1_Missense_Mutation_p.S582C	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAATAAGTCTTTGCCACCT	0.478000													60	72					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29296561	29296561	+	Silent	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:29296561G>T	ENST00000331664.5	-	1	566	c.567C>A	c.(565-567)acC>acA	p.T189T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	189					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AGTGTAGATAGGTGTAAGCCT	0.562000													33	52					2.85442e-18	3.80111e-18	1	1	0
OR10G7	390265	broad.mit.edu	37	11	123908971	123908971	+	Silent	SNP	C	C	A	rs142080661		TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:123908971C>A	ENST00000330487.5	-	1	746	c.738G>T	c.(736-738)gtG>gtT	p.V246V		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCAAAGGACCACGATACAGT	0.567000													28	41					2.44723e-14	3.11039e-14	1	1	0
ATP8B3	148229	broad.mit.edu	37	19	1800001	1800001	+	Silent	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:1800001C>A	ENST00000539485.1	-	14	1730	c.1497G>T	c.(1495-1497)acG>acT	p.T499T	ATP8B3_ENST00000526092.1_Silent_p.T446T|ATP8B3_ENST00000310127.6_Silent_p.T499T|ATP8B3_ENST00000525591.1_Silent_p.T452T			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	499					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGCGTGAGCGTGCCCGTCT	0.612000													3	3					6.4e-05	6.79909e-05	1	1	0
ARHGAP9	64333	broad.mit.edu	37	12	57870384	57870384	+	Silent	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:57870384C>T	ENST00000393797.2	-	10	1419	c.1227G>A	c.(1225-1227)ggG>ggA	p.G409G	ARHGAP9_ENST00000356411.2_Silent_p.G338G|ARHGAP9_ENST00000550288.1_Silent_p.G417G|ARHGAP9_ENST00000424809.2_Silent_p.G338G|ARHGAP9_ENST00000430041.2_Silent_p.G154G|ARHGAP9_ENST00000393791.3_Silent_p.G338G|ARHGAP9_ENST00000550454.1_5'UTR			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	338	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TGAGCTTGCGCCCCCCTTGGG	0.562000													42	75					0	0	1	0	0
OR14K1	343170	broad.mit.edu	37	1	247902855	247902855	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:247902855A>T	ENST00000283225.2	+	1	939	c.939A>T	c.(937-939)aaA>aaT	p.K313N	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						gggtaatgaaaagatgactaa	0.373000													13	33					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136593166	136593166	+	Silent	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:136593166C>T	ENST00000531224.1	-	8	2262	c.2010G>A	c.(2008-2010)ggG>ggA	p.G670G	BCLAF1_ENST00000527536.1_Silent_p.G670G|BCLAF1_ENST00000392348.2_Silent_p.G668G|BCLAF1_ENST00000353331.4_Silent_p.G668G|BCLAF1_ENST00000530767.1_Silent_p.G497G|BCLAF1_ENST00000527759.1_Silent_p.G668G	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	670					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTCTCTCTTCCCCTGCTAAAC	0.289000													6	65					0	0	1	0	0
OR3A3	8392	broad.mit.edu	37	17	3324532	3324532	+	Missense_Mutation	SNP	G	G	T	rs143627345	by1000genomes	TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:3324532G>T	ENST00000291231.1	+	1	671	c.671G>T	c.(670-672)aGt>aTt	p.S224I		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						GTCTTCATCAGTGTGTCCTAT	0.567000													33	14					3.80469e-20	5.21056e-20	1	1	0
TMF1	7110	broad.mit.edu	37	3	69073259	69073259	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:69073259C>T	ENST00000543976.1	-	16	3340	c.3094G>A	c.(3094-3096)Gat>Aat	p.D1032N	TMF1_ENST00000398559.2_Missense_Mutation_p.D1029N|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	1029					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	p.D1029N(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TCAAGTTCATCATTTTGATTT	0.323000													17	9					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25351737	25351737	+	RNA	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr15:25351737G>T	ENST00000546682.1	+	0	3911				SNORD116-29_ENST00000384516.1_RNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						AGACACTTCTGTGAGCTGAGG	0.463000													69	28					9.98788e-38	1.46231e-37	1	1	0
NCOR2	9612	broad.mit.edu	37	12	124846798	124846798	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:124846798T>A	ENST00000356219.3	-	23	3126	c.2971A>T	c.(2971-2973)Acc>Tcc	p.T991S	NCOR2_ENST00000429285.2_Missense_Mutation_p.T974S|NCOR2_ENST00000405201.1_Missense_Mutation_p.T992S|NCOR2_ENST00000404621.1_Missense_Mutation_p.T974S|NCOR2_ENST00000404121.2_Missense_Mutation_p.T545S|NCOR2_ENST00000397355.1_Missense_Mutation_p.T975S	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	992					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCTGGCTTGGTGGGAGCTGCG	0.667000													9	6					0	0	1	0	0
ACSL6	23305	broad.mit.edu	37	5	131302194	131302194	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:131302194C>T	ENST00000379264.2	-	17	1736	c.1628G>A	c.(1627-1629)gGc>gAc	p.G543D	ACSL6_ENST00000379255.1_Missense_Mutation_p.G443D|ACSL6_ENST00000357096.1_Missense_Mutation_p.G443D|ACSL6_ENST00000543479.1_Missense_Mutation_p.G518D|ACSL6_ENST00000379272.2_Missense_Mutation_p.G533D|ACSL6_ENST00000431707.1_Missense_Mutation_p.G498D|ACSL6_ENST00000379244.1_Missense_Mutation_p.G518D|ACSL6_ENST00000379249.3_Missense_Mutation_p.G518D|ACSL6_ENST00000379240.1_Missense_Mutation_p.G518D|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000379246.1_Missense_Mutation_p.G529D|ACSL6_ENST00000544770.1_Missense_Mutation_p.G427D|ACSL6_ENST00000296869.4_Missense_Mutation_p.G543D	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	518					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTCAAGTAGCCTTTGAACAC	0.502000													29	65					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117710680	117710680	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:117710680C>A	ENST00000368508.3	-	12	1790	c.1592G>T	c.(1591-1593)gGa>gTa	p.G531V	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.G540V	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	531					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CAGGTCACATCCCACGATGAA	0.458000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								20	37					3.51602e-12	4.36414e-12	1	1	0
UNC5C	8633	broad.mit.edu	37	4	96166251	96166251	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:96166251T>C	ENST00000453304.1	-	6	1168	c.820A>G	c.(820-822)Agc>Ggc	p.S274G	UNC5C_ENST00000506749.1_Missense_Mutation_p.S274G	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	274	TSP type-1 1.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CCACAGCGGCTGTTACACACA	0.517000													29	32					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21783484	21783484	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:21783484A>G	ENST00000382254.1	-	11	2462	c.1376T>C	c.(1375-1377)aTa>aCa	p.I459T	CDH12_ENST00000522262.1_Missense_Mutation_p.I419T|CDH12_ENST00000504376.2_Missense_Mutation_p.I459T|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	459	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ACTCGCAATTATGGAGAAATT	0.383000										HNSCC(59;0.17)			21	45					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126237812	126237812	+	Silent	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:126237812C>T	ENST00000394329.3	+	1	259	c.246C>T	c.(244-246)gcC>gcT	p.A82A		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	82	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCCTGTTTGCCATAAACAGTA	0.622000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	38					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114279247	114279247	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:114279247C>A	ENST00000357077.4	+	38	9526	c.9473C>A	c.(9472-9474)cCg>cAg	p.P3158Q	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P3125Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3125					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GATCCCCTACCGCTGGAGACA	0.458000													20	32					5.03518e-11	6.10674e-11	1	1	0
CLSTN2	64084	broad.mit.edu	37	3	140178481	140178481	+	Silent	SNP	C	C	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:140178481C>G	ENST00000458420.3	+	7	1282	c.1092C>G	c.(1090-1092)gcC>gcG	p.A364A	RP11-68L1.2_ENST00000503357.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	364					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGCAGGGTGCCAAAGTCCCCG	0.577000										HNSCC(16;0.037)			12	14					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110478835	110478835	+	Silent	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr8:110478835C>T	ENST00000378402.5	+	50	8546	c.8442C>T	c.(8440-8442)caC>caT	p.H2814H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2814					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)			TCATTCCACACAGCTCATTGC	0.408000										HNSCC(38;0.096)			7	8					0	0	1	0	0
MS4A10	341116	broad.mit.edu	37	11	60557908	60557908	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:60557908C>A	ENST00000308287.1	+	2	196	c.100C>A	c.(100-102)Cag>Aag	p.Q34K		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	34						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						AAGTGCACCCCAGAACACGAC	0.587000													32	56					3.1745e-13	4.00591e-13	1	1	0
PRAMEF10	343071	broad.mit.edu	37	1	12952809	12952809	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:12952809C>A	ENST00000235347.4	-	4	1442	c.1363G>T	c.(1363-1365)Gtc>Ttc	p.V455F		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	455										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCAAGGGACGGGACCAAAG	0.537000													28	5					2.48779e-11	3.03809e-11	1	1	0
PCSK1	5122	broad.mit.edu	37	5	95743993	95743993	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:95743993G>A	ENST00000311106.3	-	9	1367	c.1130C>T	c.(1129-1131)aCg>aTg	p.T377M	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.T330M|PCSK1_ENST00000513085.1_5'UTR	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	377	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCCTGTGTGCGTCTCCGTGCA	0.577000													12	12					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539327	55539327	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr8:55539327G>A	ENST00000220676.1	+	4	3033	c.2885G>A	c.(2884-2886)gGa>gAa	p.G962E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	962					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACAAATTCTGGAAAAATAAGT	0.313000													20	30					0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64873613	64873613	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:64873613C>T	ENST00000533854.1	+	2	400	c.163C>T	c.(163-165)Cac>Tac	p.H55Y	CACNG5_ENST00000169565.3_Missense_Mutation_p.H55Y|CACNG5_ENST00000307139.3_Missense_Mutation_p.H55Y			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	55					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GATGTCCCTGCACTCAGGCCT	0.637000													40	33					0	0	1	0	0
ANXA6	309	broad.mit.edu	37	5	150503912	150503912	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:150503912C>T	ENST00000354546.5	-	15	1300	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H	ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000523714.1_Missense_Mutation_p.R326H|ANXA6_ENST00000521512.1_Missense_Mutation_p.R151H|ANXA6_ENST00000356496.5_Missense_Mutation_p.R358H	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	358						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTGGCTGGGCGCACAGTTCC	0.597000													9	3					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31263416	31263416	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr18:31263416G>A	ENST00000269197.5	+	8	763	c.763G>A	c.(763-765)Gga>Aga	p.G255R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGAAACCCCAGGATCTATTCT	0.418000													10	5					0	0	1	0	0
C5orf22	55322	broad.mit.edu	37	5	31552888	31552888	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:31552888T>A	ENST00000355907.3	+	10	1533	c.371T>A	c.(370-372)cTg>cAg	p.L124Q	C5orf22_ENST00000325366.9_Missense_Mutation_p.L403Q|C5orf22_ENST00000504866.1_3'UTR			Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	403										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						AGGTCAAGTCTGGATGATTAC	0.383000													15	21					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186010236	186010236	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:186010236A>C	ENST00000271588.4	+	40	6501	c.6272A>C	c.(6271-6273)gAa>gCa	p.E2091A	HMCN1_ENST00000367492.2_Missense_Mutation_p.E2091A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2091	Ig-like C2-type 18.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCTGCTGGAGAAAAGCAAAGG	0.438000													24	45					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248367188	248367188	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:248367188G>T	ENST00000456743.1	+	1	857	c.819G>T	c.(817-819)atG>atT	p.M273I		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGGACAAGATGGTGTCTGTAT	0.493000													193	22					1.11282e-78	1.67555e-78	1	1	0
MOGAT2	80168	broad.mit.edu	37	11	75438505	75438505	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:75438505C>T	ENST00000526712.1	+	2	823	c.50C>T	c.(49-51)cCc>cTc	p.P17L	MOGAT2_ENST00000198801.5_Missense_Mutation_p.P99L			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	99					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GAGCTGGACCCCTCTCGGAAC	0.617000													16	36					0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121187935	121187935	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:121187935G>T	ENST00000321339.1	+	1	286	c.277G>T	c.(277-279)Gtg>Ttg	p.V93L		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	93	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TGCGTCCTACGTGTACTTGTC	0.622000													14	38					0.0242445	0.0248062	1	1	0
UNK	85451	broad.mit.edu	37	17	73815859	73815859	+	Silent	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:73815859C>T	ENST00000293218.3	+	13	1869	c.1869C>T	c.(1867-1869)atC>atT	p.I623I	UNK_ENST00000589666.1_Silent_p.I547I|RP11-552F3.4_ENST00000586808.1_RNA			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	547							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGGAAGCATCACCATCGGTA	0.627000													21	48					0	0	1	0	0
OXCT1	5019	broad.mit.edu	37	5	41853618	41853618	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:41853618T>A	ENST00000196371.5	-	4	477	c.317A>T	c.(316-318)aAg>aTg	p.K106M		NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	106					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TTTTATCTGCTTGGACCGAAG	0.418000													26	21					0	0	1	0	0
GOLGA2P9	440518	broad.mit.edu	37	19	22779143	22779143	+	RNA	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:22779143G>A	ENST00000600260.1	+	0	85					NR_033899.1																						GAGCTGATGTGGCCCCAACCC	0.587000													3	3					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324044	152324044	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:152324044T>C	ENST00000388718.5	-	3	6290	c.6218A>G	c.(6217-6219)cAt>cGt	p.H2073R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2073							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCTGTCCATGAGTAGTTCC	0.532000													233	370					0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194080603	194080603	+	Silent	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:194080603G>T	ENST00000347624.3	-	2	1255	c.1170C>A	c.(1168-1170)ggC>ggA	p.G390G	LRRC15_ENST00000428839.1_Silent_p.G396G|LRRC15_ENST00000439944.2_Silent_p.G396G	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	390						integral to membrane		p.G390G(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TGGCCATGAGGCCATTGACGT	0.562000													5	8					0.248553	0.249022	1	1	0
AFF3	3899	broad.mit.edu	37	2	100209870	100209870	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:100209870G>C	ENST00000317233.4	-	14	2488	c.2253C>G	c.(2251-2253)aaC>aaG	p.N751K	AFF3_ENST00000356421.2_Missense_Mutation_p.N776K|AFF3_ENST00000409236.1_Missense_Mutation_p.N751K|AFF3_ENST00000409579.1_Missense_Mutation_p.N776K	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	751					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGAGAAGTTCGTTCCGGCCAA	0.582000													21	44					0	0	1	0	0
FOXR2	139628	broad.mit.edu	37	X	55650163	55650163	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:55650163G>T	ENST00000339140.3	+	1	331	c.19G>T	c.(19-21)Gac>Tac	p.D7Y		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	7					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AAAACTAAAAGACTGTGAATT	0.458000													21	7					1.85244e-09	2.16254e-09	1	1	0
CNGA3	1261	broad.mit.edu	37	2	99013556	99013556	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:99013556G>C	ENST00000393504.1	+	8	2340	c.1923G>C	c.(1921-1923)caG>caC	p.Q641H	CNGA3_ENST00000409937.1_Missense_Mutation_p.Q645H|CNGA3_ENST00000436404.2_Missense_Mutation_p.Q623H|CNGA3_ENST00000272602.2_Missense_Mutation_p.Q641H	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	641					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						ACACCCTGCAGACCAGGTTTG	0.612000													8	28					0	0	1	0	0
EFNB2	1948	broad.mit.edu	37	13	107145598	107145598	+	Silent	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr13:107145598C>T	ENST00000245323.4	-	5	941	c.792G>A	c.(790-792)acG>acA	p.T264T		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	264					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					ACAGCGTGGTCGTGTGCTGCG	0.572000													22	20					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26849703	26849703	+	Silent	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:26849703G>A	ENST00000376236.4	+	13	1754	c.1299G>A	c.(1297-1299)aaG>aaA	p.K433K		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	433					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CTGTGGCAAAGGCTGGACTTG	0.493000													14	25					0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135378956	135378956	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:135378956C>G	ENST00000354042.4	-	10	1736	c.1047G>C	c.(1045-1047)aaG>aaC	p.K349N		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	349						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						TGGTCTTCTTCTTCTTGCTCA	0.403000													31	46					0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100253085	100253085	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:100253085C>A	ENST00000160382.5	-	3	333	c.227G>T	c.(226-228)cGg>cTg	p.R76L		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	76	Essential for mediating its function in dendritic development; may contribute to neuronal-specific targeting (By similarity).				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CGCTCCATCCCGAGGCACGTG	0.627000													6	65					3.59834e-05	3.86056e-05	1	1	0
ARL14EP	120534	broad.mit.edu	37	11	30354491	30354491	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:30354491A>T	ENST00000282032.3	+	3	720	c.505A>T	c.(505-507)Aaa>Taa	p.K169*		NM_152316.1	NP_689529.1			ADP-ribosylation factor-like 14 effector protein																		AGAAACTGGTAAAAGAGAAAA	0.388000													15	24					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47248859	47248859	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr20:47248859G>T	ENST00000396220.1	-	34	4608	c.4586C>A	c.(4585-4587)aCg>aAg	p.T1529K	PREX1_ENST00000371941.3_Missense_Mutation_p.N1494K			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	0					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGGACTGCGCGTTGATGTCCT	0.637000													72	130					2.34191e-24	3.30109e-24	1	1	0
PCNXL4	64430	broad.mit.edu	37	14	60592508	60592508	+	Silent	SNP	A	A	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr14:60592508A>T	ENST00000406854.1	+	10	3788	c.3234A>T	c.(3232-3234)ccA>ccT	p.P1078P	PCNXL4_ENST00000406949.1_Silent_p.P844P|PCNXL4_ENST00000535349.1_Silent_p.P285P|PCNXL4_ENST00000404681.2_Silent_p.P1078P|PCNXL4_ENST00000317623.4_Silent_p.P844P					pecanex-like 4 (Drosophila)																		AAGAAAAGCCATACTTGTTTT	0.299000													12	7					0	0	1	0	0
LSAMP	4045	broad.mit.edu	37	3	115805400	115805400	+	Silent	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:115805400G>A	ENST00000490035.1	-	2	658	c.159C>T	c.(157-159)tgC>tgT	p.C53C	LSAMP_ENST00000539563.1_Silent_p.C50C	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	53	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CTTCTACAACGCACCTGACAG	0.448000													8	24					0	0	1	0	0
TMEM168	64418	broad.mit.edu	37	7	112423756	112423756	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:112423756C>A	ENST00000312814.5	-	2	1685	c.1125G>T	c.(1123-1125)tgG>tgT	p.W375C	TMEM168_ENST00000454074.1_Missense_Mutation_p.W375C	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	375						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						AGCTTACCTGCCAGGAAACTG	0.398000													29	67					2.61193e-14	3.31178e-14	1	1	0
ATP9A	10079	broad.mit.edu	37	20	50346510	50346510	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr20:50346510C>A	ENST00000338821.5	-	2	340	c.76G>T	c.(76-78)Gag>Tag	p.E26*	ATP9A_ENST00000402822.1_Nonsense_Mutation_p.E26*|ATP9A_ENST00000311637.5_Nonsense_Mutation_p.E11*|ATP9A_ENST00000477492.1_5'UTR	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	26					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTCAGCCACTCGCAGCACCTG	0.602000													37	66					2.32173e-10	2.7777e-10	1	1	0
CTNNA2	1496	broad.mit.edu	37	2	80801322	80801322	+	Silent	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:80801322C>A	ENST00000466387.1	+	17	2500	c.1776C>A	c.(1774-1776)gcC>gcA	p.A592A	CTNNA2_ENST00000402739.4_Silent_p.A592A|CTNNA2_ENST00000361291.4_Silent_p.A626A|CTNNA2_ENST00000540488.1_Silent_p.A592A|CTNNA2_ENST00000343114.3_Silent_p.A271A|CTNNA2_ENST00000496558.1_Silent_p.A592A|CTNNA2_ENST00000541047.1_Silent_p.A592A			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	592					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TAGAGGTTGCCATTGAAGCCC	0.478000													37	48					3.33393e-15	4.29923e-15	1	1	0
ARSG	22901	broad.mit.edu	37	17	66366632	66366632	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:66366632G>T	ENST00000448504.2	+	8	1745	c.949G>T	c.(949-951)Ggt>Tgt	p.G317C	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Missense_Mutation_p.G153C	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	317					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGGCAGTGTGGGTCCCTTCAC	0.552000													18	20					1.10923e-09	1.30353e-09	1	1	0
FBRS	64319	broad.mit.edu	37	16	30680224	30680224	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr16:30680224G>A	ENST00000356166.6	+	17	3378	c.2290G>A	c.(2290-2292)Gcc>Acc	p.A764T	FBRS_ENST00000568722.1_Missense_Mutation_p.A156T|FBRS_ENST00000395073.2_Missense_Mutation_p.A156T|FBRS_ENST00000287468.5_Missense_Mutation_p.A244T			Q9HAH7	FBRS_HUMAN	fibrosin	244										ovary(1)	1			Colorectal(24;0.103)			CCCTGAGGCCGCCCGGACTCC	0.716000													4	3					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114275822	114275822	+	Silent	SNP	A	A	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:114275822A>G	ENST00000357077.4	+	38	6101	c.6048A>G	c.(6046-6048)gcA>gcG	p.A2016A	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.A1983A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1983					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACAAATCAGCAAAACAAAAGC	0.443000													45	61					0	0	1	0	0
BANF2	140836	broad.mit.edu	37	20	17705720	17705720	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr20:17705720G>T	ENST00000246090.5	+	3	312	c.50G>T	c.(49-51)gGa>gTa	p.G17V	BANF2_ENST00000377805.3_Missense_Mutation_p.G17V|BANF2_ENST00000545418.2_Missense_Mutation_p.G24V	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN	barrier to autointegration factor 2	17						cytoplasm|nucleus	DNA binding			large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						GAACCCATTGGAGAAAAGGAT	0.488000													19	49					8.34094e-07	9.22901e-07	1	1	0
NCAPD3	23310	broad.mit.edu	37	11	134055241	134055241	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:134055241C>A	ENST00000534548.2	-	17	2290	c.2226G>T	c.(2224-2226)gaG>gaT	p.E742D	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	742					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TGCTGATTTTCTCCCAAGATT	0.448000													6	9					3.59834e-05	3.86056e-05	1	1	0
DDR1	780	broad.mit.edu	37	6	30861116	30861116	+	Silent	SNP	C	C	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:30861116C>G	ENST00000324771.8	+	12	1811	c.1263C>G	c.(1261-1263)ggC>ggG	p.G421G	DDR1_ENST00000376569.3_Silent_p.G421G|DDR1_ENST00000376567.2_Silent_p.G421G|DDR1_ENST00000452441.1_Silent_p.G421G|DDR1_ENST00000418800.2_Silent_p.G421G|DDR1_ENST00000376575.3_Silent_p.G421G|DDR1_ENST00000454612.2_Silent_p.G421G|DDR1_ENST00000376568.3_Silent_p.G421G|DDR1_ENST00000513240.1_Silent_p.G421G|DDR1_ENST00000376570.4_Silent_p.G421G|DDR1_ENST00000508312.1_Silent_p.G439G|DDR1_ENST00000361741.4_Silent_p.G152G|DDR1_ENST00000446312.1_3'UTR			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	421					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TCCTCATCGGCTGCCTGGTGG	0.682000													9	6					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141108534	141108534	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:141108534A>C	ENST00000389484.3	-	77	12695	c.11724T>G	c.(11722-11724)agT>agG	p.S3908R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3908					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GATGATCGCCACTGTAGTTGA	0.308000										TSP Lung(27;0.18)			19	58					0	0	1	0	0
LIPJ	142910	broad.mit.edu	37	10	90366488	90366488	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:90366488G>T	ENST00000371939.3	+	11	1239	c.925G>T	c.(925-927)Ggt>Tgt	p.G309C		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	309					lipid catabolic process		hydrolase activity			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		AATTTGGAATGGTAAAAGTGA	0.313000													12	24					2.80697e-09	3.24825e-09	1	1	0
MKRN3	7681	broad.mit.edu	37	15	23812141	23812141	+	Silent	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr15:23812141G>A	ENST00000314520.3	+	1	1688	c.1212G>A	c.(1210-1212)gcG>gcA	p.A404A	MKRN3_ENST00000568945.1_Intron|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	404						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGTATTTTGCGGAAGGCAGGG	0.522000													39	95					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158510920	158510920	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:158510920A>T	ENST00000355585.4	+	25	3581	c.3506A>T	c.(3505-3507)aAa>aTa	p.K1169I	SYNJ2_ENST00000367122.2_Missense_Mutation_p.K1124I|SYNJ2_ENST00000367112.1_Missense_Mutation_p.K254I|SYNJ2_ENST00000367121.3_Missense_Mutation_p.K1169I	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1169							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AAGCAGATCAAAACCACCAAT	0.522000													4	1					0	0	1	0	0
KAT2A	2648	broad.mit.edu	37	17	40269097	40269097	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:40269097T>C	ENST00000225916.5	-	11	1773	c.1720A>G	c.(1720-1722)Acg>Gcg	p.T574A		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	574	N-acetyltransferase.				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ACAATCTCCGTGAAGCCCTGG	0.617000											OREG0024419	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	44					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716736	13716736	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:13716736A>G	ENST00000279593.3	-	13	3645	c.3436T>C	c.(3436-3438)Tgg>Cgg	p.W1146R		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1146					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACGTGCTCCCAGTGGGGTGAG	0.587000													30	88					0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1544453	1544453	+	Silent	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr16:1544453C>T	ENST00000262319.6	+	2	450	c.171C>T	c.(169-171)gcC>gcT	p.A57A		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	57						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TTGCCTCGGCCCACTTCTCGC	0.647000											OREG0023547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	58	120					0	0	1	0	0
HDAC7	51564	broad.mit.edu	37	12	48185409	48185409	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:48185409G>T	ENST00000080059.7	-	15	1892	c.1893C>A	c.(1891-1893)aaC>aaA	p.N631K	HDAC7_ENST00000427332.2_Missense_Mutation_p.N592K|HDAC7_ENST00000488927.1_5'UTR|HDAC7_ENST00000354334.3_Missense_Mutation_p.N594K|HDAC7_ENST00000380610.4_Missense_Mutation_p.N648K|HDAC7_ENST00000552960.1_Missense_Mutation_p.N614K	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	592	Histone deacetylase.				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		GGCTGAGCGGGTTGGTGCCGT	0.627000													8	9					0.0477658	0.0486843	1	1	0
MYSM1	114803	broad.mit.edu	37	1	59165708	59165708	+	Missense_Mutation	SNP	G	G	A	rs12402204		TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:59165708G>A	ENST00000472487.1	-	1	56	c.17C>T	c.(16-18)gCg>gTg	p.A6V		NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	6					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					ATCCACATCCGCCTCTTCAGC	0.682000													18	20					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34066577	34066577	+	Silent	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:34066577G>T	ENST00000373381.4	-	44	6920	c.6744C>A	c.(6742-6744)ggC>ggA	p.G2248G	CSMD2_ENST00000373377.1_Silent_p.G347G|CSMD2_ENST00000373388.2_Silent_p.G347G|CSMD2_ENST00000489419.1_5'UTR|CSMD2_ENST00000373380.1_Silent_p.G1121G	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2250	CUB 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGGTGAAGACGCCGAGCCGTG	0.582000													49	18					7.34454e-26	1.0408e-25	1	1	0
FNDC1	84624	broad.mit.edu	37	6	159654497	159654497	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:159654497C>T	ENST00000297267.9	+	11	3153	c.2953C>T	c.(2953-2955)Cgg>Tgg	p.R985W	FNDC1_ENST00000340366.6_Missense_Mutation_p.R922W	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	985						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCCGCAGCACGGTCACAGCA	0.677000													12	7					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212047	26212047	+	Silent	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:26212047C>T	ENST00000379034.1	+	2	233	c.84C>T	c.(82-84)ccC>ccT	p.P28P		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	28										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TCACGGGTCCCCAGGCCACTG	0.572000													29	11					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38574590	38574590	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:38574590C>A	ENST00000356264.2	-	2	306	c.91G>T	c.(91-93)Gct>Tct	p.A31S	AMPH_ENST00000428293.2_Missense_Mutation_p.A31S|AMPH_ENST00000325590.5_Missense_Mutation_p.A31S	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	31	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GTCTCATCAGCTTTCCCCAGC	0.348000													13	18					0.00185496	0.00193149	1	1	0
RYR3	6263	broad.mit.edu	37	15	33926903	33926903	+	Silent	SNP	G	G	A	rs2291733		TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr15:33926903G>A	ENST00000389232.4	+	25	3214	c.3144G>A	c.(3142-3144)ggG>ggA	p.G1048G	RYR3_ENST00000415757.3_Silent_p.G1048G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1048	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGGTTACGGGTATAACATTG	0.483000													66	47					0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112144045	112144045	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr9:112144045C>T	ENST00000412145.1	-	20	4711	c.2158G>A	c.(2158-2160)Gtg>Atg	p.V720M	PTPN3_ENST00000394827.3_Missense_Mutation_p.V319M|PTPN3_ENST00000262539.3_Missense_Mutation_p.V697M|PTPN3_ENST00000374541.2_Missense_Mutation_p.V851M|PTPN3_ENST00000446349.1_Missense_Mutation_p.V675M	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	851	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GTGACCAACACACCGGTTCGA	0.537000													32	46					0	0	1	0	0
OR5A2	219981	broad.mit.edu	37	11	59190059	59190059	+	Missense_Mutation	SNP	C	C	A	rs151222077	by1000genomes	TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:59190059C>A	ENST00000302040.4	-	1	390	c.368G>T	c.(367-369)cGg>cTg	p.R123L		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TGCAGCATACCGGTCATAGGC	0.483000													16	26					4.7546e-09	5.46625e-09	1	1	0
KRT31	3881	broad.mit.edu	37	17	39551868	39551868	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:39551868T>C	ENST00000251645.2	-	4	648	c.596A>G	c.(595-597)aAt>aGt	p.N199S		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	199	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GCGCAGGGTATTGACCTCCTA	0.483000													18	23					0	0	1	0	0
GUCA1C	9626	broad.mit.edu	37	3	108635029	108635029	+	Silent	SNP	C	C	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:108635029C>G	ENST00000261047.3	-	3	519	c.387G>C	c.(385-387)ctG>ctC	p.L129L	GUCA1C_ENST00000471108.1_Silent_p.L129L|GUCA1C_ENST00000393963.3_Silent_p.L129L	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	129					signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						CTTCAGGACTCAGAGTTTGCT	0.398000													24	44					0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	730159	730159	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr9:730159C>T	ENST00000382303.1	+	8	3459	c.2807C>T	c.(2806-2808)cCa>cTa	p.P936L	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.P778L|KANK1_ENST00000382297.2_Missense_Mutation_p.P936L	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	936					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GAAGGAAAGCCAATCAGCAGC	0.547000													27	4					0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75805305	75805305	+	Silent	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:75805305C>T	ENST00000370855.5	-	4	176	c.63G>A	c.(61-63)agG>agA	p.R21R	SLC44A5_ENST00000370859.3_Silent_p.R21R|SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000535611.1_5'UTR	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	21						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GGTCATATGTCCTTGGATCAC	0.328000													143	211					0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56621330	56621330	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:56621330A>C	ENST00000321691.3	-	1	399	c.218T>G	c.(217-219)cTc>cGc	p.L73R	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	73										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCTGACTGGAGGGAGACAGA	0.567000													55	40					0	0	1	0	0
ILVBL	10994	broad.mit.edu	37	19	15234374	15234374	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:15234374C>A	ENST00000263383.3	-	3	288	c.149G>T	c.(148-150)aGc>aTc	p.S50I	ILVBL_ENST00000531635.1_5'UTR|ILVBL_ENST00000534378.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	50						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						ATGCCGGACGCTTGCCTTGTC	0.632000													19	33					5.35267e-07	5.9599e-07	1	1	0
SCN8A	6334	broad.mit.edu	37	12	52159508	52159508	+	Silent	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:52159508G>A	ENST00000354534.5	+	16	2776	c.2598G>A	c.(2596-2598)aaG>aaA	p.K866K	SCN8A_ENST00000545061.1_Silent_p.K866K|SCN8A_ENST00000550891.1_Silent_p.K866K	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	866					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TGCTAATCAAGATTATTGGAA	0.428000													18	20					0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201195238	201195238	+	Silent	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:201195238C>A	ENST00000335211.4	+	22	10903	c.10773C>A	c.(10771-10773)atC>atA	p.I3591I	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCTGGTGCATCCCCCGGCAGC	0.667000													33	7					3.90053e-15	4.99343e-15	1	1	0
TLR6	10333	broad.mit.edu	37	4	38829447	38829447	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:38829447C>A	ENST00000436693.2	-	2	1767	c.1648G>T	c.(1648-1650)Gaa>Taa	p.E550*	TLR6_ENST00000381950.1_Nonsense_Mutation_p.E550*	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	550	LRRCT.				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTAACACTTCACTTGATACT	0.413000													113	183					2.66069e-56	3.9948e-56	1	1	0
PLXNA1	5361	broad.mit.edu	37	3	126751566	126751566	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:126751566G>T	ENST00000251772.4	+	30	5482	c.5413G>T	c.(5413-5415)Gac>Tac	p.D1805Y	PLXNA1_ENST00000393409.2_Missense_Mutation_p.D1828Y|PLXNA1_ENST00000505278.1_3'UTR			Q9UIW2	PLXA1_HUMAN	plexin A1	1828					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGCCATCAGCGACCAGGACAT	0.612000													26	33					4.87955e-14	6.17223e-14	1	1	0
NCAM1	4684	broad.mit.edu	37	11	113103871	113103871	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:113103871A>G	ENST00000316851.7	+	12	1495	c.1495A>G	c.(1495-1497)Acc>Gcc	p.T499A	NCAM1_ENST00000533760.1_Missense_Mutation_p.T381A|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.T508A	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	509	Ig-like C2-type 5.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CCCCACAGACACCCCCTCTTC	0.547000													15	11					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118513088	118513088	+	Silent	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:118513088C>T	ENST00000361417.2	+	14	3264	c.2853C>T	c.(2851-2853)ccC>ccT	p.P951P	PHLDB1_ENST00000524713.1_Silent_p.P94P|PHLDB1_ENST00000534672.1_Intron|PHLDB1_ENST00000527898.1_Intron|PHLDB1_ENST00000356063.5_Intron	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	951								p.P951P(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CGCCTCTGCCCGCCAAAGCTT	0.637000													25	34					0	0	1	0	0
CALCB	797	broad.mit.edu	37	11	15098970	15098970	+	Silent	SNP	C	C	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:15098970C>G	ENST00000523376.1	+	9	1658	c.396C>G	c.(394-396)cgC>cgG	p.R132R	CALCB_ENST00000324229.6_Silent_p.R121R|CALCB_ENST00000533448.1_Silent_p.R121R			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	121					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						TTGGCAGGCGCCGCAGGGACC	0.547000													9	15					0	0	1	0	0
TRAF3IP2	10758	broad.mit.edu	37	6	111912698	111912698	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:111912698C>T	ENST00000368761.5	-	2	1070	c.592G>A	c.(592-594)Gga>Aga	p.G198R	TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.G207R|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.G198R	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	207					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		GAATCATATCCCGTGTCTATG	0.622000													34	80					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165946938	165946938	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:165946938G>T	ENST00000360093.3	-	28	6216	c.5725C>A	c.(5725-5727)Cgt>Agt	p.R1909S	SCN3A_ENST00000283254.7_Missense_Mutation_p.R1909S|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000540861.1_Missense_Mutation_p.R392S|SCN3A_ENST00000409101.3_Missense_Mutation_p.R1860S	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1909	IQ.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CTGAAATTACGCTGAATGATA	0.358000													14	20					1.5842e-08	1.79791e-08	1	1	0
RNF220	55182	broad.mit.edu	37	1	45110420	45110420	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:45110420G>A	ENST00000355387.2	+	9	1627	c.1177G>A	c.(1177-1179)Gac>Aac	p.D393N	RNF220_ENST00000361799.2_Missense_Mutation_p.D393N|RNF220_ENST00000480686.1_3'UTR|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron|RNF220_ENST00000443020.2_Missense_Mutation_p.D180N|TMEM53_ENST00000372242.3_Intron|RNF220_ENST00000372247.2_Missense_Mutation_p.D393N			Q5VTB9	RN220_HUMAN	ring finger protein 220	393					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CAGTGATGCTGACTTGGATGT	0.592000													26	42					0	0	1	0	0
KLRG2	346689	broad.mit.edu	37	7	139168171	139168171	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:139168171G>C	ENST00000340940.4	-	1	287	c.218C>G	c.(217-219)cCt>cGt	p.P73R	KLRG2_ENST00000393039.2_Missense_Mutation_p.P73R	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	73	Pro-rich.					integral to membrane	sugar binding			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					CCCGGGGCGAGGCGAAGGCGG	0.731000													13	12					0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97987324	97987324	+	Splice_Site	SNP	T	T	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:97987324T>G	ENST00000224337.5	-	5	346		c.e5-2		BLNK_ENST00000413476.2_Splice_Site|BLNK_ENST00000427367.2_Splice_Site|BLNK_ENST00000371176.2_Splice_Site	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker						B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GTCGCTGTCCTGCAAGTGCAG	0.582000													41	72					0	0	1	0	0
RAMP2	10266	broad.mit.edu	37	17	40914628	40914628	+	Silent	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:40914628C>T	ENST00000589683.1	+	4	427	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L	RAMP2_ENST00000588576.1_Silent_p.P59P|RAMP2_ENST00000587142.1_Silent_p.L101L|RAMP2_ENST00000253796.5_Silent_p.L96L			O60895	RAMP2_HUMAN	receptor (G protein-coupled) activity modifying protein 2	96					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	coated pit|integral to plasma membrane|lysosome	protein transporter activity			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	TTATAGCACCCTGCGAGATTG	0.552000													35	38					0	0	1	0	0
P2RX6	9127	broad.mit.edu	37	22	21372348	21372348	+	Splice_Site	SNP	A	A	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr22:21372348A>T	ENST00000413302.2	+	3	534	c.387_splice	c.e3+1	p.E129_splice	P2RX6_ENST00000401443.1_Splice_Site_p.E103_splice|P2RX6_ENST00000443995.3_Splice_Site_p.E76_splice|P2RX6_ENST00000402329.3_Intron|P2RX6_ENST00000336296.2_Splice_Site_p.E119_splice			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	129					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										AGATGCCCAGAGGTGAGTTTA	0.602000													8	13					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123274986	123274986	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:123274986A>T	ENST00000264501.4	+	82	14492	c.14119A>T	c.(14119-14121)Aca>Tca	p.T4707S	KIAA1109_ENST00000388738.3_Missense_Mutation_p.T4707S			Q2LD37	K1109_HUMAN	KIAA1109	4707					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGATCATTCTACATATATTGT	0.323000													21	13					0	0	1	0	0
CELF2	10659	broad.mit.edu	37	10	11356225	11356225	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:11356225C>A	ENST00000417956.2	+	10	1047	c.1007C>A	c.(1006-1008)aCc>aAc	p.T336N	CELF2_ENST00000450189.1_Intron|CELF2_ENST00000416382.2_Intron|CELF2_ENST00000379261.4_Intron|CELF2_ENST00000315874.3_Intron|CELF2_ENST00000354897.3_Missense_Mutation_p.T336N|CELF2_ENST00000354440.2_Intron|CELF2_ENST00000542579.1_Intron|CELF2_ENST00000427450.1_Intron|CELF2_ENST00000399850.3_Intron|CELF2_ENST00000537122.1_Intron			O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	359	Ala-rich.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CTAGCAGGTACCATCAACAGT	0.507000													23	44					1.22574e-08	1.39708e-08	1	1	0
ALB	213	broad.mit.edu	37	4	74280805	74280805	+	Missense_Mutation	SNP	T	T	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:74280805T>G	ENST00000295897.4	+	9	1201	c.1112T>G	c.(1111-1113)cTg>cGg	p.L371R	ALB_ENST00000415165.2_Missense_Mutation_p.L179R|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.L256R|ALB_ENST00000503124.1_Missense_Mutation_p.L221R|ALB_ENST00000509063.1_Missense_Mutation_p.L371R	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	371	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GTGCTGCTGCTGAGACTTGCC	0.398000													29	52					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124289536	124289536	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:124289536A>G	ENST00000409039.3	+	17	2607	c.2582A>G	c.(2581-2583)tAc>tGc	p.Y861C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	861	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCCTCCTACTACAAATACTGG	0.468000													32	41					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49598332	49598332	+	RNA	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:49598332C>A	ENST00000527477.1	+	0	936																											CATCATGGATCTGAGTGACAA	0.473000													14	25					2.61681e-11	3.1883e-11	1	1	0
TRPC3	7222	broad.mit.edu	37	4	122825631	122825631	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:122825631C>G	ENST00000264811.5	-	7	2298	c.1880G>C	c.(1879-1881)gGg>gCg	p.G627A	TRPC3_ENST00000379645.3_Missense_Mutation_p.G700A|TRPC3_ENST00000513531.1_Missense_Mutation_p.G572A	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	615					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTCAGACAACCCAAATATTGA	0.303000													7	9					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32541632	32541632	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr9:32541632T>A	ENST00000360538.2	-	3	3007	c.2891A>T	c.(2890-2892)aAg>aTg	p.K964M	TOPORS_ENST00000379858.1_Missense_Mutation_p.K899M	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	964					DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ATCACATTCCTTGTCCAGCAC	0.388000													65	32					0	0	1	0	0
GPR171	29909	broad.mit.edu	37	3	150916479	150916479	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:150916479T>C	ENST00000309180.5	-	3	925	c.695A>G	c.(694-696)tAc>tGc	p.Y232C	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	232						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCATATGATGTAGCCCGTGGT	0.398000													37	45					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028613	37028613	+	Silent	SNP	G	G	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:37028613G>C	ENST00000358047.3	+	1	2182	c.2130G>C	c.(2128-2130)cgG>cgC	p.R710R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	710										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCAAGACTCGGGTGTCCAGTC	0.637000													56	9					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136477	40136477	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:40136477T>A	ENST00000278198.2	-	2	3329	c.1366A>T	c.(1366-1368)Acc>Tcc	p.T456S	LRRC4C_ENST00000530763.1_Missense_Mutation_p.T456S|LRRC4C_ENST00000528697.1_Missense_Mutation_p.T456S|LRRC4C_ENST00000527150.1_Missense_Mutation_p.T456S			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	456					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ACTGTGACGGTTGAAAAGTAA	0.488000													34	59					0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47501491	47501491	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:47501491A>G	ENST00000371901.3	+	5	756	c.506A>G	c.(505-507)aAg>aGg	p.K169R	CYP4X1_ENST00000538609.1_Missense_Mutation_p.K168R	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	169						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						AAGTGGGAGAAGATTTGCAGC	0.483000													22	48					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121957973	121957973	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:121957973C>A	ENST00000379692.4	-	4	1679	c.1153G>T	c.(1153-1155)Gtc>Ttc	p.V385F		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	385										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TGGATTTGGACAGCATCCAGA	0.408000													46	70					4.44401e-20	6.07043e-20	1	1	0
SALL4	57167	broad.mit.edu	37	20	50407493	50407493	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr20:50407493C>A	ENST00000217086.4	-	2	1640	c.1529G>T	c.(1528-1530)gGg>gTg	p.G510V	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	510					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGAGAAGGCCCAGGCTGCAG	0.592000													39	78					3.54909e-21	4.91127e-21	1	1	0
OR8J1	219477	broad.mit.edu	37	11	56128008	56128008	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:56128008G>T	ENST00000303039.3	+	1	318	c.286G>T	c.(286-288)Gaa>Taa	p.E96*		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E96*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					CTCATTCTATGAATGTGCCAC	0.418000													40	86					4.92203e-23	6.88304e-23	1	1	0
LRP2	4036	broad.mit.edu	37	2	170030530	170030530	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:170030530C>T	ENST00000263816.3	-	56	11198	c.10913G>A	c.(10912-10914)gGc>gAc	p.G3638D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3638	LDL-receptor class A 29.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCGAAACTGGCCCGGCCGGCA	0.547000													25	33					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898234	175898234	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:175898234T>A	ENST00000359240.3	+	5	2228	c.1558T>A	c.(1558-1560)Tgc>Agc	p.C520S	ADAM29_ENST00000445694.1_Missense_Mutation_p.C520S|ADAM29_ENST00000514159.1_Missense_Mutation_p.C520S|ADAM29_ENST00000404450.4_Missense_Mutation_p.C520S	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	520	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAGTGAGACTTGCTACAAAGA	0.433000													37	41					0	0	1	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6080705	6080705	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:6080705T>A	ENST00000199389.6	-	9	1083	c.937A>T	c.(937-939)Ata>Tta	p.I313L	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.I189L|EIF2AK1_ENST00000495565.1_5'UTR	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	313	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GATTCTCTTATGACTAAATTG	0.458000													70	105					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25947134	25947134	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr15:25947134C>A	ENST00000356865.6	-	13	2800	c.2689G>T	c.(2689-2691)Gtc>Ttc	p.V897F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	897					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCAATGTTGACAGCTGTTTCT	0.532000													36	85					2.75727e-19	3.7567e-19	1	1	0
OR10G9	219870	broad.mit.edu	37	11	123893799	123893799	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:123893799G>C	ENST00000375024.1	+	1	80	c.80G>C	c.(79-81)gGa>gCa	p.G27A		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCACTCTTTGGAATCTTCCTG	0.572000													53	124					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47282727	47282727	+	Silent	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:47282727C>T	ENST00000271153.4	+	9	1114	c.1078C>T	c.(1078-1080)Ctg>Ttg	p.L360L	CYP4B1_ENST00000371919.4_Silent_p.L346L|CYP4B1_ENST00000452782.2_Silent_p.L198L|CYP4B1_ENST00000371923.4_Silent_p.L361L			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	360					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CAGGGATGATCTGGGCAAAAT	0.547000													72	93					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32241081	32241081	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr22:32241081C>T	ENST00000400246.1	+	30	3021	c.2879C>T	c.(2878-2880)aCg>aTg	p.T960M	DEPDC5_ENST00000382105.2_Missense_Mutation_p.T882M|DEPDC5_ENST00000382111.2_Missense_Mutation_p.T960M|DEPDC5_ENST00000382112.3_Missense_Mutation_p.T951M|DEPDC5_ENST00000266091.3_Missense_Mutation_p.T960M|DEPDC5_ENST00000535622.1_Missense_Mutation_p.T882M|DEPDC5_ENST00000400248.1_Missense_Mutation_p.T951M|DEPDC5_ENST00000400249.2_Missense_Mutation_p.T951M			O75140	DEPD5_HUMAN	DEP domain containing 5	951					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AAGCGCATCACGGAGGGGGAG	0.602000													27	51					0	0	1	0	0
MFSD7	84179	broad.mit.edu	37	4	680330	680330	+	Silent	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:680330G>A	ENST00000322224.4	-	2	598	c.285C>T	c.(283-285)ctC>ctT	p.L95L	MFSD7_ENST00000347950.5_Silent_p.L73L|MFSD7_ENST00000404286.2_Silent_p.L95L|MFSD7_ENST00000503156.1_Silent_p.L31L|MFSD7_ENST00000515118.1_Silent_p.L95L|MFSD7_ENST00000513740.1_5'UTR			Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	95					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CCGCCGCACGGAGCCCGACGG	0.657000													49	51					0	0	1	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100147576	100147576	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:100147576G>T	ENST00000231461.5	-	5	1365	c.1055C>A	c.(1054-1056)aCa>aAa	p.T352K		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	352					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		CTTTCCTGTTGTCAGTTTTAG	0.338000													5	20					0.184627	0.185678	1	1	0
RGS12	6002	broad.mit.edu	37	4	3419261	3419261	+	Silent	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:3419261C>T	ENST00000336727.3	+	9	3658	c.2754C>T	c.(2752-2754)caC>caT	p.H918H	RGS12_ENST00000538395.1_Silent_p.H260H|RGS12_ENST00000306648.7_Silent_p.H316H|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000382788.3_Silent_p.H918H|RGS12_ENST00000344733.5_Silent_p.H918H|RGS12_ENST00000338806.4_Silent_p.H270H	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	918						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACGGGGACCACGCAGACGGTT	0.667000													19	29					0	0	1	0	0
CCDC6	8030	broad.mit.edu	37	10	61566690	61566690	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:61566690C>A	ENST00000263102.6	-	6	1225	c.994G>T	c.(994-996)Gac>Tac	p.D332Y		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	332						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CTTTCGTCGTCCATTTCTAAG	0.453000			T	RET	NSCLC								27	30					5.77227e-19	7.80435e-19	1	1	0
PCDHGB1	56104	broad.mit.edu	37	5	140731764	140731764	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:140731764G>A	ENST00000523390.1	+	1	1937	c.1937G>A	c.(1936-1938)gGa>gAa	p.G646E	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGATGGAGGACAGCCGCCA	0.682000													36	45					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100390887	100390887	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:100390887G>C	ENST00000281806.2	-	4	839	c.525C>G	c.(523-525)atC>atG	p.I175M	MCHR2_ENST00000369212.1_Missense_Mutation_p.I175M|MCHR2_ENST00000445970.1_Missense_Mutation_p.I175M	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	175						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTTTAAATTTGATGACCTTCG	0.433000													32	107					0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69095162	69095162	+	Silent	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:69095162G>T	ENST00000332644.5	-	8	920	c.759C>A	c.(757-759)gtC>gtA	p.V253V		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	253	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TAATGTTTTGGACTTTCCGTG	0.333000													12	19					4.3838e-07	4.90172e-07	1	1	0
C1QTNF3	114899	broad.mit.edu	37	5	34035786	34035786	+	Silent	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:34035786G>T	ENST00000382065.3	-	2	1087	c.381C>A	c.(379-381)ggC>ggA	p.G127G	C1QTNF3_ENST00000231338.7_Silent_p.G54G	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	54	C1q.					collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					GCCCAGGGGGGCCTTGGTAGC	0.522000													11	34					3.45872e-05	3.74871e-05	1	1	0
JMJD4	65094	broad.mit.edu	37	1	227922491	227922491	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:227922491A>C	ENST00000366758.3	-	2	426	c.427T>G	c.(427-429)Tgt>Ggt	p.C143G	SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000438896.2_Missense_Mutation_p.C143G	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	143										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				TGGACCCCACAGTTTGCAACT	0.537000													33	32					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159572918	159572918	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:159572918C>A	ENST00000307765.5	+	18	2236	c.1985C>A	c.(1984-1986)aCc>aAc	p.T662N	RXFP1_ENST00000343542.5_Missense_Mutation_p.T614N|RXFP1_ENST00000460056.2_Missense_Mutation_p.T581N|RXFP1_ENST00000470033.1_Missense_Mutation_p.T629N|RXFP1_ENST00000448688.2_Missense_Mutation_p.T557N	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	662						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GGTACCATAACCTCTTGGGTA	0.343000													12	35					2.80697e-09	3.24825e-09	1	1	0
UTF1	8433	broad.mit.edu	37	10	135044840	135044840	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:135044840T>C	ENST00000304477.2	+	2	935	c.920T>C	c.(919-921)gTg>gCg	p.V307A		NM_003577.2	NP_003568.2	Q5T230	UTF1_HUMAN	undifferentiated embryonic cell transcription factor 1	307	Leucine-zipper.				male gonad development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein binding|transcription coactivator activity			upper_aerodigestive_tract(1)	1		all_cancers(35;3.05e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		AACCAGCACGTGGAGCAGCTG	0.701000													5	10					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34066553	34066553	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:34066553C>A	ENST00000373381.4	-	44	6944	c.6768G>T	c.(6766-6768)aaG>aaT	p.K2256N	CSMD2_ENST00000373377.1_Missense_Mutation_p.K355N|CSMD2_ENST00000373388.2_Missense_Mutation_p.K355N|CSMD2_ENST00000489419.1_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.K1129N	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2258	CUB 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCACTGTTTTCTTGGCCATGC	0.557000													55	21					2.47907e-22	3.44857e-22	1	1	0
MTMR6	9107	broad.mit.edu	37	13	25825793	25825793	+	Silent	SNP	T	T	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr13:25825793T>C	ENST00000381801.5	-	13	2360	c.1599A>G	c.(1597-1599)ctA>ctG	p.L533L	MTMR6_ENST00000540661.1_Silent_p.L533L	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	533						cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TTACAGATTCTAGGTCTTTAA	0.274000													3	4					0	0	1	0	0
CRTAC1	55118	broad.mit.edu	37	10	99664467	99664467	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:99664467G>A	ENST00000370597.3	-	7	1310	c.955C>T	c.(955-957)Ctc>Ttc	p.L319F	CRTAC1_ENST00000370591.2_Missense_Mutation_p.L319F|CRTAC1_ENST00000298819.4_Missense_Mutation_p.L319F	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	319						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TGCAGATAGAGGCGGTGGGGG	0.597000													39	58					0	0	1	0	0
EEFSEC	60678	broad.mit.edu	37	3	128060317	128060317	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:128060317C>T	ENST00000254730.6	+	5	1082	c.1028C>T	c.(1027-1029)aCa>aTa	p.T343I	EEFSEC_ENST00000483457.1_Missense_Mutation_p.T288I|EEFSEC_ENST00000483569.1_3'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	343						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GGCCATGAAACAGTCATGGGC	0.502000													27	42					0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389165	20389165	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr14:20389165G>T	ENST00000315915.4	+	1	425	c.400G>T	c.(400-402)Gtc>Ttc	p.V134F		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATACTATGTGGTCATCATGAG	0.443000													98	34					1.53041e-28	2.19815e-28	1	1	0
SCG2	7857	broad.mit.edu	37	2	224463478	224463478	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:224463478T>C	ENST00000305409.2	-	2	755	c.523A>G	c.(523-525)Agg>Ggg	p.R175G		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	175					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GGGTTATCCCTGGAATTCTCT	0.423000													51	51					0	0	1	0	0
FGD1	2245	broad.mit.edu	37	X	54475346	54475346	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:54475346G>A	ENST00000375135.3	-	16	3062	c.2329C>T	c.(2329-2331)Cgc>Tgc	p.R777C		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	777					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CGGTTGGAGCGGTTGTTGTCA	0.622000													18	3					0	0	1	0	0
USP38	84640	broad.mit.edu	37	4	144119035	144119035	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:144119035C>A	ENST00000307017.4	+	4	1514	c.1008C>A	c.(1006-1008)caC>caA	p.H336Q	USP38_ENST00000510377.1_Missense_Mutation_p.H336Q	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	336					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					TTCTTTCTCACATGCTGCTTA	0.373000													22	36					2.41591e-17	3.1931e-17	1	1	0
GPR98	84059	broad.mit.edu	37	5	89923209	89923209	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:89923209G>T	ENST00000405460.2	+	7	950	c.854G>T	c.(853-855)cGt>cTt	p.R285L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	285					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCAGTAGTTCGTGGAAAGGAC	0.393000													45	96					5.7616e-29	8.29796e-29	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21654860	21654860	+	Silent	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:21654860G>A	ENST00000328843.6	+	21	4012	c.3981G>A	c.(3979-3981)aaG>aaA	p.K1327K	DNAH11_ENST00000409508.3_Silent_p.K1327K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1327	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AATTGCTCAAGGGACTGTGGG	0.353000									Kartagener syndrome				18	36					0	0	1	0	0
TFAP2D	83741	broad.mit.edu	37	6	50696657	50696657	+	Silent	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:50696657G>A	ENST00000008391.3	+	4	915	c.687G>A	c.(685-687)gtG>gtA	p.V229V	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	229							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AATACAAGGTGACCATTGCTG	0.493000													30	20					0	0	1	0	0
LRP3	4037	broad.mit.edu	37	19	33696503	33696503	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:33696503G>T	ENST00000253193.7	+	5	1029	c.827G>T	c.(826-828)gGg>gTg	p.G276V		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	276	CUB 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GCCGCTCGCGGGCCCTCAGAC	0.701000													7	20					0.00307968	0.00319419	1	1	0
MMP9	4318	broad.mit.edu	37	20	44641955	44641955	+	Silent	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr20:44641955C>A	ENST00000372330.3	+	9	1411	c.1392C>A	c.(1390-1392)ccC>ccA	p.P464P		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	464					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CCACGGCTCCCCCGACGGTCT	0.687000											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	76					1.95508e-11	2.39305e-11	1	1	0
CDKN2AIP	55602	broad.mit.edu	37	4	184366134	184366134	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:184366134G>A	ENST00000504169.1	+	1	391	c.184G>A	c.(184-186)Gac>Aac	p.D62N	CDKN2AIP_ENST00000510928.1_Missense_Mutation_p.D62N|CDKN2AIP_ENST00000302350.4_Missense_Mutation_p.D62N	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	62					negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGAAGCTGCCGACGCCGAGAG	0.667000													19	22					0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194062679	194062679	+	Silent	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:194062679G>A	ENST00000323830.3	-	2	842	c.753C>T	c.(751-753)aaC>aaT	p.N251N	CPN2_ENST00000429275.1_Silent_p.N251N	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	251					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GCGTGATGGCGTTGCGTTGCA	0.602000													19	32					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8819104	8819104	+	Silent	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr18:8819104C>A	ENST00000359865.3	+	13	3145	c.3003C>A	c.(3001-3003)atC>atA	p.I1001I	SOGA2_ENST00000400050.3_Silent_p.I960I|SOGA2_ENST00000517570.1_Silent_p.I960I|SOGA2_ENST00000306329.11_Silent_p.I1320I|SOGA2_ENST00000306285.7_Silent_p.I326I|SOGA2_ENST00000518815.1_Silent_p.I326I	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1311																	CTGACTCCATCCCGTTTGAAG	0.602000													35	47					3.90053e-15	4.99343e-15	1	1	0
PTPRN	5798	broad.mit.edu	37	2	220161532	220161532	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:220161532C>G	ENST00000295718.2	-	16	2489	c.2249G>C	c.(2248-2250)cGc>cCc	p.R750P	PTPRN_ENST00000423636.2_Missense_Mutation_p.R660P|PTPRN_ENST00000409251.3_Missense_Mutation_p.R721P	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	750	Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CAGTTTTATGCGGGCATGGTC	0.617000													11	27					0	0	1	0	0
CLEC4C	170482	broad.mit.edu	37	12	7883448	7883448	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:7883448C>A	ENST00000542353.1	-	6	932	c.442G>T	c.(442-444)Ggg>Tgg	p.G148W	CLEC4C_ENST00000360345.3_Missense_Mutation_p.G148W|CLEC4C_ENST00000354629.5_Missense_Mutation_p.G117W|CLEC4C_ENST00000540085.1_Missense_Mutation_p.G117W	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	148	C-type lectin.				innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		CGCCGACCCCCTGGATCTGAC	0.438000													89	50					9.24773e-40	1.3577e-39	1	1	0
MAST1	22983	broad.mit.edu	37	19	12969605	12969605	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:12969605G>C	ENST00000591495.1	+	13	1423	c.1406G>C	c.(1405-1407)aGg>aCg	p.R469T	MAST1_ENST00000251472.4_Intron			Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	0	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCACTGGTCAGGGCTGCGGGG	0.552000													7	17					0	0	1	0	0
CCDC89	220388	broad.mit.edu	37	11	85396955	85396955	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:85396955C>A	ENST00000316398.3	-	1	365	c.219G>T	c.(217-219)caG>caT	p.Q73H		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	73						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TGAGCTGGGACTGCTCTTCAA	0.587000													20	19					5.35267e-07	5.9599e-07	1	1	0
TAOK2	9344	broad.mit.edu	37	16	29990342	29990342	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr16:29990342G>T	ENST00000308893.4	+	6	1443	c.400G>T	c.(400-402)Ggg>Tgg	p.G134W	TAOK2_ENST00000543033.1_Missense_Mutation_p.G134W|TAOK2_ENST00000279394.3_Missense_Mutation_p.G134W	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	134	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TGTGACCCACGGGGCGCTTCA	0.587000													41	57					5.7616e-29	8.29796e-29	1	1	0
PNPLA4	8228	broad.mit.edu	37	X	7870155	7870155	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:7870155C>A	ENST00000381042.4	-	6	675	c.505G>T	c.(505-507)Gct>Tct	p.A169S	PNPLA4_ENST00000537427.1_Missense_Mutation_p.A82S|PNPLA4_ENST00000444736.1_Missense_Mutation_p.A169S	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	169	Patatin.				lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				ATGGGAAGAGCGTTGGTGAGG	0.537000													22	4					7.41877e-09	8.49233e-09	1	1	0
ZNF721	170960	broad.mit.edu	37	4	435690	435690	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:435690T>A	ENST00000338977.5	-	2	2578	c.2530A>T	c.(2530-2532)Agg>Tgg	p.R844W	ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.R856W					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TGAATTCTCCTATGTACATAA	0.393000													28	45					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138414380	138414380	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:138414380A>T	ENST00000409968.1	+	23	4298	c.4120A>T	c.(4120-4122)Aca>Tca	p.T1374S	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.T1377S|THSD7B_ENST00000413152.2_Missense_Mutation_p.T1346S					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTGCCATTTAACAGAATGGTC	0.468000													14	11					0	0	1	0	0
PGA3	643834	broad.mit.edu	37	11	60971081	60971081	+	Silent	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:60971081C>T	ENST00000325558.6	+	1	230	c.45C>T	c.(43-45)tgC>tgT	p.C15C		NM_001079807.1	NP_001073275.1			pepsinogen 3, group I (pepsinogen A)											endometrium(1)|lung(1)|ovary(1)|skin(2)	5						TCTCTGAGTGCATCATGTACA	0.567000													42	26					0	0	1	0	0
IRX4	50805	broad.mit.edu	37	5	1880913	1880913	+	Silent	SNP	C	C	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:1880913C>G	ENST00000505790.1	-	4	789	c.333G>C	c.(331-333)gcG>gcC	p.A111A	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_Silent_p.A111A|IRX4_ENST00000231357.2_Silent_p.A111A	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	111					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GGCCCCCATGCGCAGATCCCG	0.622000													26	55					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164735803	164735803	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:164735803C>T	ENST00000264382.3	-	29	3537	c.3475G>A	c.(3475-3477)Gag>Aag	p.E1159K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1159	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GCATTGCCCTCCTCTTCCAGA	0.323000										HNSCC(35;0.089)			20	35					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100841606	100841606	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:100841606T>A	ENST00000369208.3	-	11	2109	c.1327A>T	c.(1327-1329)Agc>Tgc	p.S443C	SIM1_ENST00000262901.4_Missense_Mutation_p.S443C			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	443	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CAGAGAGAGCTGCGGTCCGAA	0.622000													51	34					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50690805	50690805	+	Silent	SNP	C	C	A	rs75166536		TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:50690805C>A	ENST00000355832.5	-	10	2175	c.2097G>T	c.(2095-2097)acG>acT	p.T699T	ERCC6_ENST00000542458.1_Silent_p.T69T	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	699					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ACACAGGCAACGTGCCTAACT	0.483000								Direct reversal of damage;Nucleotide excision repair (NER)					37	48					5.43694e-19	7.38866e-19	1	1	0
TMEM189	387521	broad.mit.edu	37	20	48713232	48713232	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr20:48713232C>T	ENST00000557021.1	-	6	977	c.817G>A	c.(817-819)Ggg>Agg	p.G273R	UBE2V1_ENST00000371657.5_Missense_Mutation_p.G50R|UBE2V1_ENST00000371677.3_Missense_Mutation_p.G73R|UBE2V1_ENST00000420027.2_Intron|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.G273R|UBE2V1_ENST00000340309.3_Missense_Mutation_p.G73R|UBE2V1_ENST00000371674.3_Missense_Mutation_p.G50R|UBE2V1_ENST00000415862.2_Intron|UBE2V1_ENST00000396059.3_Intron	NM_199203.2	NP_954673.1			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			ATTATCATCCCTGTCCATCTT	0.433000													63	77					0	0	1	0	0
AQP2	359	broad.mit.edu	37	12	50344932	50344932	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:50344932A>G	ENST00000199280.3	+	1	404	c.319A>G	c.(319-321)Atc>Gtc	p.I107V		NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	107					cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GCTCCATGAGATCACGCCAGC	0.642000													11	25					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5465077	5465077	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:5465077C>T	ENST00000296564.7	+	13	5852	c.5630C>T	c.(5629-5631)cCa>cTa	p.P1877L		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1877										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AACCTCCCTCCAGCTGAAGTT	0.507000													9	26					0	0	1	0	0
HELQ	113510	broad.mit.edu	37	4	84328640	84328640	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:84328640G>A	ENST00000295488.3	-	18	3434	c.3272C>T	c.(3271-3273)cCt>cTt	p.P1091L	HELQ_ENST00000510985.1_Missense_Mutation_p.P1024L	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	1091							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CACAGCACCAGGGAAATCAGA	0.363000								Other identified genes with known or suspected DNA repair function					15	24					0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	123988981	123988981	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:123988981C>G	ENST00000456829.2	+	5	583	c.332C>G	c.(331-333)tCt>tGt	p.S111C	VWA5A_ENST00000360334.4_Missense_Mutation_p.S111C|VWA5A_ENST00000361352.5_Missense_Mutation_p.S111C|VWA5A_ENST00000449321.1_Missense_Mutation_p.S111C|VWA5A_ENST00000392744.4_Missense_Mutation_p.S127C|VWA5A_ENST00000392748.1_Missense_Mutation_p.S111C	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	111	VIT.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GATGTCTTCTCTTGCAATGTG	0.587000													45	45					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241706693	241706693	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:241706693C>A	ENST00000498729.2	-	18	1813	c.1567G>T	c.(1567-1569)Ggg>Tgg	p.G523W	KIF1A_ENST00000320389.7_Missense_Mutation_p.G514W	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	514	FHA.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTGGTGATCCCATCCTTGATG	0.602000													7	12					8.12818e-05	8.58155e-05	1	1	0
IL31RA	133396	broad.mit.edu	37	5	55192206	55192206	+	Silent	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:55192206C>T	ENST00000396834.1	+	9	1240	c.744C>T	c.(742-744)gtC>gtT	p.V248V	IL31RA_ENST00000359040.5_Silent_p.V267V|IL31RA_ENST00000396836.2_Silent_p.V267V|IL31RA_ENST00000447346.2_Silent_p.V267V|IL31RA_ENST00000354961.4_Silent_p.V248V|IL31RA_ENST00000490985.1_Silent_p.V125V|IL31RA_ENST00000297015.3_Silent_p.V125V	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	235	Fibronectin type-III 3.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TGTGGAGAGTCCTGAAACCAG	0.517000													17	50					0	0	1	0	0
HPR	3250	broad.mit.edu	37	16	72108244	72108244	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr16:72108244C>G	ENST00000540303.2	+	3	185	c.153C>G	c.(151-153)taC>taG	p.Y51*	HPR_ENST00000356967.5_Nonsense_Mutation_p.Y51*|HPR_ENST00000228226.8_Nonsense_Mutation_p.Y88*|HPR_ENST00000561690.1_Nonsense_Mutation_p.Y51*	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	51	Sushi.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				TGTTTCGCTACCAGTGTAAGA	0.488000													32	18					0	0	1	0	0
SDAD1P1	157489	broad.mit.edu	37	8	26238681	26238681	+	RNA	SNP	A	A	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr8:26238681A>T	ENST00000519902.1	-	0	1267																											GAAGATCTGGATCCAATACAG	0.373000													14	10					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65428515	65428515	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:65428515G>A	ENST00000330909.8	-	8	1087	c.1088C>T	c.(1087-1089)gCt>gTt	p.A363V	MAGI1_ENST00000402939.2_Missense_Mutation_p.A363V|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Missense_Mutation_p.A363V|MAGI1_ENST00000497477.2_Missense_Mutation_p.A363V	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	363	WW 2.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTCCCAACCAGCAGGCAGTTC	0.378000													34	13					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38863890	38863890	+	Silent	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:38863890G>A	ENST00000359357.3	+	58	8432	c.8178G>A	c.(8176-8178)gcG>gcA	p.A2726A	DNAH8_ENST00000441566.1_Silent_p.A2690A|DNAH8_ENST00000449981.2_Silent_p.A2943A					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTGATGCAGCGTCGTGTATTC	0.403000													31	15					0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52912808	52912808	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:52912808T>A	ENST00000252242.4	-	2	1082	c.692A>T	c.(691-693)gAc>gTc	p.D231V		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	231	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)		CACGATGCTGTCCAGCTGCCT	0.587000													6	217					0	0	1	0	0
DCAF6	55827	broad.mit.edu	37	1	168007626	168007626	+	Silent	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:168007626C>T	ENST00000367840.3	+	13	1721	c.1627C>T	c.(1627-1629)Ctg>Ttg	p.L543L	DCAF6_ENST00000312263.6_Silent_p.L466L|DCAF6_ENST00000432587.2_Silent_p.L512L|DCAF6_ENST00000367843.3_Silent_p.L486L	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	522					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TAATGAAAAGCTGAGCCCCAA	0.323000													20	46					0	0	1	0	0
MRC1	4360	broad.mit.edu	37	10	17949652	17949652	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:17949652C>A	ENST00000331429.2	+	28	4119	c.4016C>A	c.(4015-4017)tCt>tAt	p.S1339Y																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CATGCGTCTTCTGGGTTTTGG	0.413000													46	81					1.07234e-20	1.47621e-20	1	1	0
FARSB	10056	broad.mit.edu	37	2	223464699	223464699	+	Silent	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:223464699G>T	ENST00000281828.6	-	16	1829	c.1566C>A	c.(1564-1566)ctC>ctA	p.L522L	FARSB_ENST00000536361.1_Silent_p.L423L	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	522					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GAGGCACATCGAGCAACTGCA	0.453000													42	64					8.16904e-11	9.83998e-11	1	1	0
MUC16	94025	broad.mit.edu	37	19	9002556	9002556	+	Silent	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:9002556G>A	ENST00000397910.4	-	51	40463	c.40260C>T	c.(40258-40260)caC>caT	p.H13420H	MUC16_ENST00000380951.5_Silent_p.H61H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13422	SEA 9.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTGATGCCGTGGGTCAGCT	0.582000													83	183					0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167508197	167508197	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:167508197G>A	ENST00000295777.5	+	3	719	c.288G>A	c.(286-288)atG>atA	p.M96I	SERPINI1_ENST00000446050.2_Missense_Mutation_p.M96I	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	96					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TTTCAAACATGGTAACTGCTA	0.343000													22	47					0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7242032	7242032	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:7242032C>T	ENST00000542285.1	-	5	771	c.622G>A	c.(622-624)Gag>Aag	p.E208K				P00736	C1R_HUMAN	complement component 1, r subcomponent	209	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CGAGGGTACTCCAGGCTGGAG	0.622000													54	20					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109381511	109381511	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:109381511A>G	ENST00000283195.6	+	20	4642	c.4516A>G	c.(4516-4518)Aga>Gga	p.R1506G		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1506					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCAGAATCCGAGAAAACAGAG	0.403000													27	70					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060524	9060524	+	Silent	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:9060524G>A	ENST00000397910.4	-	3	27125	c.26922C>T	c.(26920-26922)acC>acT	p.T8974T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8976	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTCTTTTATGGTGGAAGAGG	0.488000													84	152					0	0	1	0	0
NDRG2	57447	broad.mit.edu	37	14	21487854	21487854	+	Silent	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr14:21487854G>A	ENST00000556147.1	-	10	1600	c.660C>T	c.(658-660)atC>atT	p.I220I	NDRG2_ENST00000397855.3_Silent_p.I177I|NDRG2_ENST00000553503.1_Silent_p.I206I|NDRG2_ENST00000403829.3_Silent_p.I216I|NDRG2_ENST00000554143.1_Silent_p.I206I|NDRG2_ENST00000397844.2_Silent_p.I206I|NDRG2_ENST00000397851.2_Silent_p.I220I|NDRG2_ENST00000350792.3_Silent_p.I206I|NDRG2_ENST00000554104.1_Silent_p.I133I|NDRG2_ENST00000554277.1_5'UTR|NDRG2_ENST00000397858.1_Silent_p.I220I|NDRG2_ENST00000397847.2_Silent_p.I220I|NDRG2_ENST00000397856.3_Silent_p.I206I|NDRG2_ENST00000298684.5_Silent_p.I177I|NDRG2_ENST00000555158.1_Silent_p.I206I|NDRG2_ENST00000397853.3_Silent_p.I220I|NDRG2_ENST00000360463.3_Silent_p.I206I|NDRG2_ENST00000298687.5_Silent_p.I220I			Q9UN36	NDRG2_HUMAN	NDRG family member 2	220					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CATGTGTAATGATATTTCTGT	0.403000													8	7					0	0	1	0	0
CASP5	838	broad.mit.edu	37	11	104869611	104869611	+	Splice_Site	SNP	C	C	T	rs141481245	byFrequency	TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:104869611C>T	ENST00000393141.2	-	7	1167		c.e7+1		CASP5_ENST00000444749.2_Splice_Site|CASP5_ENST00000260315.3_Splice_Site|CASP5_ENST00000531367.1_Splice_Site|CASP5_ENST00000418434.1_Splice_Site|CASP5_ENST00000393139.2_Splice_Site|CASP5_ENST00000526056.1_Splice_Site	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase						apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		AAGACACATACGTGGTGTTGA	0.438000													38	66					0	0	1	0	0
CYP3A4	1576	broad.mit.edu	37	7	99367466	99367466	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:99367466A>G	ENST00000336411.2	-	6	629	c.446T>C	c.(445-447)aTt>aCt	p.I149T	CYP3A4_ENST00000354593.2_Intron	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	149					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	ATACTGGGCAATGATAGGGAC	0.498000													45	71					0	0	1	0	0
NPBWR1	2831	broad.mit.edu	37	8	53853443	53853443	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr8:53853443G>T	ENST00000331251.3	+	1	2453	c.976G>T	c.(976-978)Gcg>Tcg	p.A326S		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	326					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				AACTTGCCGCGCGGCAGCCTG	0.697000													11	19					3.07112e-06	3.36996e-06	1	1	0
SLC13A2	9058	broad.mit.edu	37	17	26821423	26821423	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:26821423C>A	ENST00000444914.3	+	9	1768	c.1348C>A	c.(1348-1350)Ctg>Atg	p.L450M	SLC13A2_ENST00000314669.5_Missense_Mutation_p.L401M|SLC13A2_ENST00000537681.1_Missense_Mutation_p.L330M|SLC13A2_ENST00000545060.1_Missense_Mutation_p.L358M	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	401						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCCAGGGAAGCTGAAGGCCCC	0.567000											OREG0024276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	52					6.44725e-10	7.62733e-10	1	1	0
DSCAML1	57453	broad.mit.edu	37	11	117403130	117403130	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:117403130C>A	ENST00000321322.6	-	4	800	c.799G>T	c.(799-801)Gag>Tag	p.E267*	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	207	Ig-like C2-type 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGCCGGGTCTCCCCGCTATAC	0.607000													26	32					9.86323e-18	1.31015e-17	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129714237	129714237	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:129714237C>T	ENST00000421865.2	+	37	5331	c.5282C>T	c.(5281-5283)tCc>tTc	p.S1761F		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1761	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTTGGAGAGTCCCGGGGGGAA	0.468000													24	32					0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16354523	16354523	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:16354523G>T	ENST00000375692.1	+	11	1005	c.877G>T	c.(877-879)Ggc>Tgc	p.G293C	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.G293C|CLCNKA_ENST00000439316.2_Missense_Mutation_p.G250C|CLCNKA_ENST00000331433.4_Missense_Mutation_p.G293C			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	293					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TGGCATCTGCGGCGTCCTGAG	0.582000													36	22					4.92203e-23	6.88304e-23	1	1	0
RFPL3S	10737	broad.mit.edu	37	22	32756822	32756822	+	Silent	SNP	C	C	A	rs113576289		TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr22:32756822C>A	ENST00000400234.1	-	5	365	c.216G>T	c.(214-216)gcG>gcT	p.A72A	RFPL3_ENST00000382088.3_3'UTR|RFPL3S_ENST00000461833.1_5'UTR|RFPL3_ENST00000249007.4_3'UTR|RFPL3S_ENST00000382084.4_Silent_p.A43A|RFPL3_ENST00000397468.1_3'UTR																							CCAAATAAGCCGCCACTGCAA	0.433000													17	26					3.41278e-10	4.05555e-10	1	1	0
SYNE3	161176	broad.mit.edu	37	14	95918720	95918720	+	Splice_Site	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr14:95918720C>T	ENST00000334258.5	-	6	1152	c.1137_splice	c.e6-1	p.A380_splice	SYNE3_ENST00000554873.1_Splice_Site_p.A137_splice|SYNE3_ENST00000553340.1_Splice_Site_p.A380_splice|SYNE3_ENST00000557275.1_Splice_Site_p.A380_splice	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						GCCCGTGTTGCCTGCAGCACA	0.652000											OREG0022900	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	11					0	0	1	0	0
ZXDC	79364	broad.mit.edu	37	3	126194408	126194408	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:126194408G>A	ENST00000389709.3	-	1	354	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C	ZXDC_ENST00000336332.5_Missense_Mutation_p.R101C	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	101					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		AGGTTGACACGGGAGCCAGGC	0.761000													4	14					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181767769	181767769	+	Silent	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:181767769G>A	ENST00000526775.1	+	46	6720	c.6555G>A	c.(6553-6555)gaG>gaA	p.E2185E	CACNA1E_ENST00000358338.5_Silent_p.E2136E|CACNA1E_ENST00000367570.1_Silent_p.E2204E|CACNA1E_ENST00000367573.2_Silent_p.E2247E|CACNA1E_ENST00000367567.4_Silent_p.E1811E|CACNA1E_ENST00000357570.5_Silent_p.E2198E|CACNA1E_ENST00000360108.3_Silent_p.E2228E	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2247					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GTGGTGAGGAGGAGACGCTCA	0.642000													9	20					0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88658719	88658719	+	Silent	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr14:88658719G>T	ENST00000340700.5	-	5	1153	c.702C>A	c.(700-702)atC>atA	p.I234I	KCNK10_ENST00000312350.5_Silent_p.I239I|KCNK10_ENST00000319231.5_Silent_p.I239I	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	234					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGATGGTTGAGATGACCCGGA	0.493000													43	25					5.48756e-27	7.8183e-27	1	1	0
ZNF106	64397	broad.mit.edu	37	15	42742648	42742648	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr15:42742648C>A	ENST00000263805.4	-	2	2079	c.1753G>T	c.(1753-1755)Gca>Tca	p.A585S	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		TCTTCTAGTGCGTGCACTTGA	0.388000													125	101					1.05615e-46	1.55922e-46	1	1	0
PCDHGB6	56100	broad.mit.edu	37	5	140789910	140789910	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:140789910G>A	ENST00000520790.1	+	1	2141	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGCCTTGCGCCTGCGACGC	0.577000													60	67					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568151	7568151	+	Silent	SNP	T	T	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr16:7568151T>C	ENST00000340209.4	+	2	342	c.45T>C	c.(43-45)ggT>ggC	p.G15G	RBFOX1_ENST00000550418.1_Silent_p.G10G|RBFOX1_ENST00000535565.2_Silent_p.G46G|RBFOX1_ENST00000355637.4_Silent_p.G30G|RBFOX1_ENST00000547338.1_Silent_p.G10G|RBFOX1_ENST00000547372.1_Silent_p.G53G|RBFOX1_ENST00000553186.1_Silent_p.G10G|RBFOX1_ENST00000436368.2_Silent_p.G30G|RBFOX1_ENST00000311745.5_Silent_p.G30G|RBFOX1_ENST00000552089.1_Silent_p.G46G|RBFOX1_ENST00000422070.4_Silent_p.G53G			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	10					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TTTTTCAGGGTAATCAGGAAG	0.587000													120	203					0	0	1	0	0
ACBD4	79777	broad.mit.edu	37	17	43216411	43216411	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:43216411G>T	ENST00000398322.3	+	8	1131	c.673G>T	c.(673-675)Ggg>Tgg	p.G225W	ACBD4_ENST00000321854.8_Missense_Mutation_p.G225W|ACBD4_ENST00000586346.1_Silent_p.R237R|ACBD4_ENST00000592162.1_Intron|ACBD4_ENST00000376955.4_Silent_p.R221R|ACBD4_ENST00000591859.1_Silent_p.R237R|ACBD4_ENST00000431281.1_Silent_p.R237R	NM_024722.2	NP_078998.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	222							fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						CAGCCCGCCGGGGCCCCAGGA	0.682000													41	60					6.48837e-15	8.28635e-15	1	1	0
EPAS1	2034	broad.mit.edu	37	2	46574193	46574193	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:46574193C>T	ENST00000263734.3	+	2	718	c.208C>T	c.(208-210)Ctc>Ttc	p.L70F	EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	70					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACACAAGCTCCTCTCCTCAGG	0.602000													25	40					0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131293958	131293958	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:131293958G>T	ENST00000512055.1	-	14	3010	c.884C>A	c.(883-885)tCt>tAt	p.S295Y	CPNE4_ENST00000511604.1_Missense_Mutation_p.S295Y|CPNE4_ENST00000512332.1_Missense_Mutation_p.S313Y|CPNE4_ENST00000429747.1_Missense_Mutation_p.S295Y|CPNE4_ENST00000502818.1_Missense_Mutation_p.S313Y			Q96A23	CPNE4_HUMAN	copine IV	295										central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						GTCCAAGAAAGAATGCATCTT	0.418000													29	40					1.13719e-10	1.3636e-10	1	1	0
RANBP9	10048	broad.mit.edu	37	6	13711709	13711709	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:13711709G>T	ENST00000011619.3	-	1	87	c.29C>A	c.(28-30)cCg>cAg	p.P10Q		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	10	Poly-Pro.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ctgctgctgcggcggcggcgg	0.761000													2	2					0.004672	0.00482682	1	1	0
HEATR1	55127	broad.mit.edu	37	1	236734671	236734671	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:236734671T>C	ENST00000366582.3	-	28	4042	c.3928A>G	c.(3928-3930)Act>Gct	p.T1310A	HEATR1_ENST00000366581.2_Missense_Mutation_p.T1229A	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1310					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CCAGCAACAGTGCCCAAAAGT	0.413000													30	18					0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150869334	150869334	+	Silent	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:150869334C>A	ENST00000370353.3	+	4	915	c.525C>A	c.(523-525)ctC>ctA	p.L175L	PRRG3_ENST00000538575.1_Silent_p.L175L			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	175						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGCACCCTCTACCTCCCTG	0.672000													26	6					2.41591e-17	3.1931e-17	1	1	0
CEACAM7	1087	broad.mit.edu	37	19	42181430	42181430	+	Splice_Site	SNP	A	A	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:42181430A>T	ENST00000006724.3	-	4	909	c.706_splice	c.e4-1	p.Y236_splice	CEACAM7_ENST00000602225.1_Splice_Site_p.Y143_splice|CEACAM7_ENST00000338196.4_Splice_Site_p.Y143_splice|CEACAM7_ENST00000401731.1_Splice_Site_p.Y236_splice	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	236			Y -> H (in dbSNP:rs16975478).			anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GTACTGACTCATCTGCCATGG	0.473000													26	13					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962430	73962430	+	Silent	SNP	T	T	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:73962430T>C	ENST00000373468.1	-	3	2613	c.1962A>G	c.(1960-1962)tcA>tcG	p.S654S	KIAA2022_ENST00000055682.5_Silent_p.S654S			Q5QGS0	K2022_HUMAN	KIAA2022	654					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CATTACATAATGAAATCTGTT	0.428000													8	2					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46594641	46594641	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr13:46594641T>C	ENST00000242848.4	-	5	739	c.391A>G	c.(391-393)Aag>Gag	p.K131E	ZC3H13_ENST00000282007.3_Missense_Mutation_p.K131E			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	131							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GTTCTTTCCTTAGTGATTTTT	0.299000													15	2					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103381186	103381186	+	Splice_Site	SNP	C	C	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:103381186C>G	ENST00000358392.2	-	50	4170		c.e50+1		COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACAGTACTTACGCCTACACCT	0.388000													30	10					0	0	1	0	0
AP5Z1	9907	broad.mit.edu	37	7	4823980	4823980	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:4823980G>T	ENST00000348624.4	+	6	862	c.768G>T	c.(766-768)gaG>gaT	p.E256D	AP5Z1_ENST00000401897.1_Missense_Mutation_p.E256D	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	256					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										GCGGCCCCGAGGGCCCGGGCA	0.697000													7	6					8.12818e-05	8.58155e-05	1	1	0
TRAV26-2	28656	broad.mit.edu	37	14	22671000	22671000	+	RNA	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr14:22671000C>A	ENST00000390460.1	+	0	65																											GCTAAGACCACACAGCCAAAT	0.453000													16	7					0.00121646	0.00126914	1	1	0
AGPS	8540	broad.mit.edu	37	2	178364423	178364423	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:178364423T>A	ENST00000264167.4	+	14	1586	c.1440T>A	c.(1438-1440)caT>caA	p.H480Q	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	480					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TTCTTCAACATGAAAAACAAG	0.338000													23	40					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216040501	216040501	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:216040501T>C	ENST00000366943.2	-	44	9079	c.8693A>G	c.(8692-8694)tAt>tGt	p.Y2898C	USH2A_ENST00000307340.3_Missense_Mutation_p.Y2898C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2898	Fibronectin type-III 15.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATATATTCATAGGTTGTAAA	0.343000										HNSCC(13;0.011)			8	22					0	0	1	0	0
PABPC5	140886	broad.mit.edu	37	X	90690749	90690749	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:90690749C>T	ENST00000312600.3	+	2	387	c.173C>T	c.(172-174)cCc>cTc	p.P58L	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	58	RRM 1.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						ACCCGCAGCCCCCTGGGCTAT	0.532000													12	2					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974158	49974158	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:49974158G>T	ENST00000555099.1	+	1	216	c.184G>T	c.(184-186)Gcc>Tcc	p.A62S		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CTTTTTCCTGGCCTATCTCTC	0.433000													75	121					8.70839e-23	1.21459e-22	1	1	0
ACBD4	79777	broad.mit.edu	37	17	43216410	43216410	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:43216410G>T	ENST00000431281.1	+	11	1179	c.710G>T	c.(709-711)cGg>cTg	p.R237L	ACBD4_ENST00000398322.3_Silent_p.P224P|ACBD4_ENST00000321854.8_Silent_p.P224P|ACBD4_ENST00000586346.1_Missense_Mutation_p.R237L|ACBD4_ENST00000592162.1_Intron|ACBD4_ENST00000376955.4_Missense_Mutation_p.R221L|ACBD4_ENST00000591859.1_Missense_Mutation_p.R237L	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	221							fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						GCAGCCCGCCGGGGCCCCAGG	0.677000													40	59					6.45866e-13	8.13085e-13	1	1	0
C1orf173	127254	broad.mit.edu	37	1	75055753	75055753	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:75055753C>T	ENST00000326665.5	-	12	1956	c.1738G>A	c.(1738-1740)Gct>Act	p.A580T	C1orf173_ENST00000420661.2_Missense_Mutation_p.A383T|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	580	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTTGATGAAGCAGTTTTCATA	0.368000													7	14					0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118970235	118970235	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:118970235G>T	ENST00000515256.1	+	3	964	c.792G>T	c.(790-792)atG>atT	p.M264I				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	264						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						ATCTCACCATGGCTCAGCTGA	0.542000													92	113					2.46799e-47	3.66396e-47	1	1	0
GATAD2A	54815	broad.mit.edu	37	19	19606652	19606652	+	Silent	SNP	G	G	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:19606652G>C	ENST00000404158.1	+	8	1132	c.714G>C	c.(712-714)gcG>gcC	p.A238A	GATAD2A_ENST00000252577.5_Silent_p.A238A|GATAD2A_ENST00000537887.1_Intron|GATAD2A_ENST00000360315.3_Silent_p.A238A|GATAD2A_ENST00000494516.1_Intron|GATAD2A_ENST00000358713.3_Silent_p.A238A|GATAD2A_ENST00000429563.2_Silent_p.A65A			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	238					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GGCCACAGGCGAGCTCACAGG	0.657000													18	28					0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150490256	150490256	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:150490256T>C	ENST00000447204.2	-	5	892	c.520A>G	c.(520-522)Act>Gct	p.T174A	TMEM176B_ENST00000434545.1_Missense_Mutation_p.T174A|TMEM176B_ENST00000326442.5_Missense_Mutation_p.T174A|TMEM176B_ENST00000450753.2_Missense_Mutation_p.T137A|TMEM176B_ENST00000492607.1_Missense_Mutation_p.T174A|TMEM176B_ENST00000429904.2_Missense_Mutation_p.T174A	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	174					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGTACCCAGTGGTAGGGAAG	0.512000													26	38					0	0	1	0	0
HOXC9	3225	broad.mit.edu	37	12	54396287	54396287	+	Silent	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:54396287G>A	ENST00000303450.4	+	2	682	c.612G>A	c.(610-612)acG>acA	p.T204T	HOXC9_ENST00000508190.1_Silent_p.T204T|HOXC9_ENST00000504557.1_3'UTR	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	204					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						AGTACCAGACGCTGGAACTGG	0.572000													33	70					0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55904598	55904598	+	Silent	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:55904598G>T	ENST00000301529.1	-	1	596	c.597C>A	c.(595-597)gtC>gtA	p.V199V		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					CAGATATAAAGACTATTGTTT	0.313000													15	32					1.52009e-12	1.90461e-12	1	1	0
FOLR2	2350	broad.mit.edu	37	11	71932330	71932330	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:71932330G>A	ENST00000449475.2	+	4	799	c.501G>A	c.(499-501)tgG>tgA	p.W167*	FOLR2_ENST00000298223.6_Nonsense_Mutation_p.W150*|FOLR2_ENST00000454954.2_Nonsense_Mutation_p.W109*			P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	150					folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity			breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	AGAGCAACTGGCACAGAGGAT	0.532000													12	26					0	0	1	0	0
MRPS30	10884	broad.mit.edu	37	5	44809102	44809102	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:44809102G>T	ENST00000507110.1	+	1	76	c.38G>T	c.(37-39)gGt>gTt	p.G13V		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	13					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TTGCTACGCGGTCCGAGGCTT	0.642000													3	15					0.150653	0.151799	1	1	0
NOMO1	23420	broad.mit.edu	37	16	14976452	14976452	+	Splice_Site	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr16:14976452C>T	ENST00000287667.7	+	26	3200	c.3027_splice	c.e26-1	p.P1010_splice		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1010						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTTTTGCAGCCGGGATGTGTG	0.547000													57	81					0	0	1	0	0
SRPRB	58477	broad.mit.edu	37	3	133534498	133534498	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:133534498C>G	ENST00000466490.2	+	6	760	c.475C>G	c.(475-477)Ctg>Gtg	p.L159V		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	159						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						GGCTGAGTTTCTGTATCAAGT	0.418000													9	188					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11144071	11144071	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:11144071G>A	ENST00000358026.2	+	26	3936	c.3652G>A	c.(3652-3654)Gcc>Acc	p.A1218T	SMARCA4_ENST00000444061.3_Missense_Mutation_p.A1218T|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A1218T|SMARCA4_ENST00000429416.3_Missense_Mutation_p.A1218T|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A1218T|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A1218T|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A1218T|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A1218T|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A1218T	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1218	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCTAGCTGCAGCCAAGTACAA	0.632000			"""F, N, Mis"""		NSCLC								54	74					0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122828721	122828721	+	Splice_Site	SNP	A	A	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:122828721A>T	ENST00000264811.5	-	6	1993	c.1573_splice	c.e6-1	p.A525_splice	TRPC3_ENST00000379645.3_Splice_Site_p.A598_splice|TRPC3_ENST00000513531.1_Splice_Site_p.A470_splice	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	513					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ATTTATCTCTAGCTAGAAAAA	0.413000													22	30					0	0	1	0	0
DHFR	1719	broad.mit.edu	37	5	79924954	79924954	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:79924954C>A	ENST00000439211.2	-	6	1009	c.516G>T	c.(514-516)gaG>gaT	p.E172D	DHFR_ENST00000511032.1_3'UTR|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000504396.1_Missense_Mutation_p.E120D|DHFR_ENST00000505337.1_Missense_Mutation_p.E172D	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	172	DHFR.				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	TGCCTTTCTCCTCCTGGACAT	0.328000													12	14					0.000219431	0.00023121	1	1	0
GPRC5B	51704	broad.mit.edu	37	16	19883697	19883697	+	Silent	SNP	G	G	T	rs144341472		TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr16:19883697G>T	ENST00000300571.2	-	2	662	c.471C>A	c.(469-471)ccC>ccA	p.P157P	GPRC5B_ENST00000569847.1_Silent_p.P157P|GPRC5B_ENST00000569479.1_Silent_p.P157P|GPRC5B_ENST00000535671.1_Silent_p.P157P|GPRC5B_ENST00000537135.1_Silent_p.P183P	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	157										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCCAGCCCGCGGGGCCCGTGC	0.687000													20	37					3.51602e-12	4.36414e-12	1	1	0
RGR	5995	broad.mit.edu	37	10	86012697	86012697	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:86012697T>A	ENST00000359452.4	+	4	493	c.455T>A	c.(454-456)cTg>cAg	p.L152Q	RGR_ENST00000358110.5_Missense_Mutation_p.L148Q	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	148			H -> N.		phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CTGCCCCTTCTGGGTTGGGGT	0.617000													21	41					0	0	1	0	0
RNF32	140545	broad.mit.edu	37	7	156450872	156450872	+	Silent	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:156450872C>T	ENST00000392741.2	+	5	589	c.501C>T	c.(499-501)ctC>ctT	p.L167L	RNF32_ENST00000432459.2_Silent_p.L167L|RNF32_ENST00000480011.1_Intron|RNF32_ENST00000343665.4_Intron|RNF32_ENST00000317955.5_Silent_p.L167L|RNF32_ENST00000311822.8_Silent_p.L167L|RNF32_ENST00000392743.2_Silent_p.L167L|RNF32_ENST00000405335.1_Silent_p.L167L			Q9H0A6	RNF32_HUMAN	ring finger protein 32	167						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CCTGTCCTCTCTGTAGAAAGA	0.428000													19	28					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2613673	2613673	+	Silent	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:2613673C>T	ENST00000399634.1	+	8	1185	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399617.1_Silent_p.F395F|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399641.1_Silent_p.F395F|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399603.1_Silent_p.F395F|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000406454.3_Silent_p.F395F|CACNA1C_ENST00000327702.7_Intron	NM_001167625.1	NP_001161097.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	395					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GATCCTTTTTCGTTCTAAATC	0.488000													149	60					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207649644	207649644	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:207649644C>T	ENST00000367057.3	+	15	2971	c.2782C>T	c.(2782-2784)Cga>Tga	p.R928*	CR2_ENST00000367059.3_Intron|CR2_ENST00000367058.3_Nonsense_Mutation_p.R869*|CR2_ENST00000458541.2_Nonsense_Mutation_p.R842*	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	869	Sushi 15.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AAACATAGCTCGATTTTCTCC	0.512000													20	56					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46312211	46312211	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:46312211A>T	ENST00000510861.1	-	6	711	c.538T>A	c.(538-540)Tgt>Agt	p.C180S	GABRA2_ENST00000381620.4_Missense_Mutation_p.C180S|GABRA2_ENST00000507069.1_Missense_Mutation_p.C180S|GABRA2_ENST00000356504.1_Missense_Mutation_p.C180S|GABRA2_ENST00000515082.1_Missense_Mutation_p.C180S|GABRA2_ENST00000514090.1_Missense_Mutation_p.C180S|GABRA2_ENST00000540012.1_Missense_Mutation_p.C125S			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	180					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTCAGAGGACATGAATGAGCA	0.388000													27	38					0	0	1	0	0
PHYHIPL	84457	broad.mit.edu	37	10	60998404	60998404	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:60998404C>A	ENST00000373880.4	+	4	799	c.535C>A	c.(535-537)Cgc>Agc	p.R179S	PHYHIPL_ENST00000373878.3_Missense_Mutation_p.R153S|PHYHIPL_ENST00000472199.1_3'UTR	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	179										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						GATTGCAGGACGCATGCTTAA	0.303000													24	62					2.21704e-12	2.77129e-12	1	1	0
KDM3B	51780	broad.mit.edu	37	5	137727661	137727661	+	Silent	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:137727661G>A	ENST00000314358.5	+	8	2540	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P	KDM3B_ENST00000394866.1_Silent_p.P436P|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	780					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TGTCCTCCCCGGCAGATTTTT	0.532000													168	267					0	0	1	0	0
TUBB	203068	broad.mit.edu	37	6	30688164	30688164	+	Translation_Start_Site	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:30688164G>A	ENST00000327892.8	+	0	187				TUBB_ENST00000435534.1_De_novo_Start_OutOfFrame	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I						cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	TTTGCACCTCGCTGCTCCAGC	0.617000													3	1					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108696910	108696910	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:108696910G>A	ENST00000218006.2	-	4	1502	c.1211C>T	c.(1210-1212)tCa>tTa	p.S404L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	404					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TACATATTCTGAAATTCCATT	0.478000													82	8					0	0	1	0	0
MRPL10	124995	broad.mit.edu	37	17	45906032	45906032	+	Silent	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:45906032C>A	ENST00000290208.7	-	2	539	c.87G>T	c.(85-87)cgG>cgT	p.R29R	MRPL10_ENST00000351111.2_Silent_p.R19R|MRPL10_ENST00000414011.1_Silent_p.R29R			Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	19					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GGGTAGGCAGCCGGCCTGGGA	0.547000													18	24					1.33834e-09	1.56929e-09	1	1	0
ACSM2A	123876	broad.mit.edu	37	16	20497919	20497919	+	Silent	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr16:20497919C>A	ENST00000573854.1	+	14	1767	c.1653C>A	c.(1651-1653)ccC>ccA	p.P551P	ACSM2A_ENST00000417235.2_Silent_p.P472P|ACSM2A_ENST00000219054.6_Silent_p.P551P|ACSM2A_ENST00000396104.2_Silent_p.P551P|ACSM2A_ENST00000536134.1_Silent_p.P323P|ACSM2A_ENST00000575690.1_Silent_p.P551P	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	551					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGAACCTGCCCAAGACTGTCA	0.478000													58	91					1.07796e-43	1.58699e-43	1	1	0
USH2A	7399	broad.mit.edu	37	1	215956128	215956128	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:215956128G>T	ENST00000366943.2	-	53	10923	c.10537C>A	c.(10537-10539)Ctt>Att	p.L3513I	USH2A_ENST00000307340.3_Missense_Mutation_p.L3513I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3513	Fibronectin type-III 20.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTATCTTCAAGATTGTCTATT	0.383000										HNSCC(13;0.011)			22	31					3.01185e-09	3.47773e-09	1	1	0
GRXCR1	389207	broad.mit.edu	37	4	43022383	43022383	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:43022383A>T	ENST00000399770.2	+	3	640	c.640A>T	c.(640-642)Att>Ttt	p.I214F		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	214	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TGCTGAGAAAATTTTGTCAAT	0.323000													14	25					0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107492462	107492462	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:107492462C>A	ENST00000415149.2	+	11	2221	c.1894C>A	c.(1894-1896)Ctg>Atg	p.L632M	BBX_ENST00000406780.1_Missense_Mutation_p.L632M|BBX_ENST00000416476.2_Intron|BBX_ENST00000325805.8_Missense_Mutation_p.L632M|BBX_ENST00000402543.1_Missense_Mutation_p.L632M	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	632					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GCTCACCTCTCTGCGAGCTAA	0.413000													15	19					7.93312e-07	8.79614e-07	1	1	0
COL18A1	80781	broad.mit.edu	37	21	46912604	46912604	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr21:46912604C>G	ENST00000359759.4	+	23	3457	c.3436C>G	c.(3436-3438)Cgg>Ggg	p.R1146G	COL18A1_ENST00000355480.5_Missense_Mutation_p.R911G|COL18A1_ENST00000400337.2_Missense_Mutation_p.R731G			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1146	Triple-helical region 5 (COL5).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TCCCCAGGGCCGGCCGGGTTT	0.701000													42	24					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834371	101834371	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:101834371T>A	ENST00000506729.1	-	1	349	c.178A>T	c.(178-180)Agg>Tgg	p.R60W	SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R60W|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R60W|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R60W|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R60W			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	60						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCGCCGAACCTTATCAAGGCC	0.552000													120	164					0	0	1	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86324617	86324617	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:86324617G>A	ENST00000369622.3	-	11	2229	c.1729C>T	c.(1729-1731)Cgg>Tgg	p.R577W	RP11-321N4.5_ENST00000503906.1_Intron|SYNCRIP_ENST00000355238.6_Intron	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	577					CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GTCTGGCGCCGCTTGGAATCT	0.542000													68	158					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11294218	11294218	+	Silent	SNP	G	G	A	rs148505575		TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:11294218G>A	ENST00000361445.4	-	14	2389	c.2313C>T	c.(2311-2313)taC>taT	p.Y771Y		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	771					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TAGGCTCCATGTAGGGGCGGA	0.542000													55	20					0	0	1	0	0
ZMAT2	153527	broad.mit.edu	37	5	140080472	140080472	+	Silent	SNP	C	C	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:140080472C>G	ENST00000274712.3	+	2	214	c.87C>G	c.(85-87)ctC>ctG	p.L29L		NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2	29						nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAGAGGCTCACGGAAGAGA	0.498000													11	42					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151392833	151392833	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:151392833A>G	ENST00000535741.1	-	43	7083	c.6610T>C	c.(6610-6612)Tgg>Cgg	p.W2204R	LRBA_ENST00000507224.1_Missense_Mutation_p.W2204R|LRBA_ENST00000357115.3_Missense_Mutation_p.W2215R|LRBA_ENST00000510413.1_Missense_Mutation_p.W2204R|LRBA_ENST00000503716.1_5'UTR			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2215	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	p.W2215R(1)		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)					CTGTGTTGCCATCGCTGGGTC	0.323000													22	39					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546792	11546792	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:11546792G>T	ENST00000389362.4	-	3	255	c.220C>A	c.(220-222)Cct>Act	p.P74T	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTTCCTGGAGGAGGTGGGGGA	0.602000													149	509					1.19998e-34	1.74722e-34	1	1	0
ADK	132	broad.mit.edu	37	10	76158270	76158270	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:76158270A>C	ENST00000372734.3	+	6	624	c.437A>C	c.(436-438)aAg>aCg	p.K146T	ADK_ENST00000541550.1_Missense_Mutation_p.K128T|ADK_ENST00000539909.1_Missense_Mutation_p.K163T|ADK_ENST00000286621.2_Missense_Mutation_p.K163T	NM_001123.3|NM_001202449.1	NP_001114.2|NP_001189378.1	P55263	ADK_HUMAN	adenosine kinase	163					purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	TGTTATAAAAAGGAAAAACAT	0.318000													8	20					0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50803977	50803977	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:50803977G>A	ENST00000263046.4	+	5	998	c.832G>A	c.(832-834)Ggc>Agc	p.G278S	TFAP2B_ENST00000393655.3_Missense_Mutation_p.G269S			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	269					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					ATCTCTCCTCGGCGGAGTCCT	0.448000													11	2					0	0	1	0	0
PCDHB17P	54661	broad.mit.edu	37	5	140537262	140537262	+	Silent	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:140537262G>T	ENST00000539533.1	+	1	1686	c.1686G>T	c.(1684-1686)tcG>tcT	p.S562S																								CTCGCCCTTCGTGCTGTACCC	0.711000													46	55					2.27781e-18	3.04858e-18	1	1	0
MYO1E	4643	broad.mit.edu	37	15	59553688	59553688	+	Silent	SNP	T	T	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr15:59553688T>C	ENST00000288235.4	-	3	567	c.168A>G	c.(166-168)ttA>ttG	p.L56L	MYO1E_ENST00000558814.1_Intron	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	56	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TGACTGAGATTAATACAGATC	0.338000													42	14					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206659496	206659496	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:206659496G>A	ENST00000360409.3	+	17	3301	c.2510G>A	c.(2509-2511)tGg>tAg	p.W837*	NRP2_ENST00000540178.1_Nonsense_Mutation_p.W832*|NRP2_ENST00000412873.2_Nonsense_Mutation_p.W815*|NRP2_ENST00000357785.5_Nonsense_Mutation_p.W832*|NRP2_ENST00000540841.1_Nonsense_Mutation_p.W815*	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	837					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GAGGTGGACTGGAGCAATTCT	0.532000													33	75					0	0	1	0	0
FAM66D	100132923	broad.mit.edu	37	8	11986233	11986233	+	RNA	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr8:11986233G>T	ENST00000434078.2	+	0	608					NR_027425.1																						GGTGGATGAGGATGGTGTCCT	0.478000													10	17					1.33987e-11	1.64764e-11	1	1	0
CCDC170	80129	broad.mit.edu	37	6	151894603	151894603	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:151894603A>G	ENST00000367290.5	+	6	1158	c.1069A>G	c.(1069-1071)Agc>Ggc	p.S357G	CCDC170_ENST00000239374.7_Missense_Mutation_p.S357G			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	357																	AGAAATGGACAGCCGGGAAGA	0.483000													20	26					0	0	1	0	0
ACVR1	90	broad.mit.edu	37	2	158617405	158617405	+	Silent	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:158617405C>T	ENST00000263640.3	-	9	1680	c.1251G>A	c.(1249-1251)cgG>cgA	p.R417R	ACVR1_ENST00000409283.2_Silent_p.R417R|ACVR1_ENST00000410057.2_Silent_p.R417R|ACVR1_ENST00000434821.1_Silent_p.R417R	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	417	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	TGCTCACCATCCGCCTGGCCA	0.408000													20	27					0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	94940875	94940875	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:94940875G>A	ENST00000222381.3	-	5	616	c.385C>T	c.(385-387)Ctc>Ttc	p.L129F	PON1_ENST00000542556.1_Missense_Mutation_p.L129F	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	129					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	ACCACCAGGAGGTACATGGCA	0.393000													25	53					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112758861	112758861	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:112758861C>G	ENST00000295408.4	+	11	1945	c.1688C>G	c.(1687-1689)aCc>aGc	p.T563S	MERTK_ENST00000409780.1_Missense_Mutation_p.T387S|MERTK_ENST00000421804.2_Missense_Mutation_p.T563S			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	563					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ATTGAACTTACCTGTAAGTTG	0.368000													10	29					0	0	1	0	0
OR10A6	390093	broad.mit.edu	37	11	7949863	7949863	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:7949863C>T	ENST00000309838.2	-	1	346	c.347G>A	c.(346-348)gGa>gAa	p.G116E		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGCCATTGCTCCCAGAAGAAA	0.368000													43	60					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50407494	50407494	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr20:50407494C>T	ENST00000217086.4	-	2	1639	c.1528G>A	c.(1528-1530)Ggg>Agg	p.G510R	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	510					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGAGAAGGCCCAGGCTGCAGG	0.587000													38	79					0	0	1	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478627	14478627	+	RNA	SNP	T	T	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr18:14478627T>C	ENST00000581457.1	-	0	1281					NR_024076.1																						GTTTCTGATGTACAGCTGTAT	0.423000													10	7					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368660	22368660	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr15:22368660G>C	ENST00000332663.2	+	1	183	c.85G>C	c.(85-87)Gtt>Ctt	p.V29L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AGTCCTATTTGTTATATTTCT	0.393000													56	194					0	0	1	0	0
TLE1	7088	broad.mit.edu	37	9	84230971	84230971	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr9:84230971C>G	ENST00000376499.3	-	11	1908	c.844G>C	c.(844-846)Gat>Cat	p.D282H	TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000464999.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	282	Pro/Ser-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CTAGAAGCATCCTTCTTTAGC	0.493000													36	66					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212046	26212046	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:26212046C>A	ENST00000379034.1	+	2	232	c.83C>A	c.(82-84)cCc>cAc	p.P28H		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	28										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CTCACGGGTCCCCAGGCCACT	0.567000													28	12					1.5548e-18	2.09148e-18	1	1	0
AKAP11	11215	broad.mit.edu	37	13	42891737	42891737	+	Silent	SNP	A	A	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr13:42891737A>G	ENST00000025301.2	+	12	5653	c.5478A>G	c.(5476-5478)ctA>ctG	p.L1826L		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1826					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ACCCCCAGCTAAGGATTATTC	0.393000													19	9					0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	86010637	86010637	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:86010637G>C	ENST00000383699.3	+	8	1437	c.810G>C	c.(808-810)tgG>tgC	p.W270C	CADM2_ENST00000407528.2_Missense_Mutation_p.W261C|CADM2_ENST00000405615.2_Missense_Mutation_p.W263C	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	261	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTGTTTTGTGGACAAAGGATG	0.348000													31	17					0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60505791	60505791	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:60505791C>T	ENST00000371201.3	-	5	652	c.545G>A	c.(544-546)aGa>aAa	p.R182K	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	182							calcium ion binding	p.R182T(2)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAGTTCTCTTCTGACCAGGGC	0.423000													47	61					0	0	1	0	0
FXR1	8087	broad.mit.edu	37	3	180630488	180630488	+	Silent	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:180630488G>T	ENST00000357559.4	+	1	399	c.15G>T	c.(13-15)acG>acT	p.T5T	FXR1_ENST00000491062.1_Silent_p.T5T|FXR1_ENST00000445140.2_Silent_p.T5T|FXR1_ENST00000305586.7_5'UTR|FXR1_ENST00000491674.1_Silent_p.T5T|FXR1_ENST00000468861.1_5'UTR	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	5					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			CGGAGCTGACGGTGGAGGTTC	0.597000											OREG0015934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	68	113					1.1794e-34	1.722e-34	1	1	0
ELAC1	55520	broad.mit.edu	37	18	48510848	48510848	+	Silent	SNP	C	C	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr18:48510848C>G	ENST00000269466.3	+	3	647	c.540C>G	c.(538-540)ctC>ctG	p.L180L	RP11-729L2.2_ENST00000590722.2_Intron|ELAC1_ENST00000591429.1_Silent_p.L180L|RP11-729L2.2_ENST00000588256.1_Intron|SMAD4_ENST00000452201.2_Intron|ELAC1_ENST00000588577.1_Intron	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	180					tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		CATTTCGCCTCTTTCACAGAA	0.388000													15	7					0	0	1	0	0
CABS1	85438	broad.mit.edu	37	4	71201383	71201383	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:71201383T>A	ENST00000273936.4	+	1	686	c.627T>A	c.(625-627)gaT>gaA	p.D209E		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	209						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGGTCACTGATTCCACTATTC	0.438000													16	36					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945746	16945746	+	RNA	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:16945746C>A	ENST00000412962.1	-	0	1773																											ACATGCAGCCCTGGAAAAGGG	0.582000													4	54					0.00909568	0.0093606	1	1	0
FBXW9	84261	broad.mit.edu	37	19	12800869	12800869	+	Silent	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:12800869C>T	ENST00000380339.3	-	6	1065	c.1029G>A	c.(1027-1029)ctG>ctA	p.L343L	FBXW9_ENST00000544494.1_Silent_p.L51L|FBXW9_ENST00000393261.3_Silent_p.L313L|FBXW9_ENST00000587955.1_Silent_p.L333L			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	343							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CATCCGCCAGCAGGGTCAGCA	0.657000													39	60					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146755256	146755256	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:146755256C>A	ENST00000361719.2	+	9	3379	c.2909C>A	c.(2908-2910)cCg>cAg	p.P970Q	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P970Q|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	970					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.P970Q(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CGCTTTAGCCCGCCTGGTAGC	0.622000													39	80					2.87052e-16	3.73802e-16	1	1	0
OR4C16	219428	broad.mit.edu	37	11	55340089	55340089	+	Silent	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:55340089G>T	ENST00000314634.3	+	1	486	c.486G>T	c.(484-486)ctG>ctT	p.L162L		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TTCTTGCCCTGAGTTTGCCAT	0.468000													39	63					1.60099e-16	2.1003e-16	1	1	0
BCLAF1	9774	broad.mit.edu	37	6	136597448	136597448	+	Silent	SNP	T	T	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:136597448T>A	ENST00000531224.1	-	5	1467	c.1215A>T	c.(1213-1215)acA>acT	p.T405T	BCLAF1_ENST00000527536.1_Silent_p.T405T|BCLAF1_ENST00000392348.2_Silent_p.T403T|BCLAF1_ENST00000353331.4_Silent_p.T403T|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527759.1_Silent_p.T403T	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	405					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TATAATCCTCTGTCTCCTCTG	0.433000													58	287					0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241534667	241534667	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:241534667C>G	ENST00000391984.2	+	7	1420	c.1224C>G	c.(1222-1224)agC>agG	p.S408R	CAPN10_ENST00000391982.2_Missense_Mutation_p.S408R|CAPN10_ENST00000354082.4_Missense_Mutation_p.S408R|CAPN10_ENST00000404753.3_Missense_Mutation_p.S408R|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000270364.7_Intron	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	408	Domain III 1.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		CTTCGTGGAGCCCAGCGAGCA	0.652000													18	26					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54760627	54760627	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:54760627G>T	ENST00000450632.1	-	3	157	c.80C>A	c.(79-81)cCc>cAc	p.P27H	LILRB5_ENST00000449561.2_Missense_Mutation_p.P27H|LILRB5_ENST00000345866.6_Missense_Mutation_p.P27H|LILRB5_ENST00000316219.5_Missense_Mutation_p.P27H			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	27	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTGGGTTTGGGGAGGGTGCC	0.622000													23	19					1.22574e-08	1.39708e-08	1	1	0
KCNT2	343450	broad.mit.edu	37	1	196295847	196295847	+	Splice_Site	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:196295847G>A	ENST00000367433.5	-	19	2377	c.2276_splice	c.e19+1	p.P759_splice	KCNT2_ENST00000367431.4_Splice_Site_p.P709_splice|KCNT2_ENST00000451324.2_Splice_Site_p.P370_splice|KCNT2_ENST00000294725.8_Splice_Site_p.P759_splice|KCNT2_ENST00000498426.1_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	759						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATATACTTACGGGTTATCCAA	0.284000													12	14					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	RNA	SNP	C	C	T	rs367060		TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085																											CTCAGCCTTCCGCCGGGCCAG	0.672000													3	9					0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5410672	5410672	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:5410672C>G	ENST00000328611.3	+	1	66	c.44C>G	c.(43-45)tCc>tGc	p.S15C	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	15						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCTGCTATCCAACATTACT	0.393000													49	74					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27670692	27670692	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:27670692A>T	ENST00000260570.3	-	41	4629	c.4526T>A	c.(4525-4527)gTc>gAc	p.V1509D		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1509					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GTTGAAGAGGACATCTCGAAG	0.458000													14	51					0	0	1	0	0
BICC1	80114	broad.mit.edu	37	10	60558967	60558967	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:60558967G>T	ENST00000373886.3	+	12	1684	c.1680G>T	c.(1678-1680)caG>caT	p.Q560H	BICC1_ENST00000263103.1_Missense_Mutation_p.Q186H	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	560					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ACAGTATGCAGACCGAAGGCA	0.453000													9	7					0.000274275	0.000287853	1	1	0
ABCB11	8647	broad.mit.edu	37	2	169814479	169814479	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:169814479G>C	ENST00000263817.6	-	19	2462	c.2338C>G	c.(2338-2340)Ctt>Gtt	p.L780V		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	780	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTTACCCCAAGAATCTGGCTG	0.423000													8	15					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237617718	237617718	+	Silent	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:237617718G>T	ENST00000366574.2	+	15	1637	c.1320G>T	c.(1318-1320)gcG>gcT	p.A440A	RYR2_ENST00000360064.6_Silent_p.A438A|RYR2_ENST00000542537.1_Silent_p.A424A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	440					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCAAGAAAGCGAAGGCTTCCA	0.408000													33	29					8.73648e-17	1.15182e-16	1	1	0
COLEC12	81035	broad.mit.edu	37	18	334986	334986	+	Silent	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr18:334986C>T	ENST00000400256.3	-	6	1779	c.1572G>A	c.(1570-1572)ggG>ggA	p.G524G		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	524	Collagen-like 2.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GGCCTGGGTCCCCACTGGAGC	0.721000													8	20					0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247920886	247920886	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:247920886T>A	ENST00000408896.2	-	1	1096	c.823A>T	c.(823-825)Acc>Tcc	p.T275S		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TACATGATGGTTGACAGAGTG	0.498000													67	40					0	0	1	0	0
WTIP	126374	broad.mit.edu	37	19	34991064	34991064	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:34991064G>A	ENST00000590071.2	+	8	1520	c.1183G>A	c.(1183-1185)Gga>Aga	p.G395R	WTIP_ENST00000270288.6_Missense_Mutation_p.G619R	NM_001080436.1	NP_001073905.1			Wilms tumor 1 interacting protein											NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CGGGGAGGAGGGACGCCGTTG	0.672000													10	20					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13087592	13087592	+	Silent	SNP	A	A	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr18:13087592A>G	ENST00000506447.1	+	32	6020	c.5940A>G	c.(5938-5940)ctA>ctG	p.L1980L	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Silent_p.L1505L|CEP192_ENST00000325971.8_Silent_p.L1384L	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1575										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CAACAGAACTATCAACTGTAT	0.313000													32	45					0	0	1	0	0
SPATA17	128153	broad.mit.edu	37	1	217947724	217947724	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:217947724G>A	ENST00000366933.4	+	7	623	c.568G>A	c.(568-570)Gag>Aag	p.E190K		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	190						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TGATCCATGGGAGCTGCAATT	0.393000													50	36					0	0	1	0	0
MS4A8	83661	broad.mit.edu	37	11	60482537	60482537	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:60482537T>C	ENST00000300226.2	+	6	781	c.578T>C	c.(577-579)cTc>cCc	p.L193P		NM_031457.1	NP_113645.1			membrane-spanning 4-domains, subfamily A, member 8																		GTCTTCTGCCTCCTGGAGTTT	0.577000													24	39					0	0	1	0	0
HLTF	6596	broad.mit.edu	37	3	148793756	148793756	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:148793756C>T	ENST00000310053.5	-	3	500	c.307G>A	c.(307-309)Gtg>Atg	p.V103M	HLTF_ENST00000494055.1_Missense_Mutation_p.V103M|HLTF_ENST00000465259.1_Missense_Mutation_p.V103M|HLTF_ENST00000392912.2_Missense_Mutation_p.V103M	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	103					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTTCCATTCACATTGTTTACT	0.318000													13	18					0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96708890	96708890	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:96708890T>C	ENST00000260682.6	+	5	680	c.668T>C	c.(667-669)aTt>aCt	p.I223T		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	223					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TCTCCTATCATTGATTACTTC	0.279000													10	25					0	0	1	0	0
TMEM225	338661	broad.mit.edu	37	11	123754038	123754038	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:123754038C>T	ENST00000375026.2	-	4	701	c.485G>A	c.(484-486)tGc>tAc	p.C162Y		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	162						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						AGACAACTTGCACTCTAGGAG	0.428000													18	34					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563029	140563029	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:140563029G>T	ENST00000361016.2	+	1	2050	c.895G>T	c.(895-897)Ggg>Tgg	p.G299W		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		299	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTATGACAGGGGAAGTTCG	0.453000													32	56					1.06801e-11	1.31639e-11	1	1	0
TP53	7157	broad.mit.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	rs121912654		TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:7578461C>A	ENST00000420246.2	-	5	601	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000269305.4_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGCGCGGACGCGGGTGCCG	0.617000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			20	8					4.35082e-09	5.0129e-09	1	1	0
LEPR	3953	broad.mit.edu	37	1	66062270	66062270	+	Silent	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:66062270C>A	ENST00000349533.6	+	7	1028	c.843C>A	c.(841-843)atC>atA	p.I281I	LEPR_ENST00000371058.1_Silent_p.I281I|LEPR_ENST00000371059.3_Silent_p.I281I|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371060.3_Silent_p.I281I|LEPR_ENST00000344610.8_Silent_p.I281I|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	281	Fibronectin type-III 1.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CAACAGTTATCAGAGAAGTAA	0.328000													10	19					3.86212e-05	4.1352e-05	1	1	0
FAP	2191	broad.mit.edu	37	2	163076364	163076364	+	Splice_Site	SNP	A	A	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:163076364A>T	ENST00000188790.4	-	7	692	c.486_splice	c.e7+1	p.L162_splice	FAP_ENST00000443424.1_Splice_Site_p.L137_splice	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	162					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.L162*(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						AACACTTACTAATTTACTCCC	0.328000													14	19					0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248128997	248128997	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:248128997C>A	ENST00000366480.3	+	1	463	c.364C>A	c.(364-366)Ctt>Att	p.L122I	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GTTCTTGGCCCTTGGTGGAAC	0.443000													182	147					2.03721e-84	3.07613e-84	1	1	0
GREM2	64388	broad.mit.edu	37	1	240656338	240656338	+	Silent	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:240656338G>T	ENST00000318160.4	-	2	704	c.438C>A	c.(436-438)ctC>ctA	p.L146L		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	146	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			GGATTTTCTTGAGTCGGAAGG	0.662000													92	15					2.59407e-49	3.86196e-49	1	1	0
CSMD3	114788	broad.mit.edu	37	8	114186129	114186129	+	Silent	SNP	A	A	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr8:114186129A>G	ENST00000297405.5	-	4	775	c.531T>C	c.(529-531)tcT>tcC	p.S177S	CSMD3_ENST00000455883.2_Silent_p.S177S|CSMD3_ENST00000352409.3_Silent_p.S177S|CSMD3_ENST00000343508.3_Silent_p.S137S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	177	Sushi 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GATTTCCACAAGAGCTACTCT	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			23	24					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177226508	177226508	+	Silent	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:177226508G>T	ENST00000361539.4	+	4	969	c.657G>T	c.(655-657)acG>acT	p.T219T	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		219						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						AGATAGCCACGGGGGCCATCA	0.612000													8	8					0.0581538	0.059045	1	1	0
SS18	6760	broad.mit.edu	37	18	23637654	23637654	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr18:23637654G>C	ENST00000415083.2	-	4	339	c.284C>G	c.(283-285)cCt>cGt	p.P95R	SS18_ENST00000269137.7_Missense_Mutation_p.P95R|SS18_ENST00000539849.1_Missense_Mutation_p.P13R|SS18_ENST00000542420.2_Missense_Mutation_p.P72R|SS18_ENST00000542743.1_Missense_Mutation_p.P43R|SS18_ENST00000545952.1_Missense_Mutation_p.P43R|SS18_ENST00000585241.1_5'UTR	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	95	Poly-Pro.|Transcriptional activation.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					AGGTGGGGGAGGGCCGCTCTG	0.522000			T	"""SSX1,  SSX2"""	synovial sarcoma								28	175					0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44474158	44474158	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:44474158T>A	ENST00000372310.3	-	5	622	c.457A>T	c.(457-459)Acg>Tcg	p.T153S	SLC6A9_ENST00000372306.3_Missense_Mutation_p.T153S|SLC6A9_ENST00000475075.2_Missense_Mutation_p.T42S|SLC6A9_ENST00000372307.3_Missense_Mutation_p.T88S|SLC6A9_ENST00000360584.2_Missense_Mutation_p.T226S|SLC6A9_ENST00000537678.1_Missense_Mutation_p.T88S|SLC6A9_ENST00000357730.2_Missense_Mutation_p.T172S	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	226						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CAGTCATGCGTGTTCCAGGGG	0.592000													33	54					0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921680	247921680	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:247921680C>T	ENST00000408896.2	-	1	302	c.29G>A	c.(28-30)aGg>aAg	p.R10K		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GACGAATTCCCTGACAACTGT	0.408000													16	6					0	0	1	0	0
FAM169A	26049	broad.mit.edu	37	5	74109689	74109689	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:74109689G>A	ENST00000389156.4	-	6	736	c.646C>T	c.(646-648)Cca>Tca	p.P216S	FAM169A_ENST00000510496.1_Intron|FAM169A_ENST00000380515.3_3'UTR	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	216										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						GAAGACAGTGGATACCGCAAG	0.363000													27	55					0	0	1	0	0
SHC4	399694	broad.mit.edu	37	15	49254847	49254847	+	Silent	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr15:49254847G>A	ENST00000332408.4	-	1	794	c.366C>T	c.(364-366)agC>agT	p.S122S		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	122	CH2.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		CTGGGTCCCGGCTTTCCTGGA	0.597000													19	48					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52613197	52613197	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:52613197C>A	ENST00000356770.4	-	20	3312	c.3310G>T	c.(3310-3312)Gtg>Ttg	p.V1104L	PBRM1_ENST00000409114.3_Missense_Mutation_p.V1151L|PBRM1_ENST00000394830.3_Missense_Mutation_p.V1111L|PBRM1_ENST00000409057.1_Missense_Mutation_p.V1136L|PBRM1_ENST00000337303.4_Missense_Mutation_p.V1136L|PBRM1_ENST00000410007.1_Missense_Mutation_p.V1111L|SMIM4_ENST00000476842.1_3'UTR|PBRM1_ENST00000296302.7_Missense_Mutation_p.V1136L|PBRM1_ENST00000409767.1_Missense_Mutation_p.V1151L			Q86U86	PB1_HUMAN	polybromo 1	1136					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GACATTTCCACAGGGACATCT	0.423000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								38	9					1.96642e-18	2.63849e-18	1	1	0
VWCE	220001	broad.mit.edu	37	11	61032011	61032011	+	Silent	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:61032011C>A	ENST00000335613.5	-	19	2564	c.2178G>T	c.(2176-2178)cgG>cgT	p.R726R	VWCE_ENST00000535710.1_Silent_p.R191R	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	726	VWFC 6.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CGGCACAGGCCCGCTGGCAGG	0.617000													5	10					0.014758	0.0151584	1	1	0
DIDO1	11083	broad.mit.edu	37	20	61528097	61528097	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr20:61528097C>T	ENST00000266070.4	-	7	2165	c.1840G>A	c.(1840-1842)Gcc>Acc	p.A614T	DIDO1_ENST00000395343.1_Missense_Mutation_p.A614T|DIDO1_ENST00000395335.2_Missense_Mutation_p.A614T|DIDO1_ENST00000395340.1_Missense_Mutation_p.A614T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	614					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCCGGTCCGGCCTGCCTGGCA	0.617000													47	61					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166986968	166986968	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:166986968C>T	ENST00000061240.2	+	16	2788	c.2141C>T	c.(2140-2142)tCt>tTt	p.S714F	TLL1_ENST00000507499.1_Missense_Mutation_p.S737F	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	714	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.S714C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GAATTCAAATCTGACAATACT	0.388000													30	57					0	0	1	0	0
HOXB5	3215	broad.mit.edu	37	17	46669598	46669598	+	Silent	SNP	A	A	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:46669598A>T	ENST00000239151.5	-	2	1061	c.783T>A	c.(781-783)gcT>gcA	p.A261A	HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB3_ENST00000552000.2_Intron	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	261						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						TGCCAGCTGTAGCCAGGCTCA	0.637000													44	83					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179702443	179702443	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:179702443C>A	ENST00000420890.2	-	23	3620	c.3503G>T	c.(3502-3504)gGc>gTc	p.G1168V	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.G593V	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	593							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCCATTGATGCCCAAAAGATC	0.468000													27	48					2.49534e-26	3.54566e-26	1	1	0
RAB11FIP1	80223	broad.mit.edu	37	8	37729787	37729787	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr8:37729787C>A	ENST00000330843.4	-	4	2545	c.2533G>T	c.(2533-2535)Gct>Tct	p.A845S	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	845					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GCGTTTCCAGCAACAGACCAT	0.622000													81	24					5.00163e-47	7.40465e-47	1	1	0
NPY1R	4886	broad.mit.edu	37	4	164247135	164247135	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:164247135G>T	ENST00000296533.2	-	2	1103	c.572C>A	c.(571-573)gCg>gAg	p.A191E	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	191					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTCTTTGTACGCATCAAGTGT	0.433000													28	31					1.17739e-12	1.47872e-12	1	1	0
NRXN3	9369	broad.mit.edu	37	14	79181141	79181141	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr14:79181141G>A	ENST00000554719.1	+	5	1075	c.584G>A	c.(583-585)aGt>aAt	p.S195N	NRXN3_ENST00000335750.5_Missense_Mutation_p.S195N	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	201	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TTCACCGCCAGTGGGGAGAGC	0.572000													79	43					0	0	1	0	0
TBL1XR1	79718	broad.mit.edu	37	3	176744174	176744174	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:176744174G>A	ENST00000430069.1	-	15	1764	c.1505C>T	c.(1504-1506)gCa>gTa	p.A502V	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.A502V			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	502					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			ACCATCTGATGCACTGGCTCC	0.418000													9	16					0	0	1	0	0
ECSIT	51295	broad.mit.edu	37	19	11624045	11624045	+	Silent	SNP	T	T	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:11624045T>C	ENST00000270517.7	-	4	699	c.564A>G	c.(562-564)ggA>ggG	p.G188G	ECSIT_ENST00000252440.7_Silent_p.G188G|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000591104.1_Silent_p.G188G|ECSIT_ENST00000592312.1_Silent_p.G72G|ECSIT_ENST00000591352.1_Intron	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	188					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						AGCTTTTGCGTCCAAAGATCT	0.587000													16	31					0	0	1	0	0
GABPB1	2553	broad.mit.edu	37	15	50570858	50570858	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr15:50570858G>C	ENST00000380877.3	-	9	1546	c.1123C>G	c.(1123-1125)Cgt>Ggt	p.R375G	GABPB1_ENST00000220429.8_Missense_Mutation_p.R387G|GABPB1_ENST00000543881.1_Missense_Mutation_p.R311G	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	387					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						GTCTGAAGACGAGTCATAGCT	0.373000													5	112					0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36597586	36597586	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:36597586A>T	ENST00000299440.5	+	2	2844	c.2732A>T	c.(2731-2733)cAg>cTg	p.Q911L		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	911					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TCCCTCTGCCAGTACAGTTTC	0.463000									Familial Hemophagocytic Lymphohistiocytosis				24	39					0	0	1	0	0
CALCB	797	broad.mit.edu	37	11	15098958	15098958	+	Silent	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:15098958C>A	ENST00000523376.1	+	9	1646	c.384C>A	c.(382-384)gcC>gcA	p.A128A	CALCB_ENST00000324229.6_Silent_p.A117A|CALCB_ENST00000533448.1_Silent_p.A117A			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	117					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						GTTCCAAAGCCTTTGGCAGGC	0.557000													10	20					0.0931896	0.0944368	1	1	0
ULK1	8408	broad.mit.edu	37	12	132396562	132396562	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:132396562C>T	ENST00000321867.4	+	13	1375	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	342	Interaction with GABARAP and GABARAPL2.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GCACAGCTCCCGGGACTCTGG	0.652000													14	18					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30748559	30748559	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr16:30748559C>G	ENST00000262518.4	+	34	7583	c.7198C>G	c.(7198-7200)Cgt>Ggt	p.R2400G	SRCAP_ENST00000395059.2_Missense_Mutation_p.R2338G|SRCAP_ENST00000344771.4_Missense_Mutation_p.R2242G	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2400					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGAGCGTCTTCGTGGAGCCCG	0.627000													26	33					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201036040	201036040	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:201036040C>A	ENST00000362061.3	-	20	2858	c.2632G>T	c.(2632-2634)Gtg>Ttg	p.V878L	CACNA1S_ENST00000367338.3_Missense_Mutation_p.V878L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	878					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATGAGGGACACGGCCACCACC	0.607000													11	22					0.000978159	0.00102253	1	1	0
MARK4	57787	broad.mit.edu	37	19	45790802	45790802	+	Silent	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:45790802C>T	ENST00000300843.4	+	13	1671	c.1374C>T	c.(1372-1374)agC>agT	p.S458S	MARK4_ENST00000262891.4_Silent_p.S458S	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	458					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGAAGGCGAGCTGCAGCACCG	0.716000													10	4					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108339127	108339127	+	Splice_Site	SNP	C	C	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:108339127C>G	ENST00000263054.6	-	25	3378	c.3371_splice	c.e25+1	p.R1124_splice	SORCS1_ENST00000369698.1_Splice_Site_p.R659_splice|SORCS1_ENST00000344440.6_Splice_Site_p.R1124_splice	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1124						integral to membrane	neuropeptide receptor activity|protein binding	p.R1124M(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GGACACGCACCTTTTAAACTT	0.532000													16	32					0	0	1	0	0
SERPINE1	5054	broad.mit.edu	37	7	100776987	100776987	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:100776987A>G	ENST00000223095.4	+	5	869	c.712A>G	c.(712-714)Acg>Gcg	p.T238A	SERPINE1_ENST00000445463.2_Missense_Mutation_p.T223A	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	238					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	TGAGTTCACCACGCCCGATGG	0.547000													38	43					0	0	1	0	0
KLHL35	283212	broad.mit.edu	37	11	75139659	75139659	+	Silent	SNP	T	T	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:75139659T>G	ENST00000539798.1	-	2	893	c.894A>C	c.(892-894)ctA>ctC	p.L298L	KLHL35_ENST00000376292.4_Silent_p.L78L	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN	kelch-like family member 35	78										lung(2)|stomach(1)	3						TCACTTCAGCTAGGTCCATGA	0.627000													7	31					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177226509	177226509	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:177226509G>T	ENST00000361539.4	+	4	970	c.658G>T	c.(658-660)Ggg>Tgg	p.G220W	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		220						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GATAGCCACGGGGGCCATCAA	0.607000													8	8					0.0581538	0.059045	1	1	0
ANK1	286	broad.mit.edu	37	8	41529901	41529901	+	Silent	SNP	C	C	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr8:41529901C>G	ENST00000396942.1	-	38	5150	c.5067G>C	c.(5065-5067)gtG>gtC	p.V1689V	ANK1_ENST00000396945.1_Silent_p.V1689V|ANK1_ENST00000347528.4_Silent_p.V1689V|ANK1_ENST00000289734.7_Silent_p.V1689V|ANK1_ENST00000352337.4_Silent_p.V1689V|ANK1_ENST00000379758.2_Silent_p.V1689V|ANK1_ENST00000265709.8_Silent_p.V1730V			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1689	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCACCTGACTCACGGTGGGGG	0.562000													43	201					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9434014	9434014	+	Silent	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr20:9434014G>A	ENST00000378501.2	+	29	2880	c.2865G>A	c.(2863-2865)aaG>aaA	p.K955K	PLCB4_ENST00000378493.1_Silent_p.K955K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Silent_p.K955K|PLCB4_ENST00000278655.4_Silent_p.K955K|PLCB4_ENST00000378473.3_Silent_p.K967K|PLCB4_ENST00000414679.2_Silent_p.K967K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	955					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CCATGCAGAAGTTACACTGCA	0.428000													17	35					0	0	1	0	0
KBTBD11	9920	broad.mit.edu	37	8	1950697	1950697	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr8:1950697G>T	ENST00000320248.3	+	2	2305	c.1339G>T	c.(1339-1341)Gcc>Tcc	p.A447S		NM_014867.2	NP_055682.1	O94819	KBTBB_HUMAN	kelch repeat and BTB (POZ) domain containing 11	447										lung(1)|pancreas(1)	2		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.72e-05)|READ - Rectum adenocarcinoma(644;0.0929)|COAD - Colon adenocarcinoma(149;0.134)		gggcgccTTCGCCGTGGCGCA	0.736000													3	3					0.115264	0.116584	1	1	0
TTN	7273	broad.mit.edu	37	2	179497260	179497260	+	Silent	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:179497260G>A	ENST00000589042.1	-	235	43697	c.43473C>T	c.(43471-43473)atC>atT	p.I14491I	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.I5551I|TTN_ENST00000460472.2_Silent_p.I5426I|TTN_ENST00000342175.6_Silent_p.I5618I|TTN_ENST00000342992.6_Silent_p.I11923I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.I12850I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12850	Fibronectin type-III 4.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACCTTCAATGATCAGTTTGC	0.323000													11	44					0	0	1	0	0
UHRF1	29128	broad.mit.edu	37	19	4910983	4910983	+	RNA	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:4910983G>A	ENST00000592666.1	+	0	662							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GAGGAGCTGAGGCGGAAGATC	0.627000											OREG0025176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	66					0	0	1	0	0
P2RY13	53829	broad.mit.edu	37	3	151046055	151046055	+	Silent	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:151046055G>A	ENST00000325602.5	-	2	808	c.789C>T	c.(787-789)gtC>gtT	p.V263V	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	263						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			ACACAAAGAAGACAGCCACGA	0.343000													34	41					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66905881	66905881	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:66905881A>T	ENST00000374690.3	+	3	2322	c.1798A>T	c.(1798-1800)Aat>Tat	p.N600Y	AR_ENST00000504326.1_Missense_Mutation_p.N600Y|AR_ENST00000396043.2_Missense_Mutation_p.N68Y|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.N600Y	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	599	Interaction with HIPK3 (By similarity).				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CGCCAGCAGAAATGATTGCAC	0.408000									Androgen Insensitivity Syndrome				22	7					0	0	1	0	0
MYEOV	26579	broad.mit.edu	37	11	69063226	69063226	+	Silent	SNP	T	T	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:69063226T>A	ENST00000535407.1	+	2	778	c.135T>A	c.(133-135)gcT>gcA	p.A45A	MYEOV_ENST00000308946.3_Silent_p.A103A|MYEOV_ENST00000441339.2_Silent_p.A103A			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	103										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		CTGCTGGAGCTGGTGACCGGG	0.647000													49	58					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746670	77746670	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:77746670G>A	ENST00000409088.3	-	3	739	c.325C>T	c.(325-327)Cgt>Tgt	p.R109C	LRRTM4_ENST00000409884.1_Missense_Mutation_p.R109C|LRRTM4_ENST00000409093.1_Missense_Mutation_p.R109C|LRRTM4_ENST00000409911.1_Missense_Mutation_p.R110C|LRRTM4_ENST00000409282.1_Missense_Mutation_p.R110C	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	109						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TTCAGTCTACGGATCCCTTGA	0.398000													12	38					0	0	1	0	0
MSX1	4487	broad.mit.edu	37	4	4864566	4864566	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:4864566C>A	ENST00000382723.4	+	2	842	c.608C>A	c.(607-609)gCg>gAg	p.A203E	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	197					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCCGAGCGCGCGGAGTTCTCC	0.627000													30	43					2.65835e-16	3.47025e-16	1	1	0
GRM1	2911	broad.mit.edu	37	6	146755255	146755255	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:146755255C>A	ENST00000361719.2	+	9	3378	c.2908C>A	c.(2908-2910)Ccg>Acg	p.P970T	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P970T|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	970					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TCGCTTTAGCCCGCCTGGTAG	0.617000													39	81					1.60099e-16	2.1003e-16	1	1	0
RAB3D	9545	broad.mit.edu	37	19	11436084	11436084	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:11436084C>A	ENST00000222120.3	-	5	910	c.650G>T	c.(649-651)tGc>tTc	p.C217F	RAB3D_ENST00000589655.1_Missense_Mutation_p.C217F|TSPAN16_ENST00000316737.1_Intron	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	217					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						CTAGCAGCTGCAGCTGCTGGG	0.657000													8	6					0.0381472	0.0389557	1	1	0
CFAP221	200373	broad.mit.edu	37	2	120395992	120395992	+	Splice_Site	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:120395992C>T	ENST00000602047.1	+	21	2386	c.1275_splice	c.e21+1	p.T425_splice	PCDP1_ENST00000413369.3_Splice_Site_p.T711_splice			Q4G0U5	PCDP1_HUMAN		711						cilium	calmodulin binding					Colorectal(110;0.196)					CTCCATCACACGGTAATGTCA	0.537000													33	62					0	0	1	0	0
ABCB6	10058	broad.mit.edu	37	2	220079138	220079138	+	Silent	SNP	T	T	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:220079138T>A	ENST00000265316.3	-	7	1675	c.1359A>T	c.(1357-1359)gcA>gcT	p.A453A	ABCB6_ENST00000439002.2_Silent_p.A407A	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	453	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGAGTCCACTGCTCGTGCCC	0.577000													25	37					0	0	1	0	0
SLC35B4	84912	broad.mit.edu	37	7	133979788	133979788	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:133979788C>A	ENST00000378509.4	-	10	1092	c.793G>T	c.(793-795)Gcc>Tcc	p.A265S	SLC35B4_ENST00000466599.1_Intron	NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4	265						Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						GTGAGGGAGGCGCATTCTGTG	0.532000													69	125					2.97844e-56	4.45925e-56	1	1	0
EDA	1896	broad.mit.edu	37	X	68836326	68836326	+	Missense_Mutation	SNP	G	G	C	rs41539891		TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:68836326G>C	ENST00000374552.4	+	1	416	c.174G>C	c.(172-174)ttG>ttC	p.L58F	EDA_ENST00000527388.1_Missense_Mutation_p.L58F|EDA_ENST00000525810.1_Missense_Mutation_p.L58F|EDA_ENST00000502251.1_3'UTR|EDA_ENST00000524573.1_Missense_Mutation_p.L58F|EDA_ENST00000374553.2_Missense_Mutation_p.L58F|EDA_ENST00000338901.3_Missense_Mutation_p.L58F	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	58					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						TGCTGACGTTGTGCTGCTACC	0.692000													23	11					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113529397	113529397	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr8:113529397C>A	ENST00000297405.5	-	28	4866	c.4622G>T	c.(4621-4623)gGg>gTg	p.G1541V	CSMD3_ENST00000455883.2_Missense_Mutation_p.G1437V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1541V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1501V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1541	Sushi 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTTCCATCCCCATTTCGAGT	0.448000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	24					2.74318e-10	3.27452e-10	1	1	0
CLSTN2	64084	broad.mit.edu	37	3	140277487	140277487	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr3:140277487T>C	ENST00000458420.3	+	12	2019	c.1829T>C	c.(1828-1830)tTt>tCt	p.F610S		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	610					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCCAGGTGCTTTGGGGAAGAC	0.527000										HNSCC(16;0.037)			18	37					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54428145	54428145	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:54428145G>A	ENST00000566473.2	+	4	216	c.216G>A	c.(214-216)atG>atA	p.M72I	ANKFN1_ENST00000318698.2_Missense_Mutation_p.M72I			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	72										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GTGTGAAAATGACGCAACAAA	0.388000													49	46					0	0	1	0	0
USP1	7398	broad.mit.edu	37	1	62910842	62910842	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:62910842T>A	ENST00000339950.4	+	6	1806	c.991T>A	c.(991-993)Tca>Aca	p.S331T	USP1_ENST00000371146.1_Missense_Mutation_p.S331T	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	331					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		TCCAAGACCCTCACAAAAGAA	0.323000													33	31					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33585111	33585111	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:33585111G>T	ENST00000170564.2	+	5	803	c.489G>T	c.(487-489)atG>atT	p.M163I		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	163	G-patch.					catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TAAGAAAAATGGGTTGGAAAG	0.383000													12	38					6.40141e-05	6.79909e-05	1	1	0
C1QTNF2	114898	broad.mit.edu	37	5	159781811	159781811	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:159781811C>A	ENST00000393975.3	-	2	346	c.343G>T	c.(343-345)Gga>Tga	p.G115*		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	70	Collagen-like.					collagen		p.G115R(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCGTCGTGTCCATCTTGGCCG	0.677000													17	6					1.01871e-10	1.2243e-10	1	1	0
UGT2B17	7367	broad.mit.edu	37	4	69433850	69433850	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:69433850C>A	ENST00000317746.2	-	1	395	c.353G>T	c.(352-354)tGg>tTg	p.W118L		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	118					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						AGAATATTCCCAACACAATTC	0.294000													46	87					6.21074e-16	8.02852e-16	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152772324	152772324	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:152772324G>T	ENST00000367255.5	-	26	3645	c.3044C>A	c.(3043-3045)gCc>gAc	p.A1015D	SYNE1_ENST00000341594.5_Missense_Mutation_p.A1081D|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1015D|SYNE1_ENST00000413186.2_Missense_Mutation_p.A1015D|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1015D|SYNE1_ENST00000367248.3_Missense_Mutation_p.A1005D|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1022D|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1022D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1015					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGATAAGGGGCTTCTCCTTG	0.393000										HNSCC(10;0.0054)			19	42					6.94344e-10	8.19605e-10	1	1	0
SUPT6H	6830	broad.mit.edu	37	17	27013800	27013800	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr17:27013800A>T	ENST00000314616.6	+	21	2976	c.2693A>T	c.(2692-2694)aAg>aTg	p.K898M	SUPT6H_ENST00000347486.4_Missense_Mutation_p.K898M	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	898					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AACAGCAAGAAGTCAGAGGTA	0.488000													22	40					0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186648537	186648537	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:186648537C>T	ENST00000367468.5	-	2	222	c.86G>A	c.(85-87)cGa>cAa	p.R29Q	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	29	EGF-like.				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	ACATACACCTCGGTTTTGACA	0.388000													24	7					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140754340	140754340	+	Silent	SNP	A	A	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:140754340A>G	ENST00000517434.1	+	1	690	c.690A>G	c.(688-690)gtA>gtG	p.V230V	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATTCTGGTAACAGTTCTAG	0.542000													10	22					0	0	1	0	0
LST3	0	broad.mit.edu	37	12	21205184	21205184	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:21205184A>G	ENST00000381541.3	+	10	1551	c.1486A>G	c.(1486-1488)Aaa>Gaa	p.K496E	SLCO1B7_ENST00000421593.2_Missense_Mutation_p.K449E|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.K496E|SLCO1B3_ENST00000553473.1_Intron																							AAGTGGTAATAAAGAGCCCAT	0.353000													116	56					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11450926	11450926	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:11450926C>A	ENST00000423059.3	-	19	3957	c.3706G>T	c.(3706-3708)Gag>Tag	p.E1236*	AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1236	TSP type-1 12.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACTGCCTTCTCACTCAGCTGA	0.413000										HNSCC(18;0.044)			13	35					7.03913e-09	8.07519e-09	1	1	0
NDN	4692	broad.mit.edu	37	15	23931740	23931740	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr15:23931740C>T	ENST00000331837.4	-	1	710	c.625G>A	c.(625-627)Gcc>Acc	p.A209T		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	209	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TTCCAGACGGCGCTCTCTCTG	0.637000									Prader-Willi syndrome				20	57					0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145610481	145610481	+	Splice_Site	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:145610481G>A	ENST00000265271.5	+	6	1016		c.e6+1		RBM27_ENST00000506502.1_Splice_Site	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27						mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATTATGATGGTAAAAATCAC	0.348000													29	10					0	0	1	0	0
GLRA3	8001	broad.mit.edu	37	4	175649783	175649783	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:175649783G>C	ENST00000274093.3	-	4	836	c.334C>G	c.(334-336)Cct>Gct	p.P112A	GLRA3_ENST00000340217.5_Missense_Mutation_p.P112A|GLRA3_ENST00000436738.1_5'UTR	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	112					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GAGTCGTCAGGATATTCACTG	0.398000													36	54					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11500374	11500374	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:11500374C>A	ENST00000423059.3	-	11	2771	c.2520G>T	c.(2518-2520)tgG>tgT	p.W840C	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	840						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGCATCTGCGCCATTTGTGAG	0.547000										HNSCC(18;0.044)			4	6					0.150653	0.151799	1	1	0
EYA1	2138	broad.mit.edu	37	8	72246403	72246403	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr8:72246403G>C	ENST00000340726.3	-	4	770	c.131C>G	c.(130-132)aCa>aGa	p.T44R	EYA1_ENST00000388741.2_Missense_Mutation_p.T11R|EYA1_ENST00000388740.3_Missense_Mutation_p.T11R|EYA1_ENST00000388742.4_Missense_Mutation_p.T44R|EYA1_ENST00000388743.2_Missense_Mutation_p.T44R|EYA1_ENST00000303824.7_Missense_Mutation_p.T44R|EYA1_ENST00000419131.1_Missense_Mutation_p.T44R	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	44					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CATTGGCTCTGTTTTAACTAC	0.328000													17	38					0	0	1	0	0
GUF1	60558	broad.mit.edu	37	4	44680664	44680664	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:44680664T>A	ENST00000281543.5	+	1	219	c.25T>A	c.(25-27)Tgg>Agg	p.W9R	GUF1_ENST00000506793.1_Intron	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	9					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						GGGTCGGGGCTGGGGGTGCGC	0.711000													4	7					0	0	1	0	0
TUBAL3	79861	broad.mit.edu	37	10	5435740	5435740	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:5435740C>A	ENST00000380419.3	-	4	1118	c.1081G>T	c.(1081-1083)Ggc>Tgc	p.G361C	TUBAL3_ENST00000479328.1_Missense_Mutation_p.G321C	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	361					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						TTGTTGATGCCCACCTTGAAA	0.582000													24	17					1.85244e-09	2.16254e-09	1	1	0
RAG1	5896	broad.mit.edu	37	11	36595864	36595864	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:36595864C>T	ENST00000299440.5	+	2	1122	c.1010C>T	c.(1009-1011)cCt>cTt	p.P337L		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	337					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CCATGCTTCCCTACTGACCTG	0.493000									Familial Hemophagocytic Lymphohistiocytosis				18	53					0	0	1	0	0
CCDC181	57821	broad.mit.edu	37	1	169391453	169391453	+	Silent	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:169391453C>T	ENST00000545005.1	-	4	723	c.216G>A	c.(214-216)ttG>ttA	p.L72L	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Silent_p.L72L|CCDC181_ENST00000367805.3_Silent_p.L72L					coiled-coil domain containing 181																		CCTCATCCTGCAAAGATTTGT	0.403000													10	30					0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8115940	8115940	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:8115940C>T	ENST00000379328.3	+	6	1857	c.1289C>T	c.(1288-1290)tCc>tTc	p.S430F	GATA3_ENST00000346208.3_Missense_Mutation_p.S429F|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	429					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCCAGCCTGTCCTTTGGACCA	0.642000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						27	56					0	0	1	0	0
GAPT	202309	broad.mit.edu	37	5	57790833	57790833	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:57790833A>T	ENST00000396776.2	+	3	932	c.470A>T	c.(469-471)tAt>tTt	p.Y157F	GAPT_ENST00000318469.2_Missense_Mutation_p.Y157F	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	157					B cell activation	integral to membrane|plasma membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CCAGATTCATATTAGCTTTTC	0.313000													11	18					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71797013	71797013	+	Silent	SNP	C	C	A	rs148531939		TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:71797013C>A	ENST00000258104.3	+	27	3151	c.2874C>A	c.(2872-2874)acC>acA	p.T958T	DYSF_ENST00000410020.3_Silent_p.T976T|DYSF_ENST00000409762.1_Silent_p.T975T|DYSF_ENST00000429174.2_Silent_p.T958T|DYSF_ENST00000409744.1_Silent_p.T945T|DYSF_ENST00000394120.2_Silent_p.T959T|DYSF_ENST00000409582.3_Silent_p.T975T|DYSF_ENST00000409366.1_Silent_p.T959T|DYSF_ENST00000410041.1_Silent_p.T976T|DYSF_ENST00000413539.2_Silent_p.T989T|DYSF_ENST00000409651.1_Silent_p.T990T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	958						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGAACCAGACCCGGCTTCCCG	0.577000													6	15					6.5536e-12	8.11544e-12	1	1	0
OR5D14	219436	broad.mit.edu	37	11	55563356	55563356	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:55563356G>A	ENST00000335605.1	+	1	325	c.325G>A	c.(325-327)Gct>Act	p.A109T		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTCCTGCACTGCTGTGGTGAC	0.488000													17	30					0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159558302	159558302	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:159558302A>G	ENST00000255040.2	+	2	573	c.476A>G	c.(475-477)tAt>tGt	p.Y159C		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	159	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					CAGGATTCCTATGGGGGCAAG	0.498000													43	4					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37756684	37756684	+	Silent	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr8:37756684C>T	ENST00000330843.4	-	1	288	c.276G>A	c.(274-276)gtG>gtA	p.V92V	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Silent_p.V92V	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	92	C2.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CGCGGTGCAGCACGGTGAGCT	0.741000													16	5					0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3599605	3599605	+	Silent	SNP	G	G	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:3599605G>C	ENST00000302006.3	+	2	595	c.543G>C	c.(541-543)gcG>gcC	p.A181A	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	181						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A181A(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TCGCCAACGCGCGCCGGCGCC	0.632000													41	47					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89068480	89068480	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr8:89068480T>A	ENST00000286614.6	-	8	1530	c.1249A>T	c.(1249-1251)Aca>Tca	p.T417S		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	417	Hemopexin-like 2.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TGAAGAGTTGTATCCTTGAAC	0.358000													28	31					0	0	1	0	0
YIPF7	285525	broad.mit.edu	37	4	44638095	44638095	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:44638095C>T	ENST00000332990.5	-	3	212	c.196G>A	c.(196-198)Gct>Act	p.A66T		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	66						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						TGCTCACCAGCTTGTTGTCTA	0.383000													7	21					0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118969760	118969760	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:118969760G>A	ENST00000334549.1	+	3	1105	c.1105G>A	c.(1105-1107)Gtt>Att	p.V369I		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	369						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		ATACAAAAATGTTATGCTATT	0.378000													35	46					0	0	1	0	0
KANSL1L	151050	broad.mit.edu	37	2	210968871	210968871	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:210968871G>A	ENST00000281772.9	-	4	1648	c.1385C>T	c.(1384-1386)tCa>tTa	p.S462L	KANSL1L_ENST00000452086.1_Missense_Mutation_p.S462L|KANSL1L_ENST00000457374.1_Missense_Mutation_p.S462L|KANSL1L_ENST00000418791.1_Missense_Mutation_p.S462L	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	462																	GCTGCTTGGTGACATTTCAAA	0.393000													12	24					0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55363640	55363640	+	Silent	SNP	C	C	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr19:55363640C>A	ENST00000326321.3	+	3	291	c.258C>A	c.(256-258)acC>acA	p.T86T	KIR3DL2_ENST00000270442.5_Silent_p.T86T|KIR3DL1_ENST00000402254.2_Intron	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	86	Ig-like C2-type 1.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GCCCTGTGACCCCAGCACATG	0.557000													23	4					9.62906e-15	1.22678e-14	1	1	0
BANF2	140836	broad.mit.edu	37	20	17705719	17705719	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr20:17705719G>C	ENST00000246090.5	+	3	311	c.49G>C	c.(49-51)Gga>Cga	p.G17R	BANF2_ENST00000377805.3_Missense_Mutation_p.G17R|BANF2_ENST00000545418.2_Missense_Mutation_p.G24R	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN	barrier to autointegration factor 2	17						cytoplasm|nucleus	DNA binding			large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						CGAACCCATTGGAGAAAAGGA	0.488000													19	50					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79028981	79028981	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:79028981G>A	ENST00000446378.2	+	2	4424	c.4393G>A	c.(4393-4395)Gcc>Acc	p.A1465T		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1465						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAAGTAGAAGCCAAAGAAGT	0.378000													17	38					0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223568415	223568415	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:223568415G>A	ENST00000366875.3	+	1	1701	c.1598G>A	c.(1597-1599)cGg>cAg	p.R533Q		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	533										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CAGCACCTCCGGGAGCTCAAC	0.532000													70	11					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167330398	167330398	+	Splice_Site	SNP	G	G	C			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:167330398G>C	ENST00000409855.1	-	4	480	c.353_splice	c.e4-1	p.P118_splice		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	118					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GTTGGAAAAAGGTAGCTTATA	0.259000													11	18					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38448428	38448428	+	Silent	SNP	G	G	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:38448428G>A	ENST00000322350.5	+	18	2836	c.2490G>A	c.(2488-2490)ccG>ccA	p.P830P	EGFLAM_ENST00000514476.1_5'UTR|EGFLAM_ENST00000336740.6_Silent_p.P596P|EGFLAM_ENST00000354891.3_Silent_p.P838P|EGFLAM_ENST00000397202.2_Silent_p.P196P|EGFLAM_ENST00000397210.3_5'UTR|EGFLAM_ENST00000506135.1_5'UTR	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	838						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)					TTGAGATCCCGCAGTTTATCG	0.473000													53	85					0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45307563	45307563	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:45307563delC	ENST00000447098.2	-	2	232	c.221delG	c.(220-222)ccfs	p.R74fs	PTCH2_ENST00000372192.3_Frame_Shift_Del_p.R74fs	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	74					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					AATGGCCATGCGGAGACCTAA	0.537									Basal Cell Nevus syndrome				46	61	---	---	---	---					
JAK1	3716	broad.mit.edu	37	1	65316496	65316497	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:65316496_65316497delAT	ENST00000342505.4	-	12	1993_1994	c.1745_1746delAT	c.(1744-1746)gfs	p.D582fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	582					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		CCTGCACCAGATCCTTCTTGAG	0.589			Mis		ALL								9	10	---	---	---	---					
CRB1	23418	broad.mit.edu	37	1	197390841	197390841	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:197390841delT	ENST00000367397.1	+	2	884	c.26delT	c.(25-27)ctfs	p.L9fs	CRB1_ENST00000535699.1_Frame_Shift_Del_p.L559fs|CRB1_ENST00000367400.3_Frame_Shift_Del_p.L628fs|CRB1_ENST00000367399.2_Frame_Shift_Del_p.L516fs|CRB1_ENST00000538660.1_Frame_Shift_Del_p.L628fs|CRB1_ENST00000544212.1_Frame_Shift_Del_p.L109fs|CRB1_ENST00000543483.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	628					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GTTGCTCTGCTTAACTTCTAT	0.428													79	21	---	---	---	---					
RGS7	6000	broad.mit.edu	37	1	241031928	241031929	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:241031928_241031929insA	ENST00000366565.1	-	9	948_949	c.567_568insT	c.(565-570)ctacagfs	p.Q190fs	RGS7_ENST00000366563.1_Frame_Shift_Ins_p.Q190fs|RGS7_ENST00000348120.2_Frame_Shift_Ins_p.Q137fs|RGS7_ENST00000446183.2_Frame_Shift_Ins_p.Q106fs|RGS7_ENST00000366562.4_Frame_Shift_Ins_p.Q190fs|RGS7_ENST00000366564.1_Frame_Shift_Ins_p.Q190fs|RGS7_ENST00000407727.1_Frame_Shift_Ins_p.Q190fs|RGS7_ENST00000401882.1_Frame_Shift_Ins_p.Q137fs|RGS7_ENST00000331110.7_Frame_Shift_Ins_p.Q164fs	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	190					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCTTGGCTGTCAAGGATCTTCC	0.465													79	17	---	---	---	---					
OR2M2	391194	broad.mit.edu	37	1	248343571	248343571	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr1:248343571delC	ENST00000359682.2	+	1	284	c.284delC	c.(283-285)gtfs	p.A95fs		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTTCTATGGCTGGTTGTGTC	0.463													83	337	---	---	---	---					
MAP4K3	8491	broad.mit.edu	37	2	39499427	39499427	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr2:39499427delG	ENST00000263881.3	-	26	2294	c.1970delC	c.(1969-1971)cafs	p.P657fs	MAP4K3_ENST00000536018.1_Frame_Shift_Del_p.P210fs|MAP4K3_ENST00000341681.5_Frame_Shift_Del_p.P636fs|MAP4K3_ENST00000437545.1_Frame_Shift_Del_p.P573fs	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	657	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CCCTTACCTTGGCAGTATTCT	0.358													16	36	---	---	---	---					
GPRIN3	285513	broad.mit.edu	37	4	90169364	90169364	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:90169364delC	ENST00000333209.3	-	2	2416	c.1898delG	c.(1897-1899)ccfs	p.R634fs		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	634										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GCTGGGCCTGCGTGGGCTGGC	0.572													35	71	---	---	---	---					
GRID2	2895	broad.mit.edu	37	4	94411878	94411878	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr4:94411878delG	ENST00000282020.4	+	12	2205	c.1947delG	c.(1945-1947)acfs	p.T649fs	GRID2_ENST00000510992.1_Frame_Shift_Del_p.T554fs	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	649					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CATCTTACACGGCAAACCTCG	0.438													38	63	---	---	---	---					
MAST4	375449	broad.mit.edu	37	5	66459668	66459668	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr5:66459668delC	ENST00000404260.3	+	29	4978	c.4670delC	c.(4669-4671)tcfs	p.S1557fs	MAST4_ENST00000261569.7_Frame_Shift_Del_p.S1360fs|MAST4_ENST00000405643.1_Frame_Shift_Del_p.S1375fs|MAST4_ENST00000403625.2_Frame_Shift_Del_p.S1554fs|MAST4_ENST00000403666.1_Frame_Shift_Del_p.S1365fs			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1557						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CACCAGAAATCCCATGGACCC	0.507													14	27	---	---	---	---					
C6orf120	387263	broad.mit.edu	37	6	170102778	170102784	+	Frame_Shift_Del	DEL	GATGCGG	GATGCGG	-			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr6:170102778_170102784delGATGCGG	ENST00000332290.2	+	1	522_528	c.223_229delGATGCGG	c.(223-231)atfs	p.DAD75fs	C6orf120_ENST00000439249.1_Frame_Shift_Del_p.DAD94fs	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120	75						extracellular region				endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		CCTCAAGGGAGATGCGGATCTGTACGT	0.652													11	28	---	---	---	---					
OR6V1	346517	broad.mit.edu	37	7	142750181	142750181	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr7:142750181delC	ENST00000418316.1	+	1	765	c.744delC	c.(742-744)atfs	p.I248fs		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TGGTCTTCATCGGCTACAGTA	0.552													52	86	---	---	---	---					
SLC26A7	115111	broad.mit.edu	37	8	92378866	92378867	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr8:92378866_92378867insA	ENST00000276609.3	+	14	1786_1787	c.1547_1548insA	c.(1546-1548)gaafs	p.E516fs	SLC26A7_ENST00000309536.2_Frame_Shift_Ins_p.E516fs|SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Frame_Shift_Ins_p.E516fs	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	516	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTCCTGAATGCAAAAAAATTTT	0.347													21	30	---	---	---	---					
TSPYL5	85453	broad.mit.edu	37	8	98289722	98289722	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr8:98289722delG	ENST00000322128.3	-	1	454	c.351delC	c.(349-351)gcfs	p.A118fs		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	118					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					CAGTGTCTGCGGCCAGGCGCT	0.731													8	14	---	---	---	---					
CSMD3	114788	broad.mit.edu	37	8	113249444	113249445	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr8:113249444_113249445insT	ENST00000297405.5	-	67	10845_10846	c.10601_10602insA	c.(10600-10602)aagfs	p.K3534fs	CSMD3_ENST00000352409.3_Frame_Shift_Ins_p.K3464fs|CSMD3_ENST00000343508.3_Frame_Shift_Ins_p.K3494fs|CSMD3_ENST00000455883.2_Frame_Shift_Ins_p.K3365fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3534						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCATGTTGCTATTGCTCAGTGT	0.366										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			40	85	---	---	---	---					
COL27A1	85301	broad.mit.edu	37	9	117054413	117054413	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr9:117054413delC	ENST00000356083.3	+	49	4898	c.4507delC	c.(4507-4509)ccfs	p.P1504fs		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1504	Collagen-like 15.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ACAGCTGGGTCCCCCTGGCAA	0.587													2	4	---	---	---	---					
SH2D4B	387694	broad.mit.edu	37	10	82298212	82298212	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr10:82298212delG	ENST00000339284.2	+	1	555	c.125delG	c.(124-126)cgfs	p.R42fs	SH2D4B_ENST00000470604.2_Frame_Shift_Del_p.R42fs	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	42										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			TGGAAGGAGCGGGAGACTTGG	0.617													3	3	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89405204	89405204	+	RNA	DEL	C	C	-			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr11:89405204delC	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AAAAAACCaacctatctgagt	0.353													14	21	---	---	---	---					
WNK1	65125	broad.mit.edu	37	12	1005419	1005420	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:1005419_1005420delAG	ENST00000537687.1	+	24	7189_7190	c.6546_6547delAG	c.(6544-6549)ccagfs	p.PE2182fs	WNK1_ENST00000535572.1_Frame_Shift_Del_p.PE1674fs|WNK1_ENST00000530271.2_Frame_Shift_Del_p.PE2420fs|WNK1_ENST00000315939.6_Frame_Shift_Del_p.PE1922fs|WNK1_ENST00000340908.4_Frame_Shift_Del_p.PE1515fs	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1922					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CAGATGTGCCAGAGAGTGCCCA	0.505													20	115	---	---	---	---					
PRB1	5542	broad.mit.edu	37	12	11506214	11506214	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:11506214delG	ENST00000500254.2	-	4	461	c.424delC	c.(424-426)gafs	p.R142fs	PRB1_ENST00000546254.1_Frame_Shift_Del_p.R142fs|PRB1_ENST00000545626.1_Frame_Shift_Del_p.R122fs	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	336	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGAGGAGATCGGGCACTTTGG	0.607													495	43	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49421894	49421894	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:49421894delC	ENST00000301067.7	-	46	14412	c.14413delG	c.(14413-14415)agfs	p.E4805fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CTCAGCAGCTCCGCCACTGCC	0.592													13	30	---	---	---	---					
KRT80	144501	broad.mit.edu	37	12	52566834	52566835	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:52566834_52566835delAG	ENST00000313234.5	-	6	1041_1042	c.944_945delCT	c.(943-945)tfs	p.S315fs	KRT80_ENST00000394815.2_Frame_Shift_Del_p.S315fs	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	315	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GGCTCTTGACAGAGAGGATCTG	0.624													24	45	---	---	---	---					
ESYT1	23344	broad.mit.edu	37	12	56522379	56522379	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:56522379delC	ENST00000394048.5	+	1	540	c.276delC	c.(274-276)cgfs	p.R93fs	RP11-603J24.5_ENST00000549438.1_RNA|ESYT1_ENST00000267113.4_Frame_Shift_Del_p.R93fs|ESYT1_ENST00000541590.1_Frame_Shift_Del_p.R93fs|RP11-603J24.5_ENST00000550947.1_RNA	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	93						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TGGGCTGGCGCCGGGTCCGCG	0.617													11	14	---	---	---	---					
CFAP54	144535	broad.mit.edu	37	12	97147651	97147651	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr12:97147651delG	ENST00000524981.3	+	23	3168	c.3168delG	c.(3166-3168)gtfs	p.V1056fs				Q6ZTY8	CL063_HUMAN		1030										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AACATGAGGTGGAAGCTGAAA	0.403													30	60	---	---	---	---					
MTMR6	9107	broad.mit.edu	37	13	25840354	25840354	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr13:25840354delC	ENST00000381801.5	-	4	1136	c.375delG	c.(373-375)tgfs	p.W125fs	MTMR6_ENST00000540661.1_Frame_Shift_Del_p.W125fs	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	125	Myotubularin phosphatase.			W -> R (in Ref. 4; CAD89918).		cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		CAATGAGCTGCCAGCCTTGTA	0.393													13	13	---	---	---	---					
PTMAP5	150928	broad.mit.edu	37	13	82264840	82264840	+	RNA	DEL	G	G	-			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr13:82264840delG	ENST00000607242.1	+	0	795																											CATATTGTTAGGGTCAGCCAT	0.328													3	3	---	---	---	---					
TRAV9-2	28677	broad.mit.edu	37	14	22409533	22409539	+	RNA	DEL	CTCTCTC	CTCTCTC	-	rs57759840		TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr14:22409533_22409539delCTCTCTC	ENST00000390441.2	+	0	102																											ctctctctctctctctctTTTTTTTTT	0.415													4	5	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25436459	25436459	+	RNA	DEL	G	G	-			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr15:25436459delG	ENST00000424208.1	+	0	1054				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						CTGAAGCTCAGGCCCTTCCTG	0.642													45	194	---	---	---	---					
CECR2	27443	broad.mit.edu	37	22	18022443	18022444	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chr22:18022443_18022444insG	ENST00000262608.8	+	15	2548_2549	c.2548_2549insG	c.(2548-2550)gggfs	p.G850fs	CECR2_ENST00000400573.4_Frame_Shift_Ins_p.G849fs|CECR2_ENST00000400585.2_Frame_Shift_Ins_p.G708fs	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	891					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCAGGCTCTTCGGGGGGTGCAG	0.634													46	50	---	---	---	---					
MAGED1	9500	broad.mit.edu	37	X	51638387	51638419	+	In_Frame_Del	DEL	CTCAGGCTCATAATGCCAAGGATGTGCCCAACA	CTCAGGCTCATAATGCCAAGGATGTGCCCAACA	-	rs141080853		TCGA-BB-7862-01A-21D-2229-08	TCGA-BB-7862-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84c57a23-1428-488e-9275-9f2bc3673476	5aecc517-51d9-48af-ae2a-8eb82cc47df3	g.chrX:51638387_51638419delCTCAGGCTCATAATGCCAAGGATGTGCCCAACA	ENST00000375695.2	+	4	605_637	c.452_484delCTCAGGCTCATAATGCCAAGGATGTGCCCAACA	c.(451-486)tcg>t	p.SQAHNAKDVPNT151del	MAGED1_ENST00000375772.3_In_Frame_Del_p.SQAHNAKDVPNT95del|MAGED1_ENST00000375722.1_In_Frame_Del_p.SQAHNAKDVPNT95del|MAGED1_ENST00000326587.7_In_Frame_Del_p.SQAHNAKDVPNT95del|MAGED1_ENST00000494718.1_3'UTR	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	95					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					TATGATTTCTCTCAGGCTCATAATGCCAAGGATGTGCCCAACACGCAGCCCAA	0.506										Multiple Myeloma(10;0.10)			4	5	---	---	---	---					
