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
ATP1A3	478	broad.mit.edu	37	19	42479800	42479800	+	Silent	SNP	G	G	A	rs143307687		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:42479800G>A	ENST00000545399.1	-	16	2436	c.2283C>T	c.(2281-2283)atC>atT	p.I761I	ATP1A3_ENST00000602133.1_Silent_p.I718I|ATP1A3_ENST00000543770.1_Silent_p.I759I|ATP1A3_ENST00000302102.5_Silent_p.I748I	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	748					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CCCCTGTGACGATGGAGGCAA	0.632000													14	43					0	0	0.002450	0	0
OR6Q1	219952	broad.mit.edu	37	11	57799015	57799015	+	Silent	SNP	T	T	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:57799015T>G	ENST00000302622.3	+	1	614	c.591T>G	c.(589-591)acT>acG	p.T197T	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				CAGATGTCACTTGGAAGGAGA	0.502000													4	128					0	0	0.000602	0	0
MPP6	51678	broad.mit.edu	37	7	24663366	24663366	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:24663366G>A	ENST00000396475.2	+	3	379	c.80G>A	c.(79-81)gGa>gAa	p.G27E	MPP6_ENST00000409761.1_Intron|MPP6_ENST00000222644.4_Missense_Mutation_p.G27E	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	27	L27 1.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TTCCTCAAGGGAATTATGGAG	0.348000													15	51					0	0	0.006122	0	0
C1S	716	broad.mit.edu	37	12	7170352	7170352	+	Silent	SNP	T	T	A	rs150797595		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:7170352T>A	ENST00000406697.1	+	7	1000	c.372T>A	c.(370-372)gcT>gcA	p.A124A	C1S_ENST00000328916.3_Silent_p.A124A|C1S_ENST00000360817.5_Silent_p.A124A|C1S_ENST00000402681.3_5'UTR			P09871	C1S_HUMAN	complement component 1, s subcomponent	124	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	CGGGGTTTGCTGCATACTATG	0.438000													19	76					0	0	0.014323	0	0
TRABD2A	129293	broad.mit.edu	37	2	85059191	85059191	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:85059191C>T	ENST00000335459.5	-	4	1128	c.923G>A	c.(922-924)cGa>cAa	p.R308Q	TRABD2A_ENST00000409520.2_Missense_Mutation_p.R357Q|TRABD2A_ENST00000479944.1_5'UTR	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		GTGGATGGGTCGTCCAGCAGG	0.562000													9	52					0	0	0.006214	0	0
CLCA4	22802	broad.mit.edu	37	1	87040246	87040246	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:87040246G>A	ENST00000370563.3	+	10	1533	c.1491G>A	c.(1489-1491)ctG>ctA	p.L497L	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	497						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GATTAACACTGAATAGTAATG	0.348000													17	47					0	0	0.006122	0	0
C10orf120	399814	broad.mit.edu	37	10	124457516	124457516	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:124457516G>A	ENST00000329446.4	-	3	772	c.741C>T	c.(739-741)ttC>ttT	p.F247F		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	247										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				CTTTTGACTTGAAAACTACAT	0.388000													5	33					0	0	0.003080	0	0
ANK3	288	broad.mit.edu	37	10	61834328	61834328	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:61834328C>T	ENST00000280772.1	-	37	6502	c.6311G>A	c.(6310-6312)gGa>gAa	p.G2104E	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2104					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGTATCTGTTCCAAAAAAGGA	0.408000													13	34					0	0	0.013537	0	0
RANBP2	5903	broad.mit.edu	37	2	109367805	109367805	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:109367805C>T	ENST00000283195.6	+	10	1485	c.1359C>T	c.(1357-1359)atC>atT	p.I453I		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	453					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						TACCTGGAATCCGAAAATGGC	0.383000													31	144					0	0	0.007835	0	0
FBXO15	201456	broad.mit.edu	37	18	71740883	71740883	+	Missense_Mutation	SNP	G	G	A	rs146975565		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:71740883G>A	ENST00000269500.5	-	10	1453	c.1118C>T	c.(1117-1119)tCg>tTg	p.S373L	FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000419743.2_Missense_Mutation_p.S449L	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	373										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TGTGGCAGGCGATCTCAGGCA	0.502000													23	127					0	0	0.004656	0	0
DUSP27	92235	broad.mit.edu	37	1	167097064	167097064	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:167097064C>T	ENST00000361200.2	+	6	2862	c.2696C>T	c.(2695-2697)tCt>tTt	p.S899F	DUSP27_ENST00000443333.1_Missense_Mutation_p.S899F|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.S899F			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	899	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TTCCGATATTCTTCCCGCAGT	0.502000													12	29					0	0	0.002450	0	0
PTK2	5747	broad.mit.edu	37	8	141675044	141675044	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:141675044G>A	ENST00000522684.1	-	31	3147	c.2918C>T	c.(2917-2919)cCc>cTc	p.P973L	PTK2_ENST00000519419.1_Missense_Mutation_p.P1017L|PTK2_ENST00000340930.3_Missense_Mutation_p.P986L|PTK2_ENST00000519465.1_Missense_Mutation_p.P601L|PTK2_ENST00000517887.1_Missense_Mutation_p.P1017L|PTK2_ENST00000430260.2_Missense_Mutation_p.P283L|PTK2_ENST00000538769.1_Missense_Mutation_p.P641L|PTK2_ENST00000517712.1_Missense_Mutation_p.P36L|PTK2_ENST00000521059.1_Missense_Mutation_p.P973L|PTK2_ENST00000395218.2_Missense_Mutation_p.P986L|PTK2_ENST00000535192.1_Missense_Mutation_p.P927L	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	973	Interaction with RGNEF (By similarity).|Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TGGTAGGAGGGGAATGGTCTC	0.532000													6	33					0	0	0.004482	0	0
WDR78	79819	broad.mit.edu	37	1	67299299	67299299	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:67299299G>A	ENST00000371026.3	-	13	2037	c.1982C>T	c.(1981-1983)gCt>gTt	p.A661V	WDR78_ENST00000431318.1_Missense_Mutation_p.A407V	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	661										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CATTCCAGGAGCCTGTCGAGA	0.343000													9	31					0	0	0.004482	0	0
BAI3	577	broad.mit.edu	37	6	70065752	70065752	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:70065752G>A	ENST00000370598.1	+	28	4416	c.3595_splice	c.e28+1	p.V1199_splice	BAI3_ENST00000546190.1_Splice_Site_p.V163_splice|BAI3_ENST00000238918.8_Splice_Site_p.V405_splice	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1199					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V1199L(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTGTCGATCAGGTAAGAATAT	0.289000													45	100					0	0	0.014410	0	0
NUTM1	256646	broad.mit.edu	37	15	34646835	34646835	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:34646835G>A	ENST00000537011.1	+	6	1646	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	NUTM1_ENST00000333756.4_Missense_Mutation_p.E394K|NUTM1_ENST00000438749.3_Missense_Mutation_p.E412K					NUT midline carcinoma, family member 1																		AAAACAAGAGGAAGAAGGGCA	0.517000													14	72					0	0	0.002450	0	0
CTNNA3	29119	broad.mit.edu	37	10	67862927	67862927	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:67862927C>T	ENST00000433211.1	-	14	2139	c.1965G>A	c.(1963-1965)ggG>ggA	p.G655G	CTNNA3_ENST00000373744.4_Silent_p.G655G	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	655					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TATCAGTTTTCCCTTCGGTCT	0.493000													14	21					0	0	0.003163	0	0
RBP3	5949	broad.mit.edu	37	10	48387922	48387922	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:48387922C>T	ENST00000224600.4	-	1	3069	c.2956G>A	c.(2956-2958)Ggg>Agg	p.G986R		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	986	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGGTCAGCCCCCAGGATCTCG	0.617000													13	51					0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179423307	179423307	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179423307G>A	ENST00000589042.1	-	327	87103	c.86879C>T	c.(86878-86880)tCc>tTc	p.S28960F	TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S19895F|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S20020F|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S26392F|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S20087F|TTN_ENST00000591111.1_Missense_Mutation_p.S27319F|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27319	Ig-like 133.						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)			CCAGGTCAGGGAAACACTGTC	0.388000													7	23					0	0	0.001984	0	0
COL12A1	1303	broad.mit.edu	37	6	75828869	75828869	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:75828869A>G	ENST00000322507.8	-	46	7553	c.7244T>C	c.(7243-7245)tTg>tCg	p.L2415S	COL12A1_ENST00000483888.2_Missense_Mutation_p.L2415S|COL12A1_ENST00000345356.6_Missense_Mutation_p.L1251S|COL12A1_ENST00000416123.2_Missense_Mutation_p.L2415S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2415	VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTCCCAAGTCAAGACTTTCTC	0.493000													24	38					0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179438107	179438107	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179438107C>T	ENST00000589042.1	-	326	72976	c.72752G>A	c.(72751-72753)gGa>gAa	p.G24251E	TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G15186E|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G15311E|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G21683E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G15378E|TTN_ENST00000591111.1_Missense_Mutation_p.G22610E|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22610	Fibronectin type-III 76.						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)			GATTTCACTTCCACCATCAGA	0.408000													7	48					0	0	0.004482	0	0
VAV3	10451	broad.mit.edu	37	1	108313335	108313335	+	Missense_Mutation	SNP	C	C	T	rs140605941		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:108313335C>T	ENST00000370056.4	-	6	845	c.571G>A	c.(571-573)Gat>Aat	p.D191N	VAV3_ENST00000371846.4_Missense_Mutation_p.D126N|VAV3_ENST00000527011.1_Missense_Mutation_p.D191N|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	191					angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CTTCGTATATCATTTTCTGGA	0.294000													44	76					0	0	0.014410	0	0
PLOD2	5352	broad.mit.edu	37	3	145796908	145796908	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:145796908C>T	ENST00000282903.5	-	13	1672	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	PLOD2_ENST00000360060.3_Missense_Mutation_p.E499K|PLOD2_ENST00000461497.1_Missense_Mutation_p.E159K|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Missense_Mutation_p.E444K	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	499					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CTTACCATTTCTCTAGCATTT	0.398000													25	91					0	0	0.008361	0	0
PRDM16	63976	broad.mit.edu	37	1	3102925	3102925	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:3102925C>T	ENST00000378398.3	+	2	356	c.274C>T	c.(274-276)Cca>Tca	p.P92S	PRDM16_ENST00000514189.1_Missense_Mutation_p.P92S|PRDM16_ENST00000511072.1_Missense_Mutation_p.P92S|PRDM16_ENST00000442529.2_Missense_Mutation_p.P92S|PRDM16_ENST00000441472.2_Missense_Mutation_p.P92S|PRDM16_ENST00000378391.2_Missense_Mutation_p.P92S|PRDM16_ENST00000270722.5_Missense_Mutation_p.P92S			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	92	SET.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GTCCTCCATCCCAGGGGCTGG	0.662000			T	EVI1	"""MDS, AML"""								20	49					0	0	0.012319	0	0
SSTR3	6753	broad.mit.edu	37	22	37602955	37602955	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:37602955G>A	ENST00000328544.3	-	2	1421	c.888C>T	c.(886-888)ttC>ttT	p.F296F	SSTR3_ENST00000402501.1_Silent_p.F296F	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	296					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						CCACCACCAGGAAGTAGAGCC	0.607000													12	60					0	0	0.013537	0	0
PHLPP2	23035	broad.mit.edu	37	16	71712746	71712746	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:71712746C>T	ENST00000393524.2	-	7	1913	c.1180G>A	c.(1180-1182)Gat>Aat	p.D394N	PHLPP2_ENST00000567016.1_Missense_Mutation_p.D429N|PHLPP2_ENST00000568954.1_Missense_Mutation_p.D394N|PHLPP2_ENST00000356272.3_Missense_Mutation_p.D394N|PHLPP2_ENST00000360429.3_Missense_Mutation_p.D394N			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	394						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						ACCACTCTATCTAACATAGTG	0.398000													7	48					0	0	0.001984	0	0
PCDHA11	56138	broad.mit.edu	37	5	140248751	140248751	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140248751C>T	ENST00000398640.2	+	1	63	c.63C>T	c.(61-63)ctC>ctT	p.L21L	PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTCCTCCTCGAATTCTGGG	0.577000													7	51					0	0	0.003080	0	0
GABRR3	200959	broad.mit.edu	37	3	97726707	97726707	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:97726707C>T	ENST00000472788.1	-	0	656					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						GACTTGTTTCCGTGTTTCCAG	0.373000													5	9					0	0	0.000602	0	0
PVR	5817	broad.mit.edu	37	19	45153195	45153195	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:45153195C>T	ENST00000425690.3	+	3	841	c.542C>T	c.(541-543)tCa>tTa	p.S181L	PVR_ENST00000406449.4_Missense_Mutation_p.S181L|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000344956.4_Missense_Mutation_p.S181L|PVR_ENST00000403059.4_Missense_Mutation_p.S181L	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	181	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		ACCTGGCACTCAGACCTGGGC	0.632000													44	196					0	0	0.009718	0	0
MRGPRD	116512	broad.mit.edu	37	11	68747545	68747545	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:68747545G>A	ENST00000309106.3	-	1	910	c.911C>T	c.(910-912)cCc>cTc	p.P304L		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	304						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTCCAGCTCGGGCTCCTCGCG	0.682000													26	49					0	0	0.004656	0	0
FER1L6	654463	broad.mit.edu	37	8	125082726	125082726	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:125082726G>A	ENST00000522917.1	+	30	4059	c.3853G>A	c.(3853-3855)Gag>Aag	p.E1285K	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.E1285K	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1285						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CGGTGATCTCGAGAGTGAATT	0.418000													16	99					0	0	0.007413	0	0
THSD7B	80731	broad.mit.edu	37	2	138413174	138413174	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:138413174G>A	ENST00000409968.1	+	22	4227	c.4049G>A	c.(4048-4050)gGa>gAa	p.G1350E	THSD7B_ENST00000272643.3_Missense_Mutation_p.G1353E|THSD7B_ENST00000413152.2_Missense_Mutation_p.G1322E|THSD7B_ENST00000543459.1_Intron					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)		GCACTGTGTGGAGAAATGCCC	0.537000													9	18					0	0	0.004482	0	0
KALRN	8997	broad.mit.edu	37	3	123946904	123946904	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:123946904C>T	ENST00000360013.3	+	2	262	c.135C>T	c.(133-135)ttC>ttT	p.F45F	KALRN_ENST00000460856.1_Silent_p.F45F|KALRN_ENST00000240874.3_Silent_p.F45F	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	45	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.F45F(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGGTGGCCTTCGTGTCTGGTG	0.448000													39	90					0	0	0.008740	0	0
CSPG4	1464	broad.mit.edu	37	15	75977570	75977570	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:75977570G>A	ENST00000308508.5	-	4	4354	c.4262C>T	c.(4261-4263)tCc>tTc	p.S1421F		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1421	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CATTCTCCAGGAGAAGGCGCT	0.662000													19	70					0	0	0.008871	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94897975	94897975	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:94897975G>A	ENST00000289495.5	+	11	2929	c.2713G>A	c.(2713-2715)Gat>Aat	p.D905N	PPP1R9A_ENST00000424654.1_Missense_Mutation_p.D905N|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.D905N|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.D905N|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.D905N|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.D927N	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	905	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAGACTGTATGATAGTGTTAG	0.483000										HNSCC(28;0.073)			11	33					0	0	0.013537	0	0
TTN	7273	broad.mit.edu	37	2	179592867	179592867	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179592867C>T	ENST00000589042.1	-	67	19908	c.19684G>A	c.(19684-19686)Gat>Aat	p.D6562N	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D5318N|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D6245N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6245	Ig-like 47.						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)			CTGCATGCATCATCTCCTGCT	0.383000													6	17					0	0	0.001984	0	0
SLC24A2	25769	broad.mit.edu	37	9	19786487	19786487	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:19786487G>A	ENST00000341998.2	-	1	439	c.378C>T	c.(376-378)tcC>tcT	p.S126S	SLC24A2_ENST00000286344.3_Silent_p.S126S	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	126					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TCTCCTCAAGGGAAAAGATGT	0.438000													43	51					0	0	0.009718	0	0
PTPRK	5796	broad.mit.edu	37	6	128403761	128403761	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:128403761G>A	ENST00000368227.3	-	10	1964	c.1598C>T	c.(1597-1599)tCa>tTa	p.S533L	PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Missense_Mutation_p.S533L|PTPRK_ENST00000368226.4_Missense_Mutation_p.S533L|PTPRK_ENST00000532331.1_Missense_Mutation_p.S533L|PTPRK_ENST00000368215.3_Missense_Mutation_p.S533L|PTPRK_ENST00000368213.5_Missense_Mutation_p.S533L|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368207.3_Missense_Mutation_p.S533L			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	533	Fibronectin type-III 3.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AGGATCAAATGATCTTATACT	0.368000													12	24					0	0	0.001855	0	0
PACS1	55690	broad.mit.edu	37	11	65988658	65988658	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:65988658C>T	ENST00000320580.4	+	10	1266	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	411					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						AGTCCAGCTCCCAGACGGAGA	0.622000													28	64					0	0	0.009535	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215259	140215259	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140215259G>A	ENST00000525929.1	+	1	1291	c.1291G>A	c.(1291-1293)Ggc>Agc	p.G431S	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.G431S|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGGACGGGGGCTCGCCTTC	0.627000													20	67					0	0	0.010504	0	0
C11orf85	283129	broad.mit.edu	37	11	64717230	64717230	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:64717230C>T	ENST00000536065.1	-	6	1320	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	C11orf85_ENST00000432175.1_Missense_Mutation_p.E112K|C11orf85_ENST00000301896.5_Missense_Mutation_p.E112K|C11orf85_ENST00000530444.1_Intron			Q3KP22	CK085_HUMAN	chromosome 11 open reading frame 85	112										breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						GACAGGTTTTCATGGAACCAT	0.433000													28	51					0	0	0.008361	0	0
CFH	3075	broad.mit.edu	37	1	196715117	196715117	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:196715117C>T	ENST00000367429.4	+	21	3721	c.3481C>T	c.(3481-3483)Cca>Tca	p.P1161S		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1161	Sushi 19.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GTCAGAACCACCAAAATGCTT	0.368000													8	23					0	0	0.001855	0	0
GPR39	2863	broad.mit.edu	37	2	133175434	133175434	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:133175434G>A	ENST00000329321.3	+	1	1288	c.819G>A	c.(817-819)gaG>gaA	p.E273E		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	273						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGAGCGAAGAGAGCAGGACCG	0.622000													19	63					0	0	0.012319	0	0
KNDC1	85442	broad.mit.edu	37	10	135020700	135020700	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:135020700C>T	ENST00000304613.3	+	20	3660	c.3639C>T	c.(3637-3639)atC>atT	p.I1213I	KNDC1_ENST00000368572.2_Silent_p.I1215I|KNDC1_ENST00000368571.2_3'UTR			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1213					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TCGTGAACATCGCGGCCGCAC	0.672000													5	18					0	0	0.000602	0	0
C7	730	broad.mit.edu	37	5	40955534	40955534	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:40955534G>A	ENST00000313164.9	+	10	1498	c.1139G>A	c.(1138-1140)gGa>gAa	p.G380E		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	380	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ATCAGAGGGGGAGGTGCAGGC	0.423000													29	74					0	0	0.003271	0	0
ABCB1	5243	broad.mit.edu	37	7	87148741	87148741	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:87148741G>A	ENST00000265724.3	-	24	3245	c.2828C>T	c.(2827-2829)tCc>tTc	p.S943F	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.S879F	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	943	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CTGGGTGAAGGAAAATGTAAT	0.383000													21	32					0	0	0.008871	0	0
DYRK3	8444	broad.mit.edu	37	1	206821851	206821851	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:206821851C>T	ENST00000367106.1	+	4	1721	c.1248C>T	c.(1246-1248)tcC>tcT	p.S416S	DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367109.2_Silent_p.S436S|DYRK3_ENST00000367108.3_Silent_p.S416S			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	436	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TGGAGCAATCCAAACGTGCCA	0.537000													67	169					0	0	0.014410	0	0
ATP6V1G3	127124	broad.mit.edu	37	1	198498311	198498311	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:198498311C>T	ENST00000309309.7	-	4	234	c.128_splice	c.e4-1	p.W43_splice	ATP6V1G3_ENST00000281087.2_Splice_Site_p.R28_splice|ATP6V1G3_ENST00000489986.1_Splice_Site_p.G34_splice|ATP6V1G3_ENST00000367381.1_Splice_Site_p.G34_splice|ATP6V1G3_ENST00000367382.1_Splice_Site_p.R28_splice	NM_133326.1	NP_579872.1	Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	0					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						CTTTCCTTTTCCTGAAAATTA	0.254000													17	52					0	0	0.004007	0	0
GPR112	139378	broad.mit.edu	37	X	135428876	135428876	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:135428876C>T	ENST00000394143.1	+	6	3302	c.3011C>T	c.(3010-3012)tCc>tTc	p.S1004F	GPR112_ENST00000412101.1_Missense_Mutation_p.S799F|GPR112_ENST00000394141.1_Missense_Mutation_p.S799F|GPR112_ENST00000287534.4_Missense_Mutation_p.S941F|GPR112_ENST00000370652.1_Missense_Mutation_p.S1004F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1004					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GCTGCTCATTCCTCAGCAACC	0.493000													58	26					0	0	0.014410	0	0
OR7D2	162998	broad.mit.edu	37	19	9296697	9296697	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9296697G>A	ENST00000344248.2	+	1	419	c.240G>A	c.(238-240)aaG>aaA	p.K80K		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	80					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TCGTCCCCAAGATGCTGGTGA	0.512000													40	79					0	0	0.008740	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140753757	140753757	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140753757C>T	ENST00000517434.1	+	1	107	c.107C>T	c.(106-108)cCc>cTc	p.P36L	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_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)			TACTCTATTCCCGAGGAGCTG	0.657000													9	11					0	0	0.008291	0	0
COL7A1	1294	broad.mit.edu	37	3	48621767	48621767	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:48621767G>A	ENST00000328333.8	-	36	4268	c.4161C>T	c.(4159-4161)ccC>ccT	p.P1387P	COL7A1_ENST00000454817.1_Silent_p.P1387P	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1387	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGGGCCACGGGGTCCTGGGT	0.617000													6	11					0	0	0.001984	0	0
IFRD2	7866	broad.mit.edu	37	3	50329948	50329948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:50329948G>A	ENST00000336089.4	-	3	309	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	IFRD2_ENST00000436390.1_5'UTR|IFRD2_ENST00000417626.2_5'UTR			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	0							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCAGAGGCCTGAGCGCGCAGG	0.657000													18	37					0	0	0.008871	0	0
TTLL2	83887	broad.mit.edu	37	6	167754924	167754924	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:167754924G>A	ENST00000239587.5	+	3	1624	c.1536G>A	c.(1534-1536)cgG>cgA	p.R512R		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	512					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCAAGTTACGGAGCAGGCACA	0.577000													11	49					0	0	0.002450	0	0
WIZ	58525	broad.mit.edu	37	19	15536289	15536289	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15536289G>A	ENST00000389282.4	-	7	4156	c.3943C>T	c.(3943-3945)Ccc>Tcc	p.P1315S	WIZ_ENST00000263381.6_Missense_Mutation_p.P458S|WIZ_ENST00000599910.1_Missense_Mutation_p.P632S|WIZ_ENST00000599686.2_Missense_Mutation_p.P499S|WIZ_ENST00000545156.1_Missense_Mutation_p.P629S			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1315						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						CCAGCCAGGGGCGACAGCGGC	0.726000													3	5					0	0	0.004672	0	0
TARSL2	123283	broad.mit.edu	37	15	102242448	102242448	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:102242448G>A	ENST00000335968.3	-	9	1431	c.1215C>T	c.(1213-1215)atC>atT	p.I405I		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	405					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATACCTTCCCGATCTTCCTGT	0.393000													27	52					0	0	0.008361	0	0
LINC00639	283547	broad.mit.edu	37	14	39304946	39304946	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:39304946G>A	ENST00000553932.1	-	0	3616																											AGTGTTAGCAGTGAGGGAAGG	0.527000													5	5					0	0	0.001168	0	0
SLC38A5	92745	broad.mit.edu	37	X	48320628	48320628	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:48320628G>A	ENST00000376876.3	-	9	1467	c.624C>T	c.(622-624)ttC>ttT	p.F208F	SLC38A5_ENST00000376875.1_Silent_p.F157F|SLC38A5_ENST00000317669.5_Silent_p.F208F			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	208					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						CCGAAACAAGGAAAAACAGCA	0.557000													3	11					0	0	0.004672	0	0
TGM5	9333	broad.mit.edu	37	15	43552323	43552323	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:43552323G>A	ENST00000220420.5	-	3	370	c.363C>T	c.(361-363)atC>atT	p.I121I	TGM5_ENST00000349114.4_Intron	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	121					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGAAGGAGTCGATGTGGATTT	0.627000													27	48					0	0	0.007291	0	0
PVALB	5816	broad.mit.edu	37	22	37209712	37209712	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:37209712C>T	ENST00000216200.5	-	4	337	c.282G>A	c.(280-282)ggG>ggA	p.G94G	PVALB_ENST00000417718.2_Silent_p.G94G|PVALB_ENST00000404171.1_Silent_p.G62G	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN	parvalbumin	94	EF-hand 2.						calcium ion binding			large_intestine(1)|lung(1)|skin(1)	3						TTTTGCCGTCCCCATCTTTGT	0.507000													28	96					0	0	0.012213	0	0
TRRAP	8295	broad.mit.edu	37	7	98565207	98565207	+	Silent	SNP	C	C	T	rs139721649		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:98565207C>T	ENST00000359863.4	+	50	7586	c.7377C>T	c.(7375-7377)ttC>ttT	p.F2459F	TRRAP_ENST00000446306.3_Silent_p.F2441F|TRRAP_ENST00000355540.3_Silent_p.F2441F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2459					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.F2441F(2)|p.F2459F(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAAAGTTTTTCGAGGTTTTTG	0.552000													15	61					0	0	0.002450	0	0
SRPX2	27286	broad.mit.edu	37	X	99917354	99917354	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:99917354C>T	ENST00000373004.3	+	4	773	c.345C>T	c.(343-345)gcC>gcT	p.A115A		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	115	Sushi 1.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CTGGAACTGCCTACTGCAGGC	0.562000													54	26					0	0	0.014410	0	0
FRMD5	84978	broad.mit.edu	37	15	44166556	44166556	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:44166556C>T	ENST00000417257.1	-	14	1416	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	FRMD5_ENST00000484674.1_Missense_Mutation_p.E320K|FRMD5_ENST00000402883.1_Missense_Mutation_p.E414K	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	414						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		GCTACTCGCTCATTGCTATCT	0.597000													13	43					0	0	0.002450	0	0
TRAT1	50852	broad.mit.edu	37	3	108568080	108568080	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:108568080G>A	ENST00000295756.6	+	5	512	c.282G>A	c.(280-282)caG>caA	p.Q94Q	TRAT1_ENST00000426646.1_Silent_p.Q57Q	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	94					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						ATAAGATGCAGGAAGCCACCC	0.368000													12	34					0	0	0.013537	0	0
SLC7A13	157724	broad.mit.edu	37	8	87241866	87241866	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:87241866C>T	ENST00000297524.3	-	1	744	c.641G>A	c.(640-642)gGa>gAa	p.G214E	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.G214E	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	214						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TGCAAAATATCCTTGGAAGAT	0.363000													6	49					0	0	0.003080	0	0
DEFB113	245927	broad.mit.edu	37	6	49936573	49936573	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:49936573C>T	ENST00000398718.1	-	2	65	c.66G>A	c.(64-66)caG>caA	p.Q22Q		NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN	defensin, beta 113	22					defense response to bacterium	extracellular region				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					TTGTTTTTTTCTGTGGAACTA	0.348000													5	19					0	0	0.000602	0	0
LUZP2	338645	broad.mit.edu	37	11	25004772	25004772	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:25004772C>T	ENST00000533227.1	+	9	727	c.440C>T	c.(439-441)cCa>cTa	p.P147L	LUZP2_ENST00000336930.6_Missense_Mutation_p.P233L	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	233						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						ACATCAAATCCAACTCGGATG	0.453000													25	38					0	0	0.003330	0	0
DEGS2	123099	broad.mit.edu	37	14	100615378	100615378	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:100615378C>T	ENST00000305631.5	-	2	1327	c.752G>A	c.(751-753)tGg>tAg	p.W251*	DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN	delta(4)-desaturase, sphingolipid 2	251					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GAAGGTGATCCAGTTGAGAGG	0.632000													19	96					0	0	0.007413	0	0
SDPR	8436	broad.mit.edu	37	2	192700913	192700913	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:192700913G>A	ENST00000304141.4	-	2	1343	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	338						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GGGACGCTTCGGAATGACCCT	0.562000													32	62					0	0	0.013726	0	0
CLCN1	1180	broad.mit.edu	37	7	143016884	143016884	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:143016884G>A	ENST00000343257.2	+	2	304	c.217G>A	c.(217-219)Gag>Aag	p.E73K		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	73					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTCAGACAGGGAGCAGGACAT	0.463000													12	60					0	0	0.010729	0	0
SPRED3	399473	broad.mit.edu	37	19	38881044	38881044	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:38881044C>T	ENST00000338502.4	+	1	205	c.102C>T	c.(100-102)gtC>gtT	p.V34V	SPRED3_ENST00000586301.1_Silent_p.V34V|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000587013.1_Intron	NM_001042522.1	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	34	WH1.				multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGTGTCGGGTCCGAGGGGCCA	0.731000													9	12					0	0	0.004482	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998043	27998043	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:27998043G>A	ENST00000441525.1	-	1	1523	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	470										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GATGATCTGGGAGGATGATTT	0.493000													5	4					0	0	0.000602	0	0
C1orf127	148345	broad.mit.edu	37	1	11024217	11024217	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:11024217C>T	ENST00000377004.4	-	5	483	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	C1orf127_ENST00000377008.4_Missense_Mutation_p.E13K	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	13								p.E13K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TGGACGCTTTCCTGGCCCAGC	0.562000													18	41					0	0	0.008871	0	0
SMYD1	150572	broad.mit.edu	37	2	88396129	88396129	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:88396129C>T	ENST00000419482.2	+	6	799	c.714C>T	c.(712-714)gcC>gcT	p.A238A	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.A225A	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	238	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AGCTCCGGGCCCTAGGCAAGA	0.507000													20	98					0	0	0.014323	0	0
FAT4	79633	broad.mit.edu	37	4	126329794	126329794	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:126329794G>A	ENST00000394329.3	+	4	5778	c.5765G>A	c.(5764-5766)gGg>gAg	p.G1922E	FAT4_ENST00000335110.5_Missense_Mutation_p.G220E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1922	Cadherin 18.				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						GAAGATGGTGGGGGACAATTT	0.338000													18	18					0	0	0.008871	0	0
NINL	22981	broad.mit.edu	37	20	25460821	25460821	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:25460821G>A	ENST00000278886.6	-	15	1966	c.1893C>T	c.(1891-1893)gaC>gaT	p.D631D	NINL_ENST00000422516.1_Silent_p.D631D	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	631					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGGTCCTGAGGTCTTGGTAAT	0.547000													11	43					0	0	0.001855	0	0
RPAP1	26015	broad.mit.edu	37	15	41817242	41817242	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:41817242G>A	ENST00000304330.4	-	15	2138	c.2022C>T	c.(2020-2022)gcC>gcT	p.A674A	RPAP1_ENST00000561603.1_Silent_p.A674A	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	674						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAGACGGAGGGCCTCGGTGC	0.627000													4	40					0	0	0.009096	0	0
LRRK1	79705	broad.mit.edu	37	15	101598270	101598270	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:101598270G>A	ENST00000284395.5	+	30	4994	c.4594G>A	c.(4594-4596)Ggg>Agg	p.G1532R	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.G1535R			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1535					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACTGTGCTGTGGGAAGCAGAC	0.582000													5	46					0	0	0.000602	0	0
FBLN1	2192	broad.mit.edu	37	22	45970511	45970511	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:45970511C>G	ENST00000327858.6	+	15	1913	c.1818C>G	c.(1816-1818)ttC>ttG	p.F606L	FBLN1_ENST00000348697.2_Intron	NM_006486.2	NP_006477.2	P23142	FBLN1_HUMAN	fibulin 1	606					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGCCTACCTTCCGCGAGTTCA	0.652000													8	18					0	0	0.004482	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5235159	5235159	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:5235159C>T	ENST00000274181.7	+	13	2021	c.1883C>T	c.(1882-1884)tCc>tTc	p.S628F	ADAMTS16_ENST00000513709.1_3'UTR	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	628	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGTGAGGGCTCCACTCGCACT	0.453000													7	41					0	0	0.004482	0	0
SULT1C3	442038	broad.mit.edu	37	2	108881739	108881739	+	Missense_Mutation	SNP	G	G	A	rs142520746		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:108881739G>A	ENST00000329106.2	+	7	847	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	283						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						GGCCCAAAATGAAGAATTTGA	0.468000													17	59					0	0	0.006122	0	0
CDHR3	222256	broad.mit.edu	37	7	105636705	105636705	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:105636705C>T	ENST00000542731.1	+	6	726	c.618C>T	c.(616-618)ctC>ctT	p.L206L	CDHR3_ENST00000317716.9_Silent_p.L206L|CDHR3_ENST00000478080.1_Silent_p.L118L|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000541203.1_Intron|CDHR3_ENST00000343407.5_5'UTR			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	206	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GTTTCCATCTCATCGTGGAGG	0.527000													3	8					0	0	0.004672	0	0
RYR1	6261	broad.mit.edu	37	19	38951140	38951140	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:38951140G>A	ENST00000355481.4	+	20	2617	c.2486G>A	c.(2485-2487)cGa>cAa	p.R829Q	RYR1_ENST00000359596.3_Missense_Mutation_p.R829Q|RYR1_ENST00000360985.3_Missense_Mutation_p.R829Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	829					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AAGGAGTATCGACGGGAGGGG	0.627000													50	62					0	0	0.014410	0	0
ADCY7	113	broad.mit.edu	37	16	50325802	50325802	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:50325802G>A	ENST00000394697.2	+	4	871	c.531G>A	c.(529-531)ggG>ggA	p.G177G	ADCY7_ENST00000564044.1_Intron|ADCY7_ENST00000537579.1_Silent_p.G177G|ADCY7_ENST00000254235.3_Silent_p.G177G|ADCY7_ENST00000566433.2_Silent_p.G177G|ADCY7_ENST00000538642.1_Silent_p.G177G			P51828	ADCY7_HUMAN	adenylate cyclase 7	177					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TCCGGGTGGGGCTGCAGGTGA	0.662000													11	26					0	0	0.013537	0	0
PNLIP	5406	broad.mit.edu	37	10	118313319	118313319	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:118313319G>A	ENST00000369221.2	+	6	568	c.540G>A	c.(538-540)agG>agA	p.R180R		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	180					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	AGGCTGGAAGGAGAACCAATG	0.537000													8	26					0	0	0.006214	0	0
MCTP2	55784	broad.mit.edu	37	15	95019957	95019957	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:95019957C>T	ENST00000357742.4	+	21	2503	c.2503C>T	c.(2503-2505)Ccc>Tcc	p.P835S	MCTP2_ENST00000451018.3_Missense_Mutation_p.P780S|MCTP2_ENST00000449432.3_3'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	835					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GCTTCGAAATCCCTATTCCAT	0.378000													18	34					0	0	0.010504	0	0
PID1	55022	broad.mit.edu	37	2	229890656	229890656	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:229890656C>T	ENST00000392054.3	-	4	778	c.439G>A	c.(439-441)Gac>Aac	p.D147N	PID1_ENST00000354069.6_Missense_Mutation_p.D149N|PID1_ENST00000392055.3_Missense_Mutation_p.D116N|PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Missense_Mutation_p.D67N	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	149	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CCTTTGTGGTCGAGATGATGG	0.587000													11	46					0	0	0.001855	0	0
SNRK	54861	broad.mit.edu	37	3	43389194	43389194	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:43389194G>A	ENST00000296088.7	+	7	1747	c.1443G>A	c.(1441-1443)aaG>aaA	p.K481K	SNRK_ENST00000437827.1_Silent_p.K275K|SNRK_ENST00000429705.2_Silent_p.K481K|SNRK_ENST00000454177.1_Silent_p.K481K	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	481					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CATCCAGGAAGAGTGCGCCCG	0.502000													37	79					0	0	0.010771	0	0
ABCB11	8647	broad.mit.edu	37	2	169780224	169780224	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:169780224C>T	ENST00000263817.6	-	28	3998	c.3874G>A	c.(3874-3876)Ggg>Agg	p.G1292R		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1292	ABC transporter 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)	ATCACCACCCCCTGTGCCATG	0.527000													18	32					0	0	0.006122	0	0
GLB1L3	112937	broad.mit.edu	37	11	134183908	134183908	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:134183908G>A	ENST00000431683.2	+	17	1653	c.1653G>A	c.(1651-1653)atG>atA	p.M551I		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	551					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		AGATGAAAATGAGCTTCTTTG	0.478000													8	9					0	0	0.003080	0	0
FAM47C	442444	broad.mit.edu	37	X	37027036	37027036	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:37027036G>A	ENST00000358047.3	+	1	605	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	185										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						CCCCTGTGGGGAATTCTCCCC	0.647000													6	2					0	0	0.001984	0	0
TMEM239	100288797	broad.mit.edu	37	20	2795880	2795880	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:2795880C>T	ENST00000554164.1	+	2	133	c.50C>T	c.(49-51)cCa>cTa	p.P17L	C20orf141_ENST00000603872.1_Missense_Mutation_p.P17L|TMEM239_ENST00000380593.4_Missense_Mutation_p.P17L|C20orf141_ENST00000380589.4_Missense_Mutation_p.P17L			Q8WW34	Q8WW34_HUMAN	transmembrane protein 239	0																	GATCCGATCCCAGTTCCTCCA	0.612000													33	71					0	0	0.013726	0	0
DSCAM	1826	broad.mit.edu	37	21	41452104	41452104	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:41452104G>A	ENST00000400454.1	-	25	4872	c.4395C>T	c.(4393-4395)atC>atT	p.I1465I		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1465	Fibronectin type-III 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTGCTTCTATGATTTCACTTA	0.443000													48	32					0	0	0.014410	0	0
MYH13	8735	broad.mit.edu	37	17	10258308	10258308	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:10258308G>A	ENST00000418404.3	-	9	968	c.805C>T	c.(805-807)Ctg>Ttg	p.L269L	MYH13_ENST00000570743.1_Silent_p.L269L|MYH13_ENST00000252172.4_Silent_p.L269L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	269	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTTTCTAACAGATCTAAGGTA	0.368000													14	9					0	0	0.004990	0	0
LRP1B	53353	broad.mit.edu	37	2	141294268	141294268	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:141294268G>A	ENST00000389484.3	-	46	8495	c.7524C>T	c.(7522-7524)tcC>tcT	p.S2508S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2508					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)		CGTTGCAGGAGGAATTTTTAG	0.333000										TSP Lung(27;0.18)			8	16					0	0	0.003080	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110453508	110453508	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:110453508C>T	ENST00000378402.5	+	34	4208	c.4104C>T	c.(4102-4104)tcC>tcT	p.S1368S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1368	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.S1370S(1)		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)			TTCTAGGGTCCATCCCTTGCA	0.303000										HNSCC(38;0.096)			3	11					0	0	0.004672	0	0
PDZD2	23037	broad.mit.edu	37	5	32071494	32071494	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:32071494C>T	ENST00000438447.1	+	16	2926	c.2538C>T	c.(2536-2538)acC>acT	p.T846T	PDZD2_ENST00000282493.3_Silent_p.T846T			O15018	PDZD2_HUMAN	PDZ domain containing 2	846					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CAACAGGTACCCCCTTGAAGA	0.468000													23	74					0	0	0.003954	0	0
PKP1	5317	broad.mit.edu	37	1	201294248	201294248	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:201294248C>T	ENST00000263946.3	+	12	2328	c.2077C>T	c.(2077-2079)Cga>Tga	p.R693*	PKP1_ENST00000367324.3_Nonsense_Mutation_p.R672*|PKP1_ENST00000352845.3_Nonsense_Mutation_p.R693*	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	693					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CAACCTGTGCCGAAGCAGGTG	0.617000													32	60					0	0	0.012213	0	0
ZNF208	7757	broad.mit.edu	37	19	22157521	22157521	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:22157521T>A	ENST00000397126.4	-	4	463	c.315A>T	c.(313-315)aaA>aaT	p.K105N	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CATGTCCACATTTTTCATACC	0.333000													22	26					0	0	0.012319	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51960453	51960453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:51960453G>A	ENST00000321424.3	-	3	832	c.766C>T	c.(766-768)Caa>Taa	p.Q256*	SIGLEC8_ENST00000340550.5_Nonsense_Mutation_p.Q163*|SIGLEC8_ENST00000430817.1_Intron	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	256	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCATCTCCTTGGAAGACAGTC	0.572000													18	87					0	0	0.008871	0	0
NLRP13	126204	broad.mit.edu	37	19	56416475	56416475	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:56416475C>T	ENST00000588751.1	-	8	2475	c.2451G>A	c.(2449-2451)ctG>ctA	p.L817L	NLRP13_ENST00000342929.3_Silent_p.L817L			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	817							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGCATTTCTCCAGGCTGTGGA	0.537000													7	55					0	0	0.004482	0	0
HAND2	9464	broad.mit.edu	37	4	174450173	174450173	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:174450173G>A	ENST00000359562.4	-	1	1207	c.268C>T	c.(268-270)Ccg>Tcg	p.P90S	HAND2-AS1_ENST00000515310.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000512099.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	90					adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		cccaggcccgggggcccggcg	0.746000													12	6					0	0	0.013537	0	0
VPS13A	23230	broad.mit.edu	37	9	79853224	79853224	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:79853224C>T	ENST00000360280.3	+	19	2082	c.1822C>T	c.(1822-1824)Cca>Tca	p.P608S	VPS13A_ENST00000376636.3_Missense_Mutation_p.P608S|VPS13A_ENST00000357409.5_Missense_Mutation_p.P608S|VPS13A_ENST00000376634.4_Missense_Mutation_p.P608S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	608					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTTCAGACCTCCAAAAGAGGT	0.338000													13	33					0	0	0.004990	0	0
IRAK2	3656	broad.mit.edu	37	3	10219700	10219700	+	Silent	SNP	G	G	A	rs140169922		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:10219700G>A	ENST00000256458.4	+	2	363	c.273G>A	c.(271-273)ctG>ctA	p.L91L		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	91	Death.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	p.L91L(1)		breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						AGATCATCCTGAACTGTGAGT	0.597000													16	31					0	0	0.004007	0	0
GAD1	2571	broad.mit.edu	37	2	171702044	171702044	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:171702044C>T	ENST00000358196.3	+	8	1330	c.780C>T	c.(778-780)atC>atT	p.I260I		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	260					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TGTACAGCATCATGGCTGCTC	0.512000													21	66					0	0	0.003330	0	0
YAE1D1	57002	broad.mit.edu	37	7	39612009	39612009	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:39612009C>T	ENST00000223273.2	+	3	428	c.385C>T	c.(385-387)Cat>Tat	p.H129Y	YAE1D1_ENST00000448268.1_3'UTR|YAE1D1_ENST00000432096.2_Intron	NM_020192.3	NP_064577.1	Q9NRH1	CG036_HUMAN	Yae1 domain containing 1	129																	TCCACCGTCCCATGTTGTAGA	0.378000													38	56					0	0	0.006999	0	0
PLG	5340	broad.mit.edu	37	6	161152165	161152165	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:161152165G>A	ENST00000308192.9	+	11	1402	c.1339G>A	c.(1339-1341)Gag>Aag	p.E447K		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	447	Kringle 4.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CGTCAGGTGGGAGTACTGCAA	0.507000													26	43					0	0	0.003330	0	0
TNIK	23043	broad.mit.edu	37	3	170906620	170906620	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:170906620C>T	ENST00000436636.2	-	7	854	c.508_splice	c.e7-1	p.V170_splice	TNIK_ENST00000488470.1_Splice_Site_p.V170_splice|TNIK_ENST00000475336.1_Splice_Site_p.V170_splice|TNIK_ENST00000470834.1_Splice_Site_p.V170_splice|TNIK_ENST00000369326.5_Silent_p.V170V|TNIK_ENST00000341852.6_Splice_Site_p.V170_splice|TNIK_ENST00000284483.8_Splice_Site_p.V170_splice|TNIK_ENST00000460047.1_Splice_Site_p.V170_splice|TNIK_ENST00000357327.5_Splice_Site_p.V170_splice|TNIK_ENST00000538048.1_Silent_p.V170V	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	170	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTCCAAAGTCCACTATTTAAG	0.373000													10	19					0	0	0.010729	0	0
TNFRSF17	608	broad.mit.edu	37	16	12061492	12061492	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:12061492C>T	ENST00000053243.1	+	3	561	c.343C>T	c.(343-345)Ctt>Ttt	p.L115F	RP11-166B2.1_ENST00000532936.1_Intron|TNFRSF17_ENST00000396495.3_Missense_Mutation_p.L66F	NM_001192.2	NP_001183.2	Q02223	TNR17_HUMAN	tumor necrosis factor receptor superfamily, member 17	115					cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane				large_intestine(3)|lung(3)	6						TGAAATTATTCTTCCGAGAGG	0.478000			T	IL2	intestinal T-cell lymphoma								36	48					0	0	0.004289	0	0
SORCS3	22986	broad.mit.edu	37	10	106907396	106907396	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:106907396G>A	ENST00000369701.3	+	9	1551	c.1324G>A	c.(1324-1326)Gac>Aac	p.D442N		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	442						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CATCAGTACAGACGAGAACCA	0.468000													9	24					0	0	0.008291	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20488839	20488839	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:20488839C>T	ENST00000555186.1	+	0	322					NR_038836.1																						TCCTGAAGTTCTTGTTTCTGT	0.423000													9	38					0	0	0.006214	0	0
MNDA	4332	broad.mit.edu	37	1	158813786	158813786	+	Silent	SNP	G	G	A	rs140332455		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158813786G>A	ENST00000368141.4	+	4	705	c.444G>A	c.(442-444)agG>agA	p.R148R		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	148					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.R148R(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AAGCCAAAAGGAATAAGGTGT	0.443000													21	43					0	0	0.002780	0	0
C6orf10	10665	broad.mit.edu	37	6	32261670	32261670	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:32261670C>T	ENST00000375015.4	-	26	977	c.777G>A	c.(775-777)acG>acA	p.T259T	C6orf10_ENST00000527965.1_Silent_p.T244T|C6orf10_ENST00000447241.2_Silent_p.T260T|C6orf10_ENST00000442822.2_Silent_p.T251T|C6orf10_ENST00000533191.1_Silent_p.T258T|C6orf10_ENST00000375007.4_Silent_p.T258T			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	260						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CTACAGAATTCGTAAATATGA	0.393000													36	81					0	0	0.003271	0	0
HAUS6	54801	broad.mit.edu	37	9	19058421	19058421	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:19058421C>T	ENST00000380502.3	-	16	2811	c.2344G>A	c.(2344-2346)Gaa>Aaa	p.E782K	HAUS6_ENST00000380496.1_Missense_Mutation_p.E646K	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	782					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCAACTTCTTCCGGGAGAGTT	0.348000													4	33					0	0	0.000602	0	0
BIRC5	332	broad.mit.edu	37	17	76219625	76219625	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:76219625C>T	ENST00000301633.4	+	5	619	c.488C>T	c.(487-489)gCc>gTc	p.A163V	AC087645.1_ENST00000600484.1_Missense_Mutation_p.A219T|BIRC5_ENST00000589892.1_3'UTR|BIRC5_ENST00000374948.2_Missense_Mutation_p.P101S|BIRC5_ENST00000350051.3_Missense_Mutation_p.A140V	NM_001012271.1	NP_001012271.1	O15392	BIRC5_HUMAN	baculoviral IAP repeat containing 5	140					anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			CAGCTGGCTGCCATGGATTGA	0.547000													25	13					0	0	0.002780	0	0
RAB3IP	117177	broad.mit.edu	37	12	70150412	70150412	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:70150412G>A	ENST00000550536.1	+	3	984	c.527G>A	c.(526-528)cGa>cAa	p.R176Q	RAB3IP_ENST00000247833.7_Missense_Mutation_p.R160Q|RAB3IP_ENST00000483530.2_Missense_Mutation_p.R160Q|RAB3IP_ENST00000378815.6_Missense_Mutation_p.R160Q|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000362025.5_Missense_Mutation_p.R176Q	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	176					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			GGCTATGAACGATTAAAAGAA	0.383000													39	29					0	0	0.010771	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7518541	7518541	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:7518541C>T	ENST00000359920.6	+	7	1733	c.1480C>T	c.(1480-1482)Cag>Tag	p.Q494*	CTD-2207O23.3_ENST00000593531.1_Silent_p.F451F|ARHGEF18_ENST00000319670.9_Nonsense_Mutation_p.Q336*	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	494					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				AGACATGCTTCAGCGGCAGCT	0.587000													19	49					0	0	0.007413	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735698	55735698	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:55735698C>T	ENST00000312345.2	-	1	292	c.242G>A	c.(241-243)gGa>gAa	p.G81E		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G81E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AGAAATATTTCCTTTCTGAGT	0.383000													15	36					0	0	0.004990	0	0
ZNF214	7761	broad.mit.edu	37	11	7022082	7022082	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:7022082C>T	ENST00000278314.4	-	3	1147	c.832G>A	c.(832-834)Gat>Aat	p.D278N	ZNF214_ENST00000536068.1_Missense_Mutation_p.D278N	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TCAACTTCATCACATCCGTAC	0.433000													22	101					0	0	0.003330	0	0
MCF2	4168	broad.mit.edu	37	X	138684654	138684654	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:138684654C>T	ENST00000520602.1	-	19	2212	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N	MCF2_ENST00000414978.1_Missense_Mutation_p.D643N|MCF2_ENST00000370578.4_Missense_Mutation_p.D728N|MCF2_ENST00000519895.1_Missense_Mutation_p.D659N|MCF2_ENST00000370573.4_Missense_Mutation_p.D583N|MCF2_ENST00000370576.4_Missense_Mutation_p.D583N|MCF2_ENST00000338585.6_Missense_Mutation_p.D599N|MCF2_ENST00000536274.1_Missense_Mutation_p.D544N			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	583	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TGAAAATCATCCTTCTGTGAT	0.333000													34	14					0	0	0.012213	0	0
PLCH1	23007	broad.mit.edu	37	3	155200514	155200514	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:155200514C>T	ENST00000460012.1	-	23	3568	c.3211G>A	c.(3211-3213)Gaa>Aaa	p.E1071K	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Missense_Mutation_p.E1109K|PLCH1_ENST00000414191.1_Missense_Mutation_p.E1071K|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.E1071K			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1109					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTACCCTTTTCCTTGATTTTC	0.468000													21	85					0	0	0.012319	0	0
DDAH1	23576	broad.mit.edu	37	1	85824519	85824519	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:85824519C>T	ENST00000284031.8	-	2	409	c.315G>A	c.(313-315)atG>atA	p.M105I	DDAH1_ENST00000542148.1_Missense_Mutation_p.M5I|DDAH1_ENST00000539042.1_Missense_Mutation_p.M105I|DDAH1_ENST00000535924.2_Missense_Mutation_p.M2I|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000483110.1_5'UTR|RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000426972.3_Missense_Mutation_p.M12I	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	105					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	ATGCTTCTTTCATCATGTCAA	0.308000													19	58					0	0	0.012319	0	0
SLC4A8	9498	broad.mit.edu	37	12	51868847	51868847	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:51868847G>A	ENST00000453097.2	+	16	2246	c.2029G>A	c.(2029-2031)Gga>Aga	p.G677R	SLC4A8_ENST00000358657.3_Missense_Mutation_p.G704R|SLC4A8_ENST00000514353.3_Missense_Mutation_p.G624R|SLC4A8_ENST00000394856.1_Missense_Mutation_p.G624R	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	677					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GGAGATGCATGGAGAGTTCAT	0.478000													17	18					0	0	0.006122	0	0
TTBK1	84630	broad.mit.edu	37	6	43251423	43251423	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:43251423G>A	ENST00000259750.4	+	14	3028	c.2945G>A	c.(2944-2946)gGc>gAc	p.G982D		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	982						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CTGGAGAACGGCCTCGCCCTG	0.687000													14	32					0	0	0.002450	0	0
HERC1	8925	broad.mit.edu	37	15	64047438	64047438	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:64047438A>T	ENST00000443617.2	-	6	1707	c.1620T>A	c.(1618-1620)ttT>ttA	p.F540L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	540					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTAATCTTCCAAAGTCTCCTT	0.388000													9	16					0	0	0.004482	0	0
COPA	1314	broad.mit.edu	37	1	160263246	160263246	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:160263246G>A	ENST00000241704.7	-	26	2913	c.2684C>T	c.(2683-2685)tCc>tTc	p.S895F	COPA_ENST00000368069.3_Missense_Mutation_p.S904F	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	895					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGCCCCAGGGGATATATCCTA	0.473000													7	10					0	0	0.001984	0	0
UPB1	51733	broad.mit.edu	37	22	24911324	24911324	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:24911324G>A	ENST00000413389.2	+	6	2166	c.573G>A	c.(571-573)acG>acA	p.T191T	UPB1_ENST00000326010.5_Silent_p.T259T			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	259	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					CCTCGGCCACGATAGGAGCAC	0.612000													17	39					0	0	0.006122	0	0
OR51L1	119682	broad.mit.edu	37	11	5020604	5020604	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5020604C>T	ENST00000321543.1	+	1	392	c.392C>T	c.(391-393)cCa>cTa	p.P131L		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCTGCCATCCACTGCACTAC	0.493000													42	108					0	0	0.011902	0	0
FAAH	2166	broad.mit.edu	37	1	46872007	46872007	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:46872007C>T	ENST00000243167.8	+	7	1002	c.918C>T	c.(916-918)gaC>gaT	p.D306D	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	306					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	TCCGCTTGGACCCCACTGTGC	0.662000											OREG0013458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	34					0	0	0.007413	0	0
OR13C8	138802	broad.mit.edu	37	9	107331602	107331602	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:107331602G>A	ENST00000335040.1	+	1	154	c.154G>A	c.(154-156)Gat>Aat	p.D52N		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TATCATCTTTGATTCTCACCT	0.443000													75	103					0	0	0.014410	0	0
SLC17A1	6568	broad.mit.edu	37	6	25813407	25813407	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:25813407G>A	ENST00000244527.4	-	7	766	c.651C>T	c.(649-651)ttC>ttT	p.F217F	SLC17A1_ENST00000468082.1_Silent_p.F217F|SLC17A1_ENST00000476801.1_Silent_p.F217F|SLC17A1_ENST00000427328.1_Silent_p.F217F	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	217					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AAAACAGAACGAACCAGAGAA	0.458000													17	44					0	0	0.004990	0	0
CSMD3	114788	broad.mit.edu	37	8	113518964	113518964	+	Silent	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:113518964A>T	ENST00000297405.5	-	29	5095	c.4851T>A	c.(4849-4851)acT>acA	p.T1617T	CSMD3_ENST00000455883.2_Silent_p.T1513T|CSMD3_ENST00000352409.3_Silent_p.T1617T|CSMD3_ENST00000343508.3_Silent_p.T1577T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1617	CUB 9.					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						TGACGGTGATAGTCCAGTCAC	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	36					0	0	0.004482	0	0
MFI2	4241	broad.mit.edu	37	3	196744020	196744020	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:196744020G>A	ENST00000296350.5	-	7	967	c.854C>T	c.(853-855)gCc>gTc	p.A285V		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	285	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		ATCTGTGTCGGCCCGGACCAC	0.677000													9	23					0	0	0.010729	0	0
UBR2	23304	broad.mit.edu	37	6	42643911	42643911	+	Silent	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:42643911T>C	ENST00000372899.1	+	39	4627	c.4369T>C	c.(4369-4371)Tta>Cta	p.L1457L	UBR2_ENST00000372883.3_Intron|UBR2_ENST00000372901.1_Silent_p.L1457L	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1457					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CATACAGATCTTACTTACCTC	0.388000													20	156					0	0	0.002780	0	0
KRT19	3880	broad.mit.edu	37	17	39684413	39684413	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:39684413G>A	ENST00000361566.3	-	1	147	c.87C>T	c.(85-87)gtC>gtT	p.V29V		NM_002276.4	NP_002267.2			keratin 19											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				CGCGAAAGGCGACCCCCGGCC	0.716000													8	2					0	0	0.004482	0	0
SZT2	23334	broad.mit.edu	37	1	43881724	43881724	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:43881724C>T	ENST00000562955.1	+	6	724	c.724C>T	c.(724-726)Cgt>Tgt	p.R242C		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	242						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CAGTATGATTCGTCAGGGCAT	0.567000													6	23					0	0	0.003080	0	0
CDC73	79577	broad.mit.edu	37	1	193205437	193205437	+	Silent	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:193205437T>C	ENST00000367435.3	+	15	1552	c.1368T>C	c.(1366-1368)ggT>ggC	p.G456G	CDC73_ENST00000477868.1_Intron	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	456					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AGTTCAAAGGTTGGCCATGGC	0.448000													54	99					0	0	0.014410	0	0
SMC4	10051	broad.mit.edu	37	3	160119868	160119868	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:160119868G>A	ENST00000357388.3	+	3	756	c.305G>A	c.(304-306)gGa>gAa	p.G102E	SMC4_ENST00000344722.5_Missense_Mutation_p.G102E|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000469762.1_Missense_Mutation_p.G77E|SMC4_ENST00000462787.1_Missense_Mutation_p.G102E|SMC4_ENST00000360111.2_Missense_Mutation_p.G102E	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	102					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAAATTCTGGGACCTTTCCAT	0.353000													6	30					0	0	0.001168	0	0
NRG3	10718	broad.mit.edu	37	10	84711289	84711289	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:84711289C>T	ENST00000372142.2	+	6	730	c.456C>T	c.(454-456)atC>atT	p.I152I	NRG3_ENST00000404547.1_Silent_p.I373I|NRG3_ENST00000404576.2_Silent_p.I177I|NRG3_ENST00000372141.2_Silent_p.I373I|NRG3_ENST00000556918.1_Silent_p.I203I|NRG3_ENST00000537893.1_Silent_p.I23I|NRG3_ENST00000545131.1_Silent_p.I23I	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	373	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GAATTGTCATCGTGGGCATGT	0.353000													15	42					0	0	0.004990	0	0
ADAM23	8745	broad.mit.edu	37	2	207460839	207460839	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:207460839G>A	ENST00000264377.3	+	24	2640	c.2312G>A	c.(2311-2313)cGg>cAg	p.R771Q	ADAM23_ENST00000374415.3_Missense_Mutation_p.R771Q|ADAM23_ENST00000374416.1_Missense_Mutation_p.R771Q	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	771					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TGCAGTATCCGGGATCCAGTT	0.448000													12	30					0	0	0.001855	0	0
UNC13C	440279	broad.mit.edu	37	15	54305702	54305702	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:54305702G>A	ENST00000545554.1	+	1	602	c.602G>A	c.(601-603)aGc>aAc	p.S201N	UNC13C_ENST00000260323.11_Missense_Mutation_p.S201N|UNC13C_ENST00000537900.1_Missense_Mutation_p.S201N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	201					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCAGAGTTAAGCACCATGAAA	0.458000													22	73					0	0	0.012319	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144886274	144886274	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:144886274G>A	ENST00000369359.4	-	26	3409	c.3371C>T	c.(3370-3372)tCt>tTt	p.S1124F	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1124F|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S987F|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S987F|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1053F			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	987					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.S987C(2)		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)		AGGGGAAAAAGATGGGTTCTG	0.478000			T	PDGFRB	MPD								64	285					0	0	0.014410	0	0
TLL2	7093	broad.mit.edu	37	10	98182396	98182396	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:98182396C>T	ENST00000357947.3	-	6	952	c.727G>A	c.(727-729)Gag>Aag	p.E243K	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	243	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TGGCCCAGCTCGTGAGCCACA	0.552000													4	28					0	0	0.009096	0	0
FBN3	84467	broad.mit.edu	37	19	8152962	8152962	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:8152962G>A	ENST00000600128.1	-	52	6892	c.6478C>T	c.(6478-6480)Ctc>Ttc	p.L2160F	FBN3_ENST00000601739.1_Missense_Mutation_p.L2160F|FBN3_ENST00000270509.2_Missense_Mutation_p.L2160F			Q75N90	FBN3_HUMAN	fibrillin 3	2160	EGF-like 34; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GTCATCATGAGGCCAGGCTCA	0.627000													24	49					0	0	0.002780	0	0
CCDC173	129881	broad.mit.edu	37	2	170506914	170506914	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:170506914C>T	ENST00000447353.1	-	7	1182	c.1077G>A	c.(1075-1077)tgG>tgA	p.W359*		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173																		CTCTTTTTTCCCATTCAGCCT	0.313000													5	20					0	0	0.000602	0	0
ANKHD1	54882	broad.mit.edu	37	5	139908732	139908732	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:139908732C>T	ENST00000297183.6	+	29	6325	c.6201C>T	c.(6199-6201)tcC>tcT	p.S2067S	ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.S2067S|ANKHD1_ENST00000544120.1_Silent_p.S450S|ANKHD1_ENST00000360839.2_Silent_p.S2067S	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)			CTCACCCATCCAGTAGTCCCA	0.507000													5	73					0	0	0.000602	0	0
PDIA3	2923	broad.mit.edu	37	15	44062468	44062468	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:44062468C>T	ENST00000300289.5	+	11	1435	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	PDIA3_ENST00000538521.1_Silent_p.I409I	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	429	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		ACCCAAATATCGTCATAGCCA	0.383000													7	23					0	0	0.003080	0	0
RASGRP2	10235	broad.mit.edu	37	11	64507261	64507261	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:64507261G>A	ENST00000377494.1	-	6	1465	c.543C>T	c.(541-543)ttC>ttT	p.F181F	RASGRP2_ENST00000354024.3_Silent_p.F181F|RASGRP2_ENST00000377497.3_Silent_p.F181F|RASGRP2_ENST00000394432.3_Silent_p.F181F			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	181	Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CATGAGTCACGAAACTGTGAT	0.577000													19	36					0	0	0.010504	0	0
PCF11	51585	broad.mit.edu	37	11	82877056	82877056	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:82877056C>T	ENST00000298281.4	+	5	1569	c.1117C>T	c.(1117-1119)Cct>Tct	p.P373S		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	373	Lys-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ATCACCCTCACCTTTGAAAAA	0.313000													4	15					0	0	0.009096	0	0
DCAF15	90379	broad.mit.edu	37	19	14071304	14071304	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:14071304G>A	ENST00000254337.6	+	12	1680	c.1659G>A	c.(1657-1659)aaG>aaA	p.K553K		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	553										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						CCTACCGCAAGAGCTGCGTGG	0.677000											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	13					0	0	0.003080	0	0
ZNF33B	7582	broad.mit.edu	37	10	43088408	43088408	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:43088408G>A	ENST00000359467.3	-	5	2104	c.1990C>T	c.(1990-1992)Cct>Tct	p.P664S	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	664						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CATTTATAAGGCTTTTCTTGT	0.393000													8	48					0	0	0.008291	0	0
HLA-DRB1	3123	broad.mit.edu	37	6	32549490	32549490	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:32549490C>T	ENST00000360004.5	-	3	601	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K		NM_002124.3	NP_002115.2			major histocompatibility complex, class II, DR beta 1											large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GCCTTCTCTTCCTGGCCGTTC	0.557000										Multiple Myeloma(14;0.17)			9	23					0	0	0.003330	0	0
NUPL1	9818	broad.mit.edu	37	13	25894702	25894702	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:25894702C>T	ENST00000463407.1	+	8	888	c.745C>T	c.(745-747)Cct>Tct	p.P249S	NUPL1_ENST00000381736.3_Missense_Mutation_p.P249S|NUPL1_ENST00000466694.1_Intron|NUPL1_ENST00000381718.3_Missense_Mutation_p.P237S			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	249	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		AAATCTACCTCCTGTCATCTG	0.328000													7	51					0	0	0.008291	0	0
CHST9	83539	broad.mit.edu	37	18	24496504	24496504	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:24496504C>T	ENST00000284224.8	-	6	1328	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K	CHST9_ENST00000581714.1_Missense_Mutation_p.E351K|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000579964.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	351					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					CTGACCTTTTCCCAGTGAATG	0.393000													20	63					0	0	0.010504	0	0
CHRNA3	1136	broad.mit.edu	37	15	78894485	78894485	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:78894485G>A	ENST00000326828.5	-	5	883	c.499C>T	c.(499-501)Ccg>Tcg	p.P167S	CHRNA3_ENST00000348639.3_Missense_Mutation_p.P167S	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	167					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TAATCAAACGGGAAGTAGGTC	0.488000													18	76					0	0	0.002780	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159604007	159604007	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:159604007G>A	ENST00000337808.6	+	4	1467	c.890G>A	c.(889-891)gGg>gAg	p.G297E	IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.G65E|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.G284E|SCHIP1_ENST00000445224.2_Missense_Mutation_p.G54E|IQCJ-SCHIP1_ENST00000460298.1_Missense_Mutation_p.G257E|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.G346E|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.G373E|SCHIP1_ENST00000482804.1_Missense_Mutation_p.G70E	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN		297						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						CTGCAGAGTGGGATGAACTTG	0.443000													33	26					0	0	0.013726	0	0
SERTAD4	56256	broad.mit.edu	37	1	210415616	210415616	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:210415616C>T	ENST00000367012.3	+	4	1235	c.1005C>T	c.(1003-1005)tcC>tcT	p.S335S		NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	335							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		GGAAAAAGTCCTTACGGAAAA	0.388000													18	35					0	0	0.006122	0	0
AXDND1	126859	broad.mit.edu	37	1	179497543	179497543	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:179497543G>A	ENST00000367618.3	+	23	3079	c.2692G>A	c.(2692-2694)Gaa>Aaa	p.E898K		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	898	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ACCTCTATTTGAAACAGATGT	0.358000													8	34					0	0	0.004482	0	0
RYR2	6262	broad.mit.edu	37	1	237791306	237791306	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:237791306C>T	ENST00000366574.2	+	41	6683	c.6366C>T	c.(6364-6366)tcC>tcT	p.S2122S	RYR2_ENST00000542537.1_Silent_p.S2106S|RYR2_ENST00000360064.6_Silent_p.S2120S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2122	4 X approximate repeats.				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)			TGCTGGCATCCCTTGGTCAGA	0.498000													22	28					0	0	0.003330	0	0
TLL1	7092	broad.mit.edu	37	4	166935613	166935613	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:166935613C>T	ENST00000061240.2	+	8	1590	c.943C>T	c.(943-945)Ccc>Tcc	p.P315S	TLL1_ENST00000507499.1_Missense_Mutation_p.P315S|TLL1_ENST00000513213.1_Missense_Mutation_p.P315S	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	315	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			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)		TACCATTCTCCCCTCCCGTGA	0.438000													59	79					0	0	0.014410	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997229	19997229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:19997229C>T	ENST00000391403.2	-	1	649	c.546G>A	c.(544-546)tgG>tgA	p.W182*		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	182						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AATTTTCTTTCCAAGCATCTT	0.368000													32	56					0	0	0.003271	0	0
ANO5	203859	broad.mit.edu	37	11	22279281	22279281	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:22279281G>A	ENST00000324559.8	+	14	1705	c.1388G>A	c.(1387-1389)gGa>gAa	p.G463E		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	463						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTTCTTTCAGGAGCCACAGTG	0.368000													12	22					0	0	0.001855	0	0
PLB1	151056	broad.mit.edu	37	2	28849349	28849349	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:28849349G>A	ENST00000422425.2	+	50	3645	c.3601G>A	c.(3601-3603)Gac>Aac	p.D1201N	PLB1_ENST00000327757.5_Missense_Mutation_p.D1212N|PLB1_ENST00000541605.1_Missense_Mutation_p.D177N	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1212	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TGGGGTCAACGACTTGTGTCA	0.547000													6	32					0	0	0.001984	0	0
GZMA	3001	broad.mit.edu	37	5	54404140	54404140	+	Missense_Mutation	SNP	G	G	A	rs142064253		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:54404140G>A	ENST00000274306.6	+	4	580	c.545G>A	c.(544-546)cGa>cAa	p.R182Q		NM_006144.3	NP_006135.1	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	182	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TGCAATGATCGAAATCACTAT	0.428000													5	22					0	0	0.000602	0	0
DCDC1	341019	broad.mit.edu	37	11	31312362	31312362	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:31312362C>T	ENST00000597505.1	-	5	791	c.792G>A	c.(790-792)atG>atA	p.M264I	DCDC1_ENST00000452803.1_Missense_Mutation_p.M264I			P59894	DCDC1_HUMAN	doublecortin domain containing 1	264					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TCAACCCATTCATTGTCCAAG	0.338000													15	29					0	0	0.007413	0	0
ATP13A4	84239	broad.mit.edu	37	3	193201734	193201734	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:193201734C>T	ENST00000342695.4	-	8	1121	c.799G>A	c.(799-801)Ggg>Agg	p.G267R	ATP13A4_ENST00000295548.3_Missense_Mutation_p.G267R|ATP13A4_ENST00000392443.3_Missense_Mutation_p.G267R	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	267					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCTTTTCTCCCACATACAGAG	0.333000													31	70					0	0	0.003271	0	0
SLC15A2	6565	broad.mit.edu	37	3	121643813	121643813	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:121643813C>T	ENST00000489711.1	+	13	1445	c.1057C>T	c.(1057-1059)Ctt>Ttt	p.L353F	SLC15A2_ENST00000295605.2_Missense_Mutation_p.L322F	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	353					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CCTTCTGGTTCTTATCTTCAT	0.383000													25	98					0	0	0.004656	0	0
CELSR3	1951	broad.mit.edu	37	3	48685752	48685752	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:48685752C>T	ENST00000544264.1	-	20	7215	c.6935G>A	c.(6934-6936)aGg>aAg	p.R2312K	CELSR3_ENST00000164024.4_Missense_Mutation_p.R2307K			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2307					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TTCCATATTCCTTGCGAGTGT	0.657000													6	27					0	0	0.006214	0	0
PTPRF	5792	broad.mit.edu	37	1	44083235	44083235	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:44083235C>T	ENST00000359947.4	+	24	4531	c.4191C>T	c.(4189-4191)atC>atT	p.I1397I	PTPRF_ENST00000372414.3_Silent_p.I1397I|PTPRF_ENST00000372413.3_Silent_p.I1388I|PTPRF_ENST00000438120.1_Silent_p.I1388I|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Silent_p.I756I	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1397	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTACCTCTATCGATGGTGAGC	0.552000													50	109					0	0	0.014410	0	0
ZNF334	55713	broad.mit.edu	37	20	45131444	45131444	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:45131444C>T	ENST00000457685.2	-	6	1743	c.420G>A	c.(418-420)atG>atA	p.M140I	ZNF334_ENST00000347606.4_Missense_Mutation_p.M178I|ZNF334_ENST00000593880.1_Missense_Mutation_p.M201I			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGTATTTTTTCATTCCCAAAT	0.343000													24	40					0	0	0.002780	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558180	140558180	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140558180G>A	ENST00000239444.2	+	1	810	c.565G>A	c.(565-567)Ggc>Agc	p.G189S		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		189	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGCAGTGATGGCAGGAAATA	0.502000													6	21					0	0	0.001984	0	0
DTNA	1837	broad.mit.edu	37	18	32455268	32455268	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:32455268C>T	ENST00000283365.9	+	17	1908	c.1557C>T	c.(1555-1557)ccC>ccT	p.P519P	DTNA_ENST00000444659.1_Silent_p.P576P|DTNA_ENST00000399097.3_Silent_p.P224P|DTNA_ENST00000269192.7_Silent_p.P285P|DTNA_ENST00000269190.7_Silent_p.P577P|DTNA_ENST00000595022.1_Silent_p.P516P|DTNA_ENST00000590831.2_Silent_p.P2P|DTNA_ENST00000399113.3_Silent_p.P576P|DTNA_ENST00000556414.3_Silent_p.P228P|DTNA_ENST00000399121.5_Silent_p.P523P|DTNA_ENST00000598334.1_Silent_p.P516P|DTNA_ENST00000598142.1_Silent_p.P519P|DTNA_ENST00000591182.1_Silent_p.P224P|DTNA_ENST00000601125.1_Silent_p.P198P	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	576					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TTCCCATGCCCATCCGGTCAG	0.592000													21	46					0	0	0.010504	0	0
AE000661.37	0	broad.mit.edu	37	14	22933266	22933266	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:22933266G>A	ENST00000514473.2	-	0	225				TRDC_ENST00000390477.2_RNA|AE000661.37_ENST00000556777.1_RNA																							TGTTTGCAAAGACTGTTGCCG	0.448000													16	37					0	0	0.007413	0	0
VWA8	23078	broad.mit.edu	37	13	42259190	42259190	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:42259190G>A	ENST00000379310.3	-	35	4388	c.4320C>T	c.(4318-4320)taC>taT	p.Y1440Y		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		TACCTTTTGGGTAGATATCTT	0.363000													17	18					0	0	0.008871	0	0
ZNF480	147657	broad.mit.edu	37	19	52803732	52803732	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:52803732C>T	ENST00000595962.1	+	2	133	c.67C>T	c.(67-69)Cct>Tct	p.P23S	ZNF480_ENST00000335090.6_5'UTR|ZNF480_ENST00000334564.7_Missense_Mutation_p.P23S|ZNF480_ENST00000490272.1_Missense_Mutation_p.P23S	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GATGGCTCTTCCTCAGGTGAG	0.453000													28	60					0	0	0.007291	0	0
ITM2C	81618	broad.mit.edu	37	2	231742769	231742769	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:231742769C>T	ENST00000326427.6	+	6	885	c.759C>T	c.(757-759)ttC>ttT	p.F253F	ITM2C_ENST00000335005.6_Silent_p.F206F|ITM2C_ENST00000409704.2_Silent_p.F191F|ITM2C_ENST00000326407.6_Silent_p.F216F	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	253					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TCCGCCACTTCGAGAACACCT	0.582000													14	35					0	0	0.003163	0	0
EPB41L1	2036	broad.mit.edu	37	20	34810307	34810307	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:34810307G>A	ENST00000338074.2	+	21	2789	c.2628G>A	c.(2626-2628)aaG>aaA	p.K876K	EPB41L1_ENST00000202028.5_Silent_p.K774K|EPB41L1_ENST00000373946.3_Silent_p.K696K|EPB41L1_ENST00000373950.2_Silent_p.K767K|EPB41L1_ENST00000441639.1_Silent_p.K774K|EPB41L1_ENST00000373941.1_Silent_p.K875K	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	876	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGAGGGACAAGAAGCCACAGG	0.542000													18	26					0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179439647	179439647	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179439647C>T	ENST00000589042.1	-	326	71436	c.71212G>A	c.(71212-71214)Gaa>Aaa	p.E23738K	TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E14673K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E14798K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E21170K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E14865K|TTN_ENST00000591111.1_Missense_Mutation_p.E22097K|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22097	Fibronectin type-III 72.						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)			GATGAAACTTCATCAAATTTG	0.448000													8	15					0	0	0.004482	0	0
TCEA2	6919	broad.mit.edu	37	20	62701940	62701940	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:62701940C>T	ENST00000361317.2	+	9	1132	c.690C>T	c.(688-690)gaC>gaT	p.D230D	TCEA2_ENST00000395053.3_3'UTR|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000343484.5_Silent_p.D257D	NM_198723.1	NP_942016.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	257	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CGCAGACAGACCTGTTCACCT	0.627000													6	10					0	0	0.001168	0	0
MMP27	64066	broad.mit.edu	37	11	102575416	102575416	+	Missense_Mutation	SNP	C	C	T	rs139015378		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:102575416C>T	ENST00000260229.4	-	2	284	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	65					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.E65K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		GCTTGCATTTCCCGAATTTTG	0.433000													11	28					0	0	0.008291	0	0
CCNA1	8900	broad.mit.edu	37	13	37016772	37016772	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:37016772G>A	ENST00000418263.1	+	9	1715	c.1365G>A	c.(1363-1365)atG>atA	p.M455I	CCNA1_ENST00000255465.4_Missense_Mutation_p.M456I|CCNA1_ENST00000440264.1_Missense_Mutation_p.M412I|CCNA1_ENST00000449823.1_Missense_Mutation_p.M412I	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	456					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TGTCCCTCATGGAGCCACCTG	0.443000													9	38					0	0	0.006214	0	0
MICAL3	57553	broad.mit.edu	37	22	18300928	18300928	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:18300928T>C	ENST00000441493.2	-	26	4851	c.4499A>G	c.(4498-4500)gAg>gGg	p.E1500G		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1500	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTGAGCAGGCTCCCGGGGGGG	0.667000													4	12					0	0	0.009096	0	0
CEP250	11190	broad.mit.edu	37	20	34078584	34078584	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:34078584C>T	ENST00000397527.1	+	21	3428	c.2708C>T	c.(2707-2709)gCc>gTc	p.A903V	RP3-477O4.14_ENST00000453914.1_RNA|CEP250_ENST00000342580.4_Intron|RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	903	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCCATCCAGGCCCAGAGGGAA	0.552000													44	64					0	0	0.014410	0	0
CNTN3	5067	broad.mit.edu	37	3	74350893	74350893	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:74350893G>T	ENST00000263665.6	-	14	1877	c.1850C>A	c.(1849-1851)tCt>tAt	p.S617Y		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	617	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTCTTTCCAAGAGAGTTGGGC	0.448000													20	47					9.95505e-16	1.09148e-15	0.014323	1	0
PCF11	51585	broad.mit.edu	37	11	82877057	82877057	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:82877057C>T	ENST00000298281.4	+	5	1570	c.1118C>T	c.(1117-1119)cCt>cTt	p.P373L		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	373	Lys-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TCACCCTCACCTTTGAAAAAC	0.313000													4	14					0	0	0.009096	0	0
CYP4F12	66002	broad.mit.edu	37	19	15793264	15793264	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15793264C>T	ENST00000550308.1	+	6	971	c.591C>T	c.(589-591)ctC>ctT	p.L197L	CYP4F12_ENST00000324632.9_Silent_p.L197L	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					ACATCAGCCTCATGACCTTGG	0.532000													26	55					0	0	0.012213	0	0
COL6A3	1293	broad.mit.edu	37	2	238303252	238303252	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:238303252C>T	ENST00000295550.4	-	3	1139	c.687G>A	c.(685-687)acG>acA	p.T229T	COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000347401.3_Silent_p.T229T|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000346358.4_Silent_p.T229T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	229	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TAAGGGTTTCCGTGTCCCCAG	0.488000													13	24					0	0	0.003163	0	0
GARS	2617	broad.mit.edu	37	7	30642717	30642717	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:30642717C>T	ENST00000389266.3	+	5	878	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	213					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	AGAATGTTTTCGTGCTGACCA	0.353000													25	42					0	0	0.004656	0	0
CASS4	57091	broad.mit.edu	37	20	55012393	55012393	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:55012393C>T	ENST00000371336.3	+	2	411	c.210C>T	c.(208-210)atC>atT	p.I70I	CASS4_ENST00000434344.1_Silent_p.I70I|CASS4_ENST00000360314.3_Silent_p.I70I	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	70	SH3.				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GCCTCCAAATCCTCACGGAGG	0.612000													6	38					0	0	0.001984	0	0
DNAH2	146754	broad.mit.edu	37	17	7695363	7695363	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:7695363G>A	ENST00000572933.1	+	45	8489	c.7029G>A	c.(7027-7029)gaG>gaA	p.E2343E	DNAH2_ENST00000389173.2_Silent_p.E2343E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2343					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACCTCCGAGAGATCGAGGGCT	0.557000													15	20					0	0	0.004007	0	0
ZAN	7455	broad.mit.edu	37	7	100371412	100371412	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100371412C>T	ENST00000542585.1	+	0	5851				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACAACAACATCACCTGCTTCC	0.622000													8	10					0	0	0.006214	0	0
C3orf22	152065	broad.mit.edu	37	3	126270914	126270914	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:126270914G>A	ENST00000318225.2	-	3	519	c.141C>T	c.(139-141)gtC>gtT	p.V47V		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	47										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		AGTCGTTTGTGACCTCCCAGG	0.617000													16	44					0	0	0.004007	0	0
PANK2	80025	broad.mit.edu	37	20	3869920	3869920	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:3869920C>T	ENST00000316562.4	+	1	179	c.173C>T	c.(172-174)cCt>cTt	p.P58L	PANK2_ENST00000497424.1_Intron	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	58					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GTCAATCCTCCTCGAGTTAGG	0.682000													6	6					0	0	0.001168	0	0
FSIP2	401024	broad.mit.edu	37	2	186672248	186672248	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:186672248C>T	ENST00000343098.5	+	17	18482	c.18482C>T	c.(18481-18483)aCc>aTc	p.T6161I	FSIP2_ENST00000424728.1_Missense_Mutation_p.T6072I	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TATGTAGAAACCTTACAATCT	0.318000													26	122					0	0	0.003954	0	0
OR8D2	283160	broad.mit.edu	37	11	124189535	124189535	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:124189535G>A	ENST00000357438.2	-	1	649	c.559C>T	c.(559-561)Ctg>Ttg	p.L187L		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		GAGCAAGACAGAGTCAATAAG	0.438000													16	19					0	0	0.004990	0	0
CUL9	23113	broad.mit.edu	37	6	43173766	43173766	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:43173766C>T	ENST00000252050.4	+	25	4899	c.4815C>T	c.(4813-4815)ctC>ctT	p.L1605L	CUL9_ENST00000372647.2_Silent_p.L1605L|CUL9_ENST00000354495.3_Silent_p.L1495L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1605					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CGGACCGTCTCCTGAGCTTTG	0.627000													18	43					0	0	0.003954	0	0
S100A14	57402	broad.mit.edu	37	1	153587382	153587382	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:153587382C>T	ENST00000368702.1	-	5	566	c.294G>A	c.(292-294)gaG>gaA	p.E98E	S100A14_ENST00000368700.3_5'UTR|S100A14_ENST00000476873.1_Silent_p.E98E|S100A14_ENST00000368701.1_Silent_p.E98E|S100A14_ENST00000344616.2_Silent_p.E98E			Q9HCY8	S10AE_HUMAN	S100 calcium binding protein A14	98					calcium ion homeostasis|defense response to bacterium|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|toll-like receptor 4 signaling pathway	cell junction|microtubule cytoskeleton|perinuclear region of cytoplasm	calcium ion binding|chemokine receptor binding			kidney(2)|large_intestine(1)|lung(1)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGACAGGCCTCTCCAGCTTCA	0.542000													12	39					0	0	0.001855	0	0
HEPHL1	341208	broad.mit.edu	37	11	93800694	93800694	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:93800694G>A	ENST00000315765.9	+	5	849	c.841G>A	c.(841-843)Gag>Aag	p.E281K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	281	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AAACTTCCCGGAGCCTGATAT	0.468000													18	99					0	0	0.006122	0	0
VPS13B	157680	broad.mit.edu	37	8	100844860	100844860	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:100844860G>A	ENST00000358544.2	+	52	9780	c.9669G>A	c.(9667-9669)cgG>cgA	p.R3223R	VPS13B_ENST00000357162.2_Silent_p.R3198R|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3223					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GGAATTTCCGGGAAAATGGAT	0.463000													9	48					0	0	0.006214	0	0
DNAH10	196385	broad.mit.edu	37	12	124387620	124387620	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:124387620G>A	ENST00000409039.3	+	56	9446	c.9421G>A	c.(9421-9423)Gaa>Aaa	p.E3141K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3141	Stalk (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)		CGCCAAGCTGGAACTGCAGAA	0.567000													10	6					0	0	0.010729	0	0
LRCH4	4034	broad.mit.edu	37	7	100172796	100172796	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100172796G>A	ENST00000310300.6	-	18	2038	c.1986C>T	c.(1984-1986)ttC>ttT	p.F662F	LRCH4_ENST00000497245.1_Silent_p.F210F	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	662					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGAAGACGACGAAGCCGCCCA	0.682000													5	23					0	0	0.001168	0	0
MYO5B	4645	broad.mit.edu	37	18	47421510	47421510	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:47421510G>T	ENST00000285039.7	-	22	3145	c.2846C>A	c.(2845-2847)tCc>tAc	p.S949Y	MYO5B_ENST00000324581.6_Missense_Mutation_p.S90Y	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	949					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGTGGTCACGGACAACTGCTC	0.512000													16	42					1.02788e-11	1.12534e-11	0.004990	1	0
SCN7A	6332	broad.mit.edu	37	2	167298046	167298046	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:167298046C>T	ENST00000409855.1	-	14	2143	c.2017G>A	c.(2017-2019)Gac>Aac	p.D673N		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	673					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						TGGAAAAAGTCATGCATGTGC	0.468000													10	37					0	0	0.010729	0	0
PARP8	79668	broad.mit.edu	37	5	50084408	50084408	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:50084408G>A	ENST00000281631.5	+	10	880	c.722G>A	c.(721-723)gGa>gAa	p.G241E	PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000505554.1_Missense_Mutation_p.G220E|PARP8_ENST00000505697.2_Missense_Mutation_p.G241E|PARP8_ENST00000514067.2_Missense_Mutation_p.G241E|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Missense_Mutation_p.G241E	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	241						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TTTGGATTGGGACATCAGCTG	0.343000													5	16					0	0	0.001168	0	0
C18orf54	162681	broad.mit.edu	37	18	51904574	51904574	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:51904574C>T	ENST00000300091.5	+	8	1409	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D	C18orf54_ENST00000382911.4_Silent_p.D520D|C18orf54_ENST00000578138.1_Silent_p.D138D|C18orf54_ENST00000582188.1_3'UTR	NM_173529.4	NP_775800.3	Q8IYD9	CR054_HUMAN	chromosome 18 open reading frame 54	359						extracellular region				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		GCCTGAGAGACCTGGTTGATG	0.378000													6	13					0	0	0.004482	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117960038	117960038	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:117960038G>A	ENST00000310164.2	+	4	1338	c.831G>A	c.(829-831)gtG>gtA	p.V277V		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						ATGAGGATGTGATCCTGGTGG	0.572000													22	18					0	0	0.014323	0	0
TECTA	7007	broad.mit.edu	37	11	120979979	120979979	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:120979979C>T	ENST00000392793.1	+	4	529	c.258C>T	c.(256-258)tcC>tcT	p.S86S	TECTA_ENST00000264037.2_Silent_p.S86S			O75443	TECTA_HUMAN	tectorin alpha	86					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CGCCAGAATCCTTTCCCCTGA	0.488000													8	21					0	0	0.004482	0	0
NEU2	4759	broad.mit.edu	37	2	233898940	233898940	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:233898940C>T	ENST00000233840.3	+	2	316	c.316C>T	c.(316-318)Cct>Tct	p.P106S		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	106							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CATTGCCATCCCTGGGCAAGT	0.647000													24	43					0	0	0.003330	0	0
NLRP7	199713	broad.mit.edu	37	19	55449535	55449535	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55449535G>A	ENST00000588756.1	-	7	2492	c.2006C>T	c.(2005-2007)tCt>tTt	p.S669F	NLRP7_ENST00000448121.2_Intron|NLRP7_ENST00000592784.1_Missense_Mutation_p.S669F|NLRP7_ENST00000590030.1_Missense_Mutation_p.S669F|NLRP7_ENST00000340844.2_Missense_Mutation_p.S669F|NLRP7_ENST00000328092.5_Intron|NLRP7_ENST00000446217.1_Missense_Mutation_p.S697F			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	669							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCTGAAGAGAGAGCAGAAATC	0.502000													45	98					0	0	0.014410	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136315040	136315040	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:136315040C>T	ENST00000371929.3	+	23	3442	c.2998C>T	c.(2998-3000)Cgc>Tgc	p.R1000C	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R969C|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R1000C	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1000	TSP type-1 6.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGGGCTGCCTCGCCCGGAACC	0.677000													8	19					0	0	0.003080	0	0
OR10A5	144124	broad.mit.edu	37	11	6866952	6866952	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:6866952C>T	ENST00000299454.4	+	1	70	c.39C>T	c.(37-39)atC>atT	p.I13I	OR10A5_ENST00000379831.2_Silent_p.I17I			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTGAATTTATCCTCATGAGCT	0.408000													47	123					0	0	0.014410	0	0
GHSR	2693	broad.mit.edu	37	3	172166133	172166133	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:172166133G>A	ENST00000241256.2	-	1	113	c.71C>T	c.(70-72)tCc>tTc	p.S24F	GHSR_ENST00000427970.1_Missense_Mutation_p.S24F	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	24					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GTTGCCGGGGGAAGCATCCCA	0.687000													5	19					0	0	0.000602	0	0
C8B	732	broad.mit.edu	37	1	57399055	57399055	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:57399055G>A	ENST00000543257.1	-	11	1915	c.1349C>T	c.(1348-1350)tCc>tTc	p.S450F	C8B_ENST00000535057.1_Missense_Mutation_p.S440F|C8B_ENST00000371237.4_Missense_Mutation_p.S502F	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	502	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.S502F(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACAGTGGCAGGAACTAACTTC	0.522000													28	56					0	0	0.009535	0	0
RPRD2	23248	broad.mit.edu	37	1	150444874	150444874	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:150444874C>T	ENST00000401000.4	+	10	3437	c.3372C>T	c.(3370-3372)tcC>tcT	p.S1124S	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Silent_p.S1150S			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1150							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGTTGGCATCCCTTGGGGGTG	0.552000													7	24					0	0	0.001984	0	0
DNAH7	56171	broad.mit.edu	37	2	196651834	196651834	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:196651834C>T	ENST00000312428.6	-	58	10878	c.10778G>A	c.(10777-10779)cGg>cAg	p.R3593Q	DNAH7_ENST00000409063.1_Missense_Mutation_p.R76Q	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3593	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCAAATTTCCGTCTTTCTTG	0.413000													22	37					0	0	0.012319	0	0
SLC35F4	341880	broad.mit.edu	37	14	58055999	58055999	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:58055999G>A	ENST00000556826.1	-	3	758	c.522C>T	c.(520-522)ttC>ttT	p.F174F	SLC35F4_ENST00000339762.6_Silent_p.F210F|SLC35F4_ENST00000554729.1_Silent_p.F51F	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AATAGACTGGGAAAAACATAA	0.348000													17	42					0	0	0.004007	0	0
RASSF2	9770	broad.mit.edu	37	20	4768320	4768320	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:4768320A>G	ENST00000379400.3	-	10	967	c.772T>C	c.(772-774)Ttc>Ctc	p.F258L	RASSF2_ENST00000379376.2_Missense_Mutation_p.F258L|RASSF2_ENST00000478553.1_5'UTR	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	258	Ras-associating.				cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TCCATTAGGAACACTTTGGAG	0.557000													16	27					0	0	0.004007	0	0
FIBIN	387758	broad.mit.edu	37	11	27016343	27016343	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:27016343G>A	ENST00000318627.2	+	1	716	c.270G>A	c.(268-270)caG>caA	p.Q90Q		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	90						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						TGGGCCGCCAGGTGGAGGATG	0.667000													7	14					0	0	0.001984	0	0
ARPP21	10777	broad.mit.edu	37	3	35833970	35833970	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:35833970G>A	ENST00000187397.4	+	19	2585	c.2129G>A	c.(2128-2130)gGa>gAa	p.G710E	ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000458225.1_Missense_Mutation_p.G711E|ARPP21_ENST00000337271.5_Missense_Mutation_p.G691E|ARPP21_ENST00000417925.1_Missense_Mutation_p.G711E|ARPP21_ENST00000444190.1_Missense_Mutation_p.G691E	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	710	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AACCAACAAGGAACTCCGGTG	0.463000													18	42					0	0	0.006122	0	0
ATM	472	broad.mit.edu	37	11	108159737	108159737	+	Silent	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:108159737T>C	ENST00000278616.4	+	28	4528	c.4143T>C	c.(4141-4143)ttT>ttC	p.F1381F	ATM_ENST00000452508.2_Silent_p.F1381F	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1381	Interaction with ABL1.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CACCTCATTTTCCATCGCATG	0.343000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			18	54					0	0	0.012319	0	0
NT5DC2	64943	broad.mit.edu	37	3	52562323	52562323	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:52562323G>A	ENST00000307076.4	-	6	936	c.536C>T	c.(535-537)cCc>cTc	p.P179L	NT5DC2_ENST00000459839.1_Missense_Mutation_p.P191L|NT5DC2_ENST00000307092.4_Missense_Mutation_p.P120L|NT5DC2_ENST00000422318.2_Missense_Mutation_p.P216L	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	179							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CTTAATGGAGGGACCCTGGGG	0.582000													14	79					0	0	0.003163	0	0
IFT52	51098	broad.mit.edu	37	20	42265791	42265791	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:42265791C>T	ENST00000373030.3	+	12	1148	c.1018C>T	c.(1018-1020)Cct>Tct	p.P340S	IFT52_ENST00000373039.4_Missense_Mutation_p.P340S	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog (Chlamydomonas)	340						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TTAGGTTTTTCCTCCCAGTTT	0.398000													25	44					0	0	0.002780	0	0
PARD3	56288	broad.mit.edu	37	10	34759087	34759087	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:34759087G>A	ENST00000374789.3	-	4	833	c.508C>T	c.(508-510)Ccc>Tcc	p.P170S	PARD3_ENST00000340077.5_Missense_Mutation_p.P170S|PARD3_ENST00000374776.1_Missense_Mutation_p.P170S|PARD3_ENST00000545260.1_Missense_Mutation_p.P170S|PARD3_ENST00000374773.1_Missense_Mutation_p.P170S|PARD3_ENST00000350537.4_Missense_Mutation_p.P170S|PARD3_ENST00000545693.1_Missense_Mutation_p.P170S|PARD3_ENST00000374790.3_Missense_Mutation_p.P170S|PARD3_ENST00000346874.4_Missense_Mutation_p.P170S|PARD3_ENST00000374794.3_Missense_Mutation_p.P170S|PARD3_ENST00000374788.3_Missense_Mutation_p.P170S	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	170					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CAGCGTGTGGGATTTTTCCTT	0.498000													10	44					0	0	0.010729	0	0
MORC1	27136	broad.mit.edu	37	3	108682323	108682323	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:108682323A>C	ENST00000232603.5	-	27	2819	c.2737T>G	c.(2737-2739)Tct>Gct	p.S913A	MORC1_ENST00000483760.1_Missense_Mutation_p.S892A	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	913					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTATCCTCAGAGATTTTTCTT	0.343000													12	42					0	0	0.001855	0	0
ATRX	546	broad.mit.edu	37	X	76952146	76952146	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:76952146G>A	ENST00000373344.5	-	5	503	c.289C>T	c.(289-291)Cct>Tct	p.P97S	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.P97S|ATRX_ENST00000373341.1_Missense_Mutation_p.P58S	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	97					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCATCCAAAGGTTTTTCATCA	0.299000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						37	19					0	0	0.004289	0	0
UNC5D	137970	broad.mit.edu	37	8	35453116	35453116	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:35453116C>T	ENST00000287272.2	+	4	531	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S	UNC5D_ENST00000404895.2_Missense_Mutation_p.P171S|UNC5D_ENST00000453357.2_Missense_Mutation_p.P166S|UNC5D_ENST00000416672.1_Missense_Mutation_p.P171S|UNC5D_ENST00000420357.1_Missense_Mutation_p.P171S			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	171	Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AAGGGAAGTTCCCATTGAAGG	0.493000													31	89					0	0	0.013726	0	0
SULT6B1	391365	broad.mit.edu	37	2	37395156	37395156	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:37395156C>T	ENST00000535679.1	-	7	833	c.834G>A	c.(832-834)atG>atA	p.M278I	SULT6B1_ENST00000260637.3_Missense_Mutation_p.M240I|SULT6B1_ENST00000407963.1_Missense_Mutation_p.M240I|SULT6B1_ENST00000379149.2_Missense_Mutation_p.M174I			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	278						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				ATTTTTCATCCATTTCCTGGT	0.398000													14	45					0	0	0.002450	0	0
PRUNE2	158471	broad.mit.edu	37	9	79267532	79267532	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:79267532G>A	ENST00000428286.1	-	11	8547	c.7347C>T	c.(7345-7347)atC>atT	p.I2449I	PRUNE2_ENST00000223609.6_Silent_p.I72I|PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000443509.2_Silent_p.I57I|PRUNE2_ENST00000376718.3_Silent_p.I2808I			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2808					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAGAAAGATTGATATTTGGGG	0.408000													25	124					0	0	0.003954	0	0
CELSR3	1951	broad.mit.edu	37	3	48677424	48677424	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:48677424C>T	ENST00000544264.1	-	35	9889	c.9609G>A	c.(9607-9609)tcG>tcA	p.S3203S	CELSR3_ENST00000164024.4_Silent_p.S3198S			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3198					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCCGAGAGTTCGAGCTCCTAG	0.662000													14	36					0	0	0.001855	0	0
SLC28A2	9153	broad.mit.edu	37	15	45556876	45556876	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:45556876G>A	ENST00000347644.3	+	7	677	c.612G>A	c.(610-612)tcG>tcA	p.S204S	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	204					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	p.S204S(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		CAGTGTTTTCGGGCCTAGGTC	0.418000													21	48					0	0	0.002780	0	0
GUSBP11	91316	broad.mit.edu	37	22	23982586	23982586	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:23982586C>T	ENST00000430707.2	-	0	363																											TGGCGCCAGTCCAGGAGCCAC	0.607000													10	23					0	0	0.002450	0	0
PGPEP1L	145814	broad.mit.edu	37	15	99512832	99512832	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:99512832C>T	ENST00000535714.1	-	4	836	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	PGPEP1L_ENST00000378919.6_Missense_Mutation_p.E65K|RP11-654A16.3_ENST00000559468.1_RNA	NM_001167902.1	NP_001161374.1	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	65					proteolysis		cysteine-type peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						CCAGACTGTTCCAGAATGATC	0.632000													17	44					0	0	0.006122	0	0
UTRN	7402	broad.mit.edu	37	6	145069578	145069578	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:145069578C>T	ENST00000367545.3	+	54	8136	c.8136C>T	c.(8134-8136)tcC>tcT	p.S2712S	UTRN_ENST00000367526.4_Silent_p.S267S	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2712					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGGCAGAGTCCGTGCGGAATG	0.493000													10	25					0	0	0.006214	0	0
THEG	51298	broad.mit.edu	37	19	375932	375932	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:375932G>A	ENST00000342640.4	-	1	81	c.39C>T	c.(37-39)ccC>ccT	p.P13P	THEG_ENST00000346878.2_Silent_p.P13P	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	13					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CCTCAGAGCTGGGCTGGTTCC	0.682000													4	27					0	0	0.000602	0	0
MITF	4286	broad.mit.edu	37	3	70014315	70014315	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:70014315C>T	ENST00000352241.4	+	10	1642	c.1479C>T	c.(1477-1479)ctC>ctT	p.L493L	MITF_ENST00000448226.2_Silent_p.L499L|MITF_ENST00000394355.2_Silent_p.L468L|MITF_ENST00000328528.6_Silent_p.L492L|MITF_ENST00000472437.1_Silent_p.L441L|MITF_ENST00000394351.3_Silent_p.L392L|MITF_ENST00000531774.1_Silent_p.L330L|MITF_ENST00000314557.6_Silent_p.L386L|MITF_ENST00000314589.5_Silent_p.L477L	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	499					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CTGATCCACTCCTTTCCTCAG	0.542000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						18	32					0	0	0.008871	0	0
NAT10	55226	broad.mit.edu	37	11	34165011	34165011	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:34165011G>A	ENST00000257829.3	+	28	3111	c.2905G>A	c.(2905-2907)Gat>Aat	p.D969N	NAT10_ENST00000531159.2_Missense_Mutation_p.D897N|NAT10_ENST00000527971.1_Intron|NAT10_ENST00000532555.1_3'UTR	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	969	Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CCGTGGGGACGATGAAGAGTG	0.468000													6	21					0	0	0.003080	0	0
SLC16A9	220963	broad.mit.edu	37	10	61413485	61413485	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:61413485C>T	ENST00000395348.3	-	5	1935	c.1299G>A	c.(1297-1299)ggG>ggA	p.G433G	SLC16A9_ENST00000395347.1_Silent_p.G433G	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	433					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						ACATTAATATCCCATAGGCAT	0.403000													14	18					0	0	0.006122	0	0
OTUD7A	161725	broad.mit.edu	37	15	31862347	31862347	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:31862347C>T	ENST00000382902.1	-	2	297	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	OTUD7A_ENST00000307050.4_Missense_Mutation_p.V69M			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	69						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GCTGTGTGCACCTGGCGGAGC	0.572000													9	45					0	0	0.013537	0	0
CYP7A1	1581	broad.mit.edu	37	8	59404243	59404243	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:59404243G>A	ENST00000301645.3	-	6	1443	c.1306C>T	c.(1306-1308)Ccc>Tcc	p.P436S		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	436					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GATCCAAAGGGCATGTAGTAA	0.353000									Neonatal Giant Cell Hepatitis				11	102					0	0	0.010729	0	0
OR3A4P	390756	broad.mit.edu	37	17	3214243	3214243	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:3214243C>T	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							GTGTGGCCCCCTTGGTCCTCA	0.562000													32	32					0	0	0.010818	0	0
RPH3A	22895	broad.mit.edu	37	12	113306318	113306318	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:113306318G>A	ENST00000389385.4	+	8	1025	c.528G>A	c.(526-528)aaG>aaA	p.K176K	RPH3A_ENST00000548866.1_Silent_p.K127K|RPH3A_ENST00000447659.2_Silent_p.K127K|RPH3A_ENST00000551052.1_Silent_p.K172K|RPH3A_ENST00000415485.3_Silent_p.K176K|RPH3A_ENST00000543106.2_Silent_p.K176K|RPH3A_ENST00000420983.2_Silent_p.K176K|RPH3A_ENST00000549913.2_3'UTR	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	176	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AGAAGACCAAGCCCCAGCAGC	0.597000													31	18					0	0	0.010818	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798242	148798242	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:148798242G>A	ENST00000355220.5	+	5	1198	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	MAGEA11_ENST00000333104.4_Missense_Mutation_p.E337K	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	366	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TTGGGTGCAGGAAAAGTACCT	0.557000													70	42					0	0	0.014410	0	0
APOB	338	broad.mit.edu	37	2	21246531	21246531	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:21246531C>T	ENST00000233242.1	-	17	2597	c.2470G>A	c.(2470-2472)Gac>Aac	p.D824N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	824					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGAAAAAAGTCATTCTTTGAG	0.413000													98	158					0	0	0.014410	0	0
ZBTB14	7541	broad.mit.edu	37	18	5291963	5291963	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:5291963G>A	ENST00000357006.4	-	4	582	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C	ZBTB14_ENST00000400143.3_Missense_Mutation_p.R82C	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14																		ATATCAGAACGAAGAAAATCT	0.373000													8	32					0	0	0.003080	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458969	45458969	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:45458969C>T	ENST00000548424.1	+	0	448																											ATCAAAAGATCCTTGTATTTC	0.438000													7	6					0	0	0.004482	0	0
TM6SF1	53346	broad.mit.edu	37	15	83784641	83784641	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:83784641G>A	ENST00000322019.9	+	3	515	c.241G>A	c.(241-243)Gga>Aga	p.G81R	TM6SF1_ENST00000379386.4_Missense_Mutation_p.G81R|TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000565774.1_Missense_Mutation_p.G81R|TM6SF1_ENST00000379390.6_Missense_Mutation_p.G81R			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	81						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CCTCATCATAGGACTGGAGCA	0.418000													5	39					0	0	0.000602	0	0
WFS1	7466	broad.mit.edu	37	4	6303779	6303779	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:6303779G>A	ENST00000226760.1	+	8	2427	c.2257G>A	c.(2257-2259)Gag>Aag	p.E753K	WFS1_ENST00000503569.1_Missense_Mutation_p.E753K	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	753					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GGCCGAGGAGGAGCTCTGTCG	0.607000													45	122					0	0	0.014410	0	0
EMR1	2015	broad.mit.edu	37	19	6904116	6904116	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:6904116C>T	ENST00000312053.4	+	8	909	c.872C>T	c.(871-873)tCc>tTc	p.S291F	EMR1_ENST00000381404.4_Missense_Mutation_p.S239F|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000250572.8_Missense_Mutation_p.S291F|EMR1_ENST00000381407.5_Missense_Mutation_p.S150F	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	291	EGF-like 6; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GCCCTGGGCTCCTACAGCTGT	0.468000													15	41					0	0	0.006122	0	0
UMPS	7372	broad.mit.edu	37	3	124456812	124456812	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:124456812C>T	ENST00000232607.2	+	3	814	c.708C>T	c.(706-708)atC>atT	p.I236I	UMPS_ENST00000413078.2_Silent_p.I58I|UMPS_ENST00000498715.1_3'UTR|UMPS_ENST00000538242.1_Silent_p.I58I|UMPS_ENST00000536109.1_Silent_p.I144I	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	236	OMPdecase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		TGCCCAGGATCCACCCAGTTG	0.493000													5	45					0	0	0.001984	0	0
CRISP1	167	broad.mit.edu	37	6	49806236	49806236	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:49806236C>T	ENST00000335847.4	-	7	637	c.536G>A	c.(535-537)gGa>gAa	p.G179E	CRISP1_ENST00000355791.2_Missense_Mutation_p.G179E|CRISP1_ENST00000507853.1_Intron|CRISP1_ENST00000329411.5_Intron|CRISP1_ENST00000536021.1_Intron|CRISP1_ENST00000505118.1_Missense_Mutation_p.G179E	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	179					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					AGGATCATTTCCCCTTGAATA	0.343000													14	57					0	0	0.001855	0	0
SLIT3	6586	broad.mit.edu	37	5	168135005	168135005	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:168135005G>A	ENST00000519560.1	-	26	3239	c.2820C>T	c.(2818-2820)cgC>cgT	p.R940R	SLIT3_ENST00000404867.3_Silent_p.R940R|CTC-558O2.1_ENST00000521870.1_RNA|SLIT3_ENST00000332966.8_Silent_p.R947R|CTC-558O2.1_ENST00000522615.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	940	EGF-like 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCAGGCACAGCGGTACAGCT	0.617000													8	22					0	0	0.003080	0	0
BPIFA2	140683	broad.mit.edu	37	20	31761912	31761912	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:31761912G>A	ENST00000253362.2	+	4	476	c.330G>A	c.(328-330)ctG>ctA	p.L110L	BPIFA2_ENST00000354932.5_Silent_p.L110L			Q96DR5	SPLC2_HUMAN	BPI fold containing family A, member 2	110						extracellular region	lipid binding										CCCTCATCCTGGATGTCAAAG	0.527000													19	41					0	0	0.014323	0	0
LAMA4	3910	broad.mit.edu	37	6	112496546	112496546	+	Silent	SNP	G	G	A	rs3752580		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:112496546G>A	ENST00000230538.7	-	11	1723	c.1326C>T	c.(1324-1326)ctC>ctT	p.L442L	LAMA4_ENST00000424408.2_Silent_p.L435L|LAMA4_ENST00000522006.1_Silent_p.L435L|LAMA4_ENST00000389463.4_Silent_p.L435L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	442	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CCTCATCCACGAGCTCCCGTT	0.493000													30	70					0	0	0.009535	0	0
NGLY1	55768	broad.mit.edu	37	3	25775392	25775392	+	Nonsense_Mutation	SNP	G	G	A	rs146140738	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:25775392G>A	ENST00000428257.1	-	8	1284	c.1177C>T	c.(1177-1179)Cga>Tga	p.R393*	NGLY1_ENST00000417874.2_Nonsense_Mutation_p.R369*|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000396649.3_Nonsense_Mutation_p.R411*|NGLY1_ENST00000280700.5_Nonsense_Mutation_p.R411*|NGLY1_ENST00000467224.1_5'UTR	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	411					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	p.R411*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						ATAGTGTCTCGAAGTAATGCT	0.358000													18	42					0	0	0.010504	0	0
COG6	57511	broad.mit.edu	37	13	40301618	40301618	+	Missense_Mutation	SNP	C	C	T	rs144843064	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:40301618C>T	ENST00000416691.1	+	18	1859	c.1759C>T	c.(1759-1761)Cgt>Tgt	p.R587C	COG6_ENST00000455146.3_Missense_Mutation_p.R587C	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	587					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TCAGTTTGATCGTTATCTGTC	0.328000													8	80					0	0	0.003080	0	0
FMN2	56776	broad.mit.edu	37	1	240601449	240601449	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:240601449G>A	ENST00000319653.9	+	16	5229	c.4999G>A	c.(4999-5001)Gaa>Aaa	p.E1667K	FMN2_ENST00000545751.1_Missense_Mutation_p.E263K	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1667	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TATCTGGCATGAATTCAGCTC	0.388000													21	53					0	0	0.010504	0	0
EHMT2	10919	broad.mit.edu	37	6	31864784	31864784	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:31864784G>A	ENST00000395728.3	-	1	195	c.196C>T	c.(196-198)Cct>Tct	p.P66S	EHMT2_ENST00000375530.4_Intron|EHMT2_ENST00000375528.4_Missense_Mutation_p.P66S|EHMT2_ENST00000375537.4_Intron			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	616					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGGAGACAAGGGACAGGAGGG	0.647000													66	137					0	0	0.014410	0	0
RYR1	6261	broad.mit.edu	37	19	38964079	38964079	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:38964079G>A	ENST00000355481.4	+	28	3959	c.3828G>A	c.(3826-3828)tgG>tgA	p.W1276*	RYR1_ENST00000359596.3_Nonsense_Mutation_p.W1276*|RYR1_ENST00000360985.3_Nonsense_Mutation_p.W1276*	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1276	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACCGCACCTGGGGCTCCCAGA	0.677000													17	29					0	0	0.006122	0	0
DSG4	147409	broad.mit.edu	37	18	28968350	28968350	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:28968350G>A	ENST00000359747.4	+	4	266	c.237G>A	c.(235-237)tcG>tcA	p.S79S	DSG4_ENST00000308128.4_Silent_p.S79S|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	79	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACTGCGAATCGAACCAGAAGA	0.413000													11	24					0	0	0.010729	0	0
TRPM2	7226	broad.mit.edu	37	21	45837832	45837832	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:45837832G>A	ENST00000397928.1	+	21	3614	c.3169G>A	c.(3169-3171)Gag>Aag	p.E1057K	TRPM2_ENST00000300482.5_Missense_Mutation_p.E1057K|TRPM2_ENST00000397932.2_Missense_Mutation_p.E1057K|TRPM2_ENST00000300481.9_Missense_Mutation_p.E1037K|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1057						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCAGGTGCAGGAGCACACGGA	0.632000													6	9					0	0	0.003080	0	0
KIAA1324	57535	broad.mit.edu	37	1	109743402	109743402	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:109743402G>A	ENST00000369939.3	+	21	3036	c.2853G>A	c.(2851-2853)aaG>aaA	p.K951K	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Silent_p.K864K	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	951					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CTACTCTCAAGGACTGTGACC	0.488000											OREG0013630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	159	335					0	0	0.014410	0	0
OR4D11	219986	broad.mit.edu	37	11	59271645	59271645	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:59271645G>A	ENST00000313253.1	+	1	597	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						AGTTCTTGATGATTTCCAACA	0.498000													14	106					0	0	0.002450	0	0
GYS1	2997	broad.mit.edu	37	19	49489290	49489290	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:49489290G>A	ENST00000323798.3	-	4	691	c.495C>T	c.(493-495)ttC>ttT	p.F165F	GYS1_ENST00000544287.1_Intron|GYS1_ENST00000541188.1_Silent_p.F85F|GYS1_ENST00000263276.6_Silent_p.F101F|GYS1_ENST00000540532.1_Silent_p.F85F	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	165					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TCTGTGCCAGGAACTGTGGGC	0.582000													4	28					0	0	0.001168	0	0
AARS	16	broad.mit.edu	37	16	70311043	70311043	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:70311043G>A	ENST00000261772.8	-	3	302	c.159C>T	c.(157-159)ttC>ttT	p.F53F		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	53					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	TTGTGTTCAGGAAAATGGGTT	0.498000													17	39					0	0	0.006122	0	0
CMTM7	112616	broad.mit.edu	37	3	32483433	32483433	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:32483433G>A	ENST00000334983.5	+	2	497	c.261G>A	c.(259-261)atG>atA	p.M87I	CMTM7_ENST00000349718.4_Missense_Mutation_p.M87I	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing 7	87	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(2)	4						ACTTGATAATGATCCTCGCCT	0.557000													40	83					0	0	0.007835	0	0
NRXN1	9378	broad.mit.edu	37	2	51254720	51254720	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:51254720C>T	ENST00000404971.1	-	2	2031	c.692G>A	c.(691-693)gGa>gAa	p.G231E	NRXN1_ENST00000405472.3_Missense_Mutation_p.G231E|NRXN1_ENST00000405581.1_Missense_Mutation_p.G231E|NRXN1_ENST00000402717.3_Missense_Mutation_p.G231E|NRXN1_ENST00000401669.2_Missense_Mutation_p.G231E|NRXN1_ENST00000406859.3_Missense_Mutation_p.G231E|NRXN1_ENST00000406316.2_Missense_Mutation_p.G231E	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	231	EGF-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCACACACCTCCGTTGAGGCA	0.716000													16	6					0	0	0.006122	0	0
MAP7D1	55700	broad.mit.edu	37	1	36645561	36645561	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:36645561G>A	ENST00000316156.4	+	15	2747	c.2294G>A	c.(2293-2295)gGa>gAa	p.G765E	MAP7D1_ENST00000373151.2_Missense_Mutation_p.G803E|MAP7D1_ENST00000373148.4_Missense_Mutation_p.G339E|MAP7D1_ENST00000373150.4_Missense_Mutation_p.G770E			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	803						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				TCCACCAACGGACCCTCTGGG	0.597000													14	26					0	0	0.004007	0	0
CYP2F1	1572	broad.mit.edu	37	19	41627997	41627997	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:41627997C>T	ENST00000331105.2	+	6	853	c.781C>T	c.(781-783)Ccc>Tcc	p.P261S		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	261					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CCCCAGATCTCCCCGGGACTT	0.587000													5	40					0	0	0.000602	0	0
MYH11	4629	broad.mit.edu	37	16	15815375	15815375	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:15815375C>T	ENST00000338282.6	-	32	4588	c.4482G>A	c.(4480-4482)gaG>gaA	p.E1494E	MYH11_ENST00000396324.3_Silent_p.E1501E|MYH11_ENST00000300036.5_Silent_p.E1494E|MYH11_ENST00000452625.2_Silent_p.E1501E|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000576790.1_Silent_p.E1494E	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1494					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTTCCAAGGCCTCTTCAAGGG	0.542000			T	CBFB	AML								14	43					0	0	0.002450	0	0
ASTL	431705	broad.mit.edu	37	2	96789922	96789922	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:96789922C>T	ENST00000342380.2	-	9	962	c.963G>A	c.(961-963)agG>agA	p.R321R		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	321					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GGTCGGGGCTCCTGGATTCCG	0.657000													12	30					0	0	0.010729	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538404	27538404	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:27538404G>A	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							CAAATCCAAAGGTTGAACTGT	0.502000													24	96					0	0	0.003954	0	0
FREM1	158326	broad.mit.edu	37	9	14841568	14841568	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:14841568G>A	ENST00000380881.4	-	11	2576	c.1761C>T	c.(1759-1761)ttC>ttT	p.F587F	FREM1_ENST00000380880.3_Silent_p.F586F|FREM1_ENST00000422223.2_Silent_p.F586F			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	586					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCCTCTGAAGGAAGCCATGGA	0.378000													25	86					0	0	0.012213	0	0
NDNF	79625	broad.mit.edu	37	4	121957507	121957507	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:121957507G>A	ENST00000379692.4	-	4	2145	c.1619C>T	c.(1618-1620)tCt>tTt	p.S540F		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	540	Fibronectin type-III 2.									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						CAGCAGGTAAGATTTGCCAGG	0.403000													25	21					0	0	0.005443	0	0
ALPPL2	251	broad.mit.edu	37	2	233272048	233272048	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:233272048G>A	ENST00000295453.3	+	3	289	c.237G>A	c.(235-237)aaG>aaA	p.K79K		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	79					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GGCAGAAGAAGGACAAACTGG	0.587000													4	43					0	0	0.000602	0	0
LIPI	149998	broad.mit.edu	37	21	15538721	15538721	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:15538721C>T	ENST00000344577.2	-	5	783	c.758G>A	c.(757-759)gGa>gAa	p.G253E	LIPI_ENST00000536861.1_Missense_Mutation_p.G232E	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	232					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.G253E(2)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTGTTTATTTCCTCCATTTGG	0.343000													19	27					0	0	0.010504	0	0
SPATA16	83893	broad.mit.edu	37	3	172631501	172631501	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:172631501G>A	ENST00000351008.3	-	10	1720	c.1537C>T	c.(1537-1539)Ctt>Ttt	p.L513F		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	513					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTTCCTTCAAGGGTGTCCATA	0.358000													10	41					0	0	0.013537	0	0
NFATC1	4772	broad.mit.edu	37	18	77170528	77170528	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:77170528C>T	ENST00000253506.5	+	2	622	c.253C>T	c.(253-255)Cac>Tac	p.H85Y	NFATC1_ENST00000542384.1_Missense_Mutation_p.H85Y|NFATC1_ENST00000586434.1_Missense_Mutation_p.H72Y|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000591814.1_Missense_Mutation_p.H85Y|NFATC1_ENST00000329101.4_Missense_Mutation_p.H72Y|NFATC1_ENST00000427363.2_Missense_Mutation_p.H85Y|NFATC1_ENST00000587635.1_Missense_Mutation_p.H85Y|NFATC1_ENST00000318065.5_Missense_Mutation_p.H72Y|NFATC1_ENST00000592223.1_Missense_Mutation_p.H72Y|NFATC1_ENST00000545796.1_Intron	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	85					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GCCGGCGGATCACCCCTCGGG	0.726000													19	28					0	0	0.007413	0	0
TRBV27	28560	broad.mit.edu	37	7	142423402	142423402	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142423402G>A	ENST00000506718.1	+	0	410				TRBV27_ENST00000390399.3_RNA																							AGGCCCCCTGGAAGCCCAAGT	0.493000													8	37					0	0	0.003080	0	0
EGFLAM	133584	broad.mit.edu	37	5	38464033	38464033	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:38464033C>T	ENST00000322350.5	+	22	3321	c.2975C>T	c.(2974-2976)tCc>tTc	p.S992F	EGFLAM_ENST00000514476.1_Missense_Mutation_p.S135F|EGFLAM_ENST00000506135.1_Missense_Mutation_p.S135F|EGFLAM_ENST00000336740.6_Missense_Mutation_p.S758F|CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000354891.3_Missense_Mutation_p.S1000F|EGFLAM_ENST00000397210.3_Missense_Mutation_p.S135F|EGFLAM_ENST00000397202.2_Missense_Mutation_p.S358F	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	1000	Laminin G-like 3.					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)					TACCACATTTCCCTCGTGGAA	0.498000													17	37					0	0	0.006122	0	0
CFH	3075	broad.mit.edu	37	1	196716363	196716363	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:196716363C>T	ENST00000367429.4	+	22	3856	c.3616C>T	c.(3616-3618)Cgt>Tgt	p.R1206C		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1206	Sushi 20.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ACGGGGATATCGTCTTTCATC	0.378000													27	44					0	0	0.007291	0	0
BRINP1	1620	broad.mit.edu	37	9	121971125	121971125	+	Silent	SNP	C	C	T	rs12378280		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:121971125C>T	ENST00000265922.3	-	7	1478	c.1017G>A	c.(1015-1017)caG>caA	p.Q339Q	DBC1_ENST00000482797.1_5'UTR	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		339					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TGTAGCGGTTCTGCAGGTCCC	0.547000													19	43					0	0	0.008871	0	0
RNASE11	122651	broad.mit.edu	37	14	21052174	21052174	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:21052174C>T	ENST00000335950.4	-	3	922	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	RNASE11_ENST00000432835.2_Missense_Mutation_p.E154K|RNASE11_ENST00000398008.2_Missense_Mutation_p.E154K|RNASE11_ENST00000398009.2_Missense_Mutation_p.E154K|RNASE11_ENST00000553849.1_Missense_Mutation_p.E154K|RNASE11_ENST00000555841.1_Missense_Mutation_p.E154K	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	154						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		ACTGTATTTTCCAGTTCTAGG	0.502000													7	23					0	0	0.008291	0	0
ITGB8	3696	broad.mit.edu	37	7	20441433	20441433	+	Silent	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:20441433A>G	ENST00000222573.3	+	10	2055	c.1371A>G	c.(1369-1371)gaA>gaG	p.E457E	ITGB8_ENST00000537992.1_Silent_p.E322E	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	457					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GTTTTAATGAAACCGCTAAAA	0.343000													27	65					0	0	0.008361	0	0
TLL2	7093	broad.mit.edu	37	10	98145829	98145829	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:98145829C>T	ENST00000357947.3	-	15	2221	c.1996G>A	c.(1996-1998)Gaa>Aaa	p.E666K		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	666	CUB 3.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCTTCCAGTTCAAACACTTCA	0.547000													4	18					0	0	0.001168	0	0
TTBK2	146057	broad.mit.edu	37	15	43075673	43075673	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:43075673C>T	ENST00000267890.6	-	11	1249	c.1141G>A	c.(1141-1143)Gat>Aat	p.D381N	TTBK2_ENST00000567274.1_Missense_Mutation_p.D346N|TTBK2_ENST00000567840.1_Missense_Mutation_p.D381N	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	381					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TCCCAAACATCCTTCTCCTGG	0.428000													59	209					0	0	0.014410	0	0
POU6F2	11281	broad.mit.edu	37	7	39503872	39503872	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:39503872C>T	ENST00000559001.1	+	8	1599	c.1498C>T	c.(1498-1500)Ctt>Ttt	p.L500F	POU6F2_ENST00000403058.1_Missense_Mutation_p.L555F|POU6F2_ENST00000518318.2_Intron			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	555	POU-specific.		L -> M (in dbSNP:rs4992268).		central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GAACCCTGGCCTTTTGTATCC	0.547000													31	79					0	0	0.010818	0	0
SCN1A	6323	broad.mit.edu	37	2	166900244	166900244	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:166900244G>A	ENST00000423058.2	-	11	1995	c.1978C>T	c.(1978-1980)Cct>Tct	p.P660S	SCN1A_ENST00000375405.3_Missense_Mutation_p.P660S|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.P660S|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Intron	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	660						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGCGATGTAGGAACTGAAGGT	0.488000													10	48					0	0	0.008291	0	0
CTC1	80169	broad.mit.edu	37	17	8135484	8135484	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:8135484G>A	ENST00000315684.8	-	13	2129	c.2122C>T	c.(2122-2124)Cat>Tat	p.H708Y		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	708					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GTTGCTGAATGAAGGCAGGGT	0.557000													3	3					0	0	0.004672	0	0
CFAP54	144535	broad.mit.edu	37	12	97137206	97137206	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:97137206C>T	ENST00000524981.3	+	20	2599	c.2599C>T	c.(2599-2601)Ctc>Ttc	p.L867F				Q6ZTY8	CL063_HUMAN		841										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						TTGCCTGAGCCTCATCAATGA	0.408000													15	13					0	0	0.004007	0	0
CGB7	94027	broad.mit.edu	37	19	49557627	49557627	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:49557627G>A	ENST00000356213.4	-	5	3290	c.413C>T	c.(412-414)tCc>tTc	p.S138F	CGB7_ENST00000377280.3_Missense_Mutation_p.S140F|CGB7_ENST00000597853.1_Missense_Mutation_p.S140F|CGB7_ENST00000596965.1_Missense_Mutation_p.S140F					chorionic gonadotropin, beta polypeptide 7											lung(3)|urinary_tract(2)	5		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GGCCTTTGAGGAAGAGGAGGC	0.632000													19	80					0	0	0.003954	0	0
BAI3	577	broad.mit.edu	37	6	70048811	70048811	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:70048811G>A	ENST00000370598.1	+	25	4013	c.3192G>A	c.(3190-3192)caG>caA	p.Q1064Q	BAI3_ENST00000546190.1_Silent_p.Q28Q|BAI3_ENST00000238918.8_Silent_p.Q270Q	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1064					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTTGCAGTCAGATGAGTGAGC	0.408000													63	147					0	0	0.014410	0	0
ZNF507	22847	broad.mit.edu	37	19	32873629	32873629	+	Silent	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:32873629G>T	ENST00000311921.3	+	6	2694	c.2502G>T	c.(2500-2502)ctG>ctT	p.L834L	ZNF507_ENST00000355898.5_Silent_p.L834L|ZNF507_ENST00000544431.1_Silent_p.L838L	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	834					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TAAGAGTTCTGGGGAAATCCC	0.403000													22	53					3.08376e-08	3.3639e-08	0.003330	1	0
LGALS13	29124	broad.mit.edu	37	19	40097951	40097951	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:40097951C>T	ENST00000221797.4	+	4	437	c.392C>T	c.(391-393)tCc>tTc	p.S131F		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	131	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			AGAGATATCTCCCTGACCTCA	0.473000													17	42					0	0	0.006122	0	0
FGD6	55785	broad.mit.edu	37	12	95500772	95500772	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:95500772C>T	ENST00000343958.4	-	13	3598	c.3375G>A	c.(3373-3375)ggG>ggA	p.G1125G	FGD6_ENST00000546711.1_Silent_p.G1125G|FGD6_ENST00000549499.1_Silent_p.G1125G	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1125	PH 1.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GTTTATACATCCCAGACTGCA	0.368000													21	103					0	0	0.006320	0	0
MARK1	4139	broad.mit.edu	37	1	220808746	220808746	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:220808746G>A	ENST00000402574.1	+	12	1748	c.746G>A	c.(745-747)gGa>gAa	p.G249E	MARK1_ENST00000366917.4_Missense_Mutation_p.G384E|MARK1_ENST00000366918.4_Missense_Mutation_p.G362E	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	384	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TTATCCAGTGGAAACTTGTGT	0.418000													4	25					0	0	0.009096	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768521	77768521	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:77768521C>T	ENST00000521891.2	+	10	9812	c.9364C>T	c.(9364-9366)Cca>Tca	p.P3122S	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P3096S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P3077S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P3077S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3077	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P3106S(1)		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)			GCCGGGATTTCCACAAAATTC	0.512000										HNSCC(33;0.089)			6	21					0	0	0.003080	0	0
LRRC55	219527	broad.mit.edu	37	11	56949566	56949566	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:56949566C>T	ENST00000497933.1	+	1	346	c.199C>T	c.(199-201)Ctc>Ttc	p.L67F		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	37	LRRNT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GATCTCCCTCCTCTTGGCAGC	0.632000													10	22					0	0	0.010729	0	0
DSCAM	1826	broad.mit.edu	37	21	41725641	41725641	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:41725641C>T	ENST00000400454.1	-	5	1162	c.685G>A	c.(685-687)Gat>Aat	p.D229N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	229	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCAAACCCATCCAGTATGGAT	0.517000													5	4					0	0	0.001168	0	0
ERC2	26059	broad.mit.edu	37	3	56044597	56044597	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:56044597C>T	ENST00000288221.6	-	9	2055	c.1800G>A	c.(1798-1800)ttG>ttA	p.L600L		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	600						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCTGTTCTTTCAAGCGCTCAA	0.388000													40	96					0	0	0.008740	0	0
C15orf54	400360	broad.mit.edu	37	15	39544671	39544671	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:39544671T>A	ENST00000318578.3	+	2	703	c.335T>A	c.(334-336)aTt>aAt	p.I112N	RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.I112N	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	112										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		AACCCAGTGATTTCCAGCGGA	0.418000													14	46					0	0	0.001855	0	0
F2RL2	2151	broad.mit.edu	37	5	75914292	75914292	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:75914292C>T	ENST00000296641.4	-	2	443	c.240G>A	c.(238-240)gtG>gtA	p.V80V	IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000396234.3_Intron|F2RL2_ENST00000504899.1_Silent_p.V58V	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	80					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		TAGCATTTTTCACATGGAGAT	0.473000													26	96					0	0	0.007291	0	0
GPR179	440435	broad.mit.edu	37	17	36482961	36482961	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:36482961C>T	ENST00000342292.4	-	11	6511	c.6491G>A	c.(6490-6492)gGg>gAg	p.G2164E	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2164						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTCTTCCGTCCCTCCAGGTCC	0.592000													60	31					0	0	0.014410	0	0
EP400	57634	broad.mit.edu	37	12	132562175	132562175	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:132562175C>T	ENST00000333577.4	+	54	9546	c.9437C>T	c.(9436-9438)cCt>cTt	p.P3146L	EP400_ENST00000389561.2_Missense_Mutation_p.P3110L|EP400_ENST00000389562.2_Missense_Mutation_p.P3109L|EP400_ENST00000330386.6_Missense_Mutation_p.P3029L|EP400_ENST00000332482.4_Missense_Mutation_p.P3073L			Q96L91	EP400_HUMAN	E1A binding protein p400	3146					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ATGAGGGTCCCTGCTGTCAGG	0.612000													6	7					0	0	0.001168	0	0
RBM5	10181	broad.mit.edu	37	3	50155853	50155853	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:50155853G>A	ENST00000347869.3	+	25	2587	c.2412G>A	c.(2410-2412)cgG>cgA	p.R804R	RP11-493K19.3_ENST00000425674.1_RNA|RP11-493K19.3_ENST00000437204.1_RNA	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	804	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATGCTGTCCGGAAAGCCATGT	0.537000													14	17					0	0	0.004007	0	0
GRM8	2918	broad.mit.edu	37	7	126086142	126086142	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:126086142C>T	ENST00000358373.3	-	10	3278	c.2715G>A	c.(2713-2715)ggG>ggA	p.G905G	GRM8_ENST00000339582.2_Intron|GRM8_ENST00000444921.2_Intron	NM_001127323.1	NP_001120795.1	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	0					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGGAAGTGCTCCCGCTCTTGA	0.458000										HNSCC(24;0.065)			38	75					0	0	0.006230	0	0
SGK2	10110	broad.mit.edu	37	20	42196633	42196633	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:42196633G>A	ENST00000373100.1	+	6	682	c.222G>A	c.(220-222)aaG>aaA	p.K74K	SGK2_ENST00000426287.1_Silent_p.K100K|SGK2_ENST00000373077.1_Silent_p.K74K|SGK2_ENST00000423407.3_Silent_p.K74K|SGK2_ENST00000341458.4_Silent_p.K134K|SGK2_ENST00000373092.3_Silent_p.K74K			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	134					intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCTTAAAGAAGAAAGAGGTAC	0.498000													18	29					0	0	0.006122	0	0
TP63	8626	broad.mit.edu	37	3	189597954	189597954	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:189597954C>T	ENST00000418709.2	+	11	1479	c.1451C>T	c.(1450-1452)tCa>tTa	p.S484L	TP63_ENST00000437221.1_Missense_Mutation_p.S390L|TP63_ENST00000354600.5_Intron|TP63_ENST00000320472.5_Intron|TP63_ENST00000392463.2_Intron|TP63_ENST00000449992.1_Intron|TP63_ENST00000264731.3_Intron|TP63_ENST00000456148.1_Intron|TP63_ENST00000382063.4_Intron|TP63_ENST00000440651.2_Intron|TP63_ENST00000392460.3_Intron|TP63_ENST00000392461.3_Intron	NM_001114979.1	NP_001108451.1	Q9H3D4	P63_HUMAN	tumor protein p63	0					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCAAACCGATCAGTGTACCCA	0.453000										HNSCC(45;0.13)			17	43					0	0	0.006122	0	0
MUC16	94025	broad.mit.edu	37	19	9045877	9045877	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9045877C>T	ENST00000397910.4	-	5	35957	c.35754G>A	c.(35752-35754)tgG>tgA	p.W11918*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11920	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						TTTCTGTGTTCCAGGAGGTCA	0.493000													43	61					0	0	0.011902	0	0
NPHP4	261734	broad.mit.edu	37	1	5923958	5923958	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:5923958A>T	ENST00000378156.4	-	29	4397	c.4132T>A	c.(4132-4134)Tcc>Acc	p.S1378T	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1378					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTGGAAGGAGTCCTCTCTG	0.607000													12	41					0	0	0.010729	0	0
LPPR4	9890	broad.mit.edu	37	1	99767441	99767441	+	Silent	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:99767441T>C	ENST00000370185.3	+	6	1451	c.954T>C	c.(952-954)atT>atC	p.I318I	LPPR4_ENST00000370184.1_Silent_p.I160I|LPPR4_ENST00000457765.1_Intron	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		318							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GAGGAGGAATTGCACTGTACT	0.348000													21	44					0	0	0.004656	0	0
CACNA1A	773	broad.mit.edu	37	19	13409891	13409891	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:13409891C>T	ENST00000360228.5	-	19	2555	c.2556G>A	c.(2554-2556)caG>caA	p.Q852Q	CACNA1A_ENST00000573710.2_Silent_p.Q853Q	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	853					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCTCGGCGCGCTGCTGGCCGA	0.726000													8	13					0	0	0.003080	0	0
GRIA1	2890	broad.mit.edu	37	5	153190776	153190776	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:153190776G>A	ENST00000285900.5	+	16	3055	c.2712G>A	c.(2710-2712)acG>acA	p.T904T	GRIA1_ENST00000521843.2_Silent_p.T835T|GRIA1_ENST00000518142.1_Silent_p.T824T|GRIA1_ENST00000340592.5_Silent_p.T904T|GRIA1_ENST00000518783.1_Silent_p.T914T|GRIA1_ENST00000448073.4_Silent_p.T914T	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	904					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGGGAGCCACGGGATTGTAAC	0.557000													5	18					0	0	0.003080	0	0
EFCAB6	64800	broad.mit.edu	37	22	43996129	43996129	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:43996129C>T	ENST00000262726.7	-	23	2949	c.2696G>A	c.(2695-2697)gGa>gAa	p.G899E	EFCAB6_ENST00000396231.2_Missense_Mutation_p.G747E	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	899	EF-hand 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.G899V(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GTGCCCTTTTCCCTCGGTGTC	0.428000													17	94					0	0	0.004990	0	0
LILRA1	11024	broad.mit.edu	37	19	55106129	55106129	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55106129G>A	ENST00000453777.1	+	4	240		c.e4-1		LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_Splice_Site|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Splice_Site	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1						cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TTTCCTTCCAGGGACCCTCCC	0.582000													21	51					0	0	0.014323	0	0
OC90	729330	broad.mit.edu	37	8	133044178	133044178	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:133044178G>A	ENST00000262283.5	-	16	1716	c.1617C>T	c.(1615-1617)ggC>ggT	p.G539G	OC90_ENST00000603859.1_Silent_p.G327G|OC90_ENST00000443356.2_Silent_p.G343G|OC90_ENST00000254627.3_Silent_p.G327G			Q02509	OC90_HUMAN	otoconin 90	343					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CACAGTAACAGCCATAAGACT	0.542000													19	32					0	0	0.007413	0	0
SLC9A2	6549	broad.mit.edu	37	2	103317563	103317563	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:103317563C>T	ENST00000233969.2	+	8	1763	c.1621C>T	c.(1621-1623)Ctt>Ttt	p.L541F	SLC9A2_ENST00000469286.1_3'UTR	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	541						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TCTGCGGAAGCTTTTGATTCG	0.303000													12	41					0	0	0.003163	0	0
SGSM1	129049	broad.mit.edu	37	22	25270516	25270516	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:25270516C>T	ENST00000400359.4	+	13	1433	c.1426C>T	c.(1426-1428)Ccc>Tcc	p.P476S	SGSM1_ENST00000400358.4_Intron	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	476						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CACTACTCTCCCCACGCCAAG	0.637000													6	9					0	0	0.001168	0	0
GKN2	200504	broad.mit.edu	37	2	69173457	69173457	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:69173457C>A	ENST00000481498.1	-	5	469	c.451G>T	c.(451-453)Ggg>Tgg	p.G151W	GKN2_ENST00000328895.4_Missense_Mutation_p.G151W			Q86XP6	GKN2_HUMAN	gastrokine 2	151	BRICHOS.					extracellular region				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						ACCACTTCCCCCTTATACAAA	0.453000													35	77					2.32173e-10	2.53863e-10	0.004878	1	0
TIAM1	7074	broad.mit.edu	37	21	32638800	32638800	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:32638800C>T	ENST00000286827.3	-	5	960	c.489G>A	c.(487-489)gcG>gcA	p.A163A	TIAM1_ENST00000541036.1_Silent_p.A163A|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	163					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCTTAAAGCTCGCCGTCTCCA	0.512000													44	30					0	0	0.014410	0	0
CYP2D6	1565	broad.mit.edu	37	22	42525765	42525765	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:42525765G>A	ENST00000360608.5	-	2	441	c.327C>T	c.(325-327)atC>atT	p.I109I	NDUFA6-AS1_ENST00000416037.1_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000359033.4_Silent_p.I109I|CYP2D6_ENST00000389970.3_Silent_p.I109I	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	109							electron carrier activity|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			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CGAAACCCAGGATCTGGGTGA	0.697000													14	21					0	0	0.002450	0	0
CCDC14	64770	broad.mit.edu	37	3	123633917	123633917	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:123633917G>A	ENST00000485727.1	-	9	6563	c.1971C>T	c.(1969-1971)ctC>ctT	p.L657L	CCDC14_ENST00000433542.2_Silent_p.L816L|CCDC14_ENST00000483247.1_5'UTR|CCDC14_ENST00000310351.4_Silent_p.L697L|CCDC14_ENST00000488653.2_Silent_p.L857L|CCDC14_ENST00000489746.1_Silent_p.L657L			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	857						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TTATTTTCTTGAGGAGCTGTG	0.458000													9	30					0	0	0.008291	0	0
OR52L1	338751	broad.mit.edu	37	11	6007653	6007653	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:6007653C>T	ENST00000332249.4	-	1	562	c.508G>A	c.(508-510)Gga>Aga	p.G170R		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTAGTAATCCCCTCACCAGC	0.498000													6	49					0	0	0.001984	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891879	2891879	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:2891879C>T	ENST00000254528.3	+	4	1913	c.1754C>T	c.(1753-1755)tCt>tTt	p.S585F		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	585					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CTTTTGAAATCTCTCAACGAC	0.458000													7	28					0	0	0.003080	0	0
ADCY8	114	broad.mit.edu	37	8	131792927	131792927	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:131792927C>T	ENST00000286355.5	-	18	5557	c.3465G>A	c.(3463-3465)gtG>gtA	p.V1155V	ADCY8_ENST00000377928.3_Silent_p.V1024V	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1155					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGATACCCTTCACATAGATCT	0.517000										HNSCC(32;0.087)			31	59					0	0	0.009535	0	0
DNAH1	25981	broad.mit.edu	37	3	52383297	52383297	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:52383297C>T	ENST00000420323.2	+	14	2648	c.2387C>T	c.(2386-2388)tCg>tTg	p.S796L		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	796	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGGACAGCTCGCTGCCCAGC	0.597000													12	20					0	0	0.013537	0	0
DNAH5	1767	broad.mit.edu	37	5	13762882	13762882	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:13762882C>T	ENST00000265104.4	-	60	10334	c.10230G>A	c.(10228-10230)acG>acA	p.T3410T	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3410	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCATAGCTTTCGTCCAGGAAC	0.453000									Kartagener syndrome				14	27					0	0	0.003163	0	0
RNF128	79589	broad.mit.edu	37	X	106016214	106016214	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:106016214G>A	ENST00000255499.2	+	2	806	c.556G>A	c.(556-558)Ggc>Agc	p.G186S	RNF128_ENST00000324342.3_Missense_Mutation_p.G160S	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	186						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TATTCAAAGAGGCATACAAGT	0.343000													32	10					0	0	0.009535	0	0
NFIA	4774	broad.mit.edu	37	1	61824904	61824904	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:61824904G>A	ENST00000403491.3	+	6	1388	c.904G>A	c.(904-906)Gga>Aga	p.G302R	NFIA_ENST00000485903.2_Missense_Mutation_p.G302R|NFIA_ENST00000371191.1_Missense_Mutation_p.G325R|NFIA_ENST00000371189.4_Missense_Mutation_p.G347R|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000371187.3_Missense_Mutation_p.G302R|NFIA_ENST00000371185.2_Missense_Mutation_p.G280R|NFIA_ENST00000407417.3_Missense_Mutation_p.G294R|NFIA_ENST00000371184.2_Intron	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	302					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						GCGCTCCCCAGGAAGTGGCAG	0.522000													21	73					0	0	0.014323	0	0
SCN10A	6336	broad.mit.edu	37	3	38760147	38760147	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:38760147C>T	ENST00000449082.2	-	20	3677	c.3678G>A	c.(3676-3678)gtG>gtA	p.V1226V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1226					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)	CACTCACATTCACAATGAGGA	0.532000													15	30					0	0	0.004990	0	0
STAB1	23166	broad.mit.edu	37	3	52553332	52553332	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:52553332C>T	ENST00000321725.6	+	49	5163	c.5087C>T	c.(5086-5088)gCc>gTc	p.A1696V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1696	FAS1 5.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GACCATGAGGCCGTGAACGGC	0.637000													51	107					0	0	0.014410	0	0
PON1	5444	broad.mit.edu	37	7	95025659	95025659	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:95025659C>T	ENST00000542556.1	-	1	14	c.4G>A	c.(4-6)Ggg>Agg	p.G2R	PON3_ENST00000265627.5_Missense_Mutation_p.G2R|PON3_ENST00000427422.1_Missense_Mutation_p.G2R			P27169	PON1_HUMAN	paraoxonase 1	2					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)	ACGAGCTTCCCCATGGTCTCG	0.701000													21	36					0	0	0.003330	0	0
NBPF22P	285622	broad.mit.edu	37	5	85578703	85578703	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:85578703G>A	ENST00000590707.1	+	0	426					NR_003719.2																						ACCTCAAAGAGAAATTCCTTA	0.453000													11	17					0	0	0.008291	0	0
IARS	3376	broad.mit.edu	37	9	95050137	95050137	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:95050137A>C	ENST00000375643.3	-	4	598	c.332T>G	c.(331-333)aTg>aGg	p.M111R	IARS_ENST00000447699.2_Start_Codon_SNP_p.M1R|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.M111R	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	111					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TGTAATCCCCATTTTGGCCAC	0.403000													14	22					0	0	0.004007	0	0
KCNU1	157855	broad.mit.edu	37	8	36641933	36641933	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:36641933T>A	ENST00000399881.3	+	1	42	c.5T>A	c.(4-6)tTt>tAt	p.F2Y		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	2						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCGAACATGTTTCAGACTAAG	0.458000													6	14					0	0	0.001984	0	0
HYDIN	54768	broad.mit.edu	37	16	70977742	70977742	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:70977742G>A	ENST00000393567.2	-	42	6792	c.6642C>T	c.(6640-6642)ctC>ctT	p.L2214L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2214										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGATCTGCACGAGAAGTTCAT	0.642000													6	22					0	0	0.001168	0	0
SCN2A	6326	broad.mit.edu	37	2	166210825	166210825	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:166210825G>A	ENST00000375437.2	+	17	3333	c.3043G>A	c.(3043-3045)Gat>Aat	p.D1015N	SCN2A_ENST00000283256.6_Missense_Mutation_p.D1015N|SCN2A_ENST00000375427.2_Missense_Mutation_p.D1015N|SCN2A_ENST00000357398.3_Missense_Mutation_p.D1015N	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1015					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GAAAGGAATCGATTTTGTTAA	0.348000													36	51					0	0	0.003755	0	0
ALG9	79796	broad.mit.edu	37	11	111749799	111749799	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:111749799G>A	ENST00000524880.1	-	1	350	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L	FDXACB1_ENST00000542429.1_5'UTR|C11orf1_ENST00000528125.1_Intron|FDXACB1_ENST00000260257.4_Silent_p.L20L			Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	320					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		GTTTCGCTCAGAGCGGCGGCG	0.657000											OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	29					0	0	0.003163	0	0
MYH6	4624	broad.mit.edu	37	14	23855677	23855677	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:23855677G>A	ENST00000405093.3	-	33	4876	c.4806C>T	c.(4804-4806)tcC>tcT	p.S1602S	MYH6_ENST00000356287.3_Silent_p.S1602S	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1602					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTGCATCCAGGGAGGTCTGCA	0.592000													21	119					0	0	0.012319	0	0
ZNF99	7652	broad.mit.edu	37	19	22940532	22940532	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:22940532G>A	ENST00000397104.3	-	5	1905	c.1906C>T	c.(1906-1908)Cat>Tat	p.H636Y	ZNF99_ENST00000596209.1_Missense_Mutation_p.H727Y					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTCCAGTATGAATTATCTCA	0.358000													6	15					0	0	0.003080	0	0
SPAG16	79582	broad.mit.edu	37	2	214354720	214354720	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:214354720C>T	ENST00000331683.5	+	10	1071	c.976C>T	c.(976-978)Cca>Tca	p.P326S	SPAG16_ENST00000374309.3_Missense_Mutation_p.P232S	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	326					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GCAACCAAATCCAAACCTGAA	0.353000													17	48					0	0	0.008871	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65714719	65714719	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:65714719C>T	ENST00000532620.1	+	0	654							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						CCTCCTCGTTCTCCCAGCGTC	0.652000													3	7					0	0	0.004672	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576745	158576745	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158576745G>A	ENST00000361284.1	+	1	517	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CAGCTCCCATGAAATCCAGCA	0.498000													15	93					0	0	0.003163	0	0
TRPV1	7442	broad.mit.edu	37	17	3494609	3494609	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:3494609T>C	ENST00000174621.6	-	3	536	c.247A>G	c.(247-249)Aga>Gga	p.R83G	TRPV1_ENST00000425167.2_Missense_Mutation_p.K108R|TRPV1_ENST00000399759.3_Missense_Mutation_p.K108R|TRPV1_ENST00000399756.4_Missense_Mutation_p.K108R|TRPV1_ENST00000576351.1_Missense_Mutation_p.K108R|TRPV1_ENST00000571088.1_Missense_Mutation_p.K108R|TRPV1_ENST00000310522.5_Missense_Mutation_p.K108R|SHPK_ENST00000572705.1_Missense_Mutation_p.K108R			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	782					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CCTGAGGGTCTTCTCGGTGCT	0.597000													13	30					0	0	0.003163	0	0
VWA8	23078	broad.mit.edu	37	13	42407593	42407593	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:42407593G>A	ENST00000379310.3	-	13	1568	c.1500C>T	c.(1498-1500)ccC>ccT	p.P500P	VWA8_ENST00000281496.6_Silent_p.P500P	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		CATTCACAAGGGGTGAGGACC	0.542000													5	25					0	0	0.000602	0	0
MAPK10	5602	broad.mit.edu	37	4	87019692	87019692	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:87019692A>G	ENST00000395169.3	-	9	1393	c.673T>C	c.(673-675)Ttt>Ctt	p.F225L	MAPK10_ENST00000359221.3_Missense_Mutation_p.F263L|MAPK10_ENST00000395157.3_Missense_Mutation_p.F118L|MAPK10_ENST00000449047.2_Intron|MAPK10_ENST00000395166.1_Missense_Mutation_p.F225L|MAPK10_ENST00000395160.3_Missense_Mutation_p.F118L|MAPK10_ENST00000361569.2_Missense_Mutation_p.F263L|MAPK10_ENST00000395161.2_Missense_Mutation_p.F263L	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	263	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CTTCCTGGAAAGAGGATTTTG	0.418000													34	27					0	0	0.007835	0	0
OR52A1	23538	broad.mit.edu	37	11	5172912	5172912	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5172912G>A	ENST00000380367.1	-	2	1105	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C	OR52A1_ENST00000328942.1_Missense_Mutation_p.R230C			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	230					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGCAAACGAAAAACTGTG	0.423000													9	40					0	0	0.004482	0	0
BSCL2	26580	broad.mit.edu	37	11	62458112	62458112	+	Silent	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:62458112T>C	ENST00000433053.1	-	11	1762	c.1206A>G	c.(1204-1206)gaA>gaG	p.E402E	BSCL2_ENST00000403550.1_Silent_p.E338E|BSCL2_ENST00000421906.1_Silent_p.E338E|BSCL2_ENST00000405837.1_Silent_p.E404E|BSCL2_ENST00000360796.5_Silent_p.E402E|BSCL2_ENST00000278893.7_3'UTR|BSCL2_ENST00000407022.3_Silent_p.E338E|RP11-831H9.16_ENST00000403734.2_3'UTR			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	338					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						CTAGCTCCTCTTCTCCGCTCA	0.572000													22	115					0	0	0.003330	0	0
HTR1A	3350	broad.mit.edu	37	5	63257112	63257112	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:63257112C>T	ENST00000323865.3	-	1	668	c.435G>A	c.(433-435)gtG>gtA	p.V145V	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	145					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TCCTCTTGTTCACGTAGTCGA	0.642000													8	31					0	0	0.004482	0	0
MMP20	9313	broad.mit.edu	37	11	102465401	102465401	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:102465401C>T	ENST00000260228.2	-	7	1053	c.1041G>A	c.(1039-1041)gtG>gtA	p.V347V		NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	347	Hemopexin-like 2.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		AAGCTGCATCCACATTGGACA	0.527000													4	32					0	0	0.009096	0	0
BCAT1	586	broad.mit.edu	37	12	25002804	25002804	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:25002804C>T	ENST00000261192.7	-	6	1116	c.590G>A	c.(589-591)gGa>gAa	p.G197E	BCAT1_ENST00000539282.1_Missense_Mutation_p.G209E|BCAT1_ENST00000342945.5_Missense_Mutation_p.G136E|BCAT1_ENST00000538118.1_Missense_Mutation_p.G196E|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539780.1_Missense_Mutation_p.G160E	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	197					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	ATTAAAGGTTCCACTTGAAAA	0.478000													53	37					0	0	0.014410	0	0
NKRF	55922	broad.mit.edu	37	X	118725046	118725046	+	Silent	SNP	A	A	G	rs148494768		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:118725046A>G	ENST00000371527.1	-	2	994	c.342T>C	c.(340-342)taT>taC	p.Y114Y	NKRF_ENST00000304449.5_Silent_p.Y114Y|NKRF_ENST00000487600.1_5'UTR|NKRF_ENST00000542113.1_Silent_p.Y129Y	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	114	Active repression domain.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						ATGAATCACAATACTGAGAAT	0.423000													37	19					0	0	0.006230	0	0
BCORL1	63035	broad.mit.edu	37	X	129189886	129189886	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:129189886G>A	ENST00000540052.1	+	12	4955	c.4911G>A	c.(4909-4911)agG>agA	p.R1637R	BCORL1_ENST00000218147.7_Silent_p.R1637R|BCORL1_ENST00000359304.2_Silent_p.R1507R|BCORL1_ENST00000303743.5_Silent_p.R1711R	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1637					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TTTCCTCGAGGATCTTTCAGG	0.562000													69	37					0	0	0.014410	0	0
PRKD1	5587	broad.mit.edu	37	14	30102112	30102112	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:30102112G>A	ENST00000331968.5	-	9	1584	c.1355C>T	c.(1354-1356)aCc>aTc	p.T452I	PRKD1_ENST00000415220.2_Missense_Mutation_p.T460I	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	452	PH.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CTGAAAGAGGGTAATACATTT	0.368000													25	88					0	0	0.006320	0	0
CCDC60	160777	broad.mit.edu	37	12	119943007	119943007	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:119943007C>T	ENST00000327554.2	+	7	1247	c.782C>T	c.(781-783)tCg>tTg	p.S261L	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	261										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AACCCTGGCTCGGATGAGCCC	0.567000													44	86					0	0	0.014410	0	0
SNHG14	104472715	broad.mit.edu	37	15	25434615	25434615	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:25434615C>T	ENST00000424208.1	+	0	937				SNHG14_ENST00000414175.1_RNA|SNORD115-11_ENST00000363616.1_RNA	NR_003305.1																						ACTTAAAAATCATGCTCAATA	0.512000													58	158					0	0	0.014410	0	0
ZNF536	9745	broad.mit.edu	37	19	30936569	30936569	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:30936569C>T	ENST00000355537.3	+	2	2247	c.2100C>T	c.(2098-2100)gtC>gtT	p.V700V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	700					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGAGCGGGGTCGGAGGCGGCC	0.692000													10	22					0	0	0.006214	0	0
CASP14	23581	broad.mit.edu	37	19	15166036	15166036	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15166036A>C	ENST00000427043.3	+	5	779	c.471A>C	c.(469-471)caA>caC	p.Q157H	CASP14_ENST00000221740.1_Missense_Mutation_p.Q157H	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	157					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						ACAGCCCACAAACCATCCCAA	0.522000													15	50					0	0	0.002450	0	0
AVPR1A	552	broad.mit.edu	37	12	63541221	63541221	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:63541221C>T	ENST00000299178.2	-	2	1280	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	392					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TGTTGGGCTTCGATTGTTAGA	0.403000													57	32					0	0	0.014410	0	0
NLRP4	147945	broad.mit.edu	37	19	56368969	56368969	+	Translation_Start_Site	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:56368969A>T	ENST00000587891.1	+	0	159				NLRP4_ENST00000301295.6_Intron|NLRP4_ENST00000346986.5_Intron			Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4								ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ACATCCTGAGAAGAAAAAAAG	0.443000													5	14					0	0	0.000602	0	0
TSEN15	116461	broad.mit.edu	37	1	184041970	184041970	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:184041970C>T	ENST00000361641.1	+	5	584	c.505C>T	c.(505-507)Ctt>Ttt	p.L169F	TSEN15_ENST00000423085.2_Silent_p.L121L|TSEN15_ENST00000533373.1_Missense_Mutation_p.S134F	NM_052965.2	NP_443197.1	Q8WW01	SEN15_HUMAN	TSEN15 tRNA splicing endonuclease subunit	169					mRNA processing|tRNA processing	nucleolus	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(2)	8						GAATATTTCTCTTAGAAGATG	0.313000													8	39					0	0	0.010729	0	0
KMT2C	58508	broad.mit.edu	37	7	151927079	151927079	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:151927079C>T	ENST00000355193.2	-	18	3123	c.2905G>A	c.(2905-2907)Gga>Aga	p.G969R	KMT2C_ENST00000262189.6_Missense_Mutation_p.G969R					lysine (K)-specific methyltransferase 2C																		CCTTCTGCTCCTTGGCCAAAA	0.348000													9	271					0	0	0.014323	0	0
GABRD	2563	broad.mit.edu	37	1	1956779	1956779	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:1956779C>T	ENST00000378585.4	+	3	271	c.188C>T	c.(187-189)cCc>cTc	p.P63L		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	63						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GCAGGCCCCCCCGTGAATGTG	0.652000													24	91					0	0	0.007291	0	0
MAP3K5	4217	broad.mit.edu	37	6	136980443	136980443	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:136980443A>T	ENST00000359015.4	-	9	1800	c.1440T>A	c.(1438-1440)ttT>ttA	p.F480L		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	480					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CCCCCAGAAAAAATCCAACTT	0.413000													27	48					0	0	0.006320	0	0
CUL5	8065	broad.mit.edu	37	11	107925391	107925391	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:107925391C>T	ENST00000393094.2	+	6	1187	c.571C>T	c.(571-573)Cct>Tct	p.P191S		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	191					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TTGTTCTAATCCTGAGGATAA	0.289000													6	18					0	0	0.001168	0	0
CAMK4	814	broad.mit.edu	37	5	110820078	110820078	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:110820078G>A	ENST00000282356.4	+	11	1734	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K	CAMK4_ENST00000512453.1_Missense_Mutation_p.E446K|CAMK4_ENST00000512890.1_3'UTR	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	446					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GACTGTGGAGGAGGCAGCAGC	0.552000													5	23					0	0	0.000602	0	0
BMP10	27302	broad.mit.edu	37	2	69093240	69093240	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:69093240C>T	ENST00000295379.1	-	2	956	c.798G>A	c.(796-798)agG>agA	p.R266R		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	266					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						GTTCCTCCTTCCTCTCCTTGT	0.483000													22	31					0	0	0.010504	0	0
CBLN2	147381	broad.mit.edu	37	18	70205891	70205891	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:70205891G>A	ENST00000269503.4	-	4	1247	c.474C>T	c.(472-474)atC>atT	p.I158I	CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000585159.1_Silent_p.I158I|CBLN2_ENST00000584764.1_Silent_p.I42I|CBLN2_ENST00000581073.1_Silent_p.I44I	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	158	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				TACCCACCTGGATGGTTTGTC	0.458000													18	66					0	0	0.010504	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195409	18195409	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:18195409C>T	ENST00000314254.3	+	1	1026	c.606C>T	c.(604-606)atC>atT	p.I202I	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	202						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGGTCAGGATCCTCTGTGGAT	0.547000													24	39					0	0	0.002780	0	0
KCNB1	3745	broad.mit.edu	37	20	47990547	47990547	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:47990547G>A	ENST00000371741.4	-	2	1716	c.1550C>T	c.(1549-1551)tCg>tTg	p.S517L		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	517	Poly-Ser.				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACTAGAAGACGATCTGGCTTT	0.463000													60	142					0	0	0.014410	0	0
SCN11A	11280	broad.mit.edu	37	3	38991643	38991643	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:38991643G>A	ENST00000450244.1	-	1	409	c.211C>T	c.(211-213)Cgt>Tgt	p.R71C	SCN11A_ENST00000302328.3_Missense_Mutation_p.R71C|SCN11A_ENST00000444237.2_Missense_Mutation_p.R71C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R71C			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	71					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGAGCTCACGAGGAATGTCG	0.552000													29	119					0	0	0.010818	0	0
ADRA2B	151	broad.mit.edu	37	2	96781380	96781380	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:96781380G>A	ENST00000409345.3	-	1	604	c.509C>T	c.(508-510)gCc>gTc	p.A170V		NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	170					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GATGTACCAGGCCTCCTGGTT	0.627000													10	29					0	0	0.010729	0	0
ATP10B	23120	broad.mit.edu	37	5	160061514	160061514	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:160061514C>T	ENST00000327245.5	-	12	2074	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	410					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			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGGATAAATCGGTCTCTTCA	0.493000													28	74					0	0	0.013726	0	0
LENG8	114823	broad.mit.edu	37	19	54967259	54967259	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:54967259C>T	ENST00000326764.5	+	9	1618	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	343	Ser-rich.						protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GGTGCCCCGTCCCAGCGAGGG	0.672000													18	34					0	0	0.004990	0	0
ESPNL	339768	broad.mit.edu	37	2	239038790	239038790	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:239038790C>T	ENST00000343063.3	+	9	1698	c.1435C>T	c.(1435-1437)Ccc>Tcc	p.P479S	ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Missense_Mutation_p.P435S|ESPNL_ENST00000409506.1_Missense_Mutation_p.P111S	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	479										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GAGCTCAGGCCCCACGGAGCA	0.632000													4	14					0	0	0.000602	0	0
IGSF1	3547	broad.mit.edu	37	X	130415673	130415673	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:130415673G>A	ENST00000370904.1	-	14	2375	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C	IGSF1_ENST00000361420.3_Missense_Mutation_p.R498C|IGSF1_ENST00000370903.3_Missense_Mutation_p.R498C|IGSF1_ENST00000370910.1_Missense_Mutation_p.R489C			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	498	Ig-like C2-type 5.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGCTCACTGCGATGTGACCAG	0.527000													19	13					0	0	0.007413	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3428392	3428392	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:3428392C>T	ENST00000324266.5	+	5	1570	c.1375C>T	c.(1375-1377)Ctt>Ttt	p.L459F	TRAPPC12_ENST00000469147.1_3'UTR|TRAPPC12_ENST00000382110.2_Missense_Mutation_p.L459F	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	459							binding	p.L459I(1)									TCAGCCAGATCTTTATTACGA	0.463000													34	137					0	0	0.004878	0	0
PTPN3	5774	broad.mit.edu	37	9	112168865	112168865	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:112168865C>T	ENST00000412145.1	-	13	3829	c.1276G>A	c.(1276-1278)Gat>Aat	p.D426N	PTPN3_ENST00000374541.2_Missense_Mutation_p.D557N|PTPN3_ENST00000394827.3_Missense_Mutation_p.D25N|PTPN3_ENST00000262539.3_Missense_Mutation_p.D403N|PTPN3_ENST00000446349.1_Missense_Mutation_p.D381N	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	557					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						ACGATTTGATCCCCTTCGTTC	0.537000													29	81					0	0	0.013726	0	0
OR4B1	119765	broad.mit.edu	37	11	48239224	48239224	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:48239224G>A	ENST00000309562.2	+	1	881	c.863G>A	c.(862-864)aGg>aAg	p.R288K		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TACACACTCAGGAATGCAGAG	0.438000													14	33					0	0	0.002450	0	0
OR51T1	401665	broad.mit.edu	37	11	4903640	4903640	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:4903640C>T	ENST00000380378.1	+	1	592	c.592C>T	c.(592-594)Cat>Tat	p.H198Y	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.H171Y	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTGTCTTTTCATGGGGGTCA	0.463000													28	113					0	0	0.004656	0	0
USP26	83844	broad.mit.edu	37	X	132159894	132159894	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:132159894C>T	ENST00000511190.1	-	6	2824	c.2355G>A	c.(2353-2355)agG>agA	p.R785R	USP26_ENST00000406273.1_Silent_p.R785R|USP26_ENST00000370832.1_Silent_p.R785R	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	785					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GTAGGGAATTCCTGTTAGACT	0.398000													41	35					0	0	0.011902	0	0
CLCA2	9635	broad.mit.edu	37	1	86898095	86898095	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:86898095C>T	ENST00000370565.4	+	5	790	c.628C>T	c.(628-630)Cct>Tct	p.P210S		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	210					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TGAAAAAGGTCCTTGCCCCCA	0.348000													33	78					0	0	0.013726	0	0
MET	4233	broad.mit.edu	37	7	116411553	116411553	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:116411553G>A	ENST00000397752.3	+	13	2932	c.2730_splice	c.e13-1	p.W911_splice	MET_ENST00000318493.6_Splice_Site_p.W929_splice	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	911					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CATTTTTAGTGGAAGCAAGCA	0.368000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				10	62					0	0	0.006214	0	0
YTHDC2	64848	broad.mit.edu	37	5	112868723	112868723	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:112868723C>T	ENST00000161863.4	+	5	1036	c.823C>T	c.(823-825)Cag>Tag	p.Q275*	YTHDC2_ENST00000515883.1_Nonsense_Mutation_p.Q275*	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	275	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AATTGGTTATCAGATCCGATT	0.383000													13	16					0	0	0.001855	0	0
EPHA4	2043	broad.mit.edu	37	2	222301175	222301175	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:222301175C>T	ENST00000281821.2	-	13	2331	c.2290G>A	c.(2290-2292)Gat>Aat	p.D764N	EPHA4_ENST00000409938.1_Missense_Mutation_p.D764N|EPHA4_ENST00000409854.1_Missense_Mutation_p.D764N|EPHA4_ENST00000392071.4_Missense_Mutation_p.D713N	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	764	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ATGCCAAAATCAGACACTTTG	0.493000													11	34					0	0	0.010729	0	0
GPR132	29933	broad.mit.edu	37	14	105518133	105518133	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:105518133G>A	ENST00000329797.3	-	4	1252	c.341C>T	c.(340-342)gCc>gTc	p.A114V	GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000392585.2_Missense_Mutation_p.A105V|GPR132_ENST00000539291.2_Missense_Mutation_p.A114V	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	114					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		CACCTTGCAGGCCAGCAGGCC	0.607000													45	94					0	0	0.014410	0	0
OPN4	94233	broad.mit.edu	37	10	88418308	88418308	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:88418308C>T	ENST00000372071.2	+	5	752	c.525C>T	c.(523-525)atC>atT	p.I175I	OPN4_ENST00000241891.5_Silent_p.I164I	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	164					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						TGACGGCCATCGCCCTGGACC	0.612000													10	28					0	0	0.008291	0	0
PAX2	5076	broad.mit.edu	37	10	102566342	102566342	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:102566342G>A	ENST00000370296.2	+	7	1391	c.841G>A	c.(841-843)Gag>Aag	p.E281K	PAX2_ENST00000361791.3_Missense_Mutation_p.E258K|PAX2_ENST00000556085.1_Missense_Mutation_p.E257K|PAX2_ENST00000355243.3_Missense_Mutation_p.E258K|PAX2_ENST00000428433.1_Missense_Mutation_p.E281K|PAX2_ENST00000553492.1_3'UTR			Q02962	PAX2_HUMAN	paired box 2	281					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CCAGGCATCAGAGCACATCAA	0.532000													26	108					0	0	0.006320	0	0
SDE2	163859	broad.mit.edu	37	1	226183025	226183025	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:226183025G>A	ENST00000366817.1	-	2	189	c.26C>T	c.(25-27)aCa>aTa	p.T9I	SDE2_ENST00000272091.7_Silent_p.D60D					SDE2 telomere maintenance homolog (S. pombe)																		GCTGCACTGTGTCACTGGTGT	0.388000													9	53					0	0	0.006214	0	0
CHGB	1114	broad.mit.edu	37	20	5903950	5903950	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:5903950G>A	ENST00000378961.4	+	4	1364	c.1160G>A	c.(1159-1161)aGa>aAa	p.R387K		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	387						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGGACAAGAGAAACTACCCC	0.537000													21	55					0	0	0.014323	0	0
TMEM59L	25789	broad.mit.edu	37	19	18724759	18724759	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:18724759C>T	ENST00000600490.1	+	3	434	c.249C>T	c.(247-249)ctC>ctT	p.L83L	TMEM59L_ENST00000262817.3_Silent_p.L83L			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	83						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GCTGCCGCCTCTTCTCCATCT	0.672000													26	48					0	0	0.005443	0	0
DNAH7	56171	broad.mit.edu	37	2	196659083	196659083	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:196659083G>A	ENST00000312428.6	-	57	10795	c.10695C>T	c.(10693-10695)ttC>ttT	p.F3565F	DNAH7_ENST00000409063.1_Silent_p.F48F	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3565	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGCTGCCAAAGAACTCCGGAT	0.463000													40	46					0	0	0.014410	0	0
OR2T2	401992	broad.mit.edu	37	1	248616205	248616205	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248616205T>C	ENST00000342927.3	+	1	129	c.107T>C	c.(106-108)tTt>tCt	p.F36S		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCTCCATCTTTGTGGTGGCT	0.527000													38	167					0	0	0.010771	0	0
SLIT3	6586	broad.mit.edu	37	5	168189647	168189647	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:168189647G>A	ENST00000519560.1	-	15	1926	c.1507C>T	c.(1507-1509)Ctc>Ttc	p.L503F	SLIT3_ENST00000404867.3_Missense_Mutation_p.L503F|SLIT3_ENST00000332966.8_Missense_Mutation_p.L503F	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	503	LRRNT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGCACACGAGGTCCATGAAG	0.617000													17	85					0	0	0.007413	0	0
SLC9A2	6549	broad.mit.edu	37	2	103317564	103317564	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:103317564T>C	ENST00000233969.2	+	8	1764	c.1622T>C	c.(1621-1623)cTt>cCt	p.L541P	SLC9A2_ENST00000469286.1_3'UTR	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	541						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CTGCGGAAGCTTTTGATTCGG	0.299000													12	41					0	0	0.003163	0	0
SEMA6D	80031	broad.mit.edu	37	15	48063557	48063557	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:48063557C>T	ENST00000316364.5	+	19	3236	c.2797C>T	c.(2797-2799)Cct>Tct	p.P933S	SEMA6D_ENST00000537942.1_Missense_Mutation_p.P871S|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P858S|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P877S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P871S|SEMA6D_ENST00000536845.2_Missense_Mutation_p.P933S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P914S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P871S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P890S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	933					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ATACTCCCCTCCTTCAACTCT	0.522000													11	82					0	0	0.010729	0	0
GNG3	2785	broad.mit.edu	37	11	62476263	62476263	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:62476263C>T	ENST00000294117.5	+	3	472	c.213C>T	c.(211-213)ttC>ttT	p.F71F	BSCL2_ENST00000405837.1_Intron|RP11-831H9.16_ENST00000403734.2_Intron|BSCL2_ENST00000433053.1_Intron	NM_012202.4	NP_036334.1	P63215	GBG3_HUMAN	guanine nucleotide binding protein (G protein), gamma 3	71					activation of MAPK activity|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission		GTPase activity|signal transducer activity			kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	5						AGAAGTTCTTCTGTGCTCTCC	0.567000													27	50					0	0	0.006320	0	0
LYN	4067	broad.mit.edu	37	8	56912099	56912099	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:56912099C>T	ENST00000520220.2	+	12	1538	c.1264C>T	c.(1264-1266)Ccc>Tcc	p.P422S	LYN_ENST00000519728.1_Missense_Mutation_p.P443S	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	443	Protein kinase.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			TGGGAAAATTCCCTACCCAGG	0.373000													9	49					0	0	0.013537	0	0
SLC9C2	284525	broad.mit.edu	37	1	173567081	173567081	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:173567081C>T	ENST00000367714.3	-	4	741	c.319G>A	c.(319-321)Gat>Aat	p.D107N	SLC9C2_ENST00000536496.1_Missense_Mutation_p.D5N|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	107					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AATTCTACATCCAAAGCAACC	0.308000													21	64					0	0	0.012319	0	0
CYP2S1	29785	broad.mit.edu	37	19	41704514	41704514	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:41704514C>T	ENST00000310054.4	+	4	857	c.641C>T	c.(640-642)tCc>tTc	p.S214F	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	214					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GGAGTCAGCTCCCAGGGGGGT	0.612000													33	63					0	0	0.004878	0	0
DHX30	22907	broad.mit.edu	37	3	47887831	47887831	+	Silent	SNP	G	G	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:47887831G>C	ENST00000446256.2	+	12	1724	c.1152G>C	c.(1150-1152)cgG>cgC	p.R384R	DHX30_ENST00000348968.4_Silent_p.R395R|DHX30_ENST00000445061.1_Silent_p.R423R|DHX30_ENST00000457607.1_Silent_p.R451R	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	423						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGTGGCGGCGGCGAGGGCCGG	0.632000													38	49					0	0	0.004878	0	0
MUC16	94025	broad.mit.edu	37	19	9072320	9072320	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9072320G>A	ENST00000397910.4	-	3	15329	c.15126C>T	c.(15124-15126)tcC>tcT	p.S5042S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5044	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						AGGACAGAAAGGAAGAGGGGG	0.478000													11	30					0	0	0.010729	0	0
FRAS1	80144	broad.mit.edu	37	4	79443817	79443817	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:79443817G>A	ENST00000264895.6	+	69	11103	c.10663G>A	c.(10663-10665)Gag>Aag	p.E3555K		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3550					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTTTGTGATGGAGCATCACAC	0.438000													4	6					0	0	0.000602	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202469367	202469367	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:202469367C>T	ENST00000439140.1	-	2	329	c.285G>A	c.(283-285)caG>caA	p.Q95Q	ALS2CR11_ENST00000286195.3_Silent_p.Q95Q|ALS2CR11_ENST00000439802.1_Silent_p.Q95Q|ALS2CR11_ENST00000450242.1_Silent_p.Q95Q	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	95										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TTGGCGTCTCCTGTGTTATTT	0.328000													33	63					0	0	0.007835	0	0
FAT3	120114	broad.mit.edu	37	11	92616345	92616345	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:92616345C>T	ENST00000298047.6	+	23	12740	c.12723C>T	c.(12721-12723)ttC>ttT	p.F4241F	FAT3_ENST00000533797.1_Silent_p.F576F|FAT3_ENST00000409404.2_Silent_p.F4241F|FAT3_ENST00000525166.1_Silent_p.F4091F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4241					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)				CACCCTGCTTCCAGAGTGACT	0.662000										TCGA Ovarian(4;0.039)			6	197					0	0	0.001168	0	0
LRP2	4036	broad.mit.edu	37	2	169995847	169995847	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:169995847G>A	ENST00000263816.3	-	74	13587	c.13302C>T	c.(13300-13302)atC>atT	p.I4434I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4434					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)	CAATTACGACGATCAAGAGGA	0.507000													18	23					0	0	0.006122	0	0
ASAH2	56624	broad.mit.edu	37	10	52003094	52003094	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:52003094G>A	ENST00000395526.3	-	3	377	c.378C>T	c.(376-378)tcC>tcT	p.S126S	ASAH2_ENST00000447815.1_Silent_p.S126S|ASAH2_ENST00000329428.6_Silent_p.S107S	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	126					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						CATTCTGGCCGGATTTGCCAT	0.493000													10	34					0	0	0.008291	0	0
ATP13A5	344905	broad.mit.edu	37	3	193025133	193025133	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:193025133C>T	ENST00000342358.4	-	22	2668	c.2551G>A	c.(2551-2553)Gga>Aga	p.G851R	ATP13A5_ENST00000495496.1_5'UTR|ATP13A5-AS1_ENST00000414634.1_RNA	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	851					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TCGTTAGCTCCATCTCCACAC	0.453000													24	23					0	0	0.004656	0	0
ABCC9	10060	broad.mit.edu	37	12	22005137	22005137	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:22005137C>T	ENST00000261200.4	-	22	2662	c.2663G>A	c.(2662-2664)gGa>gAa	p.G888E	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.G852E|ABCC9_ENST00000261201.4_Missense_Mutation_p.G888E	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	888	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TAGGACACTTCCATCTTTCAT	0.368000													14	3					0	0	0.003163	0	0
MAMDC2	256691	broad.mit.edu	37	9	72833384	72833384	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:72833384G>A	ENST00000377182.4	+	12	2400	c.1783G>A	c.(1783-1785)Ggc>Agc	p.G595S	SMC5-AS1_ENST00000594708.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	595	MAM 4.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						AGGGGGCACTGGCCTGCTGAG	0.498000													20	56					0	0	0.003330	0	0
VNN2	8875	broad.mit.edu	37	6	133078616	133078616	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:133078616G>A	ENST00000326499.6	-	2	407	c.283C>T	c.(283-285)Cct>Tct	p.P95S	VNN2_ENST00000525270.1_Missense_Mutation_p.P42S|VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525289.1_Missense_Mutation_p.P95S	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	95	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TCCAGATAAGGGAAAACAGTT	0.403000													22	27					0	0	0.010504	0	0
REG1A	5967	broad.mit.edu	37	2	79349191	79349191	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:79349191G>A	ENST00000233735.1	+	4	364	c.261G>A	c.(259-261)ctG>ctA	p.L87L		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	87	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TGGCCTCACTGATTAAGGAGA	0.502000													19	54					0	0	0.008871	0	0
TRBV7-1	28597	broad.mit.edu	37	7	142032367	142032367	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142032367G>A	ENST00000547918.2	+	0	220																											GCAGGGCCTGGAGTTTCCAAT	0.507000													8	9					0	0	0.003080	0	0
MYH11	4629	broad.mit.edu	37	16	15854489	15854489	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:15854489C>T	ENST00000338282.6	-	11	1262	c.1156G>A	c.(1156-1158)Gga>Aga	p.G386R	MYH11_ENST00000396324.3_Missense_Mutation_p.G393R|MYH11_ENST00000300036.5_Missense_Mutation_p.G386R|MYH11_ENST00000452625.2_Missense_Mutation_p.G393R|MYH11_ENST00000576790.1_Missense_Mutation_p.G386R	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	386	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACATTAATTCCCATGAGGTGG	0.443000			T	CBFB	AML								9	93					0	0	0.004482	0	0
PSG7	5676	broad.mit.edu	37	19	43430759	43430759	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:43430759C>T	ENST00000446844.3	-	0	908				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				CATTTAGCCACCAAATGTAGG	0.478000													104	219					0	0	0.014410	0	0
DIRAS1	148252	broad.mit.edu	37	19	2717669	2717669	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:2717669G>A	ENST00000323469.4	-	2	319	c.136C>T	c.(136-138)Cag>Tag	p.Q46*	DIRAS1_ENST00000585334.1_Nonsense_Mutation_p.Q46*	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	46					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		CTGATCACCTGCCGGTAGGTG	0.657000													15	25					0	0	0.004990	0	0
CHST8	64377	broad.mit.edu	37	19	34180092	34180092	+	Translation_Start_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:34180092G>A	ENST00000262622.3	+	0	683				CHST8_ENST00000604556.1_De_novo_Start_InFrame|CHST8_ENST00000434302.1_De_novo_Start_InFrame|CHST8_ENST00000438847.2_De_novo_Start_InFrame	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8						carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					ATCTCGGCCTGATGGACGCCT	0.637000													6	17					0	0	0.001168	0	0
MUC17	140453	broad.mit.edu	37	7	100684188	100684188	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100684188C>T	ENST00000306151.4	+	3	9555	c.9491C>T	c.(9490-9492)aCt>aTt	p.T3164I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3164	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGGAAGTACTCCATTAACA	0.493000													61	167					0	0	0.014410	0	0
CNTRL	11064	broad.mit.edu	37	9	123935993	123935993	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:123935993G>T	ENST00000373855.1	+	42	6985	c.6725G>T	c.(6724-6726)cGt>cTt	p.R2242L	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Missense_Mutation_p.R2242L|CNTRL_ENST00000373850.1_Missense_Mutation_p.R1690L			Q7Z7A1	CNTRL_HUMAN	centriolin	2242	Sufficient for interaction with HOOK2.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GAGAAACTGCGTCACCGGGAA	0.468000													13	108					0.000151284	0.000163928	0.001855	1	0
SLC26A5	375611	broad.mit.edu	37	7	103018973	103018973	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:103018973C>T	ENST00000306312.3	-	17	1966	c.1705G>A	c.(1705-1707)Gga>Aga	p.G569R	SLC26A5_ENST00000393729.1_Missense_Mutation_p.G532R|SLC26A5_ENST00000393723.1_Missense_Mutation_p.G537R|SLC26A5_ENST00000432958.2_Missense_Mutation_p.G537R|SLC26A5_ENST00000393727.1_Missense_Mutation_p.G569R|SLC26A5_ENST00000393730.1_Missense_Mutation_p.G537R|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000339444.6_Missense_Mutation_p.G569R|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.G2R	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	569	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CTCCTTGCTCCCATGATGACT	0.493000													30	71					0	0	0.003271	0	0
ABCA7	10347	broad.mit.edu	37	19	1062201	1062201	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:1062201C>T	ENST00000263094.6	+	42	5832	c.5601C>T	c.(5599-5601)ctC>ctT	p.L1867L	ABCA7_ENST00000433129.1_Silent_p.L1867L|ABCA7_ENST00000435683.2_Silent_p.L1729L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1867	ABC transporter 2.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		CTGCGCACCTCAGCATGGGAT	0.682000													27	191					0	0	0.003954	0	0
ADAM19	8728	broad.mit.edu	37	5	156991385	156991385	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:156991385T>A	ENST00000257527.4	-	3	325	c.247A>T	c.(247-249)Aat>Tat	p.N83Y	ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000517905.1_Missense_Mutation_p.N83Y|ADAM19_ENST00000394020.1_Missense_Mutation_p.N85Y	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	83					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACTTACTCATTCTTCTCCAGG	0.468000													27	52					0	0	0.010818	0	0
OR4E2	26686	broad.mit.edu	37	14	22133687	22133687	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:22133687C>T	ENST00000408935.1	+	1	391	c.391C>T	c.(391-393)Cac>Tac	p.H131Y		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CACTCCACTCCACTACCCCAA	0.483000													50	67					0	0	0.014410	0	0
LACRT	90070	broad.mit.edu	37	12	55028623	55028623	+	Translation_Start_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:55028623C>T	ENST00000257867.4	-	1	56	c.3G>A	c.(1-3)atG>atA	p.M1I	LACRT_ENST00000547511.1_Start_Codon_SNP_p.M1I	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	1					calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						TGGTAAATTTCATTCTTTGGG	0.512000													8	21					0	0	0.003080	0	0
NLRP10	338322	broad.mit.edu	37	11	7981881	7981881	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:7981881G>A	ENST00000328600.2	-	2	1439	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	426	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTTCAAATAGGAACCTCTGGT	0.542000													16	65					0	0	0.004007	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712378	140712378	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140712378C>T	ENST00000517417.1	+	1	2127	c.2127C>T	c.(2125-2127)atC>atT	p.I709I	PCDHGA1_ENST00000378105.3_Silent_p.I709I	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTCGTCATCGTGCTGCTGG	0.667000													18	53					0	0	0.006122	0	0
GJC1	10052	broad.mit.edu	37	17	42882180	42882180	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:42882180C>T	ENST00000426548.1	-	3	1275	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	GJC1_ENST00000590758.1_Missense_Mutation_p.E336K|GJC1_ENST00000592524.1_Missense_Mutation_p.E336K|GJC1_ENST00000330514.4_Missense_Mutation_p.E336K	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	336					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TGCAGAGCCTCCAGGTCAGCT	0.557000													63	27					0	0	0.014410	0	0
TJP1	7082	broad.mit.edu	37	15	30034858	30034858	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:30034858G>A	ENST00000346128.6	-	9	1612	c.1138C>T	c.(1138-1140)Cct>Tct	p.P380S	TJP1_ENST00000545208.2_Missense_Mutation_p.P380S|TJP1_ENST00000356107.6_Missense_Mutation_p.P380S|TJP1_ENST00000400011.2_Missense_Mutation_p.P384S	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	380					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GGAAGAGAAGGTGTTTGTTTC	0.368000													20	61					0	0	0.010504	0	0
COL7A1	1294	broad.mit.edu	37	3	48629344	48629344	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:48629344C>T	ENST00000328333.8	-	10	1451	c.1344G>A	c.(1342-1344)tgG>tgA	p.W448*	COL7A1_ENST00000454817.1_Nonsense_Mutation_p.W448*	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	448	Fibronectin type-III 3.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTCACGCCGCCATTCCAACC	0.627000													28	72					0	0	0.009535	0	0
TTLL10	254173	broad.mit.edu	37	1	1115497	1115497	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:1115497G>A	ENST00000379290.1	+	6	456	c.283G>A	c.(283-285)Gga>Aga	p.G95R	TTLL10_ENST00000379288.3_Missense_Mutation_p.G22R|TTLL10_ENST00000379289.1_Missense_Mutation_p.G95R			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	95					protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGACGCAGATGGACACTGTGG	0.687000													5	19					0	0	0.001168	0	0
C10orf118	55088	broad.mit.edu	37	10	115922739	115922739	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:115922739G>A	ENST00000369287.3	-	2	555	c.289C>T	c.(289-291)Cct>Tct	p.P97S	C10orf118_ENST00000369286.1_Missense_Mutation_p.P97S|C10orf118_ENST00000369285.3_Missense_Mutation_p.P97S	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	97										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TTTCCACTAGGAAAATTAGCT	0.348000													11	31					0	0	0.008291	0	0
SLC8A2	6543	broad.mit.edu	37	19	47969130	47969130	+	Silent	SNP	G	G	A	rs118059830	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:47969130G>A	ENST00000236877.6	-	2	926	c.531C>T	c.(529-531)atC>atT	p.I177I	SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	177					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TGCACACGGCGATGACCACAA	0.582000													8	22					0	0	0.003080	0	0
ADCY4	196883	broad.mit.edu	37	14	24791356	24791356	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:24791356C>T	ENST00000310677.4	-	21	2615	c.2502G>A	c.(2500-2502)atG>atA	p.M834I	ADCY4_ENST00000554068.2_Missense_Mutation_p.M834I|ADCY4_ENST00000418030.2_Missense_Mutation_p.M834I	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	834					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TCAGGTTCTCCATCGTCTCTG	0.622000													57	60					0	0	0.014410	0	0
RBAK	57786	broad.mit.edu	37	7	5103977	5103977	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:5103977C>T	ENST00000396912.1	+	5	1409	c.890C>T	c.(889-891)tCc>tTc	p.S297F	RBAK_ENST00000407184.1_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.S297F|RBAK_ENST00000396904.2_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	297					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TGTGGGAAATCCTTCAGCCAA	0.403000													16	23					0	0	0.004990	0	0
LALBA	3906	broad.mit.edu	37	12	48962868	48962868	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:48962868C>T	ENST00000549817.1	-	2	334	c.289G>A	c.(289-291)Gac>Aac	p.D97N	LALBA_ENST00000301046.2_Missense_Mutation_p.D97N			P00709	LALBA_HUMAN	lactalbumin, alpha-	97					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						TACTCACTGTCACAGGAGATG	0.483000													35	25					0	0	0.006999	0	0
CORO2A	7464	broad.mit.edu	37	9	100888952	100888952	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:100888952G>A	ENST00000343933.5	-	11	1582	c.1325C>T	c.(1324-1326)tCc>tTc	p.S442F	CORO2A_ENST00000375077.4_Missense_Mutation_p.S442F	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	442					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	p.S442F(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CAACAGGGAGGAAGACCTCCA	0.547000													52	72					0	0	0.014410	0	0
MBD5	55777	broad.mit.edu	37	2	149247110	149247110	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:149247110G>A	ENST00000407073.1	+	12	4207	c.3210G>A	c.(3208-3210)caG>caA	p.Q1070Q	MBD5_ENST00000404807.1_Silent_p.Q1303Q	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1070						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TTGGTCAACAGGTGAAGGATG	0.502000													17	53					0	0	0.004990	0	0
CNTN6	27255	broad.mit.edu	37	3	1415662	1415662	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:1415662C>T	ENST00000446702.2	+	16	2627	c.2000C>T	c.(1999-2001)cCt>cTt	p.P667L	CNTN6_ENST00000350110.2_Missense_Mutation_p.P667L|CNTN6_ENST00000539053.1_Missense_Mutation_p.P595L			Q9UQ52	CNTN6_HUMAN	contactin 6	667	Fibronectin type-III 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGTTTGAGTCCTTGGGTGGAA	0.408000													17	28					0	0	0.007413	0	0
THBS4	7060	broad.mit.edu	37	5	79375868	79375868	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:79375868C>T	ENST00000350881.2	+	20	2842	c.2652C>T	c.(2650-2652)ttC>ttT	p.F884F	THBS4_ENST00000511733.1_Silent_p.F793F|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000504720.1_3'UTR	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	884	TSP C-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ACCGCTGGTTCCTACAGCACA	0.587000													8	7					0	0	0.004482	0	0
CFB	629	broad.mit.edu	37	6	31901545	31901545	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:31901545G>A	ENST00000556679.1	+	3	470	c.415G>A	c.(415-417)Gag>Aag	p.E139K	C2_ENST00000418949.2_Missense_Mutation_p.E201K|CFB_ENST00000477310.1_Intron|C2_ENST00000452323.2_Missense_Mutation_p.E78K|CFB_ENST00000456570.1_Missense_Mutation_p.E139K|C2_ENST00000299367.5_Missense_Mutation_p.E201K|C2_ENST00000469372.1_Silent_p.R32R|C2_ENST00000442278.2_Missense_Mutation_p.E69K			P00751	CFAB_HUMAN	complement factor B	215	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GAGTGGAACGGAGCCCATCTG	0.652000													76	162					0	0	0.014410	0	0
EPHA3	2042	broad.mit.edu	37	3	89259197	89259197	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:89259197G>A	ENST00000336596.2	+	3	566	c.341G>A	c.(340-342)gGa>gAa	p.G114E	EPHA3_ENST00000452448.2_Missense_Mutation_p.G114E|EPHA3_ENST00000494014.1_Missense_Mutation_p.G114E	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	114						extracellular region|integral to plasma membrane	ATP binding	p.G114E(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTGGTTTTAGGAACTTGCAAG	0.438000										TSP Lung(6;0.00050)			34	58					0	0	0.012213	0	0
SLC1A3	6507	broad.mit.edu	37	5	36677139	36677139	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:36677139T>G	ENST00000265113.4	+	6	1189	c.713T>G	c.(712-714)gTg>gGg	p.V238G	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Missense_Mutation_p.V238G	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	238					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	CCAGGATCTGTGAATGGAGTC	0.507000													10	33					0	0	0.008291	0	0
C20orf26	26074	broad.mit.edu	37	20	20144724	20144724	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:20144724G>A	ENST00000245957.5	+	11	1133	c.1057G>A	c.(1057-1059)Gga>Aga	p.G353R	C20orf26_ENST00000377306.1_Missense_Mutation_p.G353R|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.G353R	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	353										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CATCTCCACTGGATATGCACA	0.532000													21	47					0	0	0.004656	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130286860	130286860	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:130286860C>T	ENST00000257359.6	-	3	1777	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	357	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGGTGTGGGCCGCCTGGAGCC	0.582000													8	115					0	0	0.006214	0	0
TBX15	6913	broad.mit.edu	37	1	119466167	119466167	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:119466167G>A	ENST00000369429.3	-	5	762	c.753C>T	c.(751-753)ttC>ttT	p.F251F	TBX15_ENST00000207157.3_Silent_p.F145F			Q96SF7	TBX15_HUMAN	T-box 15	251						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GGTCACTGCTGAAGTCTTTGC	0.463000													26	55					0	0	0.005443	0	0
IRAK2	3656	broad.mit.edu	37	3	10276308	10276308	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:10276308C>T	ENST00000256458.4	+	11	1528	c.1438C>T	c.(1438-1440)Ctg>Ttg	p.L480L		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	480	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GGCTGCCTGCCTGTGCCTGCG	0.697000													27	42					0	0	0.003271	0	0
FER1L6	654463	broad.mit.edu	37	8	125061997	125061997	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:125061997G>A	ENST00000522917.1	+	22	3080	c.2874_splice	c.e22+1	p.Q958_splice	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Splice_Site_p.Q958_splice	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	958						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AACTGCTGCAGGTGAGTGAAC	0.522000													16	83					0	0	0.007413	0	0
CRTAM	56253	broad.mit.edu	37	11	122722430	122722430	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:122722430C>T	ENST00000227348.4	+	3	270	c.223C>T	c.(223-225)Cat>Tat	p.H75Y		NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	75	Ig-like V-type.				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CCAGCTTCTTCATCACTCGGC	0.438000													25	35					0	0	0.004656	0	0
EPS8L1	54869	broad.mit.edu	37	19	55591120	55591120	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55591120G>A	ENST00000201647.6	+	5	236	c.180G>A	c.(178-180)agG>agA	p.R60R	EPS8L1_ENST00000540810.1_5'UTR|EPS8L1_ENST00000586329.1_Silent_p.R42R|EPS8L1_ENST00000592824.1_3'UTR	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	60						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ATGCCTCCAGGAAGTTGGCCG	0.622000													14	33					0	0	0.002450	0	0
ROBO2	6092	broad.mit.edu	37	3	77612365	77612365	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:77612365G>A	ENST00000461745.1	+	11	2467	c.1567G>A	c.(1567-1569)Ggg>Agg	p.G523R	ROBO2_ENST00000487694.3_Missense_Mutation_p.G539R|ROBO2_ENST00000332191.8_Missense_Mutation_p.G523R	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	523	Fibronectin type-III 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGACCTGCCAGGGCCACCATC	0.448000													12	31					0	0	0.010729	0	0
COL4A6	1288	broad.mit.edu	37	X	107438346	107438346	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:107438346C>T	ENST00000334504.7	-	15	1147	c.914G>A	c.(913-915)gGt>gAt	p.G305D	COL4A6_ENST00000372216.4_Missense_Mutation_p.G306D|COL4A6_ENST00000545689.1_Missense_Mutation_p.G305D|COL4A6_ENST00000394872.2_Intron|COL4A6_ENST00000538570.1_Missense_Mutation_p.G305D	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	306	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCCTTCTGAACCCATGGGACC	0.403000									Alport syndrome with Diffuse Leiomyomatosis				39	20					0	0	0.014410	0	0
RNF152	220441	broad.mit.edu	37	18	59483292	59483292	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:59483292G>A	ENST00000312828.3	-	2	1504	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	135					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				GTTCAGCAGGGATGGTCACCA	0.692000													19	35					0	0	0.007413	0	0
AICDA	57379	broad.mit.edu	37	12	8757480	8757480	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:8757480C>T	ENST00000229335.6	-	4	569	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	AICDA_ENST00000537228.1_Missense_Mutation_p.E146K	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	156					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					AAAGTTCTTTCGTGGTTTTCT	0.423000													44	33					0	0	0.014410	0	0
ZNF99	7652	broad.mit.edu	37	19	22939105	22939105	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:22939105C>T	ENST00000397104.3	-	8	3015	c.3016G>A	c.(3016-3018)Gga>Aga	p.G1006R						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GTTTTCCCTCCAGTATGAATT	0.373000													22	27					0	0	0.014323	0	0
TTN	7273	broad.mit.edu	37	2	179633554	179633554	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179633554C>T	ENST00000589042.1	-	38	9233	c.9009G>A	c.(9007-9009)aaG>aaA	p.K3003K	TTN_ENST00000460472.2_Silent_p.K2957K|TTN_ENST00000360870.5_Silent_p.K3003K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.K2957K|TTN_ENST00000342992.6_Silent_p.K3003K|TTN_ENST00000342175.6_Silent_p.K2957K|TTN_ENST00000591111.1_Silent_p.K3003K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2742	Ig-like 17.						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)			CCACACCATTCTTTAACCATT	0.403000													12	42					0	0	0.010729	0	0
LCN9	392399	broad.mit.edu	37	9	138556077	138556077	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:138556077C>T	ENST00000277526.3	+	2	166	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	56						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		AAATGGAGACCTGAGGGTCTT	0.473000													22	43					0	0	0.002780	0	0
MALL	7851	broad.mit.edu	37	2	110849256	110849256	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:110849256G>A	ENST00000272462.2	-	2	970	c.197C>T	c.(196-198)tCg>tTg	p.S66L	MALL_ENST00000427178.1_Intron	NM_005434.4	NP_005425.1	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	66	MARVEL.				cholesterol homeostasis	clathrin-coated vesicle|Golgi membrane|integral to membrane|membrane raft|plasma membrane	protein binding			kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		GATGAGAAACGAGGTGAGCGA	0.458000													17	63					0	0	0.004990	0	0
NBEAL1	65065	broad.mit.edu	37	2	203980784	203980784	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:203980784C>T	ENST00000449802.1	+	17	2829	c.2496C>T	c.(2494-2496)taC>taT	p.Y832Y		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	832							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTCTTTACTACACAGCAAAGG	0.383000													97	300					0	0	0.014410	0	0
GRM7	2917	broad.mit.edu	37	3	7620949	7620949	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:7620949G>A	ENST00000486284.1	+	8	2630	c.2356G>A	c.(2356-2358)Gaa>Aaa	p.E786K	GRM7_ENST00000357716.4_Missense_Mutation_p.E786K|GRM7_ENST00000403881.1_Missense_Mutation_p.E786K|GRM7_ENST00000389336.4_Missense_Mutation_p.E786K|GRM7_ENST00000402647.2_Missense_Mutation_p.E786K|GRM7_ENST00000458641.2_3'UTR	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	786					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GAATTTTAACGAAGCCAAGCC	0.433000													5	36					0	0	0.000602	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125850269	125850269	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:125850269G>A	ENST00000393434.2	-	13	1930	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	ALDH1L1_ENST00000452905.2_Silent_p.I426I|ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000472186.1_Silent_p.I527I|ALDH1L1_ENST00000273450.3_Silent_p.I537I	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	527	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GGAAGGTCTGGATGGACATGC	0.617000													50	88					0	0	0.014410	0	0
CASP6	839	broad.mit.edu	37	4	110617579	110617579	+	Silent	SNP	G	G	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:110617579G>C	ENST00000265164.2	-	4	371	c.294C>G	c.(292-294)ctC>ctG	p.L98L	CASP6_ENST00000505486.1_Intron|CASP6_ENST00000352981.3_Intron	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	98					cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis	cytosol|nucleoplasm	cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		CATGAATTTTGAGCAGTAGTT	0.328000													16	14					0	0	0.004990	0	0
PRMT3	10196	broad.mit.edu	37	11	20486061	20486061	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:20486061C>T	ENST00000331079.6	+	13	1533	c.1316C>T	c.(1315-1317)aCc>aTc	p.T439I	PRMT3_ENST00000437750.2_Missense_Mutation_p.T377I	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	439							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						TCAGATTTTACCCTGAAAATC	0.363000													27	67					0	0	0.010818	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129370	248129370	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248129370G>A	ENST00000366480.3	+	1	836	c.737G>A	c.(736-738)gGa>gAa	p.G246E	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	246					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)			ATGAGCTCAGGAAAAGGACAG	0.478000													16	29					0	0	0.004990	0	0
GPNMB	10457	broad.mit.edu	37	7	23293046	23293046	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:23293046G>A	ENST00000258733.4	+	2	486	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	GPNMB_ENST00000453162.2_Missense_Mutation_p.R64Q|GPNMB_ENST00000381990.2_Missense_Mutation_p.R64Q|GPNMB_ENST00000539136.1_Intron|GPNMB_ENST00000409458.3_Missense_Mutation_p.R64Q			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	64					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			GTGTGGAAGCGGGGAGACATG	0.418000													7	36					0	0	0.001984	0	0
SDSL	113675	broad.mit.edu	37	12	113865868	113865868	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:113865868C>T	ENST00000403593.4	+	2	343	c.81C>T	c.(79-81)tcC>tcT	p.S27S	SDSL_ENST00000345635.4_Silent_p.S27S			Q96GA7	SDSL_HUMAN	serine dehydratase-like	27					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	GGGCGCTGTCCCAGGTGGCGG	0.607000													10	15					0	0	0.006214	0	0
RGS22	26166	broad.mit.edu	37	8	101083607	101083607	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:101083607G>A	ENST00000360863.6	-	6	778	c.584C>T	c.(583-585)tCa>tTa	p.S195L	RGS22_ENST00000523287.1_Intron|RGS22_ENST00000523437.1_Intron	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	195					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTCACCAAGTGATACATAGAA	0.338000													12	39					0	0	0.013537	0	0
SPATS2L	26010	broad.mit.edu	37	2	201284121	201284121	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:201284121C>T	ENST00000409988.3	+	6	870	c.347C>T	c.(346-348)tCg>tTg	p.S116L	SPATS2L_ENST00000451764.2_Missense_Mutation_p.S116L|SPATS2L_ENST00000409140.3_Missense_Mutation_p.S116L|SPATS2L_ENST00000409718.1_Missense_Mutation_p.S116L|SPATS2L_ENST00000409755.3_Missense_Mutation_p.S146L|SPATS2L_ENST00000358677.4_Missense_Mutation_p.S116L|SPATS2L_ENST00000360760.5_Missense_Mutation_p.S116L|SPATS2L_ENST00000409151.1_Missense_Mutation_p.S124L|SPATS2L_ENST00000409385.1_Missense_Mutation_p.S56L	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	116						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						AAGGACAGCTCGTCCACAGAT	0.542000													10	19					0	0	0.006214	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834439	101834439	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:101834439C>T	ENST00000506729.1	-	1	281	c.110G>A	c.(109-111)gGa>gAa	p.G37E	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.G37E|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G37E|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.G37E|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.G37E			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	37						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)		CTTCGGGGTTCCCTTGGCCCT	0.607000													27	102					0	0	0.008361	0	0
ASTN1	460	broad.mit.edu	37	1	176853578	176853578	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:176853578C>T	ENST00000367654.2	-	19	3160	c.3147G>A	c.(3145-3147)ctG>ctA	p.L1049L	ASTN1_ENST00000424564.2_Silent_p.L1041L|ASTN1_ENST00000367657.3_Silent_p.L1041L|ASTN1_ENST00000361833.2_Silent_p.L1041L			O14525	ASTN1_HUMAN	astrotactin 1	1049	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTTCCCACTCCAGGACCACAA	0.532000													24	36					0	0	0.002780	0	0
ACOXL	55289	broad.mit.edu	37	2	111691088	111691088	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:111691088G>A	ENST00000389811.4	+	12	1152	c.928G>A	c.(928-930)Gag>Aag	p.E310K	ACOXL_ENST00000439055.1_Missense_Mutation_p.E310K			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	310					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						CCTCCTGGATGAGGATGTCTT	0.577000													14	43					0	0	0.001855	0	0
ABCC11	85320	broad.mit.edu	37	16	48239429	48239429	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:48239429G>A	ENST00000394747.1	-	12	2049	c.1700C>T	c.(1699-1701)tCg>tTg	p.S567L	ABCC11_ENST00000394748.1_Missense_Mutation_p.S567L|ABCC11_ENST00000353782.5_Missense_Mutation_p.S567L|ABCC11_ENST00000537808.1_Missense_Mutation_p.S567L|ABCC11_ENST00000356608.2_Missense_Mutation_p.S567L	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	567	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CACCCCCACCGAGCCCTCGAG	0.627000													23	46					0	0	0.005443	0	0
MUC16	94025	broad.mit.edu	37	19	9073586	9073586	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9073586G>A	ENST00000397910.4	-	3	14063	c.13860C>T	c.(13858-13860)atC>atT	p.I4620I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4622	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						TGGAGAGGATGATGTTTGACT	0.478000													16	39					0	0	0.003163	0	0
CARD11	84433	broad.mit.edu	37	7	2968236	2968236	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:2968236G>A	ENST00000396946.4	-	13	2153	c.1750C>T	c.(1750-1752)Cgc>Tgc	p.R584C		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	584					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		ACCCACCTGCGATGGGGCGCG	0.662000			Mis		DLBCL								19	51					0	0	0.002780	0	0
HAL	3034	broad.mit.edu	37	12	96384198	96384198	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:96384198C>T	ENST00000261208.3	-	10	1196	c.828G>A	c.(826-828)ccG>ccA	p.P276P	HAL_ENST00000541929.1_Silent_p.P68P|HAL_ENST00000538703.1_Silent_p.P276P|HAL_ENST00000551562.1_5'UTR	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	276					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	p.P276P(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	AGCCACTCTTCGGAGACCACA	0.527000													51	30					0	0	0.014410	0	0
TRPM1	4308	broad.mit.edu	37	15	31342674	31342674	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:31342674C>T	ENST00000542188.1	-	11	1739	c.1426G>A	c.(1426-1428)Ggg>Agg	p.G476R	TRPM1_ENST00000256552.6_Missense_Mutation_p.G459R|TRPM1_ENST00000397795.2_Missense_Mutation_p.G437R	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	437					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ttcactttccctttcttcttg	0.547000													10	16					0	0	0.006214	0	0
FAM194A	131831	broad.mit.edu	37	3	150387157	150387157	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:150387157G>A	ENST00000295910.6	-	12	1477	c.1425C>T	c.(1423-1425)ccC>ccT	p.P475P	FAM194A_ENST00000491361.1_Silent_p.P329P	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	475										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CAGGGTTAGTGGGCATATCTT	0.463000													18	62					0	0	0.006122	0	0
PDE11A	50940	broad.mit.edu	37	2	178936771	178936771	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:178936771G>A	ENST00000286063.5	-	1	711	c.394C>T	c.(394-396)Cac>Tac	p.H132Y	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	132					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CTGTTCACGTGGATGGCCTTG	0.617000									Primary Pigmented Nodular Adrenocortical Disease, Familial				20	66					0	0	0.014323	0	0
ROBO2	6092	broad.mit.edu	37	3	77571981	77571981	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:77571981G>A	ENST00000461745.1	+	6	1762	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	ROBO2_ENST00000487694.3_Missense_Mutation_p.E304K|ROBO2_ENST00000332191.8_Missense_Mutation_p.E288K	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	288	Ig-like C2-type 3.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GAGTACAGATGAAGGCACCTA	0.368000													24	51					0	0	0.002780	0	0
WFDC10B	280664	broad.mit.edu	37	20	44333195	44333195	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:44333195G>A	ENST00000335769.2	-	2	107	c.80C>T	c.(79-81)tCc>tTc	p.S27F	WFDC13_ENST00000305479.2_Silent_p.G67G|WFDC10B_ENST00000330523.5_5'UTR	NM_172131.2	NP_742143.1	Q8IUB3	WF10B_HUMAN	WAP four-disulfide core domain 10B	0						extracellular region	peptidase inhibitor activity			lung(2)|ovary(1)|stomach(1)	4		Myeloproliferative disorder(115;0.0122)				CCTTCTGTGGGATAGTCTGTT	0.473000													26	49					0	0	0.004656	0	0
MTMR8	55613	broad.mit.edu	37	X	63444921	63444921	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:63444921C>T	ENST00000453546.1	-	10	1824	c.1735G>A	c.(1735-1737)Ggg>Agg	p.G579R	ASB12_ENST00000396130.2_Missense_Mutation_p.G195R|ASB12_ENST00000362002.2_Missense_Mutation_p.G204R			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	605						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GGGTCTGCCCCGTGGAGCAAA	0.562000													9	4					0	0	0.008291	0	0
FMNL1	752	broad.mit.edu	37	17	43311019	43311019	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:43311019G>A	ENST00000331495.3	+	5	742	c.406G>A	c.(406-408)Gtg>Atg	p.V136M	FMNL1_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Missense_Mutation_p.V136M	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	136	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CCACAGGTGGGTGCAGGAGTT	0.627000													32	22					0	0	0.005524	0	0
LGSN	51557	broad.mit.edu	37	6	63995607	63995607	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:63995607C>T	ENST00000370658.5	-	3	248	c.215G>A	c.(214-216)aGa>aAa	p.R72K	LGSN_ENST00000370657.4_Missense_Mutation_p.R72K	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	72					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GTGTTTCATTCTAGAAGAGAG	0.438000													14	29					0	0	0.003163	0	0
CTAGE5	4253	broad.mit.edu	37	14	39790138	39790138	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:39790138C>T	ENST00000553728.1	+	23	3368	c.3155C>T	c.(3154-3156)tCc>tTc	p.S1052F	CTAGE5_ENST00000341502.5_Missense_Mutation_p.S517F|CTAGE5_ENST00000553352.1_Missense_Mutation_p.S488F|CTAGE5_ENST00000396158.2_Missense_Mutation_p.S522F|CTAGE5_ENST00000557038.1_Missense_Mutation_p.S437F|CTAGE5_ENST00000396165.4_Missense_Mutation_p.S488F|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.S488F|CTAGE5_ENST00000280083.3_Missense_Mutation_p.S517F|CTAGE5_ENST00000556148.1_Missense_Mutation_p.S442F|CTAGE5_ENST00000341749.3_Missense_Mutation_p.S505F|CTAGE5_ENST00000348007.3_Intron																							CCAGAGCATTCCCCATATGGT	0.418000													34	57					0	0	0.006999	0	0
COL5A1	1289	broad.mit.edu	37	9	137645726	137645726	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:137645726G>A	ENST00000371817.3	+	15	2164	c.1750G>A	c.(1750-1752)Gag>Aag	p.E584K		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	584	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTTGAAGGGCGAGCCGGGAGA	0.652000													9	56					0	0	0.008291	0	0
AMICA1	120425	broad.mit.edu	37	11	118074198	118074198	+	Silent	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:118074198C>A	ENST00000292067.7	-	5	1128	c.687G>T	c.(685-687)ggG>ggT	p.G229G	AMICA1_ENST00000533261.1_Silent_p.G228G|AMICA1_ENST00000356289.5_Silent_p.G239G|AMICA1_ENST00000526620.1_Silent_p.G200G	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	239	Ig-like V-type 2.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACACCAGGTTCCCTAGGTGGA	0.527000													59	65					3.30712e-30	3.63523e-30	0.014410	1	0
NLRP12	91662	broad.mit.edu	37	19	54307219	54307219	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:54307219G>A	ENST00000324134.6	-	6	2740	c.2572C>T	c.(2572-2574)Cta>Tta	p.L858L	NLRP12_ENST00000391773.1_Silent_p.L859L|NLRP12_ENST00000391775.3_Silent_p.L858L|NLRP12_ENST00000351894.4_Silent_p.L858L|NLRP12_ENST00000345770.5_Silent_p.L859L|NLRP12_ENST00000354278.3_Silent_p.L858L|NLRP12_ENST00000391772.1_Silent_p.L859L|NLRP12_ENST00000535162.1_Silent_p.L858L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	858					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AAAGTCCGTAGTCTGCAGACT	0.483000													8	44					0	0	0.004482	0	0
BPIFB1	92747	broad.mit.edu	37	20	31890760	31890760	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:31890760C>T	ENST00000253354.1	+	11	1181	c.1020C>T	c.(1018-1020)atC>atT	p.I340I	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	340						extracellular space	lipid binding										TCGTGAAGATCCTAACTCAGG	0.562000													12	47					0	0	0.001855	0	0
OSBPL6	114880	broad.mit.edu	37	2	179238682	179238682	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179238682C>T	ENST00000190611.4	+	15	1837	c.1461C>T	c.(1459-1461)tcC>tcT	p.S487S	OSBPL6_ENST00000409045.3_Silent_p.S456S|OSBPL6_ENST00000392505.2_Silent_p.S512S|OSBPL6_ENST00000315022.2_Silent_p.S491S|OSBPL6_ENST00000359685.3_Silent_p.S451S|OSBPL6_ENST00000357080.4_Silent_p.S420S|OSBPL6_ENST00000409631.1_Silent_p.S451S	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	487				S -> P (in Ref. 4; BAC04248).	lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GCCGCCTCTCCATGTCAGAGT	0.488000													20	43					0	0	0.010504	0	0
ZNF600	162966	broad.mit.edu	37	19	53269440	53269440	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:53269440C>T	ENST00000338230.3	-	3	1836	c.1569G>A	c.(1567-1569)gaG>gaA	p.E523E		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	523					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TGTAAGGTTTCTCACCACTAT	0.443000													12	112					0	0	0.001855	0	0
CHP2	63928	broad.mit.edu	37	16	23767248	23767248	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:23767248G>A	ENST00000300113.2	+	3	644	c.221_splice	c.e3+1	p.G74_splice		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	74	EF-hand 2.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		TTCCCCGATGGGTGAGGCTTG	0.582000													14	23					0	0	0.003163	0	0
HYAL4	23553	broad.mit.edu	37	7	123516852	123516852	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:123516852G>A	ENST00000223026.4	+	5	1727	c.1089G>A	c.(1087-1089)ggG>ggA	p.G363G	HYAL4_ENST00000476325.1_Silent_p.G363G	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	363					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CTGATTTAGGGAGCTACATAG	0.458000													9	50					0	0	0.008291	0	0
OR5H2	79310	broad.mit.edu	37	3	98001750	98001750	+	Missense_Mutation	SNP	G	G	A	rs149978587		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:98001750G>A	ENST00000355273.2	+	1	19	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TGAGGACATGGAACAGGATAA	0.408000													27	74					0	0	0.006320	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15580404	15580404	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15580404G>A	ENST00000292609.4	-	4	1809	c.1680C>T	c.(1678-1680)ccC>ccT	p.P560P	PGLYRP2_ENST00000340880.4_Intron			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	0					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						TGTAGACGGAGGGGCGGCGGG	0.697000													4	8					0	0	0.009096	0	0
RNF148	378925	broad.mit.edu	37	7	122342631	122342631	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:122342631C>G	ENST00000434824.1	-	1	390	c.174G>C	c.(172-174)gaG>gaC	p.E58D	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|RNF148_ENST00000447240.1_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	58						integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						ACACTCCACTCTCTCCTAATT	0.448000													8	26					0	0	0.004482	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698178	111698178	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:111698178C>T	ENST00000340433.2	+	1	452	c.222C>T	c.(220-222)ttC>ttT	p.F74F		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	74							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCTCAGAGTTCCTCACTCAGG	0.483000													23	9					0	0	0.014323	0	0
ERBB4	2066	broad.mit.edu	37	2	212652858	212652858	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:212652858C>T	ENST00000342788.4	-	4	758	c.448G>A	c.(448-450)Gac>Aac	p.D150N	ERBB4_ENST00000436443.1_Missense_Mutation_p.D150N|ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000402597.1_Missense_Mutation_p.D150N	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	150					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTGTTCTGGTCTACATAGACT	0.348000										TSP Lung(8;0.080)			4	23					0	0	0.009096	0	0
OR2C3	81472	broad.mit.edu	37	1	247695031	247695031	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:247695031G>A	ENST00000366487.3	-	2	1144	c.783C>T	c.(781-783)ctC>ctT	p.L261L	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGGCTGGCTGGAGATACATGA	0.522000													26	53					0	0	0.003954	0	0
C21orf62	56245	broad.mit.edu	37	21	34166294	34166294	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:34166294C>T	ENST00000536776.1	-	2	579	c.439G>A	c.(439-441)Gac>Aac	p.D147N	C21orf49_ENST00000453404.1_Intron|C21orf49_ENST00000382378.1_Intron|C21orf62_ENST00000490358.1_Missense_Mutation_p.D147N|C21orf49_ENST00000382377.3_Intron|C21orf62_ENST00000479548.1_Missense_Mutation_p.D147N|C21orf62_ENST00000487113.1_Missense_Mutation_p.D147N|C21orf49_ENST00000382375.4_Intron|C21orf49_ENST00000477513.1_Intron	NM_001162495.2|NM_001162496.2|NM_019596.5	NP_001155967.2|NP_001155968.2|NP_062542.5	Q9NYP8	CU062_HUMAN	chromosome 21 open reading frame 62	147										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6		Myeloproliferative disorder(46;0.0255)				GAGTCACTGTCCCCACCGCTA	0.502000													14	16					0	0	0.002450	0	0
OR2A25	392138	broad.mit.edu	37	7	143771368	143771368	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:143771368G>A	ENST00000408898.2	+	1	94	c.56G>A	c.(55-57)gGc>gAc	p.G19D		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TTTCCCATTGGCCCAAGGATT	0.498000													28	61					0	0	0.007291	0	0
RGS18	64407	broad.mit.edu	37	1	192153620	192153620	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:192153620G>A	ENST00000367460.3	+	5	825	c.644G>A	c.(643-645)cGa>cAa	p.R215Q		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	215					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTAGGAGACGATCACGCTCA	0.358000													14	34					0	0	0.001855	0	0
NOL4	8715	broad.mit.edu	37	18	31537457	31537457	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:31537457C>T	ENST00000261592.5	-	8	1558	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K	NOL4_ENST00000269185.4_Intron|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000538587.1_Missense_Mutation_p.E347K|NOL4_ENST00000535475.1_Intron|NOL4_ENST00000535384.1_Missense_Mutation_p.E136K	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	421						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCCAAGTTTTCATCTACAAAC	0.478000													9	13					0	0	0.004482	0	0
TEX29	121793	broad.mit.edu	37	13	111980603	111980603	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:111980603C>A	ENST00000283547.1	+	3	261	c.132C>A	c.(130-132)tgC>tgA	p.C44*		NM_152324.1	NP_689537.1	Q8N6K0	CM016_HUMAN	testis expressed 29	44						integral to membrane											TCGGGTGCTGCTTCTACGAAG	0.577000													25	29					1.12875e-08	1.23196e-08	0.006320	1	0
GKN1	56287	broad.mit.edu	37	2	69201798	69201798	+	Missense_Mutation	SNP	C	C	T	rs141746794		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:69201798C>T	ENST00000377938.2	+	1	94	c.31C>T	c.(31-33)Cgt>Tgt	p.R11C		NM_019617.3	NP_062563.3	Q9NS71	GKN1_HUMAN	gastrokine 1	11					digestion|positive regulation of cell division	extracellular region		p.R11C(1)		breast(2)|large_intestine(4)|lung(5)	11						CCACTGCTTTCGTGAAGACAA	0.413000													16	38					0	0	0.007413	0	0
PSG11	5680	broad.mit.edu	37	19	43528851	43528851	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:43528851G>A	ENST00000401740.1	-	2	525	c.422C>T	c.(421-423)aCc>aTc	p.T141I	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000306322.7_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.T141I			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	141	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				ACGGTATAAGGTGAAGGTGAA	0.507000													49	91					0	0	0.014410	0	0
TAF1L	138474	broad.mit.edu	37	9	32631806	32631806	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:32631806C>T	ENST00000242310.4	-	1	3861	c.3772G>A	c.(3772-3774)Gaa>Aaa	p.E1258K		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1258					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTCTCCTTTTCCTGGTTCCGC	0.473000													10	45					0	0	0.006214	0	0
KRT18P55	284085	broad.mit.edu	37	17	26604187	26604187	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:26604187C>T	ENST00000577198.1	-	0	774					NR_028334.1																						GGCCCCTGGACCCCATGCTGC	0.617000													18	19					0	0	0.010504	0	0
DNAH5	1767	broad.mit.edu	37	5	13793772	13793772	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:13793772C>T	ENST00000265104.4	-	49	8180	c.8076G>A	c.(8074-8076)ggG>ggA	p.G2692G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2692	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGGTGAACTCCCCAGGCTTCT	0.443000									Kartagener syndrome				14	71					0	0	0.001855	0	0
NR3C1	2908	broad.mit.edu	37	5	142779717	142779717	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:142779717C>T	ENST00000343796.2	-	2	1681	c.688G>A	c.(688-690)Gga>Aga	p.G230R	NR3C1_ENST00000394466.2_Missense_Mutation_p.G230R|NR3C1_ENST00000394464.2_Missense_Mutation_p.G230R|NR3C1_ENST00000504572.1_Missense_Mutation_p.G230R|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000415690.2_Missense_Mutation_p.G230R|NR3C1_ENST00000424646.2_Missense_Mutation_p.G230R|NR3C1_ENST00000231509.3_Missense_Mutation_p.G230R|NR3C1_ENST00000503201.1_Missense_Mutation_p.G230R	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	230	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	TCGTCTTCTCCCGCCAGAGGA	0.438000													16	50					0	0	0.003163	0	0
MUC16	94025	broad.mit.edu	37	19	9075414	9075414	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9075414G>A	ENST00000397910.4	-	3	12235	c.12032C>T	c.(12031-12033)tCc>tTc	p.S4011F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4013	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						AGTCAAGAAGGAATTAGGCTC	0.478000													20	33					0	0	0.007413	0	0
OBSCN	84033	broad.mit.edu	37	1	228509610	228509610	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:228509610C>T	ENST00000570156.2	+	66	18013	c.17939C>T	c.(17938-17940)cCg>cTg	p.P5980L	OBSCN_ENST00000422127.1_Missense_Mutation_p.P5023L|OBSCN_ENST00000366707.4_Missense_Mutation_p.P2657L|OBSCN_ENST00000284548.11_Missense_Mutation_p.P5023L|OBSCN_ENST00000366709.4_Missense_Mutation_p.P2142L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5023	PH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACCAAAAGTCCGGCTGAAGTT	0.637000													21	33					0	0	0.008871	0	0
SLC46A3	283537	broad.mit.edu	37	13	29278211	29278211	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:29278211G>A	ENST00000266943.6	-	5	1539	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	SLC46A3_ENST00000475385.1_5'UTR|SLC46A3_ENST00000380814.4_Silent_p.F390F	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	390					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		GTGTTTCTAAGAAAGCAATAC	0.413000													26	36					0	0	0.009535	0	0
ATP2B2	491	broad.mit.edu	37	3	10381990	10381990	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:10381990G>A	ENST00000397077.1	-	20	3613	c.3038C>T	c.(3037-3039)cCa>cTa	p.P1013L	ATP2B2_ENST00000383800.4_Missense_Mutation_p.P1013L|ATP2B2_ENST00000360273.2_Missense_Mutation_p.P1058L|ATP2B2_ENST00000352432.4_Missense_Mutation_p.P1058L|ATP2B2_ENST00000343816.4_Missense_Mutation_p.P1044L			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1058					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CAGCTGCAGTGGAGAGCAGCT	0.557000													25	42					0	0	0.008361	0	0
PLSCR5	389158	broad.mit.edu	37	3	146307599	146307599	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:146307599C>T	ENST00000443512.1	-	6	1621	c.618G>A	c.(616-618)gtG>gtA	p.V206V	PLSCR5-AS1_ENST00000473817.1_RNA|PLSCR5_ENST00000492200.1_Silent_p.V206V|PLSCR5_ENST00000482567.1_Silent_p.V194V	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	206										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						TAATGGTTTTCACCTTTAGAA	0.303000													31	43					0	0	0.012213	0	0
HERPUD1	9709	broad.mit.edu	37	16	56976078	56976078	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:56976078C>T	ENST00000439977.2	+	7	1137	c.940C>T	c.(940-942)Ccg>Tcg	p.P314S	HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000344114.4_Missense_Mutation_p.P155S|HERPUD1_ENST00000379792.2_Missense_Mutation_p.P289S|HERPUD1_ENST00000300302.5_Missense_Mutation_p.P313S	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	314						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						TAGACCGAGGCCGGTTCAGAA	0.483000			T	ERG	prostate								5	110					0	0	0.001984	0	0
HDC	3067	broad.mit.edu	37	15	50555459	50555459	+	Silent	SNP	C	C	T	rs143453549		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:50555459C>T	ENST00000267845.3	-	2	579	c.177G>A	c.(175-177)ggG>ggA	p.G59G	HDC_ENST00000543581.1_Silent_p.G59G	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	59					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GTTCAATGTCCCCAAAGATGC	0.597000													17	93					0	0	0.014323	0	0
ZC3H12D	340152	broad.mit.edu	37	6	149773795	149773795	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:149773795C>T	ENST00000389942.5	-	5	991	c.744G>A	c.(742-744)agG>agA	p.R248R	ZC3H12D_ENST00000416573.2_Silent_p.R248R|ZC3H12D_ENST00000542614.1_Silent_p.R248R|ZC3H12D_ENST00000409806.3_Silent_p.R248R			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	248						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		GCTTCGGCTTCCTGCTCAGGA	0.617000													9	12					0	0	0.004482	0	0
CXorf66	347487	broad.mit.edu	37	X	139038210	139038210	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:139038210G>A	ENST00000370540.1	-	3	954	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	311						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TCTAACTTACGAAAGGACCTG	0.368000													26	30					0	0	0.006320	0	0
RBM43	375287	broad.mit.edu	37	2	152112214	152112214	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:152112214G>C	ENST00000331426.5	-	2	198	c.47C>G	c.(46-48)aCg>aGg	p.T16R		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	16	RRM.						nucleotide binding|RNA binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		AACTACAACCGTTCTTTCAGG	0.383000													7	43					0	0	0.001984	0	0
SERPINB2	5055	broad.mit.edu	37	18	61569035	61569035	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:61569035G>A	ENST00000457692.1	+	7	930	c.597G>A	c.(595-597)gtG>gtA	p.V199V	SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000299502.4_Silent_p.V199V	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	199					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	p.V199E(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TGGTCCTGGTGAATGCTGTCT	0.378000													20	54					0	0	0.003330	0	0
OR1S1	219959	broad.mit.edu	37	11	57982705	57982705	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:57982705C>T	ENST00000309433.6	+	1	489	c.489C>T	c.(487-489)ttC>ttT	p.F163F		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TCTCATGGTTCCTCAGTAATA	0.483000													20	171					0	0	0.003330	0	0
TTN	7273	broad.mit.edu	37	2	179569031	179569031	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179569031G>A	ENST00000589042.1	-	106	30290	c.30066C>T	c.(30064-30066)ttC>ttT	p.F10022F	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.F8778F|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.F9705F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9705	Glu-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)			TGCCATTTCTGAACCATTCAG	0.433000													24	53					0	0	0.002780	0	0
SLC5A11	115584	broad.mit.edu	37	16	24873971	24873971	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:24873971G>A	ENST00000347898.3	+	3	807	c.185G>A	c.(184-186)gGa>gAa	p.G62E	SLC5A11_ENST00000545376.1_Missense_Mutation_p.G62E|SLC5A11_ENST00000424767.2_Missense_Mutation_p.G62E|SLC5A11_ENST00000449109.2_5'UTR|SLC5A11_ENST00000569071.1_5'UTR|SLC5A11_ENST00000568579.1_Missense_Mutation_p.G62E|SLC5A11_ENST00000565769.1_5'UTR|SLC5A11_ENST00000567758.1_Missense_Mutation_p.G62E|SLC5A11_ENST00000539472.1_5'UTR	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	62					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TTCCTGGCTGGAGGGGACATG	0.458000													13	30					0	0	0.003163	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997202	82997202	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82997202C>T	ENST00000307792.3	-	17	2495	c.2028G>A	c.(2026-2028)gaG>gaA	p.E676E	SEMA3E_ENST00000427262.1_Silent_p.E616E	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	676					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CCTCGACTTTCTCCTCTTCCA	0.483000													12	38					0	0	0.001855	0	0
IRAK2	3656	broad.mit.edu	37	3	10255055	10255055	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:10255055G>A	ENST00000256458.4	+	5	783	c.693G>A	c.(691-693)ggG>ggA	p.G231G		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	231	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						ACAGGCACGGGAAGCCATTCG	0.557000													21	41					0	0	0.008871	0	0
BDH1	622	broad.mit.edu	37	3	197238844	197238844	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:197238844C>T	ENST00000392379.1	-	8	1355	c.954G>A	c.(952-954)atG>atA	p.M318I	BDH1_ENST00000392378.2_Missense_Mutation_p.M318I|BDH1_ENST00000358186.2_Missense_Mutation_p.M318I|BDH1_ENST00000441275.1_Missense_Mutation_p.M231I	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	318					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	AGTAGTAGTCCATGGGGTGGT	0.592000													14	90					0	0	0.001855	0	0
MYO6	4646	broad.mit.edu	37	6	76576731	76576731	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:76576731G>A	ENST00000369981.3	+	18	2132	c.1853G>A	c.(1852-1854)cGg>cAg	p.R618Q	MYO6_ENST00000369985.4_Missense_Mutation_p.R618Q|MYO6_ENST00000369977.3_Missense_Mutation_p.R618Q|MYO6_ENST00000369975.1_Missense_Mutation_p.R618Q			Q9UM54	MYO6_HUMAN	myosin VI	618	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AAGTTTATACGGGAATTATTT	0.318000													6	35					0	0	0.001168	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44268761	44268761	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:44268761C>G	ENST00000315087.7	-	4	1093	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.E114Q|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.E181Q	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	145					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CGGAAGATCTCCTGGTTGATG	0.597000													29	51					0	0	0.012213	0	0
KLF17	128209	broad.mit.edu	37	1	44595255	44595255	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:44595255G>A	ENST00000372299.3	+	2	370	c.312G>A	c.(310-312)gcG>gcA	p.A104A	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	104					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GCCCCCAAGCGACTCTCACTC	0.557000													52	73					0	0	0.014410	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213415276	213415276	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:213415276C>T	ENST00000366960.3	+	11	2607	c.2457C>T	c.(2455-2457)ttC>ttT	p.F819F	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Silent_p.F607F|RPS6KC1_ENST00000543354.1_Silent_p.F522F|RPS6KC1_ENST00000366959.3_Silent_p.F807F	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	819	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AAAGCTTATTCCGTATTTGTA	0.393000													25	51					0	0	0.006320	0	0
CDX1	1044	broad.mit.edu	37	5	149563133	149563133	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:149563133G>A	ENST00000231656.8	+	3	770	c.688G>A	c.(688-690)Gac>Aac	p.D230N		NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	caudal type homeobox 1	230						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGGCCCACGACATCACGGC	0.617000													6	17					0	0	0.004482	0	0
DCST2	127579	broad.mit.edu	37	1	155005935	155005935	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:155005935G>A	ENST00000368424.3	-	1	301	c.243C>T	c.(241-243)ctC>ctT	p.L81L	DCST2_ENST00000295536.5_Silent_p.L81L	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	81						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCAGCAGCAGGAGGACAGTGG	0.657000													20	39					0	0	0.008871	0	0
BMP4	652	broad.mit.edu	37	14	54417562	54417562	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:54417562G>A	ENST00000245451.4	-	4	808	c.415C>T	c.(415-417)Cgt>Tgt	p.R139C	BMP4_ENST00000558984.1_Missense_Mutation_p.R139C|BMP4_ENST00000559087.1_Missense_Mutation_p.R139C|BMP4_ENST00000417573.1_Missense_Mutation_p.R139C	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	139					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						AAGAGGAAACGAAAAGCAGAG	0.498000													17	22					0	0	0.007413	0	0
NOTCH3	4854	broad.mit.edu	37	19	15276216	15276216	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15276216G>A	ENST00000263388.2	-	31	5853	c.5778C>T	c.(5776-5778)atC>atT	p.I1926I		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1926					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)			CATGGCTGGCGATGAGCTCTT	0.582000													12	47					0	0	0.013537	0	0
SNURF	8926	broad.mit.edu	37	15	25207265	25207265	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:25207265C>T	ENST00000338094.6	+	2	80	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C	SNRPN_ENST00000390687.4_5'UTR|SNRPN_ENST00000400097.1_5'UTR|SNRPN_ENST00000554227.2_5'UTR|SNURF_ENST00000577949.1_Missense_Mutation_p.R7C|SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000346403.6_5'UTR|SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000400100.1_5'UTR|SNURF_ENST00000338327.4_Missense_Mutation_p.R7C	NM_003097.3|NM_005678.3	NP_003088.1|NP_005669.2			SNRPN upstream reading frame									p.R7G(1)		breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		TTTCAGGGATCGCTTACACCT	0.403000													10	25					0	0	0.008291	0	0
ACVR2A	92	broad.mit.edu	37	2	148653910	148653910	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:148653910C>T	ENST00000241416.7	+	2	732	c.96C>T	c.(94-96)ttC>ttT	p.F32F	ACVR2A_ENST00000535787.1_Intron|ACVR2A_ENST00000404590.1_Silent_p.F32F	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	32					activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		AGTGTCTTTTCTTTAATGCTA	0.343000													14	52					0	0	0.004990	0	0
ACE	1636	broad.mit.edu	37	17	61564035	61564035	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:61564035G>A	ENST00000577647.1	+	3	499	c.454G>A	c.(454-456)Gac>Aac	p.D152N	ACE_ENST00000428043.1_Missense_Mutation_p.D726N|ACE_ENST00000290866.4_Missense_Mutation_p.D726N|ACE_ENST00000413513.3_Missense_Mutation_p.D152N|ACE_ENST00000421982.2_Missense_Mutation_p.D36N|ACE_ENST00000290863.6_Missense_Mutation_p.D152N|ACE_ENST00000490216.2_Missense_Mutation_p.D152N			P12821	ACE_HUMAN	angiotensin I converting enzyme	726	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GAAGGTTCAGGACCTAGAACG	0.567000													23	11					0	0	0.004656	0	0
PDE3B	5140	broad.mit.edu	37	11	14891083	14891083	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:14891083G>A	ENST00000282096.4	+	16	3569	c.3216G>A	c.(3214-3216)tgG>tgA	p.W1072*	PDE3B_ENST00000455098.2_Nonsense_Mutation_p.W1021*	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	1072	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ACAAGATATGGAAGGAAATCG	0.383000													19	42					0	0	0.008871	0	0
SLIT3	6586	broad.mit.edu	37	5	168151456	168151456	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:168151456G>A	ENST00000519560.1	-	21	2723	c.2304C>T	c.(2302-2304)ccC>ccT	p.P768P	SLIT3_ENST00000404867.3_Silent_p.P768P|SLIT3_ENST00000332966.8_Silent_p.P768P	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	768					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACAGCTCTCTGGGCACGGCTG	0.512000													14	31					0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179466861	179466861	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179466861G>A	ENST00000589042.1	-	284	55361	c.55137C>T	c.(55135-55137)ttC>ttT	p.F18379F	TTN_ENST00000460472.2_Silent_p.F9314F|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Silent_p.F9439F|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.F15811F|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.F9506F|TTN_ENST00000591111.1_Silent_p.F16738F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16738	Fibronectin type-III 33.						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)			CAATGTCAATGAAAACTTCTG	0.378000													16	50					0	0	0.004007	0	0
PRB1	5542	broad.mit.edu	37	12	11506862	11506862	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:11506862C>T	ENST00000500254.2	-	3	212	c.175G>A	c.(175-177)Gga>Aga	p.G59R	PRB1_ENST00000545626.1_Missense_Mutation_p.G59R|PRB1_ENST00000546254.1_Missense_Mutation_p.G59R	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	242	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].					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)			GGGGGTGGTCCTTGTGGCTTT	0.597000													118	134					0	0	0.014410	0	0
UBC	7316	broad.mit.edu	37	12	125396452	125396452	+	Silent	SNP	G	G	A	rs71458872		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:125396452G>A	ENST00000536769.1	-	1	3442	c.1866C>T	c.(1864-1866)acC>acT	p.T622T	UBC_ENST00000546120.1_Silent_p.T546T|UBC_ENST00000339647.5_Silent_p.T622T|UBC_ENST00000538617.1_Silent_p.T242T			P0CG48	UBC_HUMAN	ubiquitin C	622	Ubiquitin-like 9.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CCACCTCGAGGGTGATGGTCT	0.527000													8	112					0	0	0.008291	0	0
ARHGEF37	389337	broad.mit.edu	37	5	149008485	149008485	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:149008485G>A	ENST00000333677.6	+	12	1937	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	592					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						TCTAACACCGGAGCCCAGCCC	0.612000													5	22					0	0	0.001168	0	0
TMEM37	140738	broad.mit.edu	37	2	120194518	120194518	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:120194518C>T	ENST00000306406.4	+	2	110	c.75C>T	c.(73-75)ttC>ttT	p.F25F	TMEM37_ENST00000409826.1_Silent_p.F37F|TMEM37_ENST00000465296.1_3'UTR	NM_183240.2	NP_899063.2	Q8WXS4	CCGL_HUMAN	transmembrane protein 37	25						integral to membrane	calcium channel activity|voltage-gated ion channel activity	p.F25F(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						TTGAATCCTTCATCCGGACCC	0.617000													22	45					0	0	0.014323	0	0
TCF23	150921	broad.mit.edu	37	2	27373152	27373152	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:27373152C>T	ENST00000296096.5	+	2	514	c.384C>T	c.(382-384)ctC>ctT	p.L128L		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	128	Helix-loop-helix motif.				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGCCCACCTCACCCGCACAC	0.657000													29	138					0	0	0.008361	0	0
DSC1	1823	broad.mit.edu	37	18	28710797	28710797	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:28710797G>A	ENST00000257197.3	-	16	2753	c.2492C>T	c.(2491-2493)tCc>tTc	p.S831F	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Intron	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	0					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TCCTCTAATGGATTCCTATAT	0.249000													7	34					0	0	0.001984	0	0
CD2	914	broad.mit.edu	37	1	117307147	117307147	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:117307147G>A	ENST00000369478.3	+	4	763	c.655G>A	c.(655-657)Gga>Aga	p.G219R		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	219					blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CATATGTGGAGGAGGCAGCCT	0.493000													24	39					0	0	0.008361	0	0
MROH9	80133	broad.mit.edu	37	1	170964596	170964596	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:170964596C>T	ENST00000367759.4	+	13	1415	c.1261C>T	c.(1261-1263)Ccc>Tcc	p.P421S	MROH9_ENST00000367758.3_Missense_Mutation_p.P421S	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9									p.P421S(2)									CCAGTATTTCCCCCAGCTCTT	0.473000													28	52					0	0	0.008361	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485152	97485152	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:97485152C>T	ENST00000376705.2	+	2	1140	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	372						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					ACCTCAAGTTCATCTCCCCCT	0.493000													4	50					0	0	0.000602	0	0
SYT16	83851	broad.mit.edu	37	14	62551016	62551016	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:62551016C>T	ENST00000430451.2	+	5	1734	c.1537C>T	c.(1537-1539)Ctc>Ttc	p.L513F		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	513	C2 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GTTGGTGGGGCTCTCGTACAA	0.552000													12	63					0	0	0.013537	0	0
OR10C1	442194	broad.mit.edu	37	6	29408389	29408389	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:29408389C>T	ENST00000444197.2	+	1	1307	c.597C>T	c.(595-597)atC>atT	p.I199I	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGCAGATTATCCTGGCAACAG	0.577000													48	109					0	0	0.014410	0	0
SLIT3	6586	broad.mit.edu	37	5	168678442	168678442	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:168678442G>A	ENST00000519560.1	-	2	638	c.219C>T	c.(217-219)atC>atT	p.I73I	SLIT3_ENST00000404867.3_Silent_p.I73I|SLIT3_ENST00000521130.1_5'UTR|SLIT3_ENST00000332966.8_Silent_p.I73I	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	73					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGATCCTGGTGATATTATTTC	0.438000													10	51					0	0	0.010729	0	0
DOCK4	9732	broad.mit.edu	37	7	111379197	111379197	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:111379197G>A	ENST00000428084.1	-	49	5497	c.5225C>T	c.(5224-5226)cCt>cTt	p.P1742L	DOCK4_ENST00000494651.2_Missense_Mutation_p.P616L|DOCK4_ENST00000437633.1_Missense_Mutation_p.P1733L			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1733	Ser-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TACCTGCGAAGGCTCCACAGG	0.468000													27	46					0	0	0.008361	0	0
NRXN2	9379	broad.mit.edu	37	11	64374929	64374929	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:64374929C>T	ENST00000265459.6	-	23	5339	c.4878G>A	c.(4876-4878)gtG>gtA	p.V1626V	NRXN2_ENST00000377559.3_Silent_p.V1556V|NRXN2_ENST00000377551.1_Silent_p.V1626V|NRXN2_ENST00000409571.1_Silent_p.V1619V|NRXN2_ENST00000301894.2_Silent_p.V580V	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1626					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GGATCACCTCCACTGCGCCCG	0.711000													8	29					0	0	0.006214	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053780	95053780	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:95053780G>A	ENST00000329597.7	+	3	291	c.81G>A	c.(79-81)atG>atA	p.M27I	SERPINA5_ENST00000554276.1_Missense_Mutation_p.M27I|SERPINA5_ENST00000554866.1_Missense_Mutation_p.M27I|SERPINA5_ENST00000553780.1_Missense_Mutation_p.M27I	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	27					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	p.M27I(1)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CCCGGGAGATGAAGAAGAGAG	0.612000													29	42					0	0	0.007291	0	0
ZNF609	23060	broad.mit.edu	37	15	64967027	64967027	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:64967027C>T	ENST00000326648.3	+	4	2102	c.1974C>T	c.(1972-1974)ccC>ccT	p.P658P		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	658						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGCCCGTCCCATTGCCCCTG	0.488000													11	39					0	0	0.013537	0	0
MSR1	4481	broad.mit.edu	37	8	16021701	16021701	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:16021701T>A	ENST00000350896.3	-	5	887	c.690A>T	c.(688-690)aaA>aaT	p.K230N	MSR1_ENST00000262101.5_Missense_Mutation_p.K230N|MSR1_ENST00000445506.2_Missense_Mutation_p.K248N|MSR1_ENST00000536385.1_Missense_Mutation_p.K4N|MSR1_ENST00000355282.2_Missense_Mutation_p.K230N|MSR1_ENST00000381998.4_Missense_Mutation_p.K230N	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	230					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTTGTTCTTCTTTCATAGCCA	0.353000													11	28					0	0	0.010729	0	0
GTF2A1	2957	broad.mit.edu	37	14	81658868	81658868	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:81658868C>T	ENST00000553612.1	-	7	1331	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	GTF2A1_ENST00000434192.2_Missense_Mutation_p.E271K	NM_015859.3	NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	310					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		CTTActtcttccacctgccca	0.343000													11	97					0	0	0.010729	0	0
SYT6	148281	broad.mit.edu	37	1	114640423	114640423	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:114640423C>T	ENST00000393296.1	-	6	1518	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K	SYT6_ENST00000369547.1_Missense_Mutation_p.E396K			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	481					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	p.E396K(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCAGCATCTCGTTCCAGTGG	0.572000													28	46					0	0	0.009535	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60017110	60017110	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:60017110G>A	ENST00000586569.1	+	3	261	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.E75K	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	75					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TGGCCCGGATGAATACTTGGA	0.428000													28	87					0	0	0.006320	0	0
SYNE2	23224	broad.mit.edu	37	14	64683061	64683061	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:64683061C>T	ENST00000357395.3	+	108	19728	c.8584C>T	c.(8584-8586)Cca>Tca	p.P2862S	SYNE2_ENST00000554805.1_Missense_Mutation_p.P260S|SYNE2_ENST00000344113.4_Missense_Mutation_p.P6477S|SYNE2_ENST00000555002.1_Missense_Mutation_p.P3134S|SYNE2_ENST00000555022.1_Missense_Mutation_p.P355S|SYNE2_ENST00000458046.2_Missense_Mutation_p.P134S|SYNE2_ENST00000394768.2_Missense_Mutation_p.P2862S|SYNE2_ENST00000441438.2_Missense_Mutation_p.P8S|SYNE2_ENST00000358025.3_Missense_Mutation_p.P6500S|SYNE2_ENST00000554584.1_Missense_Mutation_p.P6419S|ESR2_ENST00000542956.1_Intron			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6477					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGGAATGTTCCACCTGTTCC	0.493000													11	52					0	0	0.013537	0	0
S1PR1	1901	broad.mit.edu	37	1	101705422	101705422	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:101705422G>A	ENST00000305352.6	+	2	1257	c.882G>A	c.(880-882)gaG>gaA	p.E294E		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	294					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TCAGAGCGGAGTACTTCCTGG	0.562000													68	158					0	0	0.014410	0	0
TMEM215	401498	broad.mit.edu	37	9	32784491	32784491	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:32784491G>A	ENST00000342743.5	+	2	675	c.310G>A	c.(310-312)Ggc>Agc	p.G104S		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	104						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CCTAGAATCCGGCAAGGGGAG	0.602000													17	34					0	0	0.006122	0	0
MYLK2	85366	broad.mit.edu	37	20	30419644	30419644	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:30419644C>T	ENST00000375994.2	+	10	1836	c.1563C>T	c.(1561-1563)atC>atT	p.I521I	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Silent_p.I521I			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	521	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCAACCTCATCGTCAAGGACC	0.532000													21	33					0	0	0.014323	0	0
LAMA1	284217	broad.mit.edu	37	18	7044747	7044747	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:7044747G>A	ENST00000389658.3	-	7	1043	c.950C>T	c.(949-951)aCc>aTc	p.T317I		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	317	Laminin EGF-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGAGGACACGGTTCCCGGCCT	0.473000													22	60					0	0	0.003330	0	0
ADD2	119	broad.mit.edu	37	2	70901819	70901819	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:70901819C>T	ENST00000264436.3	-	14	2176	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K	ADD2_ENST00000407644.2_Missense_Mutation_p.E578K|ADD2_ENST00000355733.3_Missense_Mutation_p.E578K	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	578					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CCATCAAGTTCTAGTTTCTTC	0.542000													11	51					0	0	0.013537	0	0
LRRC32	2615	broad.mit.edu	37	11	76370955	76370955	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:76370955G>A	ENST00000407242.2	-	3	1924	c.1682C>T	c.(1681-1683)aCc>aTc	p.T561I	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.T561I|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.T561I	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	561						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CCGGAGGCTGGTCTCCAGGCC	0.667000													18	20					0	0	0.004990	0	0
ZNF208	7757	broad.mit.edu	37	19	22154154	22154154	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:22154154C>T	ENST00000397126.4	-	4	3830	c.3682G>A	c.(3682-3684)Gaa>Aaa	p.E1228K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCACATTCTTCACATTTGTAG	0.393000													7	32					0	0	0.003080	0	0
CLCA1	1179	broad.mit.edu	37	1	86957012	86957012	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:86957012C>T	ENST00000234701.3	+	10	1773	c.1422C>T	c.(1420-1422)gcC>gcT	p.A474A	CLCA1_ENST00000394711.1_Silent_p.A474A			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	474	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CTTTTGGGGCCCTTTCATCAG	0.388000													22	47					0	0	0.014323	0	0
NCR2	9436	broad.mit.edu	37	6	41318520	41318520	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:41318520C>T	ENST00000373089.5	+	5	837	c.749C>T	c.(748-750)tCc>tTc	p.S250F	NCR2_ENST00000373086.3_3'UTR|NCR2_ENST00000373083.4_3'UTR	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	250					cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					acctcagtttcctcacctgta	0.433000													12	22					0	0	0.010729	0	0
DAB2	1601	broad.mit.edu	37	5	39390557	39390557	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:39390557T>A	ENST00000545653.1	-	5	981	c.451A>T	c.(451-453)Acc>Tcc	p.T151S	DAB2_ENST00000509337.1_Missense_Mutation_p.T151S|DAB2_ENST00000512525.1_5'UTR|DAB2_ENST00000320816.6_Missense_Mutation_p.T151S|DAB2_ENST00000339788.6_Missense_Mutation_p.T151S	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	151	PID.				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TGTTGCCCGGTTTTTATGGCA	0.448000													17	51					0	0	0.008871	0	0
LAMA2	3908	broad.mit.edu	37	6	129722412	129722412	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:129722412A>G	ENST00000421865.2	+	38	5538	c.5489A>G	c.(5488-5490)aAc>aGc	p.N1830S		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1830	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)		CAAATTGAGAACACTTTAAAA	0.388000													22	56					0	0	0.004656	0	0
CLEC16A	23274	broad.mit.edu	37	16	11272318	11272318	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:11272318G>A	ENST00000409790.1	+	24	3163	c.2933G>A	c.(2932-2934)aGc>aAc	p.S978N	CLEC16A_ENST00000381822.2_Missense_Mutation_p.S65N	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	978								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GAGACAGCCAGCCTGTCCCCC	0.627000													10	51					0	0	0.006214	0	0
CLINT1	9685	broad.mit.edu	37	5	157216574	157216574	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:157216574G>A	ENST00000523094.1	-	11	1533	c.1326_splice	c.e11-1	p.P443_splice	CLINT1_ENST00000296951.5_Splice_Site_p.P443_splice|CLINT1_ENST00000523908.1_Splice_Site_p.P461_splice|CLINT1_ENST00000530742.1_Splice_Site_p.P443_splice|CLINT1_ENST00000411809.2_Intron	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	459					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATTTTGCAAAGGCTGGAAAAT	0.343000													11	21					0	0	0.008291	0	0
LPA	4018	broad.mit.edu	37	6	161007585	161007585	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:161007585C>T	ENST00000447678.1	-	26	4145	c.4025G>A	c.(4024-4026)aGa>aAa	p.R1342K	LPA_ENST00000316300.5_Missense_Mutation_p.R1342K	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3850	Kringle 12.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTACTCCCATCTGACACTGGG	0.502000													20	48					0	0	0.008871	0	0
PSG9	5678	broad.mit.edu	37	19	43762487	43762487	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:43762487C>T	ENST00000244293.7	-	4	897	c.831G>A	c.(829-831)ggG>ggA	p.G277G	PSG9_ENST00000443718.3_Silent_p.G277G|PSG9_ENST00000270077.3_Silent_p.G370G|PSG9_ENST00000593948.1_Silent_p.G277G|PSG9_ENST00000418820.2_Silent_p.G277G|PSG9_ENST00000291752.5_Silent_p.G184G|PSG9_ENST00000596730.1_Silent_p.G184G			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	277	Ig-like C2-type 2.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GCTGAAACTTCCCATTAATTG	0.443000													70	145					0	0	0.014410	0	0
IL10RA	3587	broad.mit.edu	37	11	117870289	117870289	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:117870289T>A	ENST00000227752.3	+	7	1790	c.1670T>A	c.(1669-1671)cTc>cAc	p.L557H	IL10RA_ENST00000545409.1_Missense_Mutation_p.L408H|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.L537H	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	557						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CCAGGTGGTCTCCTGGGCAGC	0.572000													31	19					0	0	0.012213	0	0
SLC7A9	11136	broad.mit.edu	37	19	33353099	33353099	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:33353099G>T	ENST00000023064.4	-	6	820	c.629C>A	c.(628-630)tCt>tAt	p.S210Y	SLC7A9_ENST00000590341.1_Missense_Mutation_p.S210Y|SLC7A9_ENST00000587772.1_Missense_Mutation_p.S210Y	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	210					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GCCCTCGAAAGAATTATCAAA	0.527000													22	47					6.21321e-17	6.81844e-17	0.002780	1	0
RFX7	64864	broad.mit.edu	37	15	56390286	56390286	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:56390286G>A	ENST00000423270.1	-	8	1099	c.1100C>T	c.(1099-1101)cCc>cTc	p.P367L	RFX7_ENST00000559447.2_Missense_Mutation_p.P270L|RFX7_ENST00000422057.1_Missense_Mutation_p.P270L|RFX7_ENST00000317318.6_Missense_Mutation_p.P367L	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	270					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TACCGGAATGGGACTAGGGAC	0.398000													8	21					0	0	0.004482	0	0
FBLN5	10516	broad.mit.edu	37	14	92343975	92343975	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:92343975G>A	ENST00000267620.10	-	11	1333	c.1164C>T	c.(1162-1164)acC>acT	p.T388T	FBLN5_ENST00000556154.1_Silent_p.T352T|FBLN5_ENST00000342058.4_Silent_p.T347T			Q9UBX5	FBLN5_HUMAN	fibulin 5	347					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				GGTACAAGATGGTAAAGGGCT	0.547000													33	22					0	0	0.004289	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50513589	50513589	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:50513589C>T	ENST00000435965.1	-	2	421	c.248G>A	c.(247-249)gGc>gAc	p.G83D	CACNA2D2_ENST00000423994.2_Missense_Mutation_p.G83D|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.G83D|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.G83D|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.G83D|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.G83D|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.G14D|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.G83D|CACNA2D2_ENST00000487413.1_5'UTR			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	83					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.G83D(1)		breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CCGCATCACGCCGTCGACCTC	0.632000													5	10					0	0	0.001168	0	0
SLC16A7	9194	broad.mit.edu	37	12	60173326	60173326	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:60173326G>A	ENST00000261187.4	+	5	1467	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	SLC16A7_ENST00000547379.1_Missense_Mutation_p.E435K|SLC16A7_ENST00000543448.1_Missense_Mutation_p.E336K|SLC16A7_ENST00000552432.1_Missense_Mutation_p.E435K|SLC16A7_ENST00000552024.1_Missense_Mutation_p.E435K	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	435						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	GCTTGCAAAGGAAAGGAAGGA	0.418000													3	12					0	0	0.004672	0	0
ART5	116969	broad.mit.edu	37	11	3661515	3661515	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:3661515C>T	ENST00000397068.3	-	2	536	c.144G>A	c.(142-144)gaG>gaA	p.E48E	ART5_ENST00000397067.3_Silent_p.E48E|ART5_ENST00000359918.4_Silent_p.E48E	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	48						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGCTGCCTTCTCCTCCATCT	0.627000													13	38					0	0	0.001855	0	0
SERPINI2	5276	broad.mit.edu	37	3	167183119	167183119	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:167183119G>A	ENST00000476257.1	-	6	1039	c.741C>T	c.(739-741)agC>agT	p.S247S	SERPINI2_ENST00000264677.4_Silent_p.S247S|SERPINI2_ENST00000461846.1_Silent_p.S247S|SERPINI2_ENST00000471111.1_Silent_p.S247S			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	247					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TGATAATTAAGCTAAATTCAT	0.318000													29	61					0	0	0.008361	0	0
LOC102546299	102546299	broad.mit.edu	37	5	164028204	164028204	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:164028204C>T	ENST00000486913.3	+	0	382				CTC-340A15.2_ENST00000522303.1_RNA|CTC-340A15.2_ENST00000519570.1_RNA|CTC-340A15.2_ENST00000523704.1_RNA|CTC-340A15.2_ENST00000522646.1_RNA|CTC-340A15.2_ENST00000517508.1_RNA																							GATCATATCCCGCAGGTGCGT	0.587000													3	3					0	0	0.009096	0	0
SNHG14	104472715	broad.mit.edu	37	15	25434596	25434596	+	RNA	SNP	G	G	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:25434596G>C	ENST00000424208.1	+	0	937				SNHG14_ENST00000414175.1_RNA|SNORD115-11_ENST00000363616.1_RNA	NR_003305.1																						GTCCTGAAGAGAGGTGATGAC	0.527000													56	172					0	0	0.014410	0	0
SAMD4B	55095	broad.mit.edu	37	19	39866355	39866355	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:39866355C>T	ENST00000314471.6	+	7	1768	c.733C>T	c.(733-735)Cag>Tag	p.Q245*	SAMD4B_ENST00000596368.1_Nonsense_Mutation_p.Q245*|SAMD4B_ENST00000598913.1_Nonsense_Mutation_p.Q245*	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	245							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TACAAGCCCCCAGGTCCCTGG	0.617000													57	132					0	0	0.014410	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517231	158517231	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158517231G>A	ENST00000302617.3	-	1	664	c.665C>T	c.(664-666)tCc>tTc	p.S222F		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGCAGCGTAGGATGCCACCAC	0.547000													24	44					0	0	0.014323	0	0
BRD4	23476	broad.mit.edu	37	19	15350023	15350023	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15350023G>A	ENST00000263377.2	-	18	3850	c.3629C>T	c.(3628-3630)cCg>cTg	p.P1210L		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1210					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGGGGTGGTCGGATGCTTCTG	0.607000			T	C15orf55	lethal midline carcinoma of young people								9	30					0	0	0.010729	0	0
CRIP3	401262	broad.mit.edu	37	6	43273742	43273742	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:43273742C>T	ENST00000274990.4	-	7	620	c.616G>A	c.(616-618)Ggt>Agt	p.G206S	CRIP3_ENST00000372569.3_Intron			Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	206						cytoplasm	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			ACCCACAGACCATGTACATGC	0.592000													21	32					0	0	0.010504	0	0
SLC35C2	51006	broad.mit.edu	37	20	44980833	44980833	+	Missense_Mutation	SNP	G	G	A	rs138124634	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:44980833G>A	ENST00000372227.1	-	8	1234	c.694C>T	c.(694-696)Cgt>Tgt	p.R232C	SLC35C2_ENST00000372229.1_Missense_Mutation_p.R99C|SLC35C2_ENST00000317734.8_Missense_Mutation_p.R211C|SLC35C2_ENST00000243896.2_Missense_Mutation_p.R232C|SLC35C2_ENST00000372230.5_Missense_Mutation_p.R232C|SLC35C2_ENST00000493599.1_5'UTR|SLC35C2_ENST00000543605.1_Missense_Mutation_p.R261C			Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	232					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				TCCTGGAAACGGAAGATTTTC	0.582000													18	66					0	0	0.008871	0	0
PML	5371	broad.mit.edu	37	15	74326924	74326924	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:74326924C>T	ENST00000435786.2	+	7	1832	c.1763C>T	c.(1762-1764)tCc>tTc	p.S588F	PML_ENST00000359928.4_Intron|PML_ENST00000354026.6_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000268059.6_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000569477.1_Intron|PML_ENST00000436891.3_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000395132.2_Intron	NM_033240.2	NP_150243.2	P29590	PML_HUMAN	promyelocytic leukemia	587					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CATTTCAGGTCCCAGGGGGCA	0.592000			T	"""RARA, PAX5"""	"""APL, ALL"""								9	20					0	0	0.004482	0	0
PTPRK	5796	broad.mit.edu	37	6	128312003	128312003	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:128312003C>T	ENST00000368227.3	-	22	3424	c.3058G>A	c.(3058-3060)Gat>Aat	p.D1020N	PTPRK_ENST00000368210.3_Missense_Mutation_p.D1021N|PTPRK_ENST00000368226.4_Missense_Mutation_p.D1003N|PTPRK_ENST00000532331.1_Missense_Mutation_p.D1025N|PTPRK_ENST00000368215.3_Missense_Mutation_p.D1002N|PTPRK_ENST00000368213.5_Missense_Mutation_p.D1009N|PTPRK_ENST00000368207.3_Missense_Mutation_p.D1035N			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1002	Tyrosine-protein phosphatase 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ACTTCAGTATCATCAGGCCAA	0.348000													6	80					0	0	0.003080	0	0
DIO3	1735	broad.mit.edu	37	14	102028019	102028019	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:102028019C>T	ENST00000510508.4	+	1	332	c.186C>T	c.(184-186)ctC>ctT	p.L62L	DIO3_ENST00000359323.3_Silent_p.L36L			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	36					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TCTGGCTTCTCGATTTCTTGT	0.662000													10	38					0	0	0.010729	0	0
RGS7	6000	broad.mit.edu	37	1	240939511	240939511	+	Silent	SNP	C	C	T	rs114705999	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:240939511C>T	ENST00000366565.1	-	18	1797	c.1416G>A	c.(1414-1416)ggG>ggA	p.G472G	RGS7_ENST00000366562.4_Silent_p.G454G|RGS7_ENST00000348120.2_3'UTR|RGS7_ENST00000366564.1_Silent_p.G454G|RGS7_ENST00000446183.2_3'UTR|RGS7_ENST00000331110.7_Intron|RGS7_ENST00000366563.1_3'UTR	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	472					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	p.G472G(1)		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)			TGAGAGATTTCCCCTGAGAAA	0.383000													5	51					0	0	0.000602	0	0
AMOTL2	51421	broad.mit.edu	37	3	134089733	134089733	+	Silent	SNP	G	G	A	rs139339298		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:134089733G>A	ENST00000514516.1	-	2	895	c.717C>T	c.(715-717)tcC>tcT	p.S239S	AMOTL2_ENST00000513145.1_Silent_p.S181S|AMOTL2_ENST00000511759.1_Intron|AMOTL2_ENST00000249883.5_Silent_p.S181S|AMOTL2_ENST00000422605.2_Silent_p.S181S	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	181										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GGAAGCTGTGGGAGGAGCTCA	0.697000													11	22					0	0	0.008291	0	0
EPHB6	2051	broad.mit.edu	37	7	142566827	142566827	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142566827C>T	ENST00000392957.2	+	16	3171	c.2384C>T	c.(2383-2385)tCg>tTg	p.S795L	EPHB6_ENST00000442129.1_Missense_Mutation_p.S795L|EPHB6_ENST00000411471.2_Missense_Mutation_p.S518L	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	795	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GTCCATCGCTCGCTGTCTGCC	0.637000													11	38					0	0	0.010729	0	0
OR2M5	127059	broad.mit.edu	37	1	248308994	248308994	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248308994C>T	ENST00000366476.1	+	1	545	c.545C>T	c.(544-546)cCt>cTt	p.P182L		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			TGTGACTTCCCTTCCCTACTA	0.418000													63	152					0	0	0.014410	0	0
ADAM22	53616	broad.mit.edu	37	7	87774472	87774472	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:87774472C>T	ENST00000398204.4	+	16	1676	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F	ADAM22_ENST00000398201.4_Silent_p.F451F|ADAM22_ENST00000315984.7_Silent_p.F451F|ADAM22_ENST00000398209.3_Silent_p.F451F|ADAM22_ENST00000265727.7_Silent_p.F451F	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	451	Disintegrin.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GCAATGGCTTCATTGAAACTG	0.413000													19	27					0	0	0.003330	0	0
MED12L	116931	broad.mit.edu	37	3	151127083	151127083	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:151127083C>T	ENST00000474524.1	+	38	5806	c.5768C>T	c.(5767-5769)cCt>cTt	p.P1923L	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1923	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGGCCCTCCCCTCAGCTCCCT	0.532000													22	69					0	0	0.003330	0	0
RGS22	26166	broad.mit.edu	37	8	101014554	101014554	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:101014554C>T	ENST00000360863.6	-	18	2860	c.2666G>A	c.(2665-2667)cGg>cAg	p.R889Q	RGS22_ENST00000523437.1_Missense_Mutation_p.R877Q|RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523287.1_Missense_Mutation_p.R708Q	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	889	RGS 1.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGTTATTCTCCGGAACTGCTC	0.318000													7	28					0	0	0.001984	0	0
GTF2F1	2962	broad.mit.edu	37	19	6387513	6387513	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:6387513G>A	ENST00000394456.5	-	5	848	c.384C>T	c.(382-384)acC>acT	p.T128T	CTB-180A7.6_ENST00000599584.1_RNA|GTF2F1_ENST00000429701.2_Intron	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	128					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						CGGGGCACTGGGTGAAGATGT	0.632000													25	40					0	0	0.003954	0	0
RBBP6	5930	broad.mit.edu	37	16	24573481	24573481	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:24573481C>T	ENST00000319715.4	+	10	1720	c.1289_splice	c.e10+1	p.R430_splice	RBBP6_ENST00000381039.3_Splice_Site_p.R430_splice|RBBP6_ENST00000348022.2_Splice_Site_p.R430_splice	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	430					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TGGACCTTTTCGGTAAGCCTG	0.403000													22	46					0	0	0.003330	0	0
SOS1	6654	broad.mit.edu	37	2	39222477	39222477	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:39222477G>A	ENST00000426016.1	-	21	3219	c.3133C>T	c.(3133-3135)Cca>Tca	p.P1045S	SOS1_ENST00000402219.2_Missense_Mutation_p.P1045S|SOS1_ENST00000395038.2_Missense_Mutation_p.P1045S			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1045					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CCTGGTCTTGGGTTTGATGGA	0.408000									Noonan syndrome				29	55					0	0	0.010818	0	0
OR10H5	284433	broad.mit.edu	37	19	15905669	15905669	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15905669G>T	ENST00000308940.8	+	1	909	c.811G>T	c.(811-813)Gga>Tga	p.G271*		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						GTCTCCGGAAGGAGACACCTT	0.567000													11	22					1.61879e-10	1.77066e-10	0.013537	1	0
GJA8	2703	broad.mit.edu	37	1	147381356	147381356	+	Missense_Mutation	SNP	G	G	A	rs150041151		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:147381356G>A	ENST00000240986.4	+	2	1327	c.1274G>A	c.(1273-1275)cGa>cAa	p.R425Q	GJA8_ENST00000369235.1_Missense_Mutation_p.R425Q	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	425					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	p.R425Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GCCAGCAGCCGAGCCAGGTCA	0.502000													13	23					0	0	0.003163	0	0
GORASP2	26003	broad.mit.edu	37	2	171822366	171822366	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:171822366C>T	ENST00000234160.4	+	10	1900	c.1085C>T	c.(1084-1086)tCc>tTc	p.S362F	GORASP2_ENST00000493692.1_3'UTR|GORASP2_ENST00000452526.2_Missense_Mutation_p.S374F	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	362	Pro-rich.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						CCCCTGCCATCCGAGTTCCTC	0.582000													24	38					0	0	0.005443	0	0
PLCH1	23007	broad.mit.edu	37	3	155200306	155200306	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:155200306G>A	ENST00000460012.1	-	23	3776	c.3419C>T	c.(3418-3420)tCc>tTc	p.S1140F	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Missense_Mutation_p.S1178F|PLCH1_ENST00000414191.1_Missense_Mutation_p.S1140F|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.S1140F			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1178					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AATAAGATGGGAAATTACACT	0.463000													11	31					0	0	0.013537	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808905	18808905	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:18808905G>A	ENST00000400664.1	+	1	1482	c.1430G>A	c.(1429-1431)gGg>gAg	p.G477E		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	477						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCTGAGCGGGGCAGAGCGC	0.667000													29	67					0	0	0.006320	0	0
MAP7	9053	broad.mit.edu	37	6	136742909	136742909	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:136742909C>T	ENST00000354570.3	-	2	506	c.96G>A	c.(94-96)aaG>aaA	p.K32K	MAP7_ENST00000544465.1_Silent_p.K17K|MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000438100.2_Silent_p.K54K|MAP7_ENST00000454590.1_Silent_p.K54K	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	32					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AGGCATTTTTCTTATCTTGCA	0.378000													10	86					0	0	0.010729	0	0
OR7D4	125958	broad.mit.edu	37	19	9325025	9325025	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9325025C>T	ENST00000308682.2	-	1	517	c.489G>A	c.(487-489)atG>atA	p.M163I		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TCAACCTCTTCATCAGTAGAA	0.507000													26	38					0	0	0.003330	0	0
MRGPRD	116512	broad.mit.edu	37	11	68748292	68748292	+	Missense_Mutation	SNP	C	C	T	rs138059734	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:68748292C>T	ENST00000309106.3	-	1	163	c.164G>A	c.(163-165)cGa>cAa	p.R55Q		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	55						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCTGTGCATTCGAAAGCCCAG	0.597000													23	33					0	0	0.014323	0	0
SETD1A	9739	broad.mit.edu	37	16	30970485	30970485	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:30970485C>T	ENST00000262519.8	+	3	910	c.224C>T	c.(223-225)tCc>tTc	p.S75F		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AGAGACTTTTCCCTCCCAGTC	0.493000													29	60					0	0	0.009535	0	0
ROBO2	6092	broad.mit.edu	37	3	77666843	77666843	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:77666843G>T	ENST00000461745.1	+	22	4373	c.3473G>T	c.(3472-3474)cGg>cTg	p.R1158L	ROBO2_ENST00000487694.3_Missense_Mutation_p.R1174L|ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Missense_Mutation_p.R1158L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1158					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCATCCCCACGGGAAGAGATG	0.478000													18	57					2.54575e-18	2.79475e-18	0.010504	1	0
TRBV10-2	28584	broad.mit.edu	37	7	142206977	142206977	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142206977G>A	ENST00000426318.2	-	0	34																											TCCAGGGCAGGATCTTGTGTC	0.552000													6	43					0	0	0.003080	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106558318	106558318	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:106558318G>A	ENST00000526355.1	-	8	2624	c.2156C>T	c.(2155-2157)tCc>tTc	p.S719F	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.S750F|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.S740F	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	719					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GATGTTGTAGGAAACCTTTTT	0.483000													45	64					0	0	0.014410	0	0
REC8	9985	broad.mit.edu	37	14	24646965	24646965	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:24646965G>A	ENST00000311457.3	+	12	1460		c.e12+1		REC8_ENST00000559919.1_Splice_Site			O95072	REC8_HUMAN	REC8 meiotic recombination protein						mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CAGCCCAGAGGTGAGTAGCCT	0.637000													5	13					0	0	0.000602	0	0
MMEL1	79258	broad.mit.edu	37	1	2523021	2523021	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:2523021C>T	ENST00000288709.6	-	23	2428	c.2188G>A	c.(2188-2190)Gac>Aac	p.D730N	MMEL1_ENST00000502556.1_Missense_Mutation_p.D582N|MMEL1_ENST00000378412.3_Missense_Mutation_p.D739N	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	739					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CTGTGGACGTCTGTCTTGATG	0.627000													46	107					0	0	0.014410	0	0
ZNF638	27332	broad.mit.edu	37	2	71650425	71650425	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:71650425G>A	ENST00000409544.1	+	22	4411	c.3781G>A	c.(3781-3783)Gct>Act	p.A1261T	ZNF638_ENST00000409407.1_Missense_Mutation_p.A201T|ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000264447.4_Missense_Mutation_p.A1261T	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1261	Glu-rich.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TATGGTAGAAGCTGTAGCTGA	0.393000													11	38					0	0	0.001855	0	0
TNXB	7148	broad.mit.edu	37	6	32017111	32017111	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:32017111C>T	ENST00000375244.3	-	28	9894	c.9693G>A	c.(9691-9693)aaG>aaA	p.K3231K	TNXB_ENST00000375247.2_Silent_p.K3229K			P22105	TENX_HUMAN	tenascin XB	3276	Fibronectin type-III 24.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACAGATGCATCTTGTATTTGC	0.682000													66	175					0	0	0.014410	0	0
STXBP5L	9515	broad.mit.edu	37	3	121126146	121126146	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:121126146G>A	ENST00000273666.6	+	24	2987	c.2716G>A	c.(2716-2718)Ggt>Agt	p.G906S	STXBP5L_ENST00000471454.1_Missense_Mutation_p.G882S|STXBP5L_ENST00000492541.1_Missense_Mutation_p.G906S|STXBP5L_ENST00000497029.1_Missense_Mutation_p.G880S|STXBP5L_ENST00000472879.1_Missense_Mutation_p.G882S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	906					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GGACCGAATGGGTGGATTAAT	0.383000													14	26					0	0	0.001855	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110456968	110456968	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:110456968C>T	ENST00000260283.4	-	13	1671	c.1387G>A	c.(1387-1389)Gat>Aat	p.D463N	ARHGAP20_ENST00000357139.3_Missense_Mutation_p.D437N|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.D427N|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.D437N|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.D440N|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.D6N|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.D427N	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	463	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TTCTCTTCATCATTTCCTTGA	0.259000													13	63					0	0	0.004007	0	0
FCRL5	83416	broad.mit.edu	37	1	157514687	157514687	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:157514687G>A	ENST00000361835.3	-	4	650	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	FCRL5_ENST00000368190.3_Missense_Mutation_p.R165C|FCRL5_ENST00000368191.3_Missense_Mutation_p.R80C|FCRL5_ENST00000368189.3_Missense_Mutation_p.R165C|FCRL5_ENST00000356953.4_Missense_Mutation_p.R165C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	165						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CCAGTACAGCGATATGCACCA	0.368000													14	83					0	0	0.002450	0	0
OPN1MW2	728458	broad.mit.edu	37	X	153490621	153490621	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:153490621C>T	ENST00000369929.4	+	2	417	c.357C>T	c.(355-357)ttC>ttT	p.F119F	OPN1MW2_ENST00000488220.1_3'UTR	NM_001048181.2	NP_001041646.1			opsin 1 (cone pigments), medium-wave-sensitive 2											haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATGGCTACTTCGTGCTGGGCC	0.607000													36	53					0	0	0.014410	0	0
TTLL4	9654	broad.mit.edu	37	2	219612839	219612839	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:219612839C>T	ENST00000392102.1	+	12	2730	c.2390C>T	c.(2389-2391)tCc>tTc	p.S797F	TTLL4_ENST00000258398.4_Missense_Mutation_p.S797F|TTLL4_ENST00000457313.1_Missense_Mutation_p.S632F|TTLL4_ENST00000442769.1_Missense_Mutation_p.S733F	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	797	TTL.				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TATTCGCCTTCCATGAAGAGC	0.468000													21	44					0	0	0.012319	0	0
ERC2	26059	broad.mit.edu	37	3	56330340	56330340	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:56330340C>T	ENST00000288221.6	-	3	1036	c.781G>A	c.(781-783)Gag>Aag	p.E261K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	261						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CTAAAGTTCTCCTCGGTCAGC	0.542000													64	152					0	0	0.014410	0	0
CCDC170	80129	broad.mit.edu	37	6	151865706	151865706	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:151865706G>A	ENST00000367290.5	+	4	532		c.e4-1		CCDC170_ENST00000239374.7_Splice_Site|CCDC170_ENST00000544131.1_Splice_Site			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170																		TTGCCTAACAGAAAGTGTTCA	0.348000													3	13					0	0	0.004672	0	0
CD6	923	broad.mit.edu	37	11	60777153	60777153	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:60777153G>A	ENST00000313421.7	+	5	1077	c.891G>A	c.(889-891)tcG>tcA	p.S297S	CD6_ENST00000344028.5_Silent_p.S297S|CD6_ENST00000452451.2_Silent_p.S297S|CD6_ENST00000352009.5_Silent_p.S297S|CD6_ENST00000346437.4_Silent_p.S297S|CD6_ENST00000545105.1_Intron	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	297	SRCR 3.				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GGTACCCATCGGAGGCCAAGG	0.637000													15	36					0	0	0.002450	0	0
WDR3	10885	broad.mit.edu	37	1	118497970	118497970	+	Silent	SNP	G	G	A	rs148919618		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:118497970G>A	ENST00000349139.4	+	24	2489	c.2442G>A	c.(2440-2442)ggG>ggA	p.G814G	SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	814						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTTTTAAAGGGATCAAGTCGA	0.333000													9	33					0	0	0.008291	0	0
ITGA2	3673	broad.mit.edu	37	5	52374689	52374689	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:52374689C>T	ENST00000296585.5	+	24	3056	c.2913C>T	c.(2911-2913)ttC>ttT	p.F971F		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	971					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GTCCAAAATTCATCTTCTCCC	0.373000													7	12					0	0	0.008291	0	0
PNPLA7	375775	broad.mit.edu	37	9	140437926	140437926	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:140437926G>A	ENST00000406427.1	-	6	800	c.464C>T	c.(463-465)tCt>tTt	p.S155F	PNPLA7_ENST00000277531.4_Missense_Mutation_p.S130F	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	130					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGGCAGGTGAGAATTCTTCAC	0.612000													31	69					0	0	0.003271	0	0
POP1	10940	broad.mit.edu	37	8	99146817	99146817	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:99146817C>T	ENST00000401707.2	+	7	1022	c.941C>T	c.(940-942)tCc>tTc	p.S314F	POP1_ENST00000349693.3_Missense_Mutation_p.S314F	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	314					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			ATCTGGAAGTCCCAGAGGACC	0.507000													23	68					0	0	0.003330	0	0
FAM3D	131177	broad.mit.edu	37	3	58635049	58635049	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:58635049C>T	ENST00000358781.2	-	4	448	c.138G>A	c.(136-138)aaG>aaA	p.K46K		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	46					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CACGGATCTCCTTGGTGGGCG	0.632000													15	27					0	0	0.007413	0	0
ZNF229	7772	broad.mit.edu	37	19	44936407	44936407	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:44936407C>T	ENST00000588931.1	-	5	661	c.228G>A	c.(226-228)agG>agA	p.R76R	ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000291187.4_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CCAGAGGATTCCTCTCACCCA	0.443000													28	66					0	0	0.008361	0	0
TBX18	9096	broad.mit.edu	37	6	85446758	85446758	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:85446758G>A	ENST00000369663.5	-	8	1806	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	490					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGACATTCCCGAAATCTGCAT	0.527000													46	112					0	0	0.014410	0	0
C11orf80	79703	broad.mit.edu	37	11	66571633	66571633	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:66571633A>G	ENST00000360962.4	+	9	1017	c.1010A>G	c.(1009-1011)aAc>aGc	p.N337S	C11orf80_ENST00000527634.1_Missense_Mutation_p.N119S|C11orf80_ENST00000540737.1_Missense_Mutation_p.N172S|C11orf80_ENST00000532565.2_Missense_Mutation_p.N118S|C11orf80_ENST00000525449.2_Missense_Mutation_p.N182S|C11orf80_ENST00000346672.4_Missense_Mutation_p.N183S	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	182										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						GTTTCTTCCAACCAGCTTAAC	0.438000													11	23					0	0	0.010729	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142557691	142557691	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:142557691C>T	ENST00000295992.3	-	5	937	c.631G>A	c.(631-633)Gat>Aat	p.D211N	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.D211N	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	211	CUB 2.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GCCACATAATCATATCGGCAG	0.373000													10	37					0	0	0.003163	0	0
FAM47C	442444	broad.mit.edu	37	X	37027273	37027273	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:37027273G>A	ENST00000358047.3	+	1	842	c.790G>A	c.(790-792)Gag>Aag	p.E264K		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	264										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						GGAGCCTCCCGAGACTGGAGT	0.612000													20	9					0	0	0.010504	0	0
MYO3A	53904	broad.mit.edu	37	10	26315456	26315456	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:26315456G>A	ENST00000265944.5	+	10	1114	c.948G>A	c.(946-948)aaG>aaA	p.K316K	MYO3A_ENST00000543632.1_Silent_p.K316K	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	316					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GCACAGAAAAGGCCAGGTAAT	0.323000													8	19					0	0	0.008291	0	0
ANK3	288	broad.mit.edu	37	10	61829254	61829254	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:61829254G>A	ENST00000280772.1	-	37	11576	c.11385C>T	c.(11383-11385)tcC>tcT	p.S3795S	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3795					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTGTATAGTGGAAGAATCCA	0.363000													10	51					0	0	0.006214	0	0
ADAD2	161931	broad.mit.edu	37	16	84230520	84230520	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:84230520G>A	ENST00000268624.3	+	11	2031	c.1938G>A	c.(1936-1938)ctG>ctA	p.L646L	RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000315906.5_Silent_p.L564L|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	564					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CTCTCCTCCTGGACCAGCAGG	0.667000													5	12					0	0	0.001168	0	0
LRRC4	64101	broad.mit.edu	37	7	127670245	127670245	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:127670245C>T	ENST00000249363.3	-	2	706	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	150						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CCAGAGCTCCCGCAGCTTGGA	0.612000													21	49					0	0	0.012319	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625948	140625948	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140625948G>A	ENST00000231173.3	+	1	802	c.802G>A	c.(802-804)Gat>Aat	p.D268N		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		268	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCTGCTAGGGATTTAGACAC	0.498000													5	9					0	0	0.000602	0	0
GIGYF1	64599	broad.mit.edu	37	7	100285673	100285673	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100285673G>A	ENST00000275732.5	-	2	1305	c.96C>T	c.(94-96)ccC>ccT	p.P32P	GIGYF1_ENST00000471340.2_5'UTR	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	32										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCTTGTATTTGGGCATGGCAG	0.637000													8	54					0	0	0.004482	0	0
RAB11B	9230	broad.mit.edu	37	19	8467468	8467468	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:8467468G>A	ENST00000594216.1	+	4	554	c.530G>A	c.(529-531)gGg>gAg	p.G177E	RAB11B_ENST00000328024.6_Intron|RAB11B_ENST00000601897.1_Missense_Mutation_p.G58E			Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	0					cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			large_intestine(2)|lung(1)|ovary(1)	4						GGACCAGATGGGTGTGGGTAG	0.512000													9	12					0	0	0.004482	0	0
DNAH5	1767	broad.mit.edu	37	5	13900509	13900509	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:13900509G>A	ENST00000265104.4	-	15	2169	c.2065C>T	c.(2065-2067)Cat>Tat	p.H689Y		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	689	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGACCTACATGAATTTCTTCA	0.373000									Kartagener syndrome				4	16					0	0	0.000602	0	0
NEFM	4741	broad.mit.edu	37	8	24772225	24772225	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:24772225A>T	ENST00000221166.5	+	1	1701	c.919A>T	c.(919-921)Aag>Tag	p.K307*	NEFM_ENST00000518131.1_Nonsense_Mutation_p.K307*|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Nonsense_Mutation_p.K307*			P07197	NFM_HUMAN	neurofilament, medium polypeptide	307	Coil 2B.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CGAGCAGAACAAGGAGGCCAT	0.627000													13	12					0	0	0.002450	0	0
SLC35G5	83650	broad.mit.edu	37	8	11189494	11189494	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:11189494C>T	ENST00000382435.4	+	1	1098	c.879C>T	c.(877-879)gcC>gcT	p.A293A		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	293	DUF6 2.					integral to membrane											TGGTTGTGGCCCTTATACTGC	0.572000													52	81					0	0	0.014410	0	0
EPHA2	1969	broad.mit.edu	37	1	16461625	16461625	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:16461625G>A	ENST00000358432.5	-	7	1642	c.1488C>T	c.(1486-1488)gaC>gaT	p.D496D		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	496	Fibronectin type-III 2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		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;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CTGGGGCCAGGTCGTCCAGGG	0.662000													83	140					0	0	0.014410	0	0
NLRP14	338323	broad.mit.edu	37	11	7092536	7092536	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:7092536C>T	ENST00000299481.4	+	12	3625	c.3279C>T	c.(3277-3279)ttC>ttT	p.F1093F		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	1093					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GGTGGTGTTTCTGATTTGAAG	0.353000													10	20					0	0	0.006214	0	0
OR4K1	79544	broad.mit.edu	37	14	20404079	20404079	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:20404079T>G	ENST00000285600.4	+	1	313	c.254T>G	c.(253-255)tTt>tGt	p.F85C		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTTGTAGACTTTTTTATTGAG	0.418000													15	164					0	0	0.006122	0	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	99023382	99023382	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:99023382C>A	ENST00000453547.2	-	4	407	c.408G>T	c.(406-408)ttG>ttT	p.L136F	ARHGAP19_ENST00000358531.4_Missense_Mutation_p.L136F|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.L127F|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.L136F|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.L136F|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.L127F																							CCTCTACTCGCAAGTCTGTTT	0.378000													8	26					0.000157383	0.000170414	0.003080	1	0
OR7E24	26648	broad.mit.edu	37	19	9362580	9362580	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9362580G>C	ENST00000456448.1	+	1	975	c.861G>C	c.(859-861)agG>agC	p.R287S		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						CATCCCCCAGGAAGAGTATGG	0.512000													13	31					0	0	0.004990	0	0
FGF5	2250	broad.mit.edu	37	4	81188190	81188190	+	Missense_Mutation	SNP	G	G	A	rs139356908		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:81188190G>A	ENST00000456523.3	+	1	398	c.212G>A	c.(211-213)gGa>gAa	p.G71E	FGF5_ENST00000312465.7_Missense_Mutation_p.G71E	NM_033143.2	NP_149134.1	P12034	FGF5_HUMAN	fibroblast growth factor 5	71					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	p.G71V(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						GGCAGCCAAGGAAGTGGCTTG	0.612000													20	47					0	0	0.014323	0	0
ITGA4	3676	broad.mit.edu	37	2	182350645	182350645	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:182350645G>A	ENST00000397033.2	+	10	1509	c.1079G>A	c.(1078-1080)gGa>gAa	p.G360E		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	360					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AACCTCGTTGGAAGTGACAAA	0.368000													18	25					0	0	0.014323	0	0
SOHLH2	54937	broad.mit.edu	37	13	36744763	36744763	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:36744763G>A	ENST00000379881.3	-	10	1250	c.1162C>T	c.(1162-1164)Cat>Tat	p.H388Y	CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.H465Y|SOHLH2_ENST00000554962.1_Missense_Mutation_p.H465Y	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2									p.H388N(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GAAGGTAAATGAATTGAAATG	0.483000													25	38					0	0	0.003954	0	0
ZNF558	148156	broad.mit.edu	37	19	8922501	8922501	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:8922501G>A	ENST00000601372.1	-	10	1376	c.665C>T	c.(664-666)tCc>tTc	p.S222F	ZNF558_ENST00000444186.2_Missense_Mutation_p.S151F|ZNF558_ENST00000301475.1_Missense_Mutation_p.S222F			Q96NG5	ZN558_HUMAN	zinc finger protein 558	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.S222F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CAGTCTAAGGGATGAGGGATC	0.408000													7	24					0	0	0.001984	0	0
NMUR2	56923	broad.mit.edu	37	5	151784180	151784180	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:151784180C>T	ENST00000255262.3	-	1	660	c.495G>A	c.(493-495)agG>agA	p.R165R	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	165					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			TGCCGAGGATCCTGAGGGCCC	0.637000													6	27					0	0	0.001168	0	0
CHI3L2	1117	broad.mit.edu	37	1	111770380	111770380	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:111770380C>T	ENST00000445067.2	+	3	800	c.29C>T	c.(28-30)tCt>tTt	p.S10F	CHI3L2_ENST00000369744.2_Missense_Mutation_p.S10F|CHI3L2_ENST00000369748.4_Missense_Mutation_p.S10F			Q15782	CH3L2_HUMAN	chitinase 3-like 2	10					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		GACCAGAAGTCTCTCTGGGCA	0.483000													14	46					0	0	0.004007	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561506	44561506	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:44561506G>A	ENST00000332567.4	-	1	482	c.130C>T	c.(130-132)Ctg>Ttg	p.L44L	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	44	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GTCTCCGCCAGGATGTCTGCC	0.572000													4	15					0	0	0.009096	0	0
CREB3L4	148327	broad.mit.edu	37	1	153946425	153946425	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:153946425G>A	ENST00000368607.3	+	10	1338	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000271889.4_Missense_Mutation_p.E358K|CREB3L4_ENST00000368603.1_Missense_Mutation_p.E358K|CREB3L4_ENST00000368600.3_Missense_Mutation_p.E338K|CREB3L4_ENST00000405694.3_Missense_Mutation_p.E211K	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	358					response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGACTGAGGGAGCCACCTGG	0.552000													14	30					0	0	0.001855	0	0
NMUR2	56923	broad.mit.edu	37	5	151784302	151784302	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:151784302G>A	ENST00000255262.3	-	1	538	c.373C>T	c.(373-375)Ctc>Ttc	p.L125F	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	125					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GTCTCAAAGAGGGCCGTCTTG	0.607000													17	55					0	0	0.008871	0	0
SHFM1	7979	broad.mit.edu	37	7	96339008	96339008	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:96339008G>A	ENST00000248566.2	-	1	195	c.68C>T	c.(67-69)cCt>cTt	p.P23L	SHFM1_ENST00000413065.1_Missense_Mutation_p.P23L|SHFM1_ENST00000444799.1_Missense_Mutation_p.P23L|SHFM1_ENST00000417009.1_Missense_Mutation_p.P23L	NM_006304.1	NP_006295.1	P60896	DSS1_HUMAN	split hand/foot malformation (ectrodactyly) type 1	23					proteolysis	proteasome complex	peptidase activity|protein binding			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)					ACCTTCGGCAGGGAACTCTTC	0.597000								Homologous recombination					56	93					0	0	0.014410	0	0
IL1R2	7850	broad.mit.edu	37	2	102625058	102625058	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:102625058G>A	ENST00000332549.3	+	2	250	c.21G>A	c.(19-21)ttG>ttA	p.L7L	IL1R2_ENST00000441002.1_Silent_p.L7L|IL1R2_ENST00000393414.2_Silent_p.L7L	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	7					immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TGTACGTGTTGGTAATGGGAG	0.542000													41	139					0	0	0.014410	0	0
DCUN1D3	123879	broad.mit.edu	37	16	20873619	20873619	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:20873619G>A	ENST00000324344.3	-	2	527	c.242C>T	c.(241-243)tCc>tTc	p.S81F	DCUN1D3_ENST00000563934.1_Missense_Mutation_p.S81F|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	81					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		CTCGGCATTGGACTTGGACTC	0.567000													40	107					0	0	0.008740	0	0
ATP13A5	344905	broad.mit.edu	37	3	193002816	193002816	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:193002816G>A	ENST00000342358.4	-	27	3230	c.3113C>T	c.(3112-3114)tCa>tTa	p.S1038L	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1038					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ACTTAAAATTGAACCAGGAAT	0.393000													9	27					0	0	0.006214	0	0
SYT15	83849	broad.mit.edu	37	10	46968689	46968689	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:46968689G>A	ENST00000374323.3	-	2	993	c.406C>T	c.(406-408)Ctt>Ttt	p.L136F	SYT15_ENST00000374325.3_Missense_Mutation_p.L83F|SYT15_ENST00000374321.4_Missense_Mutation_p.L83F|SYT15_ENST00000503753.1_Missense_Mutation_p.L83F			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	83						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CGGCCTTGAAGGGTTGGGGGC	0.637000													5	90					0	0	0.000602	0	0
LRRK1	79705	broad.mit.edu	37	15	101562664	101562664	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:101562664C>T	ENST00000284395.5	+	16	2320	c.1920C>T	c.(1918-1920)atC>atT	p.I640I	LRRK1_ENST00000388948.3_Silent_p.I643I			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	643	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGATGATCATCGTGGGTCCCC	0.587000													18	61					0	0	0.010504	0	0
RIMS2	9699	broad.mit.edu	37	8	104898041	104898041	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:104898041A>G	ENST00000507740.1	+	2	874	c.638A>G	c.(637-639)gAa>gGa	p.E213G	RIMS2_ENST00000436393.2_Missense_Mutation_p.E183G|RIMS2_ENST00000262231.10_Missense_Mutation_p.E213G|RIMS2_ENST00000406091.3_Missense_Mutation_p.E405G	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	436					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GCTGCCATGGAAAATCAGCGA	0.458000										HNSCC(12;0.0054)			14	26					0	0	0.003163	0	0
KCNH2	3757	broad.mit.edu	37	7	150648587	150648587	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:150648587G>A	ENST00000392968.2	-	5	2726	c.1606C>T	c.(1606-1608)Ccc>Tcc	p.P536S	KCNH2_ENST00000262186.5_Missense_Mutation_p.P632S|KCNH2_ENST00000330883.4_Missense_Mutation_p.P292S|KCNH2_ENST00000430723.3_Missense_Mutation_p.P632S			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	632					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TTGGTGTTGGGAGAGACGTTG	0.622000													41	54					0	0	0.006999	0	0
RYR1	6261	broad.mit.edu	37	19	38991630	38991630	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:38991630G>A	ENST00000355481.4	+	47	7745	c.7614_splice	c.e47+1	p.T2538_splice	RYR1_ENST00000359596.3_Splice_Site_p.T2538_splice|RYR1_ENST00000360985.3_Splice_Site_p.T2538_splice	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2538	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGCTGGACACGGTGAGCAACC	0.617000													6	19					0	0	0.001168	0	0
FOLH1	2346	broad.mit.edu	37	11	49204777	49204777	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:49204777C>T	ENST00000340334.7	-	8	1167	c.799G>A	c.(799-801)Gga>Aga	p.G267R	FOLH1_ENST00000356696.3_Missense_Mutation_p.G282R|FOLH1_ENST00000533034.1_Missense_Mutation_p.G267R|FOLH1_ENST00000256999.2_Missense_Mutation_p.G282R|FOLH1_ENST00000343844.4_5'UTR	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	282					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TCTGCAATTCCACGCCTATAA	0.348000													9	85					0	0	0.010729	0	0
NLRP13	126204	broad.mit.edu	37	19	56413423	56413423	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:56413423C>T	ENST00000588751.1	-	9	2791	c.2767G>A	c.(2767-2769)Gat>Aat	p.D923N	NLRP13_ENST00000342929.3_Missense_Mutation_p.D923N			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	923							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGGTTACCATCTGGGCGACCC	0.547000													9	46					0	0	0.008291	0	0
CETP	1071	broad.mit.edu	37	16	57004978	57004978	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:57004978C>T	ENST00000200676.3	+	6	691	c.561C>T	c.(559-561)ttC>ttT	p.F187F	CETP_ENST00000566128.1_Silent_p.F122F|CETP_ENST00000379780.2_Silent_p.F187F|CETP_ENST00000569082.1_3'UTR	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	187					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						TCACAAATTTCATCTCCTTCA	0.582000													14	39					0	0	0.004007	0	0
EHMT1	79813	broad.mit.edu	37	9	140708909	140708909	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:140708909C>T	ENST00000460843.1	+	22	3234	c.3207C>T	c.(3205-3207)tcC>tcT	p.S1069S		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1069	Pre-SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ACGACTGCTCCTCCAGCAACT	0.632000													29	80					0	0	0.003755	0	0
PARP8	79668	broad.mit.edu	37	5	50117146	50117146	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:50117146C>T	ENST00000281631.5	+	16	1926	c.1768C>T	c.(1768-1770)Cct>Tct	p.P590S	PARP8_ENST00000514342.2_Intron|PARP8_ENST00000505554.1_Missense_Mutation_p.P569S|PARP8_ENST00000505697.2_Missense_Mutation_p.P590S|PARP8_ENST00000514067.2_Intron|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Intron	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	590						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TCCTAATGATCCTCAGATGTT	0.403000													6	31					0	0	0.003080	0	0
BRF1	2972	broad.mit.edu	37	14	105688140	105688140	+	Translation_Start_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:105688140C>T	ENST00000547530.1	-	0	742				BRF1_ENST00000446501.2_Missense_Mutation_p.G149D|BRF1_ENST00000440513.3_Missense_Mutation_p.G272D|BRF1_ENST00000327359.3_Missense_Mutation_p.G272D|BRF1_ENST00000546474.1_Missense_Mutation_p.G387D|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000392557.4_Missense_Mutation_p.G183D|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000379937.2_Missense_Mutation_p.G360D			Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit						positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GGGGGCACCACCAAGGAGCTC	0.687000													6	9					0	0	0.001984	0	0
FAT3	120114	broad.mit.edu	37	11	92616291	92616291	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:92616291G>A	ENST00000298047.6	+	23	12686	c.12669G>A	c.(12667-12669)caG>caA	p.Q4223Q	FAT3_ENST00000533797.1_Silent_p.Q558Q|FAT3_ENST00000409404.2_Silent_p.Q4223Q|FAT3_ENST00000525166.1_Silent_p.Q4073Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4223					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)				ACGTCTACCAGGAGGTGGGGC	0.672000										TCGA Ovarian(4;0.039)			59	170					0	0	0.014410	0	0
SLC25A16	8034	broad.mit.edu	37	10	70248224	70248224	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:70248224G>A	ENST00000265870.2	-	7	871	c.773_splice	c.e7+1	p.S258_splice	SLC25A16_ENST00000539557.1_Splice_Site_p.S160_splice|SLC25A16_ENST00000493963.1_5'UTR	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16	258					coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						AGAAACTTACGATATTGTCTG	0.318000													4	12					0	0	0.009096	0	0
VLDLR	7436	broad.mit.edu	37	9	2648285	2648285	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:2648285C>T	ENST00000382100.2	+	13	2256	c.1900C>T	c.(1900-1902)Cgt>Tgt	p.R634C	VLDLR_ENST00000382099.2_Missense_Mutation_p.R634C	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	634					cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TGGCCAAGATCGTAGGATAGT	0.408000													40	39					0	0	0.007835	0	0
TNC	3371	broad.mit.edu	37	9	117849292	117849292	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:117849292C>T	ENST00000350763.4	-	3	1129	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	TNC_ENST00000542877.1_Missense_Mutation_p.E240K|TNC_ENST00000340094.3_Missense_Mutation_p.E240K|TNC_ENST00000535648.1_Missense_Mutation_p.E240K|TNC_ENST00000345230.3_Missense_Mutation_p.E240K|TNC_ENST00000537320.1_Missense_Mutation_p.E240K|TNC_ENST00000346706.3_Missense_Mutation_p.E240K|TNC_ENST00000423613.2_Missense_Mutation_p.E240K|TNC_ENST00000341037.4_Missense_Mutation_p.E240K	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	240	EGF-like 3.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GCGTAGCCTTCGAAACAGATG	0.607000													15	34					0	0	0.004007	0	0
LRRC10	376132	broad.mit.edu	37	12	70004117	70004117	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:70004117C>T	ENST00000361484.3	-	1	825	c.502G>A	c.(502-504)Gag>Aag	p.E168K		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	168						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GTCCTCAGCTCCTGGAGGCGC	0.607000													9	47					0	0	0.004482	0	0
ZNF648	127665	broad.mit.edu	37	1	182025607	182025607	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:182025607G>A	ENST00000339948.3	-	2	1746	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						AGGCAATGCGGAAGGCCCTGC	0.622000													8	16					0	0	0.003080	0	0
TMEM117	84216	broad.mit.edu	37	12	44238716	44238716	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:44238716C>T	ENST00000266534.3	+	2	389	c.262C>T	c.(262-264)Cat>Tat	p.H88Y	TMEM117_ENST00000551577.1_Missense_Mutation_p.H88Y|TMEM117_ENST00000536799.1_Missense_Mutation_p.P17L	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	88						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		ATTTCTGTTCCATCAGCGTTT	0.373000													35	22					0	0	0.008740	0	0
FCRL3	115352	broad.mit.edu	37	1	157667587	157667587	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:157667587G>A	ENST00000368184.3	-	5	712	c.421C>T	c.(421-423)Cct>Tct	p.P141S	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.P141S	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	141	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TAACTATTAGGAAGCTGTTTT	0.353000													25	85					0	0	0.006320	0	0
SLC22A8	9376	broad.mit.edu	37	11	62782234	62782234	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:62782234G>A	ENST00000336232.2	-	2	332	c.197C>T	c.(196-198)cCa>cTa	p.P66L	SLC22A8_ENST00000430500.2_Missense_Mutation_p.P66L|SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000311438.8_Missense_Mutation_p.P66L|SLC22A8_ENST00000545207.1_Intron	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	66					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						CTTCCCATTTGGGCCCATGGG	0.632000													80	113					0	0	0.014410	0	0
ADCY8	114	broad.mit.edu	37	8	131792904	131792904	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:131792904C>T	ENST00000286355.5	-	18	5580	c.3488G>A	c.(3487-3489)gGa>gAa	p.G1163E	ADCY8_ENST00000377928.3_Missense_Mutation_p.G1032E	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1163					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTTGATTTTTCCTTCCTGTTC	0.512000										HNSCC(32;0.087)			24	50					0	0	0.003330	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519312	113519312	+	Missense_Mutation	SNP	C	C	T	rs76910192	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:113519312C>T	ENST00000284601.3	-	4	1903	c.1835G>A	c.(1834-1836)gGg>gAg	p.G612E		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	612					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACCAGTTATCCCTCCTAAAGC	0.393000													5	92					0	0	0.000602	0	0
TRDV1	28518	broad.mit.edu	37	14	22564750	22564750	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:22564750C>T	ENST00000390452.2	+	0	219																											AGATGATTTTCCTTATTCGCC	0.428000													19	55					0	0	0.007413	0	0
SNTN	132203	broad.mit.edu	37	3	63638413	63638413	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:63638413G>A	ENST00000496807.1	+	1	40	c.38G>A	c.(37-39)gGa>gAa	p.G13E	SNTN_ENST00000343837.3_Missense_Mutation_p.G17E			A6NMZ2	SNTAN_HUMAN	sentan, cilia apical structure protein	17						cilium	calcium ion binding			endometrium(2)|ovary(1)	3						CACTTGGAAGGAGATCCCAAT	0.478000													20	31					0	0	0.014323	0	0
TEKT3	64518	broad.mit.edu	37	17	15212016	15212016	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:15212016C>T	ENST00000395930.1	-	8	1407	c.1221G>A	c.(1219-1221)ccG>ccA	p.P407P	TEKT3_ENST00000338696.2_Silent_p.P407P	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	407					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		ACTCAATGTTCGGCCGTCTTG	0.577000													32	28					0	0	0.003271	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53675229	53675229	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:53675229G>A	ENST00000262135.4	-	18	2935	c.2842C>T	c.(2842-2844)Cct>Tct	p.P948S	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.P948S|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.P948S|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.P948S	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	948					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GATGCTGGAGGAAGTCTTTGA	0.348000													85	243					0	0	0.014410	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473158	22473158	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:22473158G>A	ENST00000557788.2	-	0	112																											GCAGGTGAGGGACAGGGTCTC	0.632000													8	44					0	0	0.003080	0	0
HTR2A	3356	broad.mit.edu	37	13	47409563	47409563	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:47409563C>T	ENST00000378688.4	-	3	956	c.825G>A	c.(823-825)cgG>cgA	p.R275R	HTR2A_ENST00000543956.1_Silent_p.R191R|HTR2A_ENST00000542664.1_Silent_p.R275R			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	275					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CTAATTTGGCCCGTGTGCCAA	0.458000													15	21					0	0	0.004007	0	0
F8	2157	broad.mit.edu	37	X	154159406	154159406	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:154159406C>T	ENST00000360256.4	-	14	2859	c.2659G>A	c.(2659-2661)Gca>Aca	p.A887T		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	887	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AACTCTGTTGCTGCAGTTGTC	0.413000													13	11					0	0	0.002450	0	0
VWA3B	200403	broad.mit.edu	37	2	98928323	98928323	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:98928323C>T	ENST00000477737.1	+	27	3767	c.3563C>T	c.(3562-3564)cCa>cTa	p.P1188L	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1188										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTCTTCTGGCCACTGAAAGAA	0.587000													3	14					0	0	0.009096	0	0
C14orf37	145407	broad.mit.edu	37	14	58598337	58598337	+	Missense_Mutation	SNP	G	G	A	rs145807752		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:58598337G>A	ENST00000267485.7	-	4	1918	c.1724C>T	c.(1723-1725)cCt>cTt	p.P575L	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	575						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						AGGAAGTGCAGGGGAAATGCT	0.498000													31	34					0	0	0.008361	0	0
DSG3	1830	broad.mit.edu	37	18	29049214	29049214	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:29049214C>T	ENST00000257189.4	+	12	1882	c.1799C>T	c.(1798-1800)cCa>cTa	p.P600L		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	600					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACTTCTTACCCAACCACAAGC	0.587000													26	40					0	0	0.004656	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161022294	161022294	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:161022294G>A	ENST00000368013.3	-	8	1196	c.876C>T	c.(874-876)atC>atT	p.I292I	ARHGAP30_ENST00000368016.3_Silent_p.I292I|ARHGAP30_ENST00000368015.1_Silent_p.I115I	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	292					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CTAAATTGAAGATAGACCTCC	0.547000													30	174					0	0	0.007291	0	0
ABCB11	8647	broad.mit.edu	37	2	169850324	169850324	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:169850324G>A	ENST00000263817.6	-	8	804	c.680C>T	c.(679-681)aCc>aTc	p.T227I		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	227	ABC transmembrane type-1 1.				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)	ACCACAGATGGTCGAGGTCAT	0.428000													6	8					0	0	0.001168	0	0
CASC1	55259	broad.mit.edu	37	12	25314098	25314098	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:25314098C>T	ENST00000354189.5	-	3	264	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	CASC1_ENST00000395987.3_Missense_Mutation_p.E19K|CASC1_ENST00000395990.2_5'UTR|CASC1_ENST00000320267.9_Missense_Mutation_p.E13K|CASC1_ENST00000537577.1_5'UTR|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000545133.1_Intron	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	13	Glu-rich.									breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TTCAATCGTTCAGCTTTGGTG	0.368000													820	103					0	0	0.014410	0	0
CCDC60	160777	broad.mit.edu	37	12	119942892	119942892	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:119942892C>T	ENST00000327554.2	+	7	1132	c.667C>T	c.(667-669)Ccc>Tcc	p.P223S	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	223										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		ATTCAAAATTCCCACAATGCG	0.517000													36	24					0	0	0.004289	0	0
MYT1L	23040	broad.mit.edu	37	2	1983498	1983498	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:1983498G>A	ENST00000399161.2	-	6	799	c.52C>T	c.(52-54)Cga>Tga	p.R18*	MYT1L_ENST00000428368.2_Nonsense_Mutation_p.R18*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	18					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GACATACCTCGAACCCCTTTG	0.587000													18	10					0	0	0.006122	0	0
TRIM21	6737	broad.mit.edu	37	11	4410968	4410968	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:4410968C>T	ENST00000254436.7	-	3	532	c.420G>A	c.(418-420)caG>caA	p.Q140Q	TRIM21_ENST00000543625.1_Silent_p.Q140Q	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	140					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CTAATGCCACCTGGAGCTTCT	0.463000													20	90					0	0	0.002780	0	0
TFAP2C	7022	broad.mit.edu	37	20	55206395	55206395	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:55206395C>T	ENST00000201031.2	+	2	426	c.183C>T	c.(181-183)ccC>ccT	p.P61P	TFAP2C_ENST00000544508.1_5'UTR	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	61	Gln/Pro-rich (transactivation domain).				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			CCTACTTTCCCCCTCCCTACC	0.701000													5	25					0	0	0.001168	0	0
INADL	10207	broad.mit.edu	37	1	62456008	62456008	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:62456008G>A	ENST00000371158.2	+	28	3953	c.3839G>A	c.(3838-3840)cGa>cAa	p.R1280Q	INADL_ENST00000543708.1_Missense_Mutation_p.R64Q|INADL_ENST00000545929.1_5'UTR|INADL_ENST00000316485.6_Missense_Mutation_p.R1280Q	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1280	PDZ 7.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GCAGATGGACGAATGCGTATT	0.453000													16	39					0	0	0.006122	0	0
OR1A1	8383	broad.mit.edu	37	17	3119431	3119431	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:3119431G>A	ENST00000304094.1	+	1	517	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TGGCAACCAGGAAGTGGCCAA	0.488000													26	28					0	0	0.003954	0	0
TEX29	121793	broad.mit.edu	37	13	111980602	111980602	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:111980602G>A	ENST00000283547.1	+	3	260	c.131G>A	c.(130-132)tGc>tAc	p.C44Y		NM_152324.1	NP_689537.1	Q8N6K0	CM016_HUMAN	testis expressed 29	44						integral to membrane											CTCGGGTGCTGCTTCTACGAA	0.572000													25	29					0	0	0.006320	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270464	1270464	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:1270464G>A	ENST00000348261.5	+	35	6780	c.6532G>A	c.(6532-6534)Gct>Act	p.A2178T	CACNA1H_ENST00000565831.1_Missense_Mutation_p.A2172T|CACNA1H_ENST00000358590.4_Missense_Mutation_p.A2172T	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2178					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GGCCGAGCCCGCTCTGGGTGC	0.746000													17	44					0	0	0.006122	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74911432	74911432	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:74911432G>A	ENST00000289575.5	+	11	2158	c.1763_splice	c.e11+1	p.R588_splice	SLCO2B1_ENST00000525650.1_Splice_Site_p.R444_splice|SLCO2B1_ENST00000532236.1_Splice_Site_p.R472_splice|SLCO2B1_ENST00000428359.2_Splice_Site_p.R566_splice|SLCO2B1_ENST00000341411.4_Splice_Site_p.R361_splice|SLCO2B1_ENST00000454962.2_Splice_Site_p.R361_splice|SLCO2B1_ENST00000531756.1_Splice_Site_p.R333_splice	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	588					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CTCATCCTAAGGTGAAGGTGG	0.602000													28	56					0	0	0.007291	0	0
TGM6	343641	broad.mit.edu	37	20	2381057	2381057	+	Missense_Mutation	SNP	G	G	A	rs148376598	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:2381057G>A	ENST00000202625.2	+	7	1017	c.956G>A	c.(955-957)cGg>cAg	p.R319Q	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Missense_Mutation_p.R319Q	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	319					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TCCTTCGGGCGGACCCTGGAG	0.612000													26	34					0	0	0.006320	0	0
GRM1	2911	broad.mit.edu	37	6	146755520	146755520	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:146755520C>T	ENST00000361719.2	+	9	3643	c.3173C>T	c.(3172-3174)cCc>cTc	p.P1058L	GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P1058L	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1058					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)	CCCGGTGGTCCCGGGAACGGG	0.667000													8	24					0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9048241	9048241	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9048241G>A	ENST00000397910.4	-	5	33593	c.33390C>T	c.(33388-33390)gcC>gcT	p.A11130A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11132	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						CATGACTGGTGGCCATTGAAG	0.498000													9	50					0	0	0.006214	0	0
ZNF701	55762	broad.mit.edu	37	19	53085707	53085707	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:53085707G>A	ENST00000540331.1	+	5	818	c.593G>A	c.(592-594)gGa>gAa	p.G198E	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.G132E|ZNF701_ENST00000301093.2_Missense_Mutation_p.G198E	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AGGCATGCTGGAAACAAACCT	0.398000													32	64					0	0	0.003755	0	0
SERPINB6	5269	broad.mit.edu	37	6	2948624	2948624	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:2948624G>A	ENST00000380520.1	-	6	3033	c.1039C>T	c.(1039-1041)Ccc>Tcc	p.P347S	SERPINB6_ENST00000380546.3_Missense_Mutation_p.P347S|SERPINB6_ENST00000380539.1_Missense_Mutation_p.P347S|SERPINB6_ENST00000335686.5_Missense_Mutation_p.P347S|SERPINB6_ENST00000380529.1_Missense_Mutation_p.P347S|SERPINB6_ENST00000380524.1_Missense_Mutation_p.P347S			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	347					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	CAGAAGCGGGGGACGAATCTG	0.587000													8	46					0	0	0.004482	0	0
MUC16	94025	broad.mit.edu	37	19	9046043	9046043	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9046043G>A	ENST00000397910.4	-	5	35791	c.35588C>T	c.(35587-35589)cCa>cTa	p.P11863L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11865	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						AGTTGAAGTTGGAATCATTGT	0.488000													33	86					0	0	0.012213	0	0
NCF4	4689	broad.mit.edu	37	22	37272105	37272105	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:37272105C>T	ENST00000248899.6	+	9	977	c.793C>T	c.(793-795)Ccc>Tcc	p.P265S	NCF4_ENST00000397147.4_Silent_p.L346L	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	265					cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CAGCAGCACTCCCCTATTGAA	0.577000													5	11					0	0	0.000602	0	0
PREX1	57580	broad.mit.edu	37	20	47253040	47253040	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:47253040G>A	ENST00000396220.1	-	32	4150	c.4128C>T	c.(4126-4128)gtC>gtT	p.V1376V	PREX1_ENST00000371941.3_Silent_p.V1376V			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1376					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)			AGTGCAGCAGGACGCCCGTGG	0.721000													6	10					0	0	0.004482	0	0
APOB	338	broad.mit.edu	37	2	21230014	21230014	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:21230014G>A	ENST00000233242.1	-	26	9853	c.9726C>T	c.(9724-9726)ctC>ctT	p.L3242L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3242					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.L3242L(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGGTCCTGGGGAGCTCGTCGT	0.378000													88	243					0	0	0.014410	0	0
HMGCS2	3158	broad.mit.edu	37	1	120306903	120306903	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:120306903C>T	ENST00000369406.3	-	2	500	c.451G>A	c.(451-453)Gat>Aat	p.D151N	HMGCS2_ENST00000544913.2_Missense_Mutation_p.D151N|HMGCS2_ENST00000476640.1_5'UTR	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	151					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TTGCCTGAATCCTGGAAGAGT	0.512000													156	344					0	0	0.014410	0	0
ST18	9705	broad.mit.edu	37	8	53084550	53084550	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:53084550C>T	ENST00000276480.7	-	10	1554	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	291						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTACCCTCTTCCGTCATTACT	0.537000													11	46					0	0	0.008291	0	0
TMEM57	55219	broad.mit.edu	37	1	25784985	25784985	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:25784985C>T	ENST00000374343.4	+	6	935	c.756C>T	c.(754-756)taC>taT	p.Y252Y	TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000470035.1_3'UTR	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	252						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AGATAGAATACCGAGAAAAAG	0.378000													40	59					0	0	0.008740	0	0
RYR2	6262	broad.mit.edu	37	1	237875071	237875071	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:237875071C>T	ENST00000366574.2	+	71	10574	c.10257C>T	c.(10255-10257)ttC>ttT	p.F3419F	RYR2_ENST00000542537.1_Silent_p.F3403F|RYR2_ENST00000360064.6_Silent_p.F3417F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3419					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)			AGCAGAACTTCGTTGTACAGA	0.323000													6	20					0	0	0.003080	0	0
RNF19B	127544	broad.mit.edu	37	1	33404090	33404090	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:33404090G>A	ENST00000356990.5	-	8	1649	c.1650C>T	c.(1648-1650)ccC>ccT	p.P550P	RNF19B_ENST00000373456.7_Silent_p.P551P|RNF19B_ENST00000235150.4_Silent_p.P550P	NM_001127361.1	NP_001120833.1	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	551						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTGTGTCTTTGGGGAAAATTT	0.463000													18	94					0	0	0.008871	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202391754	202391754	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:202391754C>T	ENST00000406302.3	+	3	582	c.429C>T	c.(427-429)ttC>ttT	p.F143F	PPP1R12B_ENST00000480184.1_Silent_p.F143F|PPP1R12B_ENST00000356764.2_Silent_p.F143F|PPP1R12B_ENST00000336894.4_Silent_p.F143F	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	143					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GCAGGTATTTCATTAATCACG	0.413000													15	61					0	0	0.006122	0	0
CNGB1	1258	broad.mit.edu	37	16	57994767	57994767	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:57994767G>A	ENST00000564448.1	-	8	571	c.511C>T	c.(511-513)Cct>Tct	p.P171S	CNGB1_ENST00000311183.4_Missense_Mutation_p.P171S|CNGB1_ENST00000251102.8_Missense_Mutation_p.P171S			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	171	Pro-rich.				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGGGGCTGAGGAAGCACTCTT	0.637000													16	35					0	0	0.004990	0	0
CACNA1E	777	broad.mit.edu	37	1	181754848	181754848	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:181754848G>A	ENST00000526775.1	+	42	5787		c.e42-1		CACNA1E_ENST00000367567.4_Splice_Site|CACNA1E_ENST00000367570.1_Splice_Site|CACNA1E_ENST00000358338.5_Splice_Site|CACNA1E_ENST00000360108.3_Splice_Site|CACNA1E_ENST00000357570.5_Splice_Site|CACNA1E_ENST00000367573.2_Splice_Site	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit						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						TTTTTACCCAGAAAAATGCCC	0.453000													52	116					0	0	0.014410	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41807588	41807588	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:41807588C>T	ENST00000392006.3	+	11	1839	c.1666C>T	c.(1666-1668)Cat>Tat	p.H556Y	HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.H456Y|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.H442Y|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.H456Y|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.H467Y|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.H456Y|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.H556Y	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	556	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TGTCCCAGATCATGCGGTCTT	0.483000													16	29					0	0	0.004007	0	0
TNS4	84951	broad.mit.edu	37	17	38652542	38652542	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:38652542C>T	ENST00000254051.6	-	2	294	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	46					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CCCCAGCCTTCCGTGGTGTAG	0.677000													37	12					0	0	0.004878	0	0
LRP1B	53353	broad.mit.edu	37	2	141819760	141819760	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:141819760C>T	ENST00000389484.3	-	8	2067	c.1096G>A	c.(1096-1098)Gat>Aat	p.D366N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	366					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)		GTCTTTGAATCAATTATCCTT	0.423000										TSP Lung(27;0.18)			15	53					0	0	0.002450	0	0
KIAA1217	56243	broad.mit.edu	37	10	24722007	24722007	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:24722007C>T	ENST00000376454.3	+	4	667	c.637C>T	c.(637-639)Ctc>Ttc	p.L213F	KIAA1217_ENST00000430453.2_Missense_Mutation_p.L134F|KIAA1217_ENST00000458595.1_Missense_Mutation_p.L213F|KIAA1217_ENST00000376462.1_Missense_Mutation_p.L133F|KIAA1217_ENST00000376452.3_Missense_Mutation_p.L213F	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	213					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AATCCGTGCTCTCTTCGTAAG	0.458000													7	24					0	0	0.003080	0	0
XIRP2	129446	broad.mit.edu	37	2	168104641	168104641	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:168104641C>T	ENST00000409195.1	+	9	6828	c.6739C>T	c.(6739-6741)Cac>Tac	p.H2247Y	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H2025Y|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.H2247Y	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2072					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GACTGATGTTCACTTGAAAAG	0.383000													9	12					0	0	0.008291	0	0
HPS1	3257	broad.mit.edu	37	10	100183637	100183637	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:100183637G>A	ENST00000325103.6	-	15	1638	c.1405C>T	c.(1405-1407)Cag>Tag	p.Q469*	HPS1_ENST00000361490.4_Nonsense_Mutation_p.Q469*|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	469					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CCACATGCCTGGAGCAGCCTG	0.642000									Hermansky-Pudlak syndrome				5	24					0	0	0.001168	0	0
TRIM21	6737	broad.mit.edu	37	11	4410916	4410916	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:4410916C>T	ENST00000254436.7	-	3	584	c.472G>A	c.(472-474)Gtg>Atg	p.V158M	TRIM21_ENST00000543625.1_Missense_Mutation_p.V158M	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	158					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		GCAATTTCCACTTCCAACTTC	0.498000													28	99					0	0	0.008361	0	0
ZNF724P	440519	broad.mit.edu	37	19	23405549	23405549	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:23405549G>A	ENST00000418100.1	-	4	1615	c.1498C>T	c.(1498-1500)Cat>Tat	p.H500Y																	endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						TCTCCAGTATGAATTTTCTTA	0.373000													8	12					0	0	0.004482	0	0
TCEA2	6919	broad.mit.edu	37	20	62701941	62701941	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:62701941C>T	ENST00000361317.2	+	9	1133	c.691C>T	c.(691-693)Ctg>Ttg	p.L231L	TCEA2_ENST00000395053.3_3'UTR|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000343484.5_Silent_p.L258L	NM_198723.1	NP_942016.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	258	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GCAGACAGACCTGTTCACCTG	0.632000													6	11					0	0	0.001168	0	0
RNF17	56163	broad.mit.edu	37	13	25439030	25439030	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:25439030G>A	ENST00000255324.5	+	29	4047	c.3995G>A	c.(3994-3996)tGg>tAg	p.W1332*	RNF17_ENST00000339524.3_Intron|RNF17_ENST00000381921.1_Intron	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1332					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AAAAATCCATGGGAGAAATTG	0.289000													33	21					0	0	0.004878	0	0
MAGEA1	4100	broad.mit.edu	37	X	152482329	152482329	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:152482329C>T	ENST00000356661.5	-	3	900	c.682G>A	c.(682-684)Gag>Aag	p.E228K		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	228	MAGE.					cytoplasm|plasma membrane				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCACTGTGCTCCCTCCCATCA	0.572000													33	16					0	0	0.004289	0	0
SCN3A	6328	broad.mit.edu	37	2	165947222	165947222	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:165947222G>A	ENST00000360093.3	-	28	5932	c.5441C>T	c.(5440-5442)tCt>tTt	p.S1814F	SCN3A_ENST00000409101.3_Missense_Mutation_p.S1765F|SCN3A_ENST00000540861.1_Missense_Mutation_p.S297F|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Missense_Mutation_p.S1814F	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1814						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S1814Y(1)|p.S1765Y(1)		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)	TGCAAAATCAGAGAGTTTAGA	0.483000													20	78					0	0	0.014323	0	0
CFHR5	81494	broad.mit.edu	37	1	196971768	196971768	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:196971768G>A	ENST00000367414.5	+	8	1432	c.1376G>A	c.(1375-1377)cGa>cAa	p.R459Q	CFHR5_ENST00000256785.4_Missense_Mutation_p.R435Q	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	435	Sushi 8.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AAAGATGGACGATGGCAATCA	0.333000													6	20					0	0	0.001168	0	0
MYCT1	80177	broad.mit.edu	37	6	153043382	153043382	+	Silent	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:153043382T>C	ENST00000367245.5	+	2	710	c.702T>C	c.(700-702)gaT>gaC	p.D234D	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	234						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CATTCCCAGATTCCTGAGTAG	0.468000													7	77					0	0	0.003080	0	0
CYP2C19	1557	broad.mit.edu	37	10	96522541	96522541	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:96522541G>A	ENST00000371321.3	+	1	161	c.79G>A	c.(79-81)Gga>Aga	p.G27R	CYP2C19_ENST00000464755.1_Intron	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	27					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CTCTGGGAGAGGAAAACTCCC	0.443000													21	50					0	0	0.008871	0	0
CLIP4	79745	broad.mit.edu	37	2	29356663	29356663	+	Silent	SNP	G	G	A	rs138670709		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:29356663G>A	ENST00000320081.5	+	5	765	c.510G>A	c.(508-510)ttG>ttA	p.L170L	CLIP4_ENST00000404424.1_Silent_p.L170L|CLIP4_ENST00000401617.2_Silent_p.L63L|CLIP4_ENST00000401605.1_Silent_p.L170L	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	170										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					GAGTGATTTTGAAAACATCGA	0.343000													8	24					0	0	0.004482	0	0
ABCC4	10257	broad.mit.edu	37	13	95830019	95830019	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:95830019G>A	ENST00000376887.4	-	13	1783	c.1669C>T	c.(1669-1671)Ctc>Ttc	p.L557F	ABCC4_ENST00000431522.1_Missense_Mutation_p.L557F|ABCC4_ENST00000536256.1_Missense_Mutation_p.L482F|ABCC4_ENST00000412704.1_Missense_Mutation_p.L557F|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	557	ABC transporter 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TCGTCCAGGAGATAGATGTCA	0.433000													16	15					0	0	0.007413	0	0
OR8H1	219469	broad.mit.edu	37	11	56058404	56058404	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:56058404C>T	ENST00000313022.2	-	1	162	c.135G>A	c.(133-135)atG>atA	p.M45I		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TTATCAATATCATCCCCACAT	0.428000													53	97					0	0	0.014410	0	0
HTR7	3363	broad.mit.edu	37	10	92509065	92509065	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:92509065G>A	ENST00000371721.3	-	2	1068	c.826C>T	c.(826-828)Cct>Tct	p.P276S	HTR7_ENST00000371719.2_Missense_Mutation_p.P276S|HTR7_ENST00000277874.6_Missense_Mutation_p.P276S|HTR7_ENST00000336152.3_Missense_Mutation_p.P276S			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	276					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GGGAAGCCAGGAAACTTGTGT	0.512000													7	25					0	0	0.003080	0	0
OR8A1	390275	broad.mit.edu	37	11	124440379	124440379	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:124440379C>T	ENST00000284287.3	+	1	487	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GGCCTACGACCGCTATGTTGC	0.493000													5	37					0	0	0.000602	0	0
CNN1	1264	broad.mit.edu	37	19	11660273	11660273	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:11660273G>A	ENST00000592923.1	+	7	1064	c.487G>A	c.(487-489)Gga>Aga	p.G163R	CNN1_ENST00000544952.1_Missense_Mutation_p.G193R|CNN1_ENST00000535659.2_Missense_Mutation_p.G163R|CNN1_ENST00000252456.2_Missense_Mutation_p.G213R			P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	213					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						CACCAACAAAGGAGCCAGCCA	0.692000													12	24					0	0	0.013537	0	0
B3GALT1	8708	broad.mit.edu	37	2	168725897	168725897	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:168725897C>T	ENST00000305861.1	+	2	699	c.348C>T	c.(346-348)ttC>ttT	p.F116F	B3GALT1_ENST00000392690.2_Silent_p.F116F|AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	116					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCACCCTGTTCCTCCTGGGCA	0.488000													15	26					0	0	0.002450	0	0
PCLO	27445	broad.mit.edu	37	7	82582368	82582368	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82582368G>A	ENST00000423517.2	-	5	8238	c.7901C>T	c.(7900-7902)tCt>tTt	p.S2634F	PCLO_ENST00000333891.8_Missense_Mutation_p.S2634F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2565					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGTTCTGAAGAAATTGGAAT	0.453000													33	54					0	0	0.003271	0	0
XKR3	150165	broad.mit.edu	37	22	17288700	17288700	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:17288700G>A	ENST00000331428.5	-	2	366	c.264C>T	c.(262-264)ttC>ttT	p.F88F		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	88						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGTCTTTGTTGAAAAACATCA	0.338000													14	44					0	0	0.003163	0	0
CD93	22918	broad.mit.edu	37	20	23065742	23065742	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:23065742C>T	ENST00000246006.4	-	1	1235	c.1088G>A	c.(1087-1089)gGg>gAg	p.G363E		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	363	EGF-like 3; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCGGAAGCCCCCAGGGGTGTT	0.642000													10	19					0	0	0.008291	0	0
NGF	4803	broad.mit.edu	37	1	115828826	115828826	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:115828826C>T	ENST00000369512.2	-	3	759	c.591G>A	c.(589-591)tgG>tgA	p.W197*	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	197					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	AATATGAGTTCCAGTGCTTTG	0.512000													17	52					0	0	0.006122	0	0
PLEKHA1	59338	broad.mit.edu	37	10	124152833	124152833	+	Silent	SNP	C	C	T	rs142005373		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:124152833C>T	ENST00000368988.1	+	2	240	c.117C>T	c.(115-117)ttC>ttT	p.F39F	PLEKHA1_ENST00000433307.1_Silent_p.F39F|PLEKHA1_ENST00000368990.3_Silent_p.F39F|PLEKHA1_ENST00000538022.1_Silent_p.F39F|PLEKHA1_ENST00000494222.1_3'UTR|PLEKHA1_ENST00000368989.2_Silent_p.F39F			Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	39	PH 1.				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding	p.F39F(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AAGATAGTTTCGTGTGGTACA	0.343000													4	20					0	0	0.009096	0	0
CMYA5	202333	broad.mit.edu	37	5	79033450	79033450	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:79033450G>A	ENST00000446378.2	+	2	8893	c.8862G>A	c.(8860-8862)ttG>ttA	p.L2954L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2954						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)		GTGAGATATTGAATATTCATG	0.368000													6	14					0	0	0.001168	0	0
CHRDL1	91851	broad.mit.edu	37	X	109922606	109922606	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:109922606C>T	ENST00000218054.4	-	11	1394	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K	CHRDL1_ENST00000434224.1_Missense_Mutation_p.E321K|CHRDL1_ENST00000394797.4_Missense_Mutation_p.E400K|CHRDL1_ENST00000444321.2_Missense_Mutation_p.E401K|CHRDL1_ENST00000482160.1_Missense_Mutation_p.E322K|CHRDL1_ENST00000372042.1_Missense_Mutation_p.E402K|CHRDL1_ENST00000372045.1_Missense_Mutation_p.E394K	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	394					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GGAAGCTCCTCAAACATCCTC	0.448000													12	34					0	0	0.001855	0	0
LRRC66	339977	broad.mit.edu	37	4	52860896	52860896	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:52860896C>T	ENST00000343457.3	-	4	2298	c.2292G>A	c.(2290-2292)ggG>ggA	p.G764G		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	764						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TCTTGCATTTCCCTGGAATTG	0.463000													36	27					0	0	0.003755	0	0
SLC22A14	9389	broad.mit.edu	37	3	38355398	38355398	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:38355398C>T	ENST00000273173.4	+	7	1435	c.1344C>T	c.(1342-1344)atC>atT	p.I448I	SLC22A14_ENST00000448498.1_Silent_p.I448I	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	448						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TCCAAGCCATCATCTGGTGCT	0.592000													24	66					0	0	0.004656	0	0
CD2	914	broad.mit.edu	37	1	117311250	117311250	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:117311250G>A	ENST00000369478.3	+	5	1009	c.901G>A	c.(901-903)Gga>Aga	p.G301R		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	301	Pro-rich.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CCCGCCTCCTGGACACCGTGT	0.602000													18	54					0	0	0.004990	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798094	55798094	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:55798094C>T	ENST00000313555.1	+	1	200	c.200C>T	c.(199-201)tCt>tTt	p.S67F		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					AGCAACTTATCTTTCTTAGAC	0.343000													12	35					0	0	0.010729	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110439294	110439294	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:110439294G>A	ENST00000378402.5	+	25	3013	c.2909G>A	c.(2908-2910)gGa>gAa	p.G970E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	970					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)			GAGGGAATGGGAAGAATCTCA	0.552000										HNSCC(38;0.096)			13	40					0	0	0.001855	0	0
PDPN	10630	broad.mit.edu	37	1	13940889	13940889	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:13940889A>T	ENST00000294489.6	+	5	1034	c.693A>T	c.(691-693)aaA>aaT	p.K231N	PDPN_ENST00000475043.1_Missense_Mutation_p.K113N|PDPN_ENST00000509009.1_Missense_Mutation_p.K150N|PDPN_ENST00000376057.4_Missense_Mutation_p.K231N|PDPN_ENST00000487038.1_Missense_Mutation_p.K113N|PDPN_ENST00000376061.4_Missense_Mutation_p.K113N|PDPN_ENST00000513143.1_Missense_Mutation_p.K113N			Q86YL7	PDPN_HUMAN	podoplanin	155					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		TTATGCGAAAAATGTCGGGAA	0.418000													36	72					0	0	0.006999	0	0
OAS3	4940	broad.mit.edu	37	12	113407527	113407527	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:113407527G>A	ENST00000228928.7	+	15	3398	c.3219G>A	c.(3217-3219)cgG>cgA	p.R1073R	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	1073	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GCATGGGACGGAATGGCATCC	0.622000													19	8					0	0	0.014323	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530067	140530067	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140530067G>T	ENST00000231136.1	+	1	229	c.229G>T	c.(229-231)Gat>Tat	p.D77Y	PCDHB6_ENST00000543635.1_Intron	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		77	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGCAGTTTGATCCACAGAC	0.532000													22	59					2.37509e-13	2.60123e-13	0.010504	1	0
ADRB1	153	broad.mit.edu	37	10	115804525	115804525	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:115804525G>A	ENST00000369295.2	+	1	720	c.634G>A	c.(634-636)Gac>Aac	p.D212N		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	212					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	CTGCTACAACGACCCCAAGTG	0.652000													4	19					0	0	0.000602	0	0
OR2T6	254879	broad.mit.edu	37	1	248551788	248551788	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248551788G>A	ENST00000355728.2	+	1	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAGTCTGAGGAACAGGGATG	0.458000													16	38					0	0	0.008871	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999750	46999750	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:46999750C>T	ENST00000374314.4	+	1	1825	c.870C>T	c.(868-870)tcC>tcT	p.S290S	GPRIN2_ENST00000374317.1_Silent_p.S290S			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	290										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CTGGGCATTCCCATTGCTGTG	0.597000													5	82					0	0	0.001168	0	0
MARCH10	162333	broad.mit.edu	37	17	60879061	60879061	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:60879061G>A	ENST00000544856.2	-	3	414	c.36C>T	c.(34-36)ttC>ttT	p.F12F	MARCH10_ENST00000456609.2_Silent_p.F12F|MARCH10_ENST00000311269.5_Silent_p.F12F|MARCH10_ENST00000583600.1_Silent_p.F12F			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	12							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GAACATCGCTGAAGAACTTCT	0.453000													81	30					0	0	0.014410	0	0
ECEL1	9427	broad.mit.edu	37	2	233346544	233346544	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:233346544C>T	ENST00000304546.1	-	13	2022	c.1812G>A	c.(1810-1812)ggG>ggA	p.G604G	ECEL1_ENST00000409941.1_Silent_p.G602G	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	604					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGCCGATGCCCCCGTAGTTGA	0.677000													11	41					0	0	0.010729	0	0
SEC16A	9919	broad.mit.edu	37	9	139345853	139345853	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:139345853G>A	ENST00000313050.7	-	21	6240	c.6167C>T	c.(6166-6168)tCg>tTg	p.S2056L	SEC16A_ENST00000290037.6_Missense_Mutation_p.S1878L|SEC16A_ENST00000371706.3_Missense_Mutation_p.S1878L|SEC16A_ENST00000431893.2_Missense_Mutation_p.S1878L	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1878	Pro-rich.|Required for interaction with SEC23A.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CACCGTCCTCGAGGGGGTCTG	0.627000													6	38					0	0	0.001168	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43895992	43895992	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:43895992G>A	ENST00000389420.3	-	4	829	c.830C>T	c.(829-831)tCg>tTg	p.S277L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S277L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	277	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTGCAAATTCGATCCATGAGC	0.289000													13	8					0	0	0.001855	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561247	44561247	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:44561247C>T	ENST00000332567.4	-	1	741	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	130					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCGTGCTGTCCGTCTGTGCTC	0.637000													18	106					0	0	0.007413	0	0
ALK	238	broad.mit.edu	37	2	29754810	29754810	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:29754810G>A	ENST00000389048.3	-	4	2031	c.1125C>T	c.(1123-1125)atC>atT	p.I375I	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	375	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GCATCAGGAGGATCTCTCTTG	0.532000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				14	37					0	0	0.002450	0	0
OR5T1	390155	broad.mit.edu	37	11	56043563	56043563	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:56043563C>T	ENST00000313033.2	+	1	535	c.449C>T	c.(448-450)cCc>cTc	p.P150L		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					AGCATGTCACCCAGAGTCTAT	0.448000													54	125					0	0	0.014410	0	0
CLCN6	1185	broad.mit.edu	37	1	11889376	11889376	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:11889376C>T	ENST00000346436.6	+	13	1297	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L	CLCN6_ENST00000376487.3_Silent_p.L393L|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Silent_p.L415L	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	415					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CATTCCAGCTCCAGGTAACCC	0.483000													23	42					0	0	0.014323	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280677	105280677	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:105280677C>T	ENST00000327674.4	-	1	708	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	SERPINA7_ENST00000372563.1_Missense_Mutation_p.E125K			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	125					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	AATTCCAGTTCCTTCTTTGGA	0.453000													63	23					0	0	0.014410	0	0
SLC4A11	83959	broad.mit.edu	37	20	3210170	3210170	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:3210170C>T	ENST00000380059.3	-	14	1972	c.1871_splice	c.e14+1	p.S624_splice	SLC4A11_ENST00000539553.1_Splice_Site_p.S581_splice|SLC4A11_ENST00000380056.3_Splice_Site_p.S597_splice|SLC4A11_ENST00000474451.1_5'UTR	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	597	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						AGCCCCTCACCTCTTCTTGAA	0.657000													12	28					0	0	0.003163	0	0
KALRN	8997	broad.mit.edu	37	3	123946890	123946890	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:123946890G>A	ENST00000360013.3	+	2	248	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	KALRN_ENST00000460856.1_Missense_Mutation_p.E41K|KALRN_ENST00000240874.3_Missense_Mutation_p.E41K	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	41	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TATCCTAAAGGAAAAGGTGGC	0.458000													26	120					0	0	0.006320	0	0
DPP9	91039	broad.mit.edu	37	19	4684699	4684699	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:4684699G>A	ENST00000262960.9	-	18	2431	c.2154C>T	c.(2152-2154)ttC>ttT	p.F718F	DPP9_ENST00000598800.1_Silent_p.F689F|AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000601173.1_5'UTR|DPP9_ENST00000594671.1_Silent_p.F689F	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	689					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GGGCCCCTTCGAACCGAAGCC	0.602000													3	8					0	0	0.004672	0	0
PACSIN1	29993	broad.mit.edu	37	6	34499442	34499442	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:34499442C>T	ENST00000538621.1	+	9	1348	c.1103C>T	c.(1102-1104)cCc>cTc	p.P368L	PACSIN1_ENST00000374043.2_Missense_Mutation_p.P326L|PACSIN1_ENST00000244458.2_Missense_Mutation_p.P368L	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	368					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						AGTGGGAACCCCTTTGGGGGC	0.627000													17	140					0	0	0.010504	0	0
TRANK1	9881	broad.mit.edu	37	3	36898104	36898104	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:36898104C>A	ENST00000429976.2	-	12	3224	c.2977G>T	c.(2977-2979)Gcc>Tcc	p.A993S	TRANK1_ENST00000428977.2_Missense_Mutation_p.A443S|TRANK1_ENST00000301807.6_Missense_Mutation_p.A443S			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	993					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ATGTTAAAGGCCATGTTGGTG	0.537000													57	143					2.3441e-25	2.57526e-25	0.014410	1	0
PIWIL4	143689	broad.mit.edu	37	11	94340698	94340698	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:94340698C>T	ENST00000299001.6	+	14	1943	c.1732C>T	c.(1732-1734)Ctt>Ttt	p.L578F	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	578	Piwi.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CCAATGTGTGCTTGCTCGGAC	0.463000													16	27					0	0	0.004990	0	0
FAM135B	51059	broad.mit.edu	37	8	139153476	139153476	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:139153476C>T	ENST00000395297.1	-	17	3925	c.3755G>A	c.(3754-3756)gGa>gAa	p.G1252E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1252								p.G1252V(2)|p.G1252E(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTACAGGGTTCCCAGGTGAGG	0.537000										HNSCC(54;0.14)			26	43					0	0	0.004656	0	0
ZNF43	7594	broad.mit.edu	37	19	21992307	21992307	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:21992307C>T	ENST00000594012.1	-	7	1028	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	ZNF43_ENST00000354959.4_Missense_Mutation_p.E178K|ZNF43_ENST00000595461.1_Missense_Mutation_p.E172K|ZNF43_ENST00000598381.1_Missense_Mutation_p.E172K	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTGCCACATTCTTTGCATTTG	0.289000													12	18					0	0	0.010729	0	0
RNF144B	255488	broad.mit.edu	37	6	18465262	18465262	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:18465262G>A	ENST00000259939.3	+	8	1193	c.876G>A	c.(874-876)cgG>cgA	p.R292R	RNF144B_ENST00000429054.2_Silent_p.R203R	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	ring finger protein 144B	292					apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			AGTCCTGTCGGGGCAAGAAGA	0.493000													16	15					0	0	0.003163	0	0
PLXNB1	5364	broad.mit.edu	37	3	48464919	48464919	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:48464919G>C	ENST00000358536.4	-	3	1371	c.1102C>G	c.(1102-1104)Cca>Gca	p.P368A	PLXNB1_ENST00000358459.4_Missense_Mutation_p.P368A|PLXNB1_ENST00000456774.1_Missense_Mutation_p.P368A|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.P368A	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	368	Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCACCACTGGCAGCTGTGCA	0.597000													4	57					0	0	0.000602	0	0
ARAP1	116985	broad.mit.edu	37	11	72423317	72423317	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:72423317C>T	ENST00000359373.5	-	7	1797	c.946G>A	c.(946-948)Gac>Aac	p.D316N	ARAP1_ENST00000429686.1_Missense_Mutation_p.D71N|ARAP1_ENST00000426523.1_Missense_Mutation_p.D71N|ARAP1_ENST00000334211.8_Missense_Mutation_p.D71N|ARAP1_ENST00000455638.2_Missense_Mutation_p.D316N|ARAP1_ENST00000393609.3_Missense_Mutation_p.D316N|ARAP1_ENST00000393605.3_Missense_Mutation_p.D76N			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	316					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GGCGGCCCGTCCATGGGGTGT	0.662000													114	254					0	0	0.014410	0	0
EDN1	1906	broad.mit.edu	37	6	12294190	12294190	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:12294190G>A	ENST00000379375.5	+	3	517	c.250G>A	c.(250-252)Gga>Aga	p.G84R		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	84					artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				TGTTCCGTATGGACTTGGAAG	0.413000													11	16					0	0	0.010729	0	0
FOXJ1	2302	broad.mit.edu	37	17	74136158	74136158	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:74136158G>A	ENST00000322957.6	-	2	673	c.319C>T	c.(319-321)Cca>Tca	p.P107S		NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	107					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			TCGGGGGGTGGGGCCTGCAGC	0.726000													7	18					0	0	0.004482	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72191409	72191409	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:72191409G>A	ENST00000555818.1	+	17	4882	c.4534G>A	c.(4534-4536)Gaa>Aaa	p.E1512K	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E1491K|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.E966K|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E1491K	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1512					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CGATGGCAATGAAATAGCCCA	0.493000													17	26					0	0	0.014323	0	0
FGF6	2251	broad.mit.edu	37	12	4554479	4554479	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:4554479C>T	ENST00000228837.2	-	1	301	c.258G>A	c.(256-258)cgG>cgA	p.R86R		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	86					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			AGTAGAGCCTCCGCTGCCGCT	0.652000													20	16					0	0	0.008871	0	0
OPLAH	26873	broad.mit.edu	37	8	145111556	145111556	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:145111556G>A	ENST00000426825.1	-	13	1890	c.1809C>T	c.(1807-1809)ccC>ccT	p.P603P	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	603							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CCCCCGCACGGGGCGAGCGGG	0.672000													6	20					0	0	0.001168	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42067532	42067532	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:42067532C>T	ENST00000457542.2	+	2	345	c.59C>T	c.(58-60)tCc>tTc	p.S20F	MAPKBP1_ENST00000260357.7_5'UTR|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.S20F|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.S20F|MAPKBP1_ENST00000507762.1_Intron|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.S20F	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	20										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGATCTCCATCCATCAAACTG	0.547000													14	36					0	0	0.004007	0	0
OVCH2	341277	broad.mit.edu	37	11	7721909	7721909	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:7721909C>T	ENST00000454689.1	-	0	834				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		CCAGGGGATCCTTGATCACTT	0.507000													8	22					0	0	0.003080	0	0
ADAM28	10863	broad.mit.edu	37	8	24168913	24168913	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:24168913G>A	ENST00000265769.4	+	5	456	c.346G>A	c.(346-348)Gtt>Att	p.V116I	RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.V116I|ADAM28_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	116					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TAATGAAAAGGTTTCTGACGC	0.373000													17	35					0	0	0.010504	0	0
RIN2	54453	broad.mit.edu	37	20	19956095	19956095	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:19956095C>T	ENST00000255006.6	+	8	1722	c.1573C>T	c.(1573-1575)Ccc>Tcc	p.P525S	RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	476					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CATGGCGCCCCCCATCAAGTC	0.587000													10	37					0	0	0.006214	0	0
PLB1	151056	broad.mit.edu	37	2	28855815	28855815	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:28855815G>A	ENST00000422425.2	+	55	4018	c.3974G>A	c.(3973-3975)gGg>gAg	p.G1325E	PLB1_ENST00000327757.5_Missense_Mutation_p.G1336E|PLB1_ENST00000541605.1_Missense_Mutation_p.G301E	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1336	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TTGCAGAGAGGGGACACTGAC	0.582000													21	48					0	0	0.003330	0	0
WDFY3	23001	broad.mit.edu	37	4	85674967	85674967	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:85674967G>A	ENST00000322366.6	-	35	6029	c.5622C>T	c.(5620-5622)ttC>ttT	p.F1874F	WDFY3_ENST00000295888.4_Silent_p.F1874F			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1874						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AATATCTGAAGAACTGCATCA	0.483000													12	23					0	0	0.013537	0	0
ENTHD1	150350	broad.mit.edu	37	22	40283749	40283749	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:40283749C>T	ENST00000325157.6	-	2	254	c.4G>A	c.(4-6)Gcg>Acg	p.A2T		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	2										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CTCCTGAACGCCATAAGTAAT	0.408000													5	22					0	0	0.001168	0	0
OR10R2	343406	broad.mit.edu	37	1	158450494	158450494	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158450494C>T	ENST00000368152.1	+	1	827	c.827C>T	c.(826-828)tCc>tTc	p.S276F	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GGCTGTGCTTCCTTCATCTAC	0.488000													21	33					0	0	0.010504	0	0
IMPG1	3617	broad.mit.edu	37	6	76751789	76751789	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:76751789C>T	ENST00000369950.3	-	2	311	c.122G>A	c.(121-123)aGa>aAa	p.R41K	IMPG1_ENST00000369963.3_Intron	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	41					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TGTTTCATTTCTTGGGGGATT	0.318000													27	57					0	0	0.009535	0	0
HHIPL2	79802	broad.mit.edu	37	1	222721128	222721128	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:222721128C>T	ENST00000343410.6	-	1	317	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	87					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCAAAATATTCCATGATGTCC	0.522000													191	341					0	0	0.014410	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576787	33576787	+	Missense_Mutation	SNP	G	G	A	rs149776016	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:33576787G>A	ENST00000504830.1	-	19	3679	c.3344C>T	c.(3343-3345)tCg>tTg	p.S1115L	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S1030L	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1115	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCCTCCCTCCGAGGTAGGACC	0.493000										HNSCC(64;0.19)			16	27					0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179556794	179556794	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179556794C>T	ENST00000589042.1	-	121	31935	c.31711G>A	c.(31711-31713)Gag>Aag	p.E10571K	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E9327K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E10254K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10254	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)			GGCTTTTTCTCCTCTGGCACG	0.463000													9	48					0	0	0.006214	0	0
DNAH9	1770	broad.mit.edu	37	17	11556254	11556254	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:11556254G>A	ENST00000262442.3	+	14	2598	c.2530G>A	c.(2530-2532)Gat>Aat	p.D844N	DNAH9_ENST00000454412.2_Missense_Mutation_p.D844N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	844	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D844Y(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGATCGGCATGATCGAATGGA	0.418000													12	32					0	0	0.013537	0	0
ANKRD7	56311	broad.mit.edu	37	7	117876137	117876137	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:117876137C>T	ENST00000357099.4	+	5	744	c.571C>T	c.(571-573)Cca>Tca	p.P191S	ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000433239.1_Missense_Mutation_p.P118S|ANKRD7_ENST00000417525.1_Missense_Mutation_p.P118S|ANKRD7_ENST00000265224.4_Missense_Mutation_p.P171S			Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	171					male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						TAACAATAATCCAAAAATGGT	0.279000													8	79					0	0	0.006214	0	0
ABCC4	10257	broad.mit.edu	37	13	95861831	95861831	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:95861831G>A	ENST00000376887.4	-	6	756	c.642C>T	c.(640-642)ttC>ttT	p.F214F	ABCC4_ENST00000431522.1_Silent_p.F214F|ABCC4_ENST00000536256.1_Silent_p.F139F|ABCC4_ENST00000412704.1_Silent_p.F214F|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	214	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CTGCCCACAGGAAGTGTAAGA	0.473000													4	21					0	0	0.000602	0	0
MRAP2	112609	broad.mit.edu	37	6	84765107	84765107	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:84765107G>A	ENST00000257776.4	+	2	205	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	24					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						TTACACCTGGGAATATGAATA	0.393000													21	43					0	0	0.008871	0	0
DOCK3	1795	broad.mit.edu	37	3	51198003	51198003	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:51198003G>A	ENST00000266037.9	+	12	930	c.907G>A	c.(907-909)Gac>Aac	p.D303N		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	303						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCTCCTGAACGACTCAAAGAA	0.507000													5	13					0	0	0.001168	0	0
SEMA3D	223117	broad.mit.edu	37	7	84697527	84697527	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:84697527G>A	ENST00000284136.6	-	5	612	c.569C>T	c.(568-570)cCt>cTt	p.P190L	SEMA3D_ENST00000444867.1_Missense_Mutation_p.P190L	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	190	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGAAGCAAAAGGCTGCTGAGG	0.358000													19	20					0	0	0.014323	0	0
FRAS1	80144	broad.mit.edu	37	4	79410226	79410226	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:79410226G>T	ENST00000264895.6	+	59	9390	c.8950G>T	c.(8950-8952)Ggg>Tgg	p.G2984W		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2979	Calx-beta 4.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATTTCTCAAAGGGGACAAAGT	0.398000													14	17					2.31682e-05	2.51316e-05	0.003163	1	0
ZNF138	7697	broad.mit.edu	37	7	64292269	64292269	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:64292269C>T	ENST00000359735.3	+	4	825	c.478C>T	c.(478-480)Cat>Tat	p.H160Y	ZNF138_ENST00000307355.7_Missense_Mutation_p.H217Y|ZNF138_ENST00000397136.2_Missense_Mutation_p.H160Y|ZNF138_ENST00000440155.2_Missense_Mutation_p.H191Y|ZNF138_ENST00000440598.1_3'UTR|ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000437743.1_Missense_Mutation_p.H185Y	NM_001271637.1|NM_001271639.1	NP_001258566.1|NP_001258568.1	B4DP87	B4DP87_HUMAN	zinc finger protein 138	191					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				TAAGAAAATTCATACTGGAGA	0.333000													18	23					0	0	0.007413	0	0
HTR1D	3352	broad.mit.edu	37	1	23520171	23520171	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:23520171G>A	ENST00000374619.1	-	1	1051	c.542C>T	c.(541-543)gCc>gTc	p.A181V	HTR1D_ENST00000314113.3_Missense_Mutation_p.A181V	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	181					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CTCCTCCTGGGCCTTGGCCTG	0.602000													20	46					0	0	0.012319	0	0
SPTLC2	9517	broad.mit.edu	37	14	77978671	77978671	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:77978671C>T	ENST00000216484.2	-	12	1838	c.1645G>A	c.(1645-1647)Gac>Aac	p.D549N		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	549						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AAGGGCCTGTCCAGTAGAGGT	0.493000													9	67					0	0	0.004482	0	0
RPTN	126638	broad.mit.edu	37	1	152128866	152128866	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152128866C>T	ENST00000316073.3	-	3	773	c.709G>A	c.(709-711)Gat>Aat	p.D237N		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	237	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TAATGAGAATCCTGAATTGGT	0.413000													60	106					0	0	0.014410	0	0
ENPP4	22875	broad.mit.edu	37	6	46111020	46111020	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:46111020C>T	ENST00000321037.4	+	4	1235	c.1005C>T	c.(1003-1005)gaC>gaT	p.D335D		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	335						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CAGTAGGTGACCATGGTTATG	0.358000													20	62					0	0	0.004656	0	0
PHLDB1	23187	broad.mit.edu	37	11	118513099	118513099	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:118513099C>T	ENST00000361417.2	+	14	3275	c.2864C>T	c.(2863-2865)tCc>tTc	p.S955F	PHLDB1_ENST00000534672.1_Intron|PHLDB1_ENST00000527898.1_Intron|PHLDB1_ENST00000356063.5_Intron|PHLDB1_ENST00000524713.1_Missense_Mutation_p.S98F	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	955										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)		GCCAAAGCTTCCCGTCAGCTG	0.637000													25	36					0	0	0.006320	0	0
PSD4	23550	broad.mit.edu	37	2	113950132	113950132	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:113950132C>T	ENST00000245796.6	+	6	1999	c.1804C>T	c.(1804-1806)Cgg>Tgg	p.R602W	PSD4_ENST00000441564.2_Missense_Mutation_p.R574W	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	602	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAGGGCTTCCGGAAGTCTGA	0.597000													8	21					0	0	0.004482	0	0
CDRT1	374286	broad.mit.edu	37	17	15519090	15519090	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:15519090G>A	ENST00000455584.2	-	8	1512	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F	CDRT1_ENST00000395906.3_Missense_Mutation_p.S180F																							TTTCTCAGGGGAAAAACACAC	0.473000													12	20					0	0	0.013537	0	0
GPR116	221395	broad.mit.edu	37	6	46821784	46821784	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:46821784T>C	ENST00000283296.7	-	21	4274	c.3986A>G	c.(3985-3987)gAa>gGa	p.E1329G	GPR116_ENST00000456426.2_Missense_Mutation_p.E1187G|GPR116_ENST00000362015.4_Missense_Mutation_p.E1309G|GPR116_ENST00000545669.1_3'UTR|GPR116_ENST00000265417.7_Missense_Mutation_p.E1329G	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1329					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GCTGGTTGCTTCTGGGGTGGA	0.498000													51	98					0	0	0.014410	0	0
MYH11	4629	broad.mit.edu	37	16	15835382	15835382	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:15835382C>T	ENST00000338282.6	-	22	2903	c.2797G>A	c.(2797-2799)Gag>Aag	p.E933K	MYH11_ENST00000396324.3_Missense_Mutation_p.E940K|MYH11_ENST00000300036.5_Missense_Mutation_p.E933K|MYH11_ENST00000452625.2_Missense_Mutation_p.E940K|AF001548.6_ENST00000577048.1_RNA|MYH11_ENST00000576790.1_Missense_Mutation_p.E933K	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	933					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCTTCCTCCTCCTCCAGGCGG	0.612000			T	CBFB	AML								19	88					0	0	0.008871	0	0
OSBPL3	26031	broad.mit.edu	37	7	24854706	24854706	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:24854706G>A	ENST00000313367.2	-	19	2595	c.2144C>T	c.(2143-2145)tCc>tTc	p.S715F	OSBPL3_ENST00000396431.1_Missense_Mutation_p.S684F|OSBPL3_ENST00000487020.1_5'UTR|OSBPL3_ENST00000353930.1_Missense_Mutation_p.S679F|OSBPL3_ENST00000431825.2_Missense_Mutation_p.S648F|OSBPL3_ENST00000352860.1_Missense_Mutation_p.S684F|OSBPL3_ENST00000409069.1_Missense_Mutation_p.S648F|OSBPL3_ENST00000396429.1_Missense_Mutation_p.S679F	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	715					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GCAGTAGCAGGAATCATCATG	0.502000													73	142					0	0	0.014410	0	0
PLCB4	5332	broad.mit.edu	37	20	9317805	9317805	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:9317805C>T	ENST00000378501.2	+	2	132	c.117C>T	c.(115-117)ttC>ttT	p.F39F	PLCB4_ENST00000378493.1_Silent_p.F39F|PLCB4_ENST00000414679.2_Silent_p.F39F|PLCB4_ENST00000278655.4_Silent_p.F39F|PLCB4_ENST00000378473.3_Silent_p.F39F|PLCB4_ENST00000334005.3_Silent_p.F39F|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	39					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.F39F(1)		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						ACTGCCTCTTCAAAGTGGATG	0.378000													7	52					0	0	0.010729	0	0
DNAH10	196385	broad.mit.edu	37	12	124364270	124364270	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:124364270C>T	ENST00000409039.3	+	49	8227	c.8202C>T	c.(8200-8202)ttC>ttT	p.F2734F		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2734					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)		TTGGAGACTTCCAGATGGCTC	0.512000													105	71					0	0	0.014410	0	0
GRM8	2918	broad.mit.edu	37	7	126173045	126173045	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:126173045G>A	ENST00000339582.2	-	9	3199	c.2391C>T	c.(2389-2391)ttC>ttT	p.F797F	GRM8_ENST00000358373.3_Silent_p.F797F|GRM8_ENST00000444921.2_Silent_p.F797F			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	797					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGATGGGGATGAAAGCTAACC	0.393000										HNSCC(24;0.065)			9	26					0	0	0.013537	0	0
APOB	338	broad.mit.edu	37	2	21234337	21234337	+	Silent	SNP	C	C	T	rs149787297		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:21234337C>T	ENST00000233242.1	-	26	5530	c.5403G>A	c.(5401-5403)ctG>ctA	p.L1801L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1801					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.L1801L(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CATTGTATTTCAGGTCACTGT	0.403000													142	527					0	0	0.014410	0	0
SLC4A8	9498	broad.mit.edu	37	12	51853830	51853830	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:51853830C>T	ENST00000453097.2	+	8	1168	c.951C>T	c.(949-951)gcC>gcT	p.A317A	SLC4A8_ENST00000535225.2_Silent_p.A264A|SLC4A8_ENST00000358657.3_Silent_p.A344A|SLC4A8_ENST00000514353.3_Silent_p.A264A|SLC4A8_ENST00000394856.1_Silent_p.A264A	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	317					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CCATTGTTGCCTTTGTGAGGC	0.458000													120	74					0	0	0.014410	0	0
VPS13B	157680	broad.mit.edu	37	8	100520086	100520086	+	Nonsense_Mutation	SNP	C	C	T	rs145741622		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:100520086C>T	ENST00000358544.2	+	28	4357	c.4246C>T	c.(4246-4248)Cga>Tga	p.R1416*	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Intron	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1416					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTTGTTGGTTCGACCCATCAG	0.453000													22	55					0	0	0.005443	0	0
POPDC3	64208	broad.mit.edu	37	6	105606598	105606598	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:105606598C>T	ENST00000254765.3	-	4	901	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000369120.2_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	208						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				AGACACATATCGACAATCAGT	0.413000													20	172					0	0	0.008871	0	0
RGPD3	653489	broad.mit.edu	37	2	107041049	107041049	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:107041049C>T	ENST00000409886.3	-	20	3461	c.3374G>A	c.(3373-3375)gGa>gAa	p.G1125E	RGPD3_ENST00000304514.7_Missense_Mutation_p.G1125E	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1125	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCTATCTGATCCAGAGAGGGG	0.433000													47	202					0	0	0.014410	0	0
PCDH18	54510	broad.mit.edu	37	4	138452772	138452772	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:138452772G>A	ENST00000344876.4	-	1	857	c.471C>T	c.(469-471)ccC>ccT	p.P157P	PCDH18_ENST00000507846.1_5'UTR|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Silent_p.P157P	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	157	Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CACTGTCCAGGGGAATGCGAG	0.443000													10	11					0	0	0.010729	0	0
MLIP	90523	broad.mit.edu	37	6	53989330	53989330	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:53989330G>A	ENST00000514921.1	+	3	392	c.279G>A	c.(277-279)gcG>gcA	p.A93A	MLIP_ENST00000509997.1_Silent_p.A41A|MLIP_ENST00000358276.5_Silent_p.A87A|MLIP_ENST00000502396.1_Silent_p.A104A|MLIP_ENST00000370877.2_Silent_p.A41A|MLIP_ENST00000274897.5_Silent_p.A93A|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370876.2_Silent_p.A31A			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	93						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GAGACCAAGCGAAATTGACTT	0.403000													22	36					0	0	0.002780	0	0
RYR3	6263	broad.mit.edu	37	15	34145783	34145783	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:34145783G>A	ENST00000389232.4	+	96	13769	c.13699G>A	c.(13699-13701)Gga>Aga	p.G4567R	RYR3_ENST00000415757.3_Missense_Mutation_p.G4562R|RYR3_ENST00000559917.1_3'UTR	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4567					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)		AGATCTCTACGGAGCAGAACG	0.488000													10	24					0	0	0.013537	0	0
MARCH10	162333	broad.mit.edu	37	17	60814506	60814506	+	Silent	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:60814506T>A	ENST00000544856.2	-	7	1098	c.720A>T	c.(718-720)ggA>ggT	p.G240G	MARCH10_ENST00000456609.2_Silent_p.G241G|MARCH10_ENST00000311269.5_Silent_p.G241G|MARCH10_ENST00000583600.1_Silent_p.G279G|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	241							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GACTATTTTTTCCTTGGAAGG	0.532000													90	31					0	0	0.014410	0	0
SDK1	221935	broad.mit.edu	37	7	3990647	3990647	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:3990647G>A	ENST00000404826.2	+	6	1079	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	SDK1_ENST00000389531.3_Missense_Mutation_p.E314K	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	314	Ig-like C2-type 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GACCACCTTGGAATGTATAGC	0.547000													17	26					0	0	0.007413	0	0
SRGAP3	9901	broad.mit.edu	37	3	9034636	9034636	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:9034636G>A	ENST00000383836.3	-	20	2939	c.2512C>T	c.(2512-2514)Ccc>Tcc	p.P838S	SRGAP3_ENST00000360413.3_Missense_Mutation_p.P814S	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	838					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TGCTCCGTGGGGGACTGGAGG	0.567000			T	RAF1	pilocytic astrocytoma								20	42					0	0	0.008871	0	0
DAW1	164781	broad.mit.edu	37	2	228769694	228769694	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:228769694G>A	ENST00000373666.2	+	8	1334	c.698G>A	c.(697-699)aGa>aAa	p.R233K	DAW1_ENST00000545118.1_Missense_Mutation_p.R218K|DAW1_ENST00000309931.2_Missense_Mutation_p.R233K					dynein assembly factor with WDR repeat domains 1																		TCAGGAGACAGAATCATCACG	0.408000													38	76					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179640842	179640842	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179640842G>A	ENST00000589042.1	-	28	5973	c.5749C>T	c.(5749-5751)Cct>Tct	p.P1917S	TTN_ENST00000460472.2_Missense_Mutation_p.P1871S|TTN_ENST00000360870.5_Missense_Mutation_p.P1917S|TTN_ENST00000359218.5_Missense_Mutation_p.P1871S|TTN_ENST00000342992.6_Missense_Mutation_p.P1917S|TTN_ENST00000342175.6_Missense_Mutation_p.P1871S|TTN_ENST00000591111.1_Missense_Mutation_p.P1917S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1635	Ig-like 9.						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)			ACACCTTCAGGATTTTCCGCG	0.453000													28	136					0	0	0.008361	0	0
OR4C15	81309	broad.mit.edu	37	11	55321940	55321940	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:55321940G>A	ENST00000314644.2	+	1	158	c.158G>A	c.(157-159)gGa>gAa	p.G53E		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTTTCCTTGGGAAACATGCAA	0.358000										HNSCC(20;0.049)			29	83					0	0	0.012213	0	0
GPR42	2866	broad.mit.edu	37	19	35862963	35862963	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:35862963C>T	ENST00000454971.1	+	2	903	c.702C>T	c.(700-702)ttC>ttT	p.F234F	GPR42_ENST00000597214.1_Silent_p.F234F					G protein-coupled receptor 42 (gene/pseudogene)											endometrium(1)|kidney(1)|skin(2)	4	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TGCTCAACTTCCTTGTCTGCT	0.642000													17	17					0	0	0.004990	0	0
PODXL2	50512	broad.mit.edu	37	3	127358261	127358261	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:127358261C>T	ENST00000342480.6	+	2	283	c.244C>T	c.(244-246)Ccc>Tcc	p.P82S		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	82					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CTCAGGCTTCCCCAGCGAAGA	0.602000													7	20					0	0	0.003080	0	0
FOLH1	2346	broad.mit.edu	37	11	49204776	49204776	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:49204776C>T	ENST00000340334.7	-	8	1168	c.800G>A	c.(799-801)gGa>gAa	p.G267E	FOLH1_ENST00000356696.3_Missense_Mutation_p.G282E|FOLH1_ENST00000533034.1_Missense_Mutation_p.G267E|FOLH1_ENST00000256999.2_Missense_Mutation_p.G282E|FOLH1_ENST00000343844.4_5'UTR	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	282					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CTCTGCAATTCCACGCCTATA	0.353000													9	86					0	0	0.010729	0	0
NKX2-2	4821	broad.mit.edu	37	20	21494126	21494126	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:21494126A>G	ENST00000377142.4	-	1	538	c.182T>C	c.(181-183)cTg>cCg	p.L61P		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	61					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGGGTTCTTCAGGGGCAGGCT	0.677000													10	21					0	0	0.006214	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519169	113519169	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:113519169C>T	ENST00000284601.3	-	4	2046	c.1978G>A	c.(1978-1980)Gaa>Aaa	p.E660K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	660					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCCTGACTTTCCAGAACATTC	0.368000													23	89					0	0	0.014323	0	0
CSNK2A1	1457	broad.mit.edu	37	20	468211	468211	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:468211C>T	ENST00000217244.3	-	12	1208	c.833G>A	c.(832-834)cGa>cAa	p.R278Q	CSNK2A1_ENST00000349736.5_Missense_Mutation_p.R278Q|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.R278Q|CSNK2A1_ENST00000400217.1_Missense_Mutation_p.R142Q	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	278	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	p.R278Q(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			CCATCGCTTTCGAGAGTGTCT	0.507000													9	56					0	0	0.008291	0	0
GALNT15	117248	broad.mit.edu	37	3	16216774	16216774	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:16216774C>T	ENST00000339732.5	+	1	619	c.116C>T	c.(115-117)aCc>aTc	p.T39I	GALNT15_ENST00000437509.1_Missense_Mutation_p.T39I	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		CCCCACCACACCCTGCACCAG	0.597000													16	60					0	0	0.003163	0	0
OR6K6	128371	broad.mit.edu	37	1	158725001	158725001	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158725001C>T	ENST00000368144.2	+	1	492	c.396C>T	c.(394-396)ttC>ttT	p.F132F		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TGTACTTTTTCCACTCACTTG	0.493000													14	56					0	0	0.002450	0	0
STK31	56164	broad.mit.edu	37	7	23825160	23825160	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:23825160G>A	ENST00000354639.3	+	18	2607	c.2143G>A	c.(2143-2145)Gaa>Aaa	p.E715K	STK31_ENST00000433467.2_Missense_Mutation_p.E738K|STK31_ENST00000428484.1_Missense_Mutation_p.E715K|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.E738K	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	738	Protein kinase.			Y -> C (in Ref. 2; AAK17193).			ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCCCATGAAGGAACTTAGCAG	0.418000													20	86					0	0	0.012319	0	0
BRINP3	339479	broad.mit.edu	37	1	190250722	190250722	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:190250722C>T	ENST00000367462.3	-	3	626	c.395G>A	c.(394-396)gGg>gAg	p.G132E	RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Intron	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		132						extracellular region		p.G132E(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GAAATGTGTCCCATATTTCTT	0.453000													14	40					0	0	0.003163	0	0
CYP7B1	9420	broad.mit.edu	37	8	65517309	65517309	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:65517309C>T	ENST00000310193.3	-	5	1336	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	388					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GTCTCCCTTTCGCACACAGTA	0.453000													25	51					0	0	0.007291	0	0
GRIK3	2899	broad.mit.edu	37	1	37337848	37337848	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:37337848G>A	ENST00000373091.3	-	4	689	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	GRIK3_ENST00000373093.4_Missense_Mutation_p.R225W	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	225					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CGGAATTCCCGGCCTCGCTTC	0.592000													16	31					0	0	0.004990	0	0
OR4S1	256148	broad.mit.edu	37	11	48328680	48328680	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:48328680C>T	ENST00000319988.1	+	1	906	c.906C>T	c.(904-906)gtC>gtT	p.V302V		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGTTTAGGGTCAAGAGGAGCT	0.418000													13	15					0	0	0.001855	0	0
ST18	9705	broad.mit.edu	37	8	53073993	53073993	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:53073993G>A	ENST00000276480.7	-	14	2219	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	512						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGCGTTTACCGAAAACTTGGG	0.438000													11	60					0	0	0.010729	0	0
TMPPE	643853	broad.mit.edu	37	3	33135527	33135527	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:33135527G>A	ENST00000342462.4	-	2	351	c.161C>T	c.(160-162)tCg>tTg	p.S54L	GLB1_ENST00000307363.5_Intron|TMPPE_ENST00000416695.2_Intron|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307377.8_Intron|GLB1_ENST00000445488.2_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	54						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						GAGCAAGAGCGAGTTGACAAA	0.572000													6	18					0	0	0.003080	0	0
BEND2	139105	broad.mit.edu	37	X	18221903	18221903	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:18221903G>A	ENST00000380033.4	-	5	757	c.625C>T	c.(625-627)Ccc>Tcc	p.P209S	BEND2_ENST00000380030.3_Missense_Mutation_p.P209S	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	209								p.E204fs*66(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ACAATTCTGGGATATGATAAA	0.488000													51	33					0	0	0.014410	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688885	26688885	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:26688885C>T	ENST00000529632.2	+	2	804	c.608C>T	c.(607-609)tCc>tTc	p.S203F	SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.S203F|SEZ6L_ENST00000343706.4_Missense_Mutation_p.S203F|SEZ6L_ENST00000248933.6_Missense_Mutation_p.S203F|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.S203F	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	203						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTGCAAATCTCCCCCTTCACT	0.667000													16	81					0	0	0.006122	0	0
NBEAL1	65065	broad.mit.edu	37	2	204031988	204031988	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:204031988C>T	ENST00000449802.1	+	37	6148	c.5815C>T	c.(5815-5817)Cga>Tga	p.R1939*		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1939							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTCTCAAATTCGAGAGATTCA	0.368000													112	215					0	0	0.014410	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420921	55420921	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:55420921G>A	ENST00000242994.3	+	2	1076	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	233					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AAGAGTTTGGGAGAATCGTCC	0.517000													42	17					0	0	0.008740	0	0
PKHD1	5314	broad.mit.edu	37	6	51935805	51935805	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:51935805G>A	ENST00000371117.3	-	9	941	c.667_splice	c.e9+1	p.I222_splice	PKHD1_ENST00000340994.4_Splice_Site_p.I222_splice	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	222	IPT/TIG 2.		I -> V (in ARPKD).		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)					CTAACAGACCGATGTAGTCGC	0.403000													13	81					0	0	0.001855	0	0
COL1A2	1278	broad.mit.edu	37	7	94051242	94051242	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:94051242G>A	ENST00000297268.6	+	39	2852	c.2381G>A	c.(2380-2382)cGg>cAg	p.R794Q		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	794			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GCTGCTGGACGGACTGGTCCC	0.458000										HNSCC(75;0.22)			11	49					0	0	0.001855	0	0
SELE	6401	broad.mit.edu	37	1	169698761	169698761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:169698761G>A	ENST00000333360.7	-	6	908	c.769C>T	c.(769-771)Caa>Taa	p.Q257*	SELE_ENST00000367776.1_Nonsense_Mutation_p.Q257*|SELE_ENST00000367777.1_Nonsense_Mutation_p.Q257*|SELE_ENST00000367779.4_Nonsense_Mutation_p.Q257*|SELE_ENST00000367775.1_Nonsense_Mutation_p.Q195*|SELE_ENST00000367780.4_Nonsense_Mutation_p.Q195*|SELE_ENST00000367774.1_Nonsense_Mutation_p.Q257*|SELE_ENST00000367782.4_Nonsense_Mutation_p.Q257*|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Nonsense_Mutation_p.Q257*	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	257	Sushi 2.		Q -> P (in dbSNP:rs3917422).		actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CCAGGGTTTTGGAAACATTCC	0.438000													34	81					0	0	0.004289	0	0
ITPRIPL2	162073	broad.mit.edu	37	16	19126433	19126433	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:19126433C>T	ENST00000381440.3	+	1	1180	c.650C>T	c.(649-651)cCa>cTa	p.P217L	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	217						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCACCCTCACCATCGGGGGCC	0.697000											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	28					0	0	0.004007	0	0
GRIA1	2890	broad.mit.edu	37	5	153190777	153190777	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:153190777G>A	ENST00000285900.5	+	16	3056	c.2713G>A	c.(2713-2715)Gga>Aga	p.G905R	GRIA1_ENST00000521843.2_Missense_Mutation_p.G836R|GRIA1_ENST00000518142.1_Missense_Mutation_p.G825R|GRIA1_ENST00000340592.5_Missense_Mutation_p.G905R|GRIA1_ENST00000518783.1_Missense_Mutation_p.G915R|GRIA1_ENST00000448073.4_Missense_Mutation_p.G915R	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	905					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGGAGCCACGGGATTGTAACT	0.557000													5	18					0	0	0.003080	0	0
MAPK13	5603	broad.mit.edu	37	6	36106768	36106768	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:36106768G>A	ENST00000211287.4	+	11	1216	c.954G>A	c.(952-954)acG>acA	p.T318T	MAPK13_ENST00000373766.5_3'UTR|MAPK13_ENST00000373761.6_Silent_p.T308T|MAPK13_ENST00000373759.1_3'UTR	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	318					cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						AGGAAGAGACGGAGGCCCAGC	0.602000													10	47					0	0	0.013537	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712038	140712038	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140712038G>A	ENST00000517417.1	+	1	1787	c.1787G>A	c.(1786-1788)aGa>aAa	p.R596K	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R596K	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGTGGACAGAGACTCGGGC	0.697000													6	34					0	0	0.001168	0	0
LDLRAD3	143458	broad.mit.edu	37	11	36248875	36248875	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:36248875C>T	ENST00000315571.5	+	5	716	c.695C>T	c.(694-696)aCc>aTc	p.T232I	LDLRAD3_ENST00000524419.1_Missense_Mutation_p.T222I|LDLRAD3_ENST00000528989.1_Missense_Mutation_p.T183I|LDLRAD3_ENST00000529759.1_3'UTR	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	232						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				TGCAACGTCACCTACAACGTC	0.627000													16	52					0	0	0.007413	0	0
ANK2	287	broad.mit.edu	37	4	114278605	114278605	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:114278605C>T	ENST00000357077.4	+	38	8884	c.8831C>T	c.(8830-8832)aCc>aTc	p.T2944I	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.T2911I|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2911					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)		GAAAGCAAAACCCAAACAGAT	0.408000													49	33					0	0	0.014410	0	0
NCF4	4689	broad.mit.edu	37	22	37273719	37273719	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:37273719G>A	ENST00000248899.6	+	10	1058	c.874G>A	c.(874-876)Ggg>Agg	p.G292R	NCF4_ENST00000397147.4_3'UTR	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	292					cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						GGACGCTGAGGGGGATCTGGT	0.602000													14	42					0	0	0.003163	0	0
OTX2	5015	broad.mit.edu	37	14	57268766	57268766	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:57268766C>T	ENST00000339475.5	-	5	857	c.581G>A	c.(580-582)aGt>aAt	p.S194N	OTX2_ENST00000555006.1_Missense_Mutation_p.S186N|OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000408990.3_Missense_Mutation_p.S186N	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	186					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ATATCCTTGACTATAACCTGA	0.537000													28	30					0	0	0.005443	0	0
FAM73A	374986	broad.mit.edu	37	1	78272765	78272765	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:78272765C>T	ENST00000370791.3	+	5	648	c.616C>T	c.(616-618)Cca>Tca	p.P206S	FAM73A_ENST00000443751.2_Missense_Mutation_p.P168S	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	206						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TGTGACTACTCCAGAGAACTT	0.333000													23	50					0	0	0.004656	0	0
ITGA4	3676	broad.mit.edu	37	2	182399556	182399556	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:182399556G>A	ENST00000397033.2	+	27	3327	c.2897G>A	c.(2896-2898)gGa>gAa	p.G966E		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	966					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CTACTGGAAGGACTACATCAT	0.323000													13	40					0	0	0.004007	0	0
DNAH6	1768	broad.mit.edu	37	2	84811170	84811170	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:84811170G>A	ENST00000389394.3	+	15	2414	c.2277G>A	c.(2275-2277)aaG>aaA	p.K759K	DNAH6_ENST00000398278.2_Silent_p.K759K|DNAH6_ENST00000237449.6_Silent_p.K759K	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	759	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AAATGTACAAGCTTATGGAAC	0.383000													24	46					0	0	0.002780	0	0
NCF2	4688	broad.mit.edu	37	1	183546838	183546838	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:183546838C>T	ENST00000413720.1	-	3	536	c.262G>A	c.(262-264)Gat>Aat	p.D88N	NCF2_ENST00000367536.1_Missense_Mutation_p.D88N|NCF2_ENST00000418089.1_Missense_Mutation_p.D88N|NCF2_ENST00000367535.3_Missense_Mutation_p.D88N	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	88					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						ATAGCCAAATCATATCTGCAG	0.443000													34	64					0	0	0.003271	0	0
LRP1	4035	broad.mit.edu	37	12	57604507	57604507	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:57604507C>T	ENST00000243077.3	+	83	13227	c.12761C>T	c.(12760-12762)cCc>cTc	p.P4254L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4254	EGF-like 18.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCAGGCATGCCCACGTGCCGG	0.657000													52	40					0	0	0.014410	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166621	180166621	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:180166621G>A	ENST00000307832.2	-	1	478	c.438C>T	c.(436-438)atC>atT	p.I146I		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCAGGAGGCGATAGCCAGGG	0.572000													7	15					0	0	0.004482	0	0
HDAC9	9734	broad.mit.edu	37	7	18624924	18624924	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:18624924C>T	ENST00000406451.3	+	3	193	c.43C>T	c.(43-45)Cct>Tct	p.P15S	HDAC9_ENST00000406072.1_Missense_Mutation_p.P43S|HDAC9_ENST00000417496.2_Missense_Mutation_p.P57S|HDAC9_ENST00000524023.1_5'UTR|HDAC9_ENST00000428307.2_Missense_Mutation_p.P15S|HDAC9_ENST00000441542.2_Missense_Mutation_p.P15S|HDAC9_ENST00000401921.1_Missense_Mutation_p.P15S|HDAC9_ENST00000456174.2_5'UTR|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000405010.3_Missense_Mutation_p.P15S|HDAC9_ENST00000432645.2_Missense_Mutation_p.P15S	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	15					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)	GTCAGAAGTTCCTGTGGGCCT	0.478000													28	147					0	0	0.012213	0	0
PAPPA	5069	broad.mit.edu	37	9	119065059	119065059	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:119065059C>T	ENST00000328252.3	+	10	3346	c.2977C>T	c.(2977-2979)Cat>Tat	p.H993Y	PAPPA_ENST00000534838.1_Missense_Mutation_p.H31Y|RP11-45A16.4_ENST00000451100.1_RNA	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	993					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGCTATTTCCATGATGGTGA	0.453000													16	32					0	0	0.004990	0	0
WASF3	10810	broad.mit.edu	37	13	27216450	27216450	+	Silent	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:27216450C>A	ENST00000361042.4	+	3	268	c.43C>A	c.(43-45)Cgg>Agg	p.R15R	WASF3_ENST00000335327.5_Silent_p.R15R|WASF3_ENST00000496788.1_3'UTR			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	15					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GCACTTGTGCCGGGGAGCTCT	0.448000													23	51					4.72057e-08	5.14567e-08	0.003954	1	0
GGH	8836	broad.mit.edu	37	8	63927919	63927919	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:63927919G>A	ENST00000260118.6	-	9	1331	c.929C>T	c.(928-930)tCa>tTa	p.S310L		NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	310	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	TTGCTGAAATGAAGAAATATT	0.303000													4	23					0	0	0.000602	0	0
KIF3C	3797	broad.mit.edu	37	2	26151896	26151896	+	Missense_Mutation	SNP	G	G	A	rs13030360		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:26151896G>A	ENST00000264712.3	-	8	2912	c.2333C>T	c.(2332-2334)tCc>tTc	p.S778F	KIF3C_ENST00000405914.1_Missense_Mutation_p.S778F	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	778	Globular (Potential).				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGGCCAGGGAGGCATGTGT	0.607000													31	61					0	0	0.005524	0	0
CAMK1D	57118	broad.mit.edu	37	10	12803023	12803023	+	Missense_Mutation	SNP	C	C	T	rs143417427	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:12803023C>T	ENST00000378847.3	+	4	713	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	CAMK1D_ENST00000378845.1_Missense_Mutation_p.R126C	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	126	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.R126S(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CACTCTGATCCGCCAAGTCTT	0.527000													38	118					0	0	0.011902	0	0
POU6F2	11281	broad.mit.edu	37	7	39503873	39503873	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:39503873T>C	ENST00000559001.1	+	8	1600	c.1499T>C	c.(1498-1500)cTt>cCt	p.L500P	POU6F2_ENST00000403058.1_Missense_Mutation_p.L555P|POU6F2_ENST00000518318.2_Intron			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	555	POU-specific.		L -> M (in dbSNP:rs4992268).		central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						AACCCTGGCCTTTTGTATCCT	0.547000													31	77					0	0	0.012213	0	0
BRD7	29117	broad.mit.edu	37	16	50402112	50402112	+	Silent	SNP	G	G	A	rs145220538	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:50402112G>A	ENST00000394688.3	-	2	306	c.147C>T	c.(145-147)ttC>ttT	p.F49F	BRD7_ENST00000401491.3_5'UTR|BRD7_ENST00000394689.2_Silent_p.F49F			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	49	Lys-rich.				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TTTTGTCTTCGAAGAGGCTGG	0.498000													21	84					0	0	0.014323	0	0
ZFP14	57677	broad.mit.edu	37	19	36832048	36832048	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:36832048G>A	ENST00000270001.7	-	5	795	c.680C>T	c.(679-681)cCc>cTc	p.P227L		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					ACATTCATAGGGTTTCTCACC	0.438000													13	35					0	0	0.013537	0	0
BPTF	2186	broad.mit.edu	37	17	65907764	65907764	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:65907764C>T	ENST00000321892.4	+	13	4203	c.4142C>T	c.(4141-4143)tCa>tTa	p.S1381L	BPTF_ENST00000424123.3_Missense_Mutation_p.S1242L|BPTF_ENST00000306378.6_Missense_Mutation_p.S1255L|BPTF_ENST00000335221.5_Missense_Mutation_p.S1381L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1381					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCTTTACATTCATCAGTGCCT	0.408000													43	20					0	0	0.007835	0	0
PDE7B	27115	broad.mit.edu	37	6	136495007	136495007	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:136495007C>T	ENST00000308191.6	+	9	1087	c.784C>T	c.(784-786)Cat>Tat	p.H262Y	RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	262	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	GCTTCTTGCTCATTTGCCAAA	0.418000													14	45					0	0	0.003163	0	0
DEF6	50619	broad.mit.edu	37	6	35277517	35277517	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:35277517G>A	ENST00000316637.5	+	2	172	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	DEF6_ENST00000542066.1_5'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	56						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GAACACTTCCGAGATGATGAT	0.572000													16	38					0	0	0.004007	0	0
PHKG2	5261	broad.mit.edu	37	16	30762575	30762575	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:30762575C>T	ENST00000563588.1	+	3	483	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	RP11-2C24.4_ENST00000483578.1_lincRNA|PHKG2_ENST00000424889.3_Missense_Mutation_p.R82C|PHKG2_ENST00000328273.7_Missense_Mutation_p.R82C	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	82	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)|skin(1)	2			Colorectal(24;0.198)			ACACATCCTTCGCCAGGTCGC	0.622000													20	24					0	0	0.014323	0	0
SYT16	83851	broad.mit.edu	37	14	62536387	62536387	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:62536387A>C	ENST00000430451.2	+	2	787	c.590A>C	c.(589-591)cAa>cCa	p.Q197P	RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Missense_Mutation_p.Q197P	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	197										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GTGATCAAACAATTTGAGATT	0.488000													52	68					0	0	0.014410	0	0
KRT28	162605	broad.mit.edu	37	17	38950178	38950178	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:38950178C>T	ENST00000306658.7	-	6	1164	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	367	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TTCTGGCCCTCGGTCTCGGTT	0.552000													90	64					0	0	0.014410	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52115667	52115667	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:52115667C>T	ENST00000222107.4	-	9	1611	c.1473G>A	c.(1471-1473)agG>agA	p.R491R	SIGLEC5_ENST00000599649.1_Silent_p.R491R|SIGLEC5_ENST00000534261.2_Silent_p.R491R|SIGLEC5_ENST00000570106.2_Silent_p.R491R|SIGLEC5_ENST00000429354.3_Silent_p.R491R			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	491					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		AGGGCTTCTTCCTGGAACCCT	0.483000													24	46					0	0	0.014323	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204228696	204228696	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:204228696G>A	ENST00000272203.3	-	8	1013	c.697C>T	c.(697-699)Ccg>Tcg	p.P233S	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.P253S	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	233	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GCTTTCACCGGAGGCTCTTTC	0.647000													19	45					0	0	0.014323	0	0
PGBD1	84547	broad.mit.edu	37	6	28264676	28264676	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:28264676C>T	ENST00000405948.2	+	5	1146	c.726C>T	c.(724-726)ctC>ctT	p.L242L	PGBD1_ENST00000259883.3_Silent_p.L242L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	242					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GGAGGAACCTCTGTGGGAACT	0.512000													23	49					0	0	0.003954	0	0
ATP4A	495	broad.mit.edu	37	19	36050758	36050758	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:36050758G>A	ENST00000262623.3	-	7	1033	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	335					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CGATGGCCATGAAGAAGACCA	0.602000													6	27					0	0	0.001168	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55108198	55108198	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:55108198C>T	ENST00000474759.1	+	38	3289	c.3241C>T	c.(3241-3243)Ctg>Ttg	p.L1081L	CACNA2D3_ENST00000415676.2_Silent_p.L1081L|CACNA2D3_ENST00000490478.1_Silent_p.L987L|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000288197.5_Silent_p.L1081L	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	1081						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AGTCCTCCTTCTGCTCCCTCT	0.502000													31	78					0	0	0.004878	0	0
GTPBP1	9567	broad.mit.edu	37	22	39120355	39120355	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:39120355C>T	ENST00000216044.5	+	6	1245	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	338					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					CCGGAAGATCCCCGTGCTGGT	0.537000													9	47					0	0	0.008291	0	0
APOB	338	broad.mit.edu	37	2	21230801	21230801	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:21230801G>A	ENST00000233242.1	-	26	9066	c.8939C>T	c.(8938-8940)tCc>tTc	p.S2980F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2980					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAAGTTGAGGGAGCCAGATTC	0.428000													95	356					0	0	0.014410	0	0
SNX27	81609	broad.mit.edu	37	1	151638458	151638458	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:151638458C>T	ENST00000368843.3	+	6	1076	c.956C>T	c.(955-957)gCc>gTc	p.A319V	SNX27_ENST00000482791.1_3'UTR|SNX27_ENST00000458013.2_Missense_Mutation_p.A319V|SNX27_ENST00000368838.1_Missense_Mutation_p.A226V	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	319	Ras-associating.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AATTACTTTGCCTTATTTGAA	0.373000													18	31					0	0	0.014323	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297758	139297758	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:139297758C>T	ENST00000406164.1	-	4	701	c.138G>A	c.(136-138)tgG>tgA	p.W46*	RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000339837.5_Nonsense_Mutation_p.W46*|NMNAT3_ENST00000413939.2_Intron|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000511444.1_Nonsense_Mutation_p.W46*|NMNAT3_ENST00000512391.1_Nonsense_Mutation_p.W83*|NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000296202.7_Nonsense_Mutation_p.W83*			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	83					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						GCTCACTCTCCCAAGGGTCCA	0.592000													17	22					0	0	0.006122	0	0
ATP8B3	148229	broad.mit.edu	37	19	1802530	1802530	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:1802530C>T	ENST00000539485.1	-	11	1252	c.1019G>A	c.(1018-1020)aGg>aAg	p.R340K	ATP8B3_ENST00000525591.1_Missense_Mutation_p.R287K|ATP8B3_ENST00000526092.1_Missense_Mutation_p.R287K|ATP8B3_ENST00000310127.6_Missense_Mutation_p.R340K			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	340					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)		GTTGCGAATCCTGCAGCCTCG	0.562000													5	25					0	0	0.000602	0	0
IGHV1-8	28472	broad.mit.edu	37	14	106539350	106539350	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:106539350C>T	ENST00000390599.2	-	0	141																											CACCTCAGCCCCAGACTGCAC	0.542000													35	20					0	0	0.008740	0	0
PRPF8	10594	broad.mit.edu	37	17	1579318	1579318	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:1579318C>T	ENST00000572621.1	-	17	2848	c.2583G>A	c.(2581-2583)agG>agA	p.R861R	PRPF8_ENST00000304992.6_Silent_p.R861R			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	861						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CTAGCTCCTCCCTCTGAGACT	0.537000													7	15					0	0	0.001984	0	0
RGPD4	285190	broad.mit.edu	37	2	108487731	108487731	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:108487731G>A	ENST00000408999.3	+	20	3348	c.3271G>A	c.(3271-3273)Gag>Aag	p.E1091K	RGPD4_ENST00000354986.4_Missense_Mutation_p.E1091K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1091	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCTCAAAAACGAGGTCAATGG	0.408000													85	284					0	0	0.014410	0	0
ASNS	440	broad.mit.edu	37	7	97488238	97488238	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:97488238G>A	ENST00000175506.4	-	7	1231	c.703C>T	c.(703-705)Ctc>Ttc	p.L235F	ASNS_ENST00000394308.3_Missense_Mutation_p.L235F|ASNS_ENST00000444334.1_Missense_Mutation_p.L214F|ASNS_ENST00000437628.1_Missense_Mutation_p.L152F|ASNS_ENST00000422745.1_Missense_Mutation_p.L214F|ASNS_ENST00000455086.1_Missense_Mutation_p.L152F|ASNS_ENST00000394309.3_Missense_Mutation_p.L235F	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	235	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGGATCCTGAGGTTGTTCTTC	0.338000													33	70					0	0	0.004289	0	0
DNAH7	56171	broad.mit.edu	37	2	196681402	196681402	+	Silent	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:196681402A>G	ENST00000312428.6	-	51	9811	c.9711T>C	c.(9709-9711)ctT>ctC	p.L3237L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3237					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACAGGATGAAAAGGTTAATAA	0.328000													4	30					0	0	0.000602	0	0
TNC	3371	broad.mit.edu	37	9	117819660	117819660	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:117819660G>A	ENST00000350763.4	-	15	4762	c.4351C>T	c.(4351-4353)Ccc>Tcc	p.P1451S	TNC_ENST00000542877.1_Missense_Mutation_p.P1087S|TNC_ENST00000340094.3_Missense_Mutation_p.P1087S|TNC_ENST00000535648.1_Missense_Mutation_p.P1087S|TNC_ENST00000345230.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000423613.2_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.P1360S	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1451	Fibronectin type-III 10.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AAGCTCTCGGGAGTTATGTCA	0.388000													38	147					0	0	0.011902	0	0
SSPO	23145	broad.mit.edu	37	7	149483309	149483309	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:149483309G>A	ENST00000378016.2	+	0	3377							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTCTGGGATGGAGATCAGGCC	0.637000													4	7					0	0	0.001168	0	0
MUC16	94025	broad.mit.edu	37	19	9070394	9070394	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9070394C>T	ENST00000397910.4	-	3	17255	c.17052G>A	c.(17050-17052)acG>acA	p.T5684T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5686	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						GAGGTGAACTCGTTACGGGCT	0.502000													9	13					0	0	0.008291	0	0
ALOX12B	242	broad.mit.edu	37	17	7980338	7980338	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:7980338C>T	ENST00000319144.4	-	9	1505	c.1245G>A	c.(1243-1245)agG>agA	p.R415R	ALOX12B_ENST00000577351.1_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	415	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						TGGGCAGGTTCCTCAGCAAGG	0.632000										Multiple Myeloma(8;0.094)			7	8					0	0	0.003080	0	0
ACAN	176	broad.mit.edu	37	15	89400802	89400802	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:89400802G>A	ENST00000439576.2	+	12	5360	c.4986G>A	c.(4984-4986)gtG>gtA	p.V1662V	ACAN_ENST00000352105.7_Silent_p.V1662V|ACAN_ENST00000559004.1_Silent_p.V1662V|ACAN_ENST00000561243.1_Silent_p.V1662V	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1662					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TTTCCCTAGTGGATTCTACAT	0.527000													10	92					0	0	0.006214	0	0
OR52B2	255725	broad.mit.edu	37	11	6190735	6190735	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:6190735G>A	ENST00000530810.1	-	1	903	c.822C>T	c.(820-822)gtC>gtT	p.V274V	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAAGATATGGACATGTTGAG	0.463000													15	27					0	0	0.003163	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919780	142919780	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142919780C>T	ENST00000408947.3	+	1	651	c.609C>T	c.(607-609)ttC>ttT	p.F203F		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	203					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					TGGGGATCTTCGTTCCTCTGA	0.502000													28	45					0	0	0.007291	0	0
C1RL	51279	broad.mit.edu	37	12	7252533	7252533	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:7252533G>A	ENST00000266542.4	-	4	672	c.580C>T	c.(580-582)Cac>Tac	p.H194Y	C1RL_ENST00000545280.1_Missense_Mutation_p.H78Y|C1RL_ENST00000544702.1_Missense_Mutation_p.H194Y	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	194					complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCCTGGCAGTGGTTCTGGACC	0.597000													27	16					0	0	0.009535	0	0
PHF20L1	51105	broad.mit.edu	37	8	133844532	133844532	+	Silent	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:133844532T>A	ENST00000395386.2	+	15	2096	c.1797T>A	c.(1795-1797)tcT>tcA	p.S599S	PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Silent_p.S574S	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	599							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GGTGCTCTTCTCCACTAACTC	0.393000													27	70					0	0	0.012213	0	0
PODXL	5420	broad.mit.edu	37	7	131195814	131195814	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:131195814C>T	ENST00000541194.1	-	2	742	c.485G>A	c.(484-486)gGg>gAg	p.G162E	PODXL_ENST00000537928.1_Missense_Mutation_p.G160E|PODXL_ENST00000378555.3_Missense_Mutation_p.G160E|PODXL_ENST00000322985.9_Missense_Mutation_p.G160E	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	160	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GCTGCTTTTCCCCCCAGAGTT	0.522000													20	153					0	0	0.003330	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89100554	89100554	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:89100554C>T	ENST00000393525.3	+	0	1089																											gtatcttttcctGCTGTCTCT	0.338000													5	17					0	0	0.000602	0	0
NFKBIA	4792	broad.mit.edu	37	14	35872485	35872485	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:35872485G>A	ENST00000216797.5	-	3	519	c.418C>T	c.(418-420)Cga>Tga	p.R140*	NFKBIA_ENST00000557389.1_Nonsense_Mutation_p.R50*|NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557140.1_Nonsense_Mutation_p.R140*	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	140					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		CGAAAGTCTCGGAGCTCAGGA	0.587000													13	67					0	0	0.003163	0	0
SCN3A	6328	broad.mit.edu	37	2	165984493	165984493	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:165984493C>T	ENST00000360093.3	-	18	3532	c.3041G>A	c.(3040-3042)gGa>gAa	p.G1014E	SCN3A_ENST00000409101.3_Missense_Mutation_p.G965E|SCN3A_ENST00000283254.7_Missense_Mutation_p.G1014E	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1014						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)	ATAATCAATTCCCTTTTGCAT	0.363000													20	26					0	0	0.008871	0	0
SDK1	221935	broad.mit.edu	37	7	4304908	4304908	+	Silent	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:4304908G>T	ENST00000404826.2	+	45	6673	c.6534G>T	c.(6532-6534)gcG>gcT	p.A2178A	SDK1_ENST00000466611.1_3'UTR|SDK1_ENST00000389531.3_Silent_p.A2158A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	2178					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCTCCGAGGCGGGCGCGCAGC	0.721000													10	12					3.07112e-06	3.3368e-06	0.010729	1	0
OR5H1	26341	broad.mit.edu	37	3	97851849	97851849	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:97851849C>T	ENST00000354565.2	+	1	308	c.308C>T	c.(307-309)tCg>tTg	p.S103L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S103L(1)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CAGTTTTTTTCGTTTGCAATC	0.393000													44	92					0	0	0.011902	0	0
IL1F10	84639	broad.mit.edu	37	2	113832355	113832355	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:113832355C>T	ENST00000393197.2	+	3	595	c.174C>T	c.(172-174)ttC>ttT	p.F58F	IL1F10_ENST00000341010.2_Silent_p.F58F|IL1F10_ENST00000337569.3_Silent_p.F58F	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	58						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						TCCCCATTTTCCTGGGGATCC	0.582000													19	49					0	0	0.010504	0	0
SLC15A2	6565	broad.mit.edu	37	3	121613360	121613360	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:121613360C>T	ENST00000489711.1	+	1	425	c.37C>T	c.(37-39)Ctt>Ttt	p.L13F	SLC15A2_ENST00000295605.2_Missense_Mutation_p.L13F	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	13					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CAAGGAAACTCTTTTTTCACC	0.483000													51	112					0	0	0.014410	0	0
GCSAML	148823	broad.mit.edu	37	1	247712513	247712513	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:247712513G>A	ENST00000366491.2	+	4	517	c.20G>A	c.(19-21)cGa>cAa	p.R7Q	GCSAML_ENST00000366488.4_Missense_Mutation_p.R7Q|GCSAML_ENST00000536561.1_Missense_Mutation_p.R7Q|GCSAML_ENST00000366489.1_Missense_Mutation_p.R7Q|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366490.3_Missense_Mutation_p.E128K|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron					germinal center-associated, signaling and motility-like																		TATCTCCTGCGAAAACTCAGG	0.463000													16	41					0	0	0.004007	0	0
TNR	7143	broad.mit.edu	37	1	175335252	175335252	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:175335252G>A	ENST00000367674.1	-	11	2784	c.2076C>T	c.(2074-2076)ctC>ctT	p.L692L	TNR_ENST00000263525.2_Silent_p.L692L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	692	Fibronectin type-III 5.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.L692L(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTGTCACCATGAGGTCTCGGG	0.517000													13	23					0	0	0.001855	0	0
DDX60	55601	broad.mit.edu	37	4	169158547	169158547	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:169158547C>T	ENST00000393743.3	-	32	4592	c.4301G>A	c.(4300-4302)gGg>gAg	p.G1434E		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1434							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TCCAGCAAACCCCATAGGATT	0.338000													8	15					0	0	0.006214	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716900	142716900	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:142716900G>A	ENST00000381779.4	-	2	2250	c.2025C>T	c.(2023-2025)acC>acT	p.T675T	SLITRK4_ENST00000356928.1_Silent_p.T675T|SLITRK4_ENST00000338017.4_Silent_p.T675T	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	675						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTTTTATTGGTTTTGTGGT	0.483000													52	23					0	0	0.014410	0	0
DOCK3	1795	broad.mit.edu	37	3	51263190	51263190	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:51263190G>A	ENST00000266037.9	+	15	1386	c.1363G>A	c.(1363-1365)Gga>Aga	p.G455R		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	455	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTATGCAGATGGAGAAATCTT	0.428000													22	88					0	0	0.014323	0	0
HRG	3273	broad.mit.edu	37	3	186394836	186394836	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:186394836G>A	ENST00000232003.4	+	7	822	c.741_splice	c.e7-1	p.E248_splice		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	248	Cystatin 2.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CCTTTTCCAGGAACATGAGAA	0.453000													28	68					0	0	0.006320	0	0
NRG1	3084	broad.mit.edu	37	8	32472036	32472036	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:32472036C>T	ENST00000341377.5	+	4	922	c.405C>T	c.(403-405)atC>atT	p.I135I	NRG1_ENST00000287840.5_Silent_p.I135I|NRG1_ENST00000356819.4_Silent_p.I135I|NRG1_ENST00000287842.3_Silent_p.I135I|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000338921.4_Silent_p.I135I|NRG1_ENST00000521670.1_Silent_p.I135I|NRG1_ENST00000405005.2_Silent_p.I135I|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000523079.1_Silent_p.I135I			Q02297	NRG1_HUMAN	neuregulin 1	135					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TTTCAGAGATCATCACTGGTA	0.418000													7	62					0	0	0.004482	0	0
ZNF536	9745	broad.mit.edu	37	19	31039022	31039022	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:31039022C>T	ENST00000355537.3	+	4	2643	c.2496C>T	c.(2494-2496)ttC>ttT	p.F832F		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	832					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTTCTCTGTTCATCAGGCCAG	0.587000													30	62					0	0	0.008361	0	0
WRN	7486	broad.mit.edu	37	8	31015025	31015025	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:31015025C>T	ENST00000298139.5	+	33	4210	c.3961C>T	c.(3961-3963)Cga>Tga	p.R1321*		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1321					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TGATGTTATCCGAAACCCTCC	0.483000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				7	21					0	0	0.003080	0	0
OR5M11	219487	broad.mit.edu	37	11	56310459	56310459	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:56310459G>A	ENST00000528616.2	-	1	298	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						ACCAGCAAAGGAAATGGTCTT	0.433000													17	26					0	0	0.006122	0	0
GRIA3	2892	broad.mit.edu	37	X	122459987	122459987	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:122459987G>A	ENST00000264357.5	+	4	911	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	GRIA3_ENST00000371251.1_Missense_Mutation_p.E207K|GRIA3_ENST00000542149.1_Missense_Mutation_p.E207K|GRIA3_ENST00000541091.1_Missense_Mutation_p.E191K|GRIA3_ENST00000371256.5_Missense_Mutation_p.E207K	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	207					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GCGCATCATTGAAGAAATGGA	0.438000													35	12					0	0	0.003271	0	0
FKBP9L	360132	broad.mit.edu	37	7	55752938	55752938	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:55752938C>T	ENST00000455909.1	-	0	625					NR_027340.1|NR_027342.1				FK506 binding protein 9-like											endometrium(1)|kidney(1)|lung(3)	5						CTCACCATTCCATATGAACAT	0.517000													4	21					0	0	0.000602	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1811274	1811274	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:1811274G>A	ENST00000250894.4	+	13	1661	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E496K	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	502					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AGAAGAGGCGGAGGATGTAAG	0.607000													15	78					0	0	0.010504	0	0
WIPF1	7456	broad.mit.edu	37	2	175436886	175436886	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:175436886C>T	ENST00000392547.2	-	5	746	c.647G>A	c.(646-648)gGg>gAg	p.G216E	WIPF1_ENST00000392546.2_Missense_Mutation_p.G216E|WIPF1_ENST00000409415.3_Missense_Mutation_p.G216E|WIPF1_ENST00000409891.1_Missense_Mutation_p.G216E|WIPF1_ENST00000359761.3_Missense_Mutation_p.G216E|AC018890.6_ENST00000412835.1_RNA|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.G216E	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	216					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						AGGAGTGGGCCCGGGGCTGGG	0.642000													17	85					0	0	0.010504	0	0
FAM179A	165186	broad.mit.edu	37	2	29245121	29245121	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:29245121G>A	ENST00000379558.4	+	11	1809	c.1458G>A	c.(1456-1458)tcG>tcA	p.S486S	FAM179A_ENST00000403861.2_Silent_p.S431S|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	486							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGCCTTTCTCGAACCCGGAGC	0.572000													21	32					0	0	0.010504	0	0
HCN1	348980	broad.mit.edu	37	5	45396623	45396623	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:45396623C>T	ENST00000303230.4	-	4	1258	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	401						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTCGAAGAATCCAGAGACTGG	0.463000													4	15					0	0	0.001168	0	0
LRBA	987	broad.mit.edu	37	4	151203676	151203676	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:151203676C>T	ENST00000535741.1	-	55	8715	c.8242G>A	c.(8242-8244)Gaa>Aaa	p.E2748K	LRBA_ENST00000510413.1_Missense_Mutation_p.E2747K|LRBA_ENST00000357115.3_Missense_Mutation_p.E2759K|LRBA_ENST00000503716.1_5'UTR			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2759						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)					AGGCCGTTTTCATAGAATATG	0.458000													13	58					0	0	0.001855	0	0
SCGB1D2	10647	broad.mit.edu	37	11	62010826	62010826	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:62010826C>T	ENST00000244926.3	+	2	219	c.121C>T	c.(121-123)Ctg>Ttg	p.L41L	RP11-703H8.9_ENST00000529875.1_RNA	NM_006551.3	NP_006542.1	O95969	SG1D2_HUMAN	secretoglobin, family 1D, member 2	41						extracellular space	binding			breast(1)|endometrium(1)|lung(1)	3						TAGTGAACCTCTGTTCAAGTT	0.443000													23	46					0	0	0.004656	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711178	140711178	+	Silent	SNP	C	C	T	rs148638556		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140711178C>T	ENST00000517417.1	+	1	927	c.927C>T	c.(925-927)ttC>ttT	p.F309F	PCDHGA1_ENST00000378105.3_Silent_p.F309F	NM_018912.2	NP_061735.1												p.F309F(3)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTAGATTTCGAAGAATACA	0.373000													10	18					0	0	0.006214	0	0
BAG3	9531	broad.mit.edu	37	10	121429480	121429480	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:121429480C>T	ENST00000369085.3	+	2	604	c.298C>T	c.(298-300)Cat>Tat	p.H100Y		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	100					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		TCCTGTGCTCCATGAAGGCGC	0.637000													24	77					0	0	0.005443	0	0
IMPDH2	3615	broad.mit.edu	37	3	49065936	49065936	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:49065936G>A	ENST00000326739.4	-	3	216	c.177C>T	c.(175-177)atC>atT	p.I59I		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	59					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	TCTTAAGAGTGATTTTCTTGG	0.547000													8	56					0	0	0.004482	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188488	70188488	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:70188488G>A	ENST00000320256.4	-	1	909	c.333C>T	c.(331-333)gtC>gtT	p.V111V		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	111					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						GGTTTGGGACGACATTGGCCC	0.572000													24	39					0	0	0.005443	0	0
HIVEP1	3096	broad.mit.edu	37	6	12163537	12163537	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:12163537C>T	ENST00000379388.2	+	9	7332	c.7000C>T	c.(7000-7002)Cct>Tct	p.P2334S	HIVEP1_ENST00000541134.1_Missense_Mutation_p.P199S	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2334					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TGTAAGACTTCCTCCTGCTGC	0.468000													57	166					0	0	0.014410	0	0
PDE4C	5143	broad.mit.edu	37	19	18329177	18329177	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:18329177G>A	ENST00000355502.3	-	14	2068	c.1197C>T	c.(1195-1197)tcC>tcT	p.S399S	PDE4C_ENST00000594617.2_Silent_p.S399S|PDE4C_ENST00000262805.11_Silent_p.S367S|PDE4C_ENST00000539010.1_Silent_p.S168S|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000594465.2_Silent_p.S399S|PDE4C_ENST00000447275.2_Silent_p.S293S			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	399					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GCACATGCGTGGACTGGGCCA	0.662000													46	75					0	0	0.014410	0	0
ZNF836	162962	broad.mit.edu	37	19	52660524	52660524	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:52660524C>T	ENST00000322146.8	-	5	933	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.E138K	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGCTGATTTTCAATACATTTG	0.328000													7	18					0	0	0.001984	0	0
ZNF235	9310	broad.mit.edu	37	19	44792651	44792651	+	Missense_Mutation	SNP	G	G	A	rs144837895	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:44792651G>A	ENST00000291182.4	-	5	1039	c.937C>T	c.(937-939)Cgt>Tgt	p.R313C	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				TTCCCAGTACGAACACTTTGT	0.438000													28	47					0	0	0.007291	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110461427	110461427	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:110461427C>T	ENST00000260283.4	-	12	1534	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E	ARHGAP20_ENST00000357139.3_Missense_Mutation_p.G391E|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.G381E|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.G391E|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.G394E|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.G381E	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	417	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TACTTCGACTCCAGAATTCAA	0.393000													11	19					0	0	0.013537	0	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	98995003	98995003	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:98995003G>A	ENST00000453547.2	-	9	1254	c.1255C>T	c.(1255-1257)Cgt>Tgt	p.R419C	ARHGAP19_ENST00000358531.4_Missense_Mutation_p.R419C|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.R410C|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.R419C|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.R390C|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.R410C|ARHGAP19_ENST00000487035.1_5'UTR																							GAGCGCGAACGAGCCCTCTTT	0.398000													26	104					0	0	0.006320	0	0
DMRT3	58524	broad.mit.edu	37	9	990650	990650	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:990650C>T	ENST00000190165.2	+	2	1102	c.1064C>T	c.(1063-1065)gCt>gTt	p.A355V		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	355					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGTCCCTTGGCTGGGCCTCTG	0.582000													27	34					0	0	0.013726	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161022330	161022330	+	Silent	SNP	C	C	T	rs150654338		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:161022330C>T	ENST00000368013.3	-	8	1160	c.840G>A	c.(838-840)agG>agA	p.R280R	ARHGAP30_ENST00000368016.3_Silent_p.R280R|ARHGAP30_ENST00000368015.1_Silent_p.R103R	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	280					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AAGACCCCTTCCTCCTACAAA	0.537000													57	67					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179590212	179590212	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179590212C>T	ENST00000589042.1	-	71	20943	c.20719G>A	c.(20719-20721)Gaa>Aaa	p.E6907K	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E5663K|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E6590K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6590	Ig-like 50.						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)			GCAACATTTTCCACAAATGTA	0.418000													9	35					0	0	0.006214	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38146187	38146187	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:38146187G>A	ENST00000317025.8	-	19	3836	c.3319C>T	c.(3319-3321)Cct>Tct	p.P1107S	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.P1107S|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.P1058S	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1107	AWS.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AAGCCACAAGGGTTTTCATCA	0.493000			T	NUP98	AML								22	58					0	0	0.014323	0	0
COL28A1	340267	broad.mit.edu	37	7	7529073	7529073	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:7529073C>T	ENST00000399429.3	-	13	1251	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	371					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GGTCTTCCTTCTTGGCCTCTT	0.383000													25	45					0	0	0.004656	0	0
SAFB2	9667	broad.mit.edu	37	19	5595504	5595504	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:5595504G>A	ENST00000252542.4	-	14	2051	c.1787C>T	c.(1786-1788)tCc>tTc	p.S596F		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CTGACTCTTGGAGCTCTGTTT	0.418000													8	21					0	0	0.003080	0	0
VWA3B	200403	broad.mit.edu	37	2	98737762	98737762	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:98737762G>A	ENST00000477737.1	+	5	747	c.542_splice	c.e5-1	p.R181_splice	VWA3B_ENST00000435344.1_Splice_Site_p.R181_splice|VWA3B_ENST00000451075.2_Splice_Site_p.M31_splice	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	181			R -> W (in dbSNP:rs2305355).							NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCCTTTTCAGGGTTTCTCAAG	0.522000													11	18					0	0	0.013537	0	0
XIRP2	129446	broad.mit.edu	37	2	168103357	168103357	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:168103357G>T	ENST00000409195.1	+	9	5544	c.5455G>T	c.(5455-5457)Gtt>Ttt	p.V1819F	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V1597F|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V1819F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1644					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CACAGTTAAGGTTTTTATGAC	0.408000													10	63					0.00829132	0.0089504	0.008291	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113519874	113519874	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:113519874C>T	ENST00000284601.3	-	4	1341	c.1273G>A	c.(1273-1275)Gat>Aat	p.D425N		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	425					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACTAGTTCATCACTACTAGTA	0.423000													38	53					0	0	0.005524	0	0
SV2A	9900	broad.mit.edu	37	1	149879733	149879733	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:149879733G>A	ENST00000369146.3	-	9	1895	c.1405C>T	c.(1405-1407)Cct>Tct	p.P469S	SV2A_ENST00000369145.1_Missense_Mutation_p.P469S	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	469					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	ATCATGTCAGGAAACCAGACG	0.522000													38	82					0	0	0.011902	0	0
ZAK	51776	broad.mit.edu	37	2	174131021	174131021	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:174131021C>T	ENST00000375213.3	+	20	2024	c.1946C>T	c.(1945-1947)tCc>tTc	p.S649F	MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.S649F	NM_016653.2	NP_057737.2																					AACTTCTCTTCCCTACATCTC	0.483000													13	38					0	0	0.013537	0	0
OR9I1	219954	broad.mit.edu	37	11	57886005	57886005	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:57886005G>A	ENST00000302610.1	-	1	911	c.912C>T	c.(910-912)gtC>gtT	p.V304V	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V304V(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GTCTCCTAGCGACCTTTCTGA	0.428000													51	83					0	0	0.014410	0	0
ABCC11	85320	broad.mit.edu	37	16	48261857	48261857	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:48261857G>A	ENST00000394747.1	-	3	604	c.255C>T	c.(253-255)ccC>ccT	p.P85P	ABCC11_ENST00000394748.1_Silent_p.P85P|ABCC11_ENST00000353782.5_Silent_p.P85P|ABCC11_ENST00000537808.1_Silent_p.P85P|ABCC11_ENST00000356608.2_Silent_p.P85P	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	85						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CATTGTCCAGGGGCTGGGGGG	0.498000													16	54					0	0	0.003163	0	0
GALNT15	117248	broad.mit.edu	37	3	16254142	16254142	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:16254142C>T	ENST00000339732.5	+	6	1767	c.1264C>T	c.(1264-1266)Cag>Tag	p.Q422*	GALNT15_ENST00000437509.1_Nonsense_Mutation_p.Q422*	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		CTACCAAAATCAGGATTCCCA	0.537000													21	45					0	0	0.012319	0	0
DNAH11	8701	broad.mit.edu	37	7	21789935	21789935	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:21789935G>A	ENST00000328843.6	+	55	8945	c.8914G>A	c.(8914-8916)Gaa>Aaa	p.E2972K	DNAH11_ENST00000409508.3_Missense_Mutation_p.E2965K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2972	AAA 4 (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						AGACTCCAGGGAAAACTGTTG	0.413000									Kartagener syndrome				8	9					0	0	0.006214	0	0
MUC16	94025	broad.mit.edu	37	19	9073527	9073527	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9073527G>T	ENST00000397910.4	-	3	14122	c.13919C>A	c.(13918-13920)tCt>tAt	p.S4640Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4642	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						TGCATCAAAAGAGGGGACTTC	0.453000													10	90					3.07112e-06	3.3368e-06	0.010729	1	0
ZNF211	10520	broad.mit.edu	37	19	58144753	58144753	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:58144753C>T	ENST00000299871.5	+	1	170	c.39C>T	c.(37-39)gtC>gtT	p.V13V	ZNF211_ENST00000420680.1_Intron|ZNF211_ENST00000347302.3_Silent_p.V13V|ZNF211_ENST00000541801.1_Intron|ZNF211_ENST00000391703.3_Intron|ZNF211_ENST00000254182.7_Intron|ZNF211_ENST00000240731.4_Silent_p.V13V|ZNF211_ENST00000544273.1_5'UTR	NM_001265597.1	NP_001252526.1	Q13398	ZN211_HUMAN	zinc finger protein 211	13						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGCTCCCGGTCCAGCTCCGCC	0.726000													6	18					0	0	0.003080	0	0
KIAA1324	57535	broad.mit.edu	37	1	109743403	109743403	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:109743403G>A	ENST00000369939.3	+	21	3037	c.2854G>A	c.(2854-2856)Gac>Aac	p.D952N	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Missense_Mutation_p.D865N	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	952					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		TACTCTCAAGGACTGTGACCT	0.488000											OREG0013630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	164	339					0	0	0.014410	0	0
C1orf172	126695	broad.mit.edu	37	1	27278660	27278660	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:27278660G>A	ENST00000320567.5	-	2	300	c.212C>T	c.(211-213)tCc>tTc	p.S71F		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	71										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GCAGGTGGGGGACTCAAGGGC	0.682000													8	28					0	0	0.004482	0	0
FEZF1	389549	broad.mit.edu	37	7	121944266	121944266	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:121944266G>A	ENST00000442488.2	-	1	293	c.226C>T	c.(226-228)Ccc>Tcc	p.P76S	FEZF1_ENST00000427185.2_Missense_Mutation_p.P76S|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.P76S	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	76					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GGCACGAAGGGGATCATGCAG	0.687000													15	36					0	0	0.002450	0	0
SLC39A13	91252	broad.mit.edu	37	11	47435027	47435027	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:47435027C>T	ENST00000524928.1	+	4	624	c.614C>T	c.(613-615)cCc>cTc	p.P205L	SLC39A13_ENST00000362021.4_Missense_Mutation_p.P205L|SLC39A13_ENST00000354884.4_Missense_Mutation_p.P205L|SLC39A13_ENST00000533076.1_Missense_Mutation_p.P205L|SLC39A13_ENST00000529740.1_3'UTR			Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	205					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		GCTGCAGAGCCCGGCCTCGGT	0.692000													9	33					0	0	0.006214	0	0
HTR1D	3352	broad.mit.edu	37	1	23520476	23520476	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:23520476G>A	ENST00000374619.1	-	1	746	c.237C>T	c.(235-237)tcC>tcT	p.S79S	HTR1D_ENST00000314113.3_Silent_p.S79S	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	79					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TGGTGGCCAGGGAGCCAATCA	0.537000													52	123					0	0	0.014410	0	0
PHACTR4	65979	broad.mit.edu	37	1	28785613	28785613	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:28785613A>C	ENST00000373839.3	+	3	295	c.34A>C	c.(34-36)Act>Cct	p.T12P	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.T22P	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	12							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		AGACCAGCCCACTACAGAGCC	0.468000													8	34					0	0	0.003080	0	0
DNAH3	55567	broad.mit.edu	37	16	20996678	20996678	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:20996678C>T	ENST00000261383.3	-	48	7385	c.7386G>A	c.(7384-7386)aaG>aaA	p.K2462K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2462	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTGCGTAGTTCTTGGTGATCT	0.547000													15	11					0	0	0.002450	0	0
SPHKAP	80309	broad.mit.edu	37	2	228856032	228856032	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:228856032C>T	ENST00000392056.3	-	10	4778	c.4732G>A	c.(4732-4734)Gaa>Aaa	p.E1578K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1549K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1578						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCTTTTCTTCTACTAATTCA	0.393000													22	45					0	0	0.003330	0	0
SI	6476	broad.mit.edu	37	3	164712147	164712147	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:164712147C>T	ENST00000264382.3	-	41	4801	c.4739G>A	c.(4738-4740)aGg>aAg	p.R1580K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1580	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)	TAGAATATTCCTTGACATTTC	0.353000										HNSCC(35;0.089)			23	50					0	0	0.004656	0	0
C1orf186	440712	broad.mit.edu	37	1	206241558	206241558	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:206241558G>A	ENST00000331555.5	-	4	869	c.231C>T	c.(229-231)atC>atT	p.I77I		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	77						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CAGACATTGGGATGTCTCTCT	0.547000													64	139					0	0	0.014410	0	0
SMU1	55234	broad.mit.edu	37	9	33062142	33062142	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:33062142G>A	ENST00000397149.3	-	5	585	c.535C>T	c.(535-537)Cct>Tct	p.P179S	SMU1_ENST00000536631.1_Missense_Mutation_p.P18S	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	179						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		ATACCAGGAGGAAGCAATCCC	0.428000													20	37					0	0	0.008871	0	0
DDO	8528	broad.mit.edu	37	6	110736674	110736674	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:110736674C>T	ENST00000368924.3	-	1	91	c.76G>A	c.(76-78)Gac>Aac	p.D26N	DDO_ENST00000368923.3_Missense_Mutation_p.D26N|DDO_ENST00000368925.1_5'UTR	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	0					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		AAGTACCTGTCTCTGAAAAAG	0.517000													4	43					0	0	0.009096	0	0
RXFP2	122042	broad.mit.edu	37	13	32367143	32367143	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:32367143G>A	ENST00000298386.2	+	16	1775	c.1704G>A	c.(1702-1704)ggG>ggA	p.G568G	RXFP2_ENST00000380314.1_Silent_p.G544G	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	568						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ACTTTTATGGGAAAAATGGAG	0.343000													12	22					0	0	0.001855	0	0
HAO1	54363	broad.mit.edu	37	20	7895041	7895041	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:7895041C>T	ENST00000378789.3	-	3	366	c.315G>A	c.(313-315)atG>atA	p.M105I		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	105	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AACTCAACATCATGCCCGTTC	0.517000													6	22					0	0	0.001984	0	0
OR6T1	219874	broad.mit.edu	37	11	123813896	123813896	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:123813896G>A	ENST00000321252.2	-	1	684	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S217Y(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		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;0.0401)		GCAGGCATAGGAAACTGAGGT	0.542000													4	43					0	0	0.009096	0	0
EPPIN	57119	broad.mit.edu	37	20	44174409	44174409	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:44174409C>T	ENST00000336443.3	-	1	607	c.44G>A	c.(43-45)gGg>gAg	p.G15E	EPPIN-WFDC6_ENST00000504988.1_Splice_Site_p.R31_splice|EPPIN_ENST00000409554.1_Splice_Site_p.R31_splice|EPPIN_ENST00000555685.1_Splice_Site_p.R31_splice|EPPIN_ENST00000354280.4_Splice_Site_p.R31_splice					epididymal peptidase inhibitor																		GGGACATCTCCCTAGGGAAAG	0.468000													19	51					0	0	0.010504	0	0
IDH3G	3421	broad.mit.edu	37	X	153052286	153052286	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:153052286G>A	ENST00000370092.3	-	10	1079	c.894C>T	c.(892-894)aaC>aaT	p.N298N	IDH3G_ENST00000217901.5_Silent_p.N298N|IDH3G_ENST00000427365.2_Silent_p.N240N|IDH3G_ENST00000370093.1_Silent_p.N298N	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	298					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CATGGCCATAGTTGGCCCCAG	0.572000													36	20					0	0	0.004878	0	0
OTOL1	131149	broad.mit.edu	37	3	161221501	161221501	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:161221501G>A	ENST00000327928.4	+	4	1205	c.1205G>A	c.(1204-1206)cGa>cAa	p.R402Q		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	402	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CGACCTGCTCGAATCAGTCTG	0.468000													8	9					0	0	0.003080	0	0
OR10C1	442194	broad.mit.edu	37	6	29408591	29408591	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:29408591C>T	ENST00000444197.2	+	1	1509	c.799C>T	c.(799-801)Ccg>Tcg	p.P267S	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CAGCTACGATCCGGCCACTGA	0.572000													64	109					0	0	0.014410	0	0
CADPS	8618	broad.mit.edu	37	3	62464011	62464011	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:62464011T>C	ENST00000383710.4	-	23	3603	c.3254A>G	c.(3253-3255)gAa>gGa	p.E1085G	CADPS_ENST00000357948.3_Missense_Mutation_p.E1006G|CADPS_ENST00000283269.9_Missense_Mutation_p.E1046G	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1085	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AAACTCTTCTTCAGGCCAGTG	0.473000													10	68					0	0	0.008291	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	22995424	22995424	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:22995424A>G	ENST00000312584.3	-	9	1214	c.1120T>C	c.(1120-1122)Tat>Cat	p.Y374H		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	374					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TCTTCTTCATAAAAGAGCTTT	0.488000													3	34					0	0	0.004672	0	0
ARAP2	116984	broad.mit.edu	37	4	36126563	36126563	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:36126563T>C	ENST00000303965.4	-	22	4156	c.3667A>G	c.(3667-3669)Aaa>Gaa	p.K1223E		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1223	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CCATATTTTTTAATTCTTTCC	0.358000													26	21					0	0	0.007291	0	0
PLCH1	23007	broad.mit.edu	37	3	155200581	155200581	+	Silent	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:155200581T>C	ENST00000460012.1	-	23	3501	c.3144A>G	c.(3142-3144)ccA>ccG	p.P1048P	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Silent_p.P1086P|PLCH1_ENST00000414191.1_Silent_p.P1048P|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Silent_p.P1048P			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1086					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AATGCTGCTTTGGGGAGAGAG	0.507000													59	106					0	0	0.014410	0	0
PHKA1	5255	broad.mit.edu	37	X	71843002	71843002	+	Silent	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:71843002C>A	ENST00000373545.3	-	18	2355	c.1917G>T	c.(1915-1917)ctG>ctT	p.L639L	PHKA1_ENST00000373539.3_Silent_p.L639L|PHKA1_ENST00000373542.4_Silent_p.L639L|PHKA1_ENST00000541944.1_Silent_p.L639L|PHKA1_ENST00000339490.3_Silent_p.L639L			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	639					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TGCCAGATTCCAGGTAATCAT	0.413000													18	11					1.2644e-06	1.37553e-06	0.010504	1	0
RFX1	5989	broad.mit.edu	37	19	14079479	14079479	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:14079479G>A	ENST00000254325.4	-	12	1864	c.1630C>T	c.(1630-1632)Cag>Tag	p.Q544*		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	544					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			TCCATCTTCTGGATGGGCTTG	0.682000													17	27					0	0	0.012319	0	0
TTN	7273	broad.mit.edu	37	2	179583544	179583544	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179583544A>T	ENST00000589042.1	-	84	24607	c.24383T>A	c.(24382-24384)cTg>cAg	p.L8128Q	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.L6884Q|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.L7811Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7811	Ig-like 63.						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)			AAAATCTTCCAGAGAGATGTT	0.488000													13	24					0	0	0.004007	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643740	37643740	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:37643740G>A	ENST00000356958.4	-	5	1319	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F	ZNF585A_ENST00000355533.2_Missense_Mutation_p.S299F|ZNF585A_ENST00000392157.2_Missense_Mutation_p.S299F|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.S299F			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTACATATGGAAGATTTCTC	0.398000													39	62					0	0	0.008740	0	0
SALL1	6299	broad.mit.edu	37	16	51171035	51171035	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:51171035G>A	ENST00000440970.1	-	3	4103	c.3672C>T	c.(3670-3672)atC>atT	p.I1224I	SALL1_ENST00000541611.1_Silent_p.I144I|SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000251020.4_Silent_p.I1321I	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1321					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I1321I(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AACTCGTGACGATCTCCTTGC	0.592000													6	27					0	0	0.001168	0	0
PLA2G7	7941	broad.mit.edu	37	6	46672297	46672297	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:46672297C>T	ENST00000274793.7	-	12	1522	c.1326G>A	c.(1324-1326)taG>taA	p.*442*	PLA2G7_ENST00000537365.1_Silent_p.*442*	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	0					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TATTTTAATCCTAATTGTATT	0.353000													7	29					0	0	0.001984	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18691095	18691095	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:18691095G>A	ENST00000433979.1	+	24	3322	c.3206G>A	c.(3205-3207)cGa>cAa	p.R1069Q	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.R1069Q|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R1110Q	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1069	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TACAGGGACCGAGCTCCTTTC	0.368000													25	12					0	0	0.006320	0	0
FMN2	56776	broad.mit.edu	37	1	240370204	240370204	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:240370204C>T	ENST00000319653.9	+	5	2322	c.2092C>T	c.(2092-2094)Cct>Tct	p.P698S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	698					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAGGCAGTATCCTGCCCTGGA	0.498000													9	44					0	0	0.008291	0	0
FLNC	2318	broad.mit.edu	37	7	128494960	128494960	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:128494960G>A	ENST00000325888.8	+	42	7390	c.7129G>A	c.(7129-7131)Gaa>Aaa	p.E2377K	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.E2344K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2377					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGTCGTCCAGGAACCAGGTGG	0.627000													20	48					0	0	0.014323	0	0
MIR557	693142	broad.mit.edu	37	1	168344851	168344851	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:168344851G>A	ENST00000385239.1	+	0	90					NR_030284.1																						GTCTTTGAAAGGAGGTGGAGA	0.463000													46	106					0	0	0.014410	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439746	150439746	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:150439746G>A	ENST00000358647.3	+	3	886	c.519G>A	c.(517-519)ctG>ctA	p.L173L	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACTGCAGCCTGAAAGACCTGG	0.577000													49	74					0	0	0.014410	0	0
OSBPL2	9885	broad.mit.edu	37	20	60854366	60854366	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:60854366C>T	ENST00000313733.3	+	7	847	c.645C>T	c.(643-645)ccC>ccT	p.P215P	OSBPL2_ENST00000439951.2_Silent_p.P123P|OSBPL2_ENST00000358053.2_Silent_p.P203P	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	215					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			AGGCGGAGCCCCGAGGCACCA	0.582000													11	21					0	0	0.013537	0	0
GPR111	222611	broad.mit.edu	37	6	47646785	47646785	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:47646785G>A	ENST00000398742.2	+	3	231	c.182G>A	c.(181-183)gGa>gAa	p.G61E	GPR111_ENST00000507065.1_Missense_Mutation_p.G61E|GPR111_ENST00000296862.1_Missense_Mutation_p.G129E			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	129					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GACACTCAGGGAAATATGGGG	0.458000													20	28					0	0	0.008871	0	0
HRASLS5	117245	broad.mit.edu	37	11	63230976	63230976	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:63230976C>T	ENST00000540857.1	-	6	941	c.809G>A	c.(808-810)tGa>tAa	p.*270*	HRASLS5_ENST00000539221.1_3'UTR|HRASLS5_ENST00000301790.4_Silent_p.*280*	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	0										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TCATCACCTTCAGGCAGTTAT	0.468000													33	134					0	0	0.005524	0	0
MME	4311	broad.mit.edu	37	3	154856008	154856008	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:154856008G>A	ENST00000460393.1	+	9	958	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	MME_ENST00000462745.1_Missense_Mutation_p.E280K|MME_ENST00000493237.1_Missense_Mutation_p.E280K|MME_ENST00000360490.2_Missense_Mutation_p.E280K|MME_ENST00000492661.1_Missense_Mutation_p.E280K	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	280					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TATGGAATTGGAAAAAGAAAT	0.338000													21	49					0	0	0.002780	0	0
RBM12B	389677	broad.mit.edu	37	8	94746800	94746800	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:94746800G>A	ENST00000399300.2	-	3	2052	c.1839C>T	c.(1837-1839)caC>caT	p.H613H	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Silent_p.H613H	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	613							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCTCCCTAGGGTGCCTGAAGT	0.642000													15	45					0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179429354	179429354	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179429354C>T	ENST00000589042.1	-	326	81729	c.81505G>A	c.(81505-81507)Gat>Aat	p.D27169N	TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D18104N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D18229N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D24601N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D18296N|TTN_ENST00000591111.1_Missense_Mutation_p.D25528N|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25528	Ig-like 129.						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)			TCACATGGATCACGAGCAACA	0.443000													17	22					0	0	0.012319	0	0
STC1	6781	broad.mit.edu	37	8	23702352	23702352	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:23702352G>A	ENST00000290271.2	-	4	958	c.675C>T	c.(673-675)ctC>ctT	p.L225L	STC1_ENST00000524323.1_Silent_p.L156L	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	225					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GGTTCCTGAGGAGGACTTTCA	0.547000													17	39					0	0	0.007413	0	0
CASR	846	broad.mit.edu	37	3	121980613	121980613	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:121980613C>T	ENST00000498619.1	+	4	1169	c.731C>T	c.(730-732)tCc>tTc	p.S244F	CASR_ENST00000296154.5_Missense_Mutation_p.S244F|CASR_ENST00000490131.1_Missense_Mutation_p.S244F	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	244					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GAACTCATCTCCCAGTACTCT	0.498000													8	131					0	0	0.010729	0	0
KCNA7	3743	broad.mit.edu	37	19	49573376	49573376	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:49573376C>T	ENST00000221444.1	-	2	1670	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	439						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		GGTGGTAGCTCAGGTACCTCC	0.622000													24	28					0	0	0.003330	0	0
SLC45A2	51151	broad.mit.edu	37	5	33964039	33964039	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:33964039G>A	ENST00000382102.3	-	3	702	c.645C>T	c.(643-645)ttC>ttT	p.F215F	SLC45A2_ENST00000296589.4_Silent_p.F215F|SLC45A2_ENST00000509381.1_Intron|SLC45A2_ENST00000345083.5_Intron|SLC45A2_ENST00000342059.3_Silent_p.F156F	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	215					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						ACATGACCTGGAATTCTGTAC	0.488000													11	22					0	0	0.008291	0	0
PDCD4	27250	broad.mit.edu	37	10	112645010	112645010	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:112645010G>A	ENST00000393104.2	+	6	768		c.e6-1		PDCD4_ENST00000280154.7_Splice_Site|PDCD4_ENST00000481353.1_3'UTR	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)						apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TCCCCTCAAAGGAGAACTGTG	0.328000													14	36					0	0	0.001855	0	0
EPN1	29924	broad.mit.edu	37	19	56204342	56204342	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:56204342C>T	ENST00000411543.2	+	9	2008	c.1461C>T	c.(1459-1461)ccC>ccT	p.P487P	EPN1_ENST00000270460.6_Silent_p.P401P|EPN1_ENST00000085079.7_Silent_p.P375P	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	401	Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		ACACGGAGCCCGACGAGTTCT	0.701000													27	91					0	0	0.010818	0	0
ACADL	33	broad.mit.edu	37	2	211070512	211070512	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:211070512G>A	ENST00000233710.3	-	6	839	c.612C>T	c.(610-612)atC>atT	p.I204I	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	204					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		ACCCATTACTGATGAACACCT	0.383000													25	48					0	0	0.007291	0	0
LYG1	129530	broad.mit.edu	37	2	99907775	99907775	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:99907775G>A	ENST00000409448.1	-	6	574	c.258C>T	c.(256-258)atC>atT	p.I86I	LYG1_ENST00000308528.4_Silent_p.I86I			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	86					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						AGACACCAGCGATCACGGCAG	0.488000													21	25					0	0	0.014323	0	0
OR2W3	343171	broad.mit.edu	37	1	248058927	248058927	+	Silent	SNP	C	C	T	rs118132111	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248058927C>T	ENST00000537741.1	+	3	296	c.39C>T	c.(37-39)atC>atT	p.I13I	OR2W3_ENST00000360358.3_Silent_p.I13I			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	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;0.0319)			CCCATTTCATCCTACTGGGAT	0.473000													6	37					0	0	0.001168	0	0
ZNF215	7762	broad.mit.edu	37	11	6977606	6977606	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:6977606C>T	ENST00000278319.5	+	7	1986	c.1398C>T	c.(1396-1398)aaC>aaT	p.N466N	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Silent_p.N466N	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	466					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		AATGTGTTAACTGTGGAAAAT	0.393000													25	34					0	0	0.003954	0	0
BAD	572	broad.mit.edu	37	11	64037647	64037647	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:64037647G>A	ENST00000544785.1	-	2	350	c.350C>T	c.(349-351)cCc>cTc	p.P117L	BAD_ENST00000394532.3_3'UTR|BAD_ENST00000309032.3_3'UTR			Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	0					activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						CAGGGCAGTGGGAACGGGTGG	0.607000													9	32					0	0	0.006214	0	0
SCGB1D1	10648	broad.mit.edu	37	11	61960872	61960872	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:61960872G>A	ENST00000306238.3	+	3	314	c.243_splice	c.e3-1	p.G82_splice		NM_006552.1	NP_006543.1	O95968	SG1D1_HUMAN	secretoglobin, family 1D, member 1	82						extracellular space	binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	9						CTATTTCAGGGAAAAATAGCA	0.413000													9	15					0	0	0.010729	0	0
DLG5	9231	broad.mit.edu	37	10	79554636	79554636	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:79554636G>A	ENST00000372391.2	-	30	5522	c.5517C>T	c.(5515-5517)ttC>ttT	p.F1839F	DLG5_ENST00000372388.2_Silent_p.F1499F|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1839	Guanylate kinase-like.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGTAGTGGATGAAGATGACAA	0.607000													8	20					0	0	0.003080	0	0
ZAN	7455	broad.mit.edu	37	7	100391855	100391855	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100391855G>A	ENST00000542585.1	+	0	8310				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCACCCTGGGGAACCACACCC	0.642000													19	72					0	0	0.002780	0	0
AKR7L	246181	broad.mit.edu	37	1	19597021	19597021	+	RNA	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:19597021T>C	ENST00000420396.2	-	0	430				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						GGCGGCATAGTTGGAGAGGCC	0.637000													16	23					0	0	0.006122	0	0
GRM4	2914	broad.mit.edu	37	6	34004268	34004268	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:34004268C>T	ENST00000374181.3	-	8	1788	c.1619G>A	c.(1618-1620)tGg>tAg	p.W540*	GRM4_ENST00000545715.1_Nonsense_Mutation_p.W232*|GRM4_ENST00000455714.2_Nonsense_Mutation_p.W400*|GRM4_ENST00000535756.1_Nonsense_Mutation_p.W407*|GRM4_ENST00000544773.1_Nonsense_Mutation_p.W371*|GRM4_ENST00000374177.3_Nonsense_Mutation_p.W424*|GRM4_ENST00000538487.1_Nonsense_Mutation_p.W540*	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	540					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CTCGCAGTGCCAGCAGCAAGG	0.652000													12	42					0	0	0.010729	0	0
SLC14A2	8170	broad.mit.edu	37	18	43247946	43247946	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:43247946C>T	ENST00000255226.6	+	14	2682	c.1866C>T	c.(1864-1866)acC>acT	p.T622T	SLC14A2_ENST00000586448.1_Silent_p.T622T|SLC14A2_ENST00000589658.1_Silent_p.T99T	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	622						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCCTGGGTACCATCATGTCCA	0.562000													38	64					0	0	0.005524	0	0
MCOLN3	55283	broad.mit.edu	37	1	85484831	85484831	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:85484831G>A	ENST00000370589.2	-	13	1689	c.1637C>T	c.(1636-1638)tCt>tTt	p.S546F	MCOLN3_ENST00000474447.1_5'UTR|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Missense_Mutation_p.S490F	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	546						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		GCAGAATAAAGATACTGGAGG	0.373000													7	44					0	0	0.003080	0	0
PTENP1	11191	broad.mit.edu	37	9	33676283	33676283	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:33676283G>A	ENST00000532280.1	-	0	1214					NR_023917.1																						GCTTTACAGTGAATTGCTGCA	0.388000													12	46					0	0	0.006122	0	0
EXOC5	10640	broad.mit.edu	37	14	57676445	57676445	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:57676445G>A	ENST00000413566.2	-	17	2137	c.1778C>T	c.(1777-1779)tCc>tTc	p.S593F	EXOC5_ENST00000340918.7_Missense_Mutation_p.S528F	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	593					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						CCCATCCATGGAATTTTTAAT	0.363000													10	8					0	0	0.008291	0	0
PROSER1	80209	broad.mit.edu	37	13	39587218	39587218	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:39587218G>A	ENST00000352251.3	-	11	3004	c.2171C>T	c.(2170-2172)tCa>tTa	p.S724L	PROSER1_ENST00000350125.3_Missense_Mutation_p.S702L|PROSER1_ENST00000484434.2_Intron	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	724	Ser-rich.																GGCTATTAATGACCCTGGGAG	0.488000													7	73					0	0	0.001984	0	0
OR4D11	219986	broad.mit.edu	37	11	59271963	59271963	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:59271963C>T	ENST00000313253.1	+	1	915	c.915C>T	c.(913-915)ctC>ctT	p.L305L		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						AGAGAAGACTCGTGCCTTCTG	0.527000													13	19					0	0	0.013537	0	0
IFNAR1	3454	broad.mit.edu	37	21	34715863	34715863	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:34715863C>T	ENST00000270139.3	+	5	706	c.554C>T	c.(553-555)tCc>tTc	p.S185F	IFNAR1_ENST00000416947.2_Missense_Mutation_p.S116F|IFNAR1_ENST00000442357.2_Missense_Mutation_p.S185F	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	185	Fibronectin type-III 1.				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AATATTTATTCCAGACATAAA	0.289000													8	26					0	0	0.003080	0	0
ZNF319	57567	broad.mit.edu	37	16	58030886	58030886	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:58030886G>A	ENST00000299237.2	-	2	1906	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CAGGGCACTTGAAGGGCCGCT	0.667000													6	21					0	0	0.001984	0	0
LHFPL4	375323	broad.mit.edu	37	3	9543896	9543896	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:9543896C>T	ENST00000287585.6	-	4	1028	c.743G>A	c.(742-744)tGa>tAa	p.*248*		NM_198560.2	NP_940962.1	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	0						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					CCTGGCCTTTCAGGGTCCCTG	0.587000													6	24					0	0	0.003080	0	0
CUL4A	8451	broad.mit.edu	37	13	113899540	113899540	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:113899540C>T	ENST00000451881.1	+	14	1468	c.1219C>T	c.(1219-1221)Cat>Tat	p.H407Y	CUL4A_ENST00000326335.4_Missense_Mutation_p.H407Y|CUL4A_ENST00000375440.4_Missense_Mutation_p.H507Y|CUL4A_ENST00000375441.3_Missense_Mutation_p.H407Y	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	507					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			CATCATGGTTCATTTCAAGCA	0.493000													11	29					0	0	0.002450	0	0
INADL	10207	broad.mit.edu	37	1	62253636	62253636	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:62253636C>T	ENST00000371158.2	+	8	1174	c.1060C>T	c.(1060-1062)Cct>Tct	p.P354S	INADL_ENST00000316485.6_Missense_Mutation_p.P354S	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	354					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CAGCAAGGGCCCTGGTTCTGT	0.488000													11	33					0	0	0.001855	0	0
EGFR	1956	broad.mit.edu	37	7	55266472	55266472	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:55266472G>A	ENST00000275493.2	+	23	2941	c.2764G>A	c.(2764-2766)Gag>Aag	p.E922K	EGFR_ENST00000454757.2_Missense_Mutation_p.E869K|EGFR_ENST00000455089.1_Missense_Mutation_p.E877K|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	922	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCCTGCCAGCGAGATCTCCTC	0.517000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			27	73					0	0	0.008361	0	0
SRP54	6729	broad.mit.edu	37	14	35478029	35478029	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:35478029T>A	ENST00000556994.1	+	8	874	c.477T>A	c.(475-477)ttT>ttA	p.F159L	SRP54_ENST00000555557.1_Missense_Mutation_p.F95L|SRP54_ENST00000546080.1_Missense_Mutation_p.F110L|SRP54_ENST00000216774.6_Missense_Mutation_p.F159L			P61011	SRP54_HUMAN	signal recognition particle 54kDa	159	G-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		GAATTCCATTTTATGGAAGGT	0.323000													5	18					0	0	0.000602	0	0
CDYL2	124359	broad.mit.edu	37	16	80718592	80718592	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:80718592C>T	ENST00000299564.8	-	2	614	c.459G>A	c.(457-459)caG>caA	p.Q153Q	CDYL2_ENST00000563890.1_Silent_p.Q153Q|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000562812.1_Silent_p.Q153Q|CDYL2_ENST00000566173.1_Silent_p.Q153Q	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	153						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CCATCCCGTTCTGAGACTTTT	0.522000													11	57					0	0	0.013537	0	0
IL18R1	8809	broad.mit.edu	37	2	102992414	102992414	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:102992414G>A	ENST00000409599.1	+	6	872	c.516G>A	c.(514-516)aaG>aaA	p.K172K	IL18R1_ENST00000233957.1_Silent_p.K172K			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	172	Ig-like C2-type 2.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CAACGATAAAGAAGAACGCCG	0.308000													13	18					0	0	0.013537	0	0
TLR4	7099	broad.mit.edu	37	9	120474857	120474857	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:120474857A>T	ENST00000355622.6	+	3	552	c.451A>T	c.(451-453)Act>Tct	p.T151S	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.T111S	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	151					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ACATCTCAAAACTTTGAAAGA	0.413000													9	38					0	0	0.004482	0	0
CACHD1	57685	broad.mit.edu	37	1	65130323	65130323	+	Missense_Mutation	SNP	C	C	T	rs145700540		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:65130323C>T	ENST00000371073.2	+	15	2237	c.2237C>T	c.(2236-2238)tCc>tTc	p.S746F	CACHD1_ENST00000290039.5_Missense_Mutation_p.S695F|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	746					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TATCCTGGTTCCCTCATGGAC	0.458000													16	118					0	0	0.006122	0	0
LRP1B	53353	broad.mit.edu	37	2	140995765	140995765	+	Missense_Mutation	SNP	C	C	T	rs141605274		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:140995765C>T	ENST00000389484.3	-	89	14487	c.13516G>A	c.(13516-13518)Gat>Aat	p.D4506N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4506					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)		AGACCTCCATCGTTGTGATCA	0.368000										TSP Lung(27;0.18)			7	50					0	0	0.003080	0	0
VPS37A	137492	broad.mit.edu	37	8	17132409	17132409	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:17132409C>T	ENST00000324849.4	+	5	1258	c.584C>T	c.(583-585)tCa>tTa	p.S195L	VPS37A_ENST00000521829.1_Missense_Mutation_p.S170L	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	195					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		GCCGCTCCTTCATTTGGTGTC	0.438000													24	75					0	0	0.013726	0	0
TAF1L	138474	broad.mit.edu	37	9	32630383	32630383	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:32630383G>A	ENST00000242310.4	-	1	5284	c.5195C>T	c.(5194-5196)cCt>cTt	p.P1732L		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1732					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGGAGGCTTAGGTTTCCCATC	0.507000													59	75					0	0	0.014410	0	0
HNF4A	3172	broad.mit.edu	37	20	43043290	43043290	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:43043290C>T	ENST00000316099.3	+	5	725	c.636C>T	c.(634-636)ccC>ccT	p.P212P	HNF4A_ENST00000443598.2_Silent_p.P212P|HNF4A_ENST00000457232.1_Silent_p.P190P|HNF4A_ENST00000415691.1_Silent_p.P212P	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	212					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCGAGCTCCCCCTGGACGACC	0.622000													55	118					0	0	0.014410	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818821	159818821	+	RNA	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:159818821A>T	ENST00000497452.1	-	0	517																											Caaggacagaaagcggaaaaa	0.478000													44	134					0	0	0.014410	0	0
PLA2G3	50487	broad.mit.edu	37	22	31533881	31533881	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:31533881G>A	ENST00000215885.3	-	4	1133	c.881C>T	c.(880-882)tCc>tTc	p.S294F		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	294					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TGGGCTCCGGGAGCTGGGAGT	0.647000													22	85					0	0	0.002780	0	0
SMC5	23137	broad.mit.edu	37	9	72930412	72930412	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:72930412C>T	ENST00000361138.5	+	13	1782	c.1724C>T	c.(1723-1725)cCt>cTt	p.P575L		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	575	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GCACCTGATCCTGTAATGAGT	0.323000													6	21					0	0	0.001168	0	0
TG	7038	broad.mit.edu	37	8	133894774	133894774	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:133894774C>T	ENST00000220616.4	+	7	846	c.806C>T	c.(805-807)tCc>tTc	p.S269F	TG_ENST00000377869.1_Missense_Mutation_p.S269F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	269	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GACCTTCCTTCCACCTTCACT	0.463000													41	125					0	0	0.008740	0	0
SLC22A9	114571	broad.mit.edu	37	11	63137682	63137682	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:63137682C>T	ENST00000279178.3	+	1	403	c.154C>T	c.(154-156)Cac>Tac	p.H52Y	SLC22A9_ENST00000310969.4_Missense_Mutation_p.H52Y	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	52					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTGCTGGGTCCACATCCTGGA	0.488000													44	123					0	0	0.014410	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76482679	76482679	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:76482679C>T	ENST00000307431.8	+	7	1140	c.755C>T	c.(754-756)cCt>cTt	p.P252L	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.P256L|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P252L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P228L	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	253	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GCTAAACTGCCTTCCACTTCC	0.453000													3	9					0	0	0.009096	0	0
LCN12	286256	broad.mit.edu	37	9	139846814	139846814	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:139846814C>G	ENST00000371633.3	+	1	35	c.35C>G	c.(34-36)tCc>tGc	p.S12C		NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12	12					lipid metabolic process	extracellular region	binding|transporter activity			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		CTGTGGCTCTCCTTGCTGAAA	0.632000													6	16					0	0	0.001168	0	0
ROS1	6098	broad.mit.edu	37	6	117662585	117662585	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:117662585C>T	ENST00000368508.3	-	29	5078	c.4880G>A	c.(4879-4881)gGt>gAt	p.G1627D	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.G1621D	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1627	Fibronectin type-III 7.				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)		AATATTTCCACCAGACAGTCT	0.398000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								10	52					0	0	0.006214	0	0
NLRP9	338321	broad.mit.edu	37	19	56226547	56226547	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:56226547G>A	ENST00000332836.2	-	6	2402	c.2375C>T	c.(2374-2376)tCc>tTc	p.S792F		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	792						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GAGGACTTCGGAAATGGAGTC	0.527000													15	23					0	0	0.004007	0	0
SLC6A14	11254	broad.mit.edu	37	X	115589994	115589994	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:115589994G>A	ENST00000371900.4	+	14	1890	c.1802G>A	c.(1801-1803)aGa>aAa	p.R601K	SLC6A14_ENST00000463626.1_3'UTR	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	601					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	AGTTGCTGCAGACCAGCTTCT	0.378000													36	16					0	0	0.005524	0	0
COL1A2	1278	broad.mit.edu	37	7	94053670	94053670	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:94053670C>T	ENST00000297268.6	+	41	3059	c.2588C>T	c.(2587-2589)cCt>cTt	p.P863L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	863					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	ACTCCAGGTCCTCAGGGTCTT	0.502000										HNSCC(75;0.22)			44	82					0	0	0.014410	0	0
SLC1A6	6511	broad.mit.edu	37	19	15083549	15083549	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15083549G>A	ENST00000430939.2	-	2	316	c.187C>T	c.(187-189)Cat>Tat	p.H63Y	SLC1A6_ENST00000221742.3_Silent_p.F58F|SLC1A6_ENST00000600144.1_Silent_p.F58F|SLC1A6_ENST00000598504.1_Silent_p.F58F|SLC1A6_ENST00000544886.2_Silent_p.F58F			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	0					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TCAGCAGAATGAAGGCGTTTC	0.642000													9	27					0	0	0.008291	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12920100	12920100	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:12920100C>T	ENST00000240189.2	+	3	927	c.840C>T	c.(838-840)ttC>ttT	p.F280F		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	280										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	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;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCTTCTTCAGTGGGCACC	0.458000													39	79					0	0	0.008740	0	0
MUC16	94025	broad.mit.edu	37	19	9045613	9045613	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9045613G>A	ENST00000397910.4	-	5	36221	c.36018C>T	c.(36016-36018)acC>acT	p.T12006T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12008	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						TCCCAGGTGTGGTCAGAGGAG	0.428000													9	12					0	0	0.008291	0	0
TBATA	219793	broad.mit.edu	37	10	72534976	72534976	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:72534976G>A	ENST00000299290.1	-	8	1130	c.741C>T	c.(739-741)atC>atT	p.I247I	TBATA_ENST00000456372.2_Intron	NM_152710.2	NP_689923.2			thymus, brain and testes associated																		GCCAGAACTGGATTGCGCTTA	0.597000													7	29					0	0	0.003080	0	0
ZNF648	127665	broad.mit.edu	37	1	182026398	182026398	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:182026398A>G	ENST00000339948.3	-	2	955	c.748T>C	c.(748-750)Tac>Cac	p.Y250H		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						AGGCACCTGTAGGGACGCGCC	0.731000													4	5					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179426223	179426223	+	Silent	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179426223A>G	ENST00000589042.1	-	326	84860	c.84636T>C	c.(84634-84636)acT>acC	p.T28212T	TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Silent_p.T19147T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.T19272T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.T25644T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.T19339T|TTN_ENST00000591111.1_Silent_p.T26571T|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26571	Ig-like 131.						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)			CTTTCATTTGAGTATCAGCAA	0.363000													14	50					0	0	0.001855	0	0
PDGFRB	5159	broad.mit.edu	37	5	149506146	149506146	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:149506146G>A	ENST00000261799.4	-	11	2080	c.1611C>T	c.(1609-1611)gcC>gcT	p.A537A		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	537					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGGCCAGGATGGCTGAGATCA	0.582000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								12	33					0	0	0.013537	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136382	40136382	+	Silent	SNP	G	G	A	rs142652482		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:40136382G>A	ENST00000278198.2	-	2	3424	c.1461C>T	c.(1459-1461)acC>acT	p.T487T	LRRC4C_ENST00000527150.1_Silent_p.T487T|LRRC4C_ENST00000530763.1_Silent_p.T487T|LRRC4C_ENST00000528697.1_Silent_p.T487T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	487					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)				TGGTCACATTGGTGGTCTCCC	0.512000													12	32					0	0	0.010729	0	0
TDRD1	56165	broad.mit.edu	37	10	115970702	115970702	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:115970702G>A	ENST00000251864.2	+	13	1789	c.1636G>A	c.(1636-1638)Gat>Aat	p.D546N	TDRD1_ENST00000422662.1_Missense_Mutation_p.D207N|TDRD1_ENST00000369282.1_Missense_Mutation_p.D546N|TDRD1_ENST00000369281.2_Missense_Mutation_p.D546N|TDRD1_ENST00000369280.1_Missense_Mutation_p.D546N	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	546	Tudor 2.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AGCCATTGGTGATATATGTTG	0.353000													6	44					0	0	0.001168	0	0
OR5V1	81696	broad.mit.edu	37	6	29323781	29323781	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:29323781C>T	ENST00000377154.1	-	4	491	c.192G>A	c.(190-192)ggG>ggA	p.G64G	OR5V1_ENST00000543825.1_Silent_p.G64G			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGGCCAAGTTCCCTAGAAAAT	0.408000													53	104					0	0	0.014410	0	0
TM9SF1	10548	broad.mit.edu	37	14	24680673	24680673	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:24680673G>A	ENST00000556387.1	-	3	340	c.307C>T	c.(307-309)Ctt>Ttt	p.L103F	AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000542700.2_5'UTR|TM9SF1_ENST00000530611.1_Missense_Mutation_p.L103F|CHMP4A_ENST00000347519.6_Missense_Mutation_p.L146F			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	0					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		ATGGTACGAAGGACTTCTGCA	0.557000													3	12					0	0	0.004672	0	0
KCNAB1	7881	broad.mit.edu	37	3	155838490	155838490	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:155838490G>A	ENST00000490337.1	+	1	154	c.90G>A	c.(88-90)ggG>ggA	p.G30G	KCNAB1_ENST00000389636.5_Silent_p.G30G	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	30						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CTGTAGCAGGGAAAGACAAAT	0.557000													9	63					0	0	0.004482	0	0
IGDCC3	9543	broad.mit.edu	37	15	65625743	65625743	+	Silent	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:65625743A>G	ENST00000327987.4	-	6	1085	c.834T>C	c.(832-834)ccT>ccC	p.P278P	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	278	Ig-like C2-type 3.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCACCCCGATAGGGCGACCAT	0.567000													5	11					0	0	0.001168	0	0
TDRD5	163589	broad.mit.edu	37	1	179631338	179631338	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:179631338G>A	ENST00000444136.1	+	15	2672	c.2422G>A	c.(2422-2424)Gga>Aga	p.G808R	TDRD5_ENST00000367614.1_Missense_Mutation_p.G754R|TDRD5_ENST00000294848.8_Missense_Mutation_p.G754R	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	804					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GATGGGAAAAGGAGGTGATGC	0.453000													26	29					0	0	0.003954	0	0
ASTN1	460	broad.mit.edu	37	1	176926927	176926927	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:176926927C>T	ENST00000367654.2	-	11	1811	c.1798G>A	c.(1798-1800)Gag>Aag	p.E600K	ASTN1_ENST00000424564.2_Missense_Mutation_p.E592K|ASTN1_ENST00000367657.3_Missense_Mutation_p.E592K|ASTN1_ENST00000361833.2_Missense_Mutation_p.E592K|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	600					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AAGAGAACCTCCAGGCTGTCG	0.532000													10	15					0	0	0.006214	0	0
GABRP	2568	broad.mit.edu	37	5	170222290	170222290	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:170222290C>T	ENST00000518525.1	+	6	783	c.319C>T	c.(319-321)Ctg>Ttg	p.L107L	GABRP_ENST00000519385.1_Silent_p.L107L|GABRP_ENST00000519598.1_Silent_p.L107L|GABRP_ENST00000265294.4_Silent_p.L107L			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	107						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAGCTTCACTCTGGATGCCCG	0.557000													26	86					0	0	0.004656	0	0
GKN2	200504	broad.mit.edu	37	2	69173445	69173445	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:69173445C>T	ENST00000481498.1	-	5	481	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	GKN2_ENST00000328895.4_Missense_Mutation_p.E155K			Q86XP6	GKN2_HUMAN	gastrokine 2	155						extracellular region				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						CGTGTGTTTTCAACCACTTCC	0.443000													32	70					0	0	0.010818	0	0
ALOX12B	242	broad.mit.edu	37	17	7979644	7979644	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:7979644C>T	ENST00000319144.4	-	11	1641	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K	ALOX12B_ENST00000577351.1_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	461	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GCAAAGCCTTCCACGCCCAGG	0.617000										Multiple Myeloma(8;0.094)			3	5					0	0	0.004672	0	0
LRP5	4041	broad.mit.edu	37	11	68207320	68207320	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:68207320G>A	ENST00000294304.7	+	21	4530	c.4424G>A	c.(4423-4425)cGg>cAg	p.R1475Q		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1475					adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTCTACGACCGGAACCACGTC	0.721000													8	22					0	0	0.008291	0	0
SRPX2	27286	broad.mit.edu	37	X	99924355	99924355	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:99924355C>T	ENST00000373004.3	+	10	1634	c.1206C>T	c.(1204-1206)atC>atT	p.I402I		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	402					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CCAACATCATCGAGGAGCTCA	0.627000													4	7					0	0	0.000602	0	0
DYDC2	84332	broad.mit.edu	37	10	82126466	82126466	+	Missense_Mutation	SNP	C	C	T	rs139612342		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:82126466C>T	ENST00000372199.1	+	6	891	c.293C>T	c.(292-294)tCc>tTc	p.S98F	DYDC2_ENST00000372198.1_Missense_Mutation_p.S112F|DYDC2_ENST00000372197.1_Missense_Mutation_p.S98F|DYDC2_ENST00000256039.2_Missense_Mutation_p.S98F|DYDC2_ENST00000444807.2_Missense_Mutation_p.S98F			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	98							protein binding			breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			GAAACTGTTTCCACGAAGAAG	0.413000													21	68					0	0	0.012319	0	0
THEG	51298	broad.mit.edu	37	19	375875	375875	+	Silent	SNP	G	G	A	rs143456454		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:375875G>A	ENST00000342640.4	-	1	138	c.96C>T	c.(94-96)ctC>ctT	p.L32L	THEG_ENST00000346878.2_Silent_p.L32L	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	32					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CAGAGCTCTGGAGGCCACGGG	0.662000													12	31					0	0	0.013537	0	0
IL36G	56300	broad.mit.edu	37	2	113742450	113742450	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:113742450G>A	ENST00000259205.4	+	5	403	c.334G>A	c.(334-336)Gag>Aag	p.E112K	IL36G_ENST00000376489.2_Missense_Mutation_p.E77K	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	112					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						TGGCCAACCCGAGCCCGTGAA	0.493000													43	70					0	0	0.014410	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512467	68512467	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:68512467C>T	ENST00000370981.1	-	4	1150	c.514G>A	c.(514-516)Gag>Aag	p.E172K	DIRAS3_ENST00000395201.1_Missense_Mutation_p.E172K|GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	172					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CAATTCCACTCCATCGCACAG	0.527000													36	67					0	0	0.004289	0	0
HYPK	25764	broad.mit.edu	37	15	44092969	44092969	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:44092969C>T	ENST00000406925.1	+	2	4284	c.173C>T	c.(172-174)tCc>tTc	p.S58F	SERF2_ENST00000594896.1_Missense_Mutation_p.S104F|HYPK_ENST00000498605.1_3'UTR|HYPK_ENST00000458412.1_Missense_Mutation_p.S58F|HYPK_ENST00000442995.2_Missense_Mutation_p.S58F|SERF2_ENST00000600633.1_Missense_Mutation_p.S58F					huntingtin interacting protein K														all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;8.1e-07)		ATCCAGAGTTCCAATCTGGAG	0.632000													3	12					0	0	0.009096	0	0
CDHR1	92211	broad.mit.edu	37	10	85973023	85973023	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:85973023C>T	ENST00000372117.3	+	16	2062	c.1959C>T	c.(1957-1959)tcC>tcT	p.S653S	CDHR1_ENST00000440770.2_Silent_p.S357S|CDHR1_ENST00000332904.3_Silent_p.S653S	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	653	Cadherin 6.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GCCTATGGTCCCTAGAGGTGC	0.557000													20	85					0	0	0.003330	0	0
AHCYL2	23382	broad.mit.edu	37	7	129046260	129046260	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:129046260C>T	ENST00000325006.3	+	10	1302	c.1248C>T	c.(1246-1248)tcC>tcT	p.S416S	AHCYL2_ENST00000446212.1_Silent_p.S314S|AHCYL2_ENST00000490911.1_Silent_p.S313S|AHCYL2_ENST00000474594.1_Silent_p.S313S|AHCYL2_ENST00000446544.2_Silent_p.S415S|AHCYL2_ENST00000531335.2_Silent_p.S335S	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	416					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						CCATGGGCTCCATTGTGTATG	0.493000													33	66					0	0	0.004289	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159604006	159604006	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:159604006G>A	ENST00000337808.6	+	4	1466	c.889G>A	c.(889-891)Ggg>Agg	p.G297R	IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.G65R|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.G284R|SCHIP1_ENST00000445224.2_Missense_Mutation_p.G54R|IQCJ-SCHIP1_ENST00000460298.1_Missense_Mutation_p.G257R|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.G346R|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.G373R|SCHIP1_ENST00000482804.1_Missense_Mutation_p.G70R	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN		297						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						ACTGCAGAGTGGGATGAACTT	0.448000													33	26					0	0	0.013726	0	0
NUP210L	91181	broad.mit.edu	37	1	154026848	154026848	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:154026848G>A	ENST00000368559.3	-	25	3410	c.3339C>T	c.(3337-3339)atC>atT	p.I1113I	NUP210L_ENST00000368553.1_Silent_p.I46I|NUP210L_ENST00000271854.3_Silent_p.I1113I	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1113						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGAAGTGAACGATGGATTGGG	0.473000													22	40					0	0	0.012319	0	0
RAC1	5879	broad.mit.edu	37	7	6426907	6426907	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:6426907C>T	ENST00000348035.4	+	2	313	c.100C>T	c.(100-102)Cct>Tct	p.P34S	RAC1_ENST00000356142.4_Missense_Mutation_p.P34S|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	34					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	AGAATATATCCCTACTGTGTA	0.363000													22	74					0	0	0.004656	0	0
KIF20B	9585	broad.mit.edu	37	10	91474755	91474755	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:91474755C>T	ENST00000416354.1	+	8	828	c.756C>T	c.(754-756)tcC>tcT	p.S252S	KIF20B_ENST00000371728.3_Silent_p.S252S|KIF20B_ENST00000260753.4_Silent_p.S252S|KIF20B_ENST00000394289.2_Silent_p.S252S			Q96Q89	KI20B_HUMAN	kinesin family member 20B	252	Kinesin-motor.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TTGAAGAATCCATAAAAGATT	0.274000													8	26					0	0	0.006214	0	0
TRIM54	57159	broad.mit.edu	37	2	27528634	27528634	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:27528634G>A	ENST00000296098.4	+	6	1188	c.918G>A	c.(916-918)gtG>gtA	p.V306V	TRIM54_ENST00000380075.2_Silent_p.V264V	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	264	COS.				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTAAGCTGGTGGAGTCTGCCA	0.647000													3	7					0	0	0.000602	0	0
CUL9	23113	broad.mit.edu	37	6	43172719	43172719	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:43172719C>T	ENST00000252050.4	+	23	4582	c.4498C>T	c.(4498-4500)Cgt>Tgt	p.R1500C	CUL9_ENST00000372647.2_Missense_Mutation_p.R1500C|CUL9_ENST00000354495.3_Missense_Mutation_p.R1390C	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1500					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTTTGTGCCTCGTTACTGTAA	0.577000													49	86					0	0	0.014410	0	0
DNAH10	196385	broad.mit.edu	37	12	124387580	124387580	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:124387580C>T	ENST00000409039.3	+	56	9406	c.9381C>T	c.(9379-9381)acC>acT	p.T3127T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3127	Stalk (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)		CCGAGACGACCCTGGCAGAGG	0.567000													9	6					0	0	0.004482	0	0
OR6X1	390260	broad.mit.edu	37	11	123624392	123624392	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:123624392G>A	ENST00000327930.2	-	1	861	c.835C>T	c.(835-837)Ctc>Ttc	p.L279F		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGGGGGGTGAGGATAGTATTT	0.448000													22	35					0	0	0.010504	0	0
CDC20B	166979	broad.mit.edu	37	5	54420698	54420698	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:54420698G>A	ENST00000296733.1	-	9	1322	c.1148C>T	c.(1147-1149)cCc>cTc	p.P383L	CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000322374.6_Missense_Mutation_p.P383L|CDC20B_ENST00000381375.2_Missense_Mutation_p.P383L	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	cell division cycle 20B	383										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			TGGATCGTGGGGCCATATTGT	0.542000													15	34					0	0	0.002450	0	0
ABCB9	23457	broad.mit.edu	37	12	123433332	123433332	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:123433332C>T	ENST00000542678.1	-	5	3730	c.892G>A	c.(892-894)Gac>Aac	p.D298N	ABCB9_ENST00000344275.7_Missense_Mutation_p.D298N|ABCB9_ENST00000442833.2_Missense_Mutation_p.D298N|ABCB9_ENST00000280560.8_Missense_Mutation_p.D298N|ABCB9_ENST00000392439.3_Missense_Mutation_p.D298N|ABCB9_ENST00000346530.5_Missense_Mutation_p.D298N|ABCB9_ENST00000442028.2_Missense_Mutation_p.D298N|ABCB9_ENST00000540285.1_Missense_Mutation_p.D298N			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	298	ABC transmembrane type-1.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GAGACCAGGTCGCTGACCATG	0.617000													18	12					0	0	0.010504	0	0
ABCA8	10351	broad.mit.edu	37	17	66928482	66928482	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:66928482C>T	ENST00000269080.2	-	6	881	c.744G>A	c.(742-744)agG>agA	p.R248R	ABCA8_ENST00000430352.2_Silent_p.R248R|ABCA8_ENST00000586539.1_Silent_p.R248R	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	248						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TCATCCTTTTCCTCTCTCTTG	0.388000													10	12					0	0	0.006214	0	0
MARK1	4139	broad.mit.edu	37	1	220824045	220824045	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:220824045G>A	ENST00000402574.1	+	14	2151	c.1149G>A	c.(1147-1149)caG>caA	p.Q383Q	MARK1_ENST00000366917.4_Silent_p.Q518Q|MARK1_ENST00000366918.4_Silent_p.Q496Q	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	518					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TAGCATTGCAGAATGGAAAAG	0.428000													36	72					0	0	0.006999	0	0
KIAA1244	57221	broad.mit.edu	37	6	138601144	138601144	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:138601144C>T	ENST00000251691.4	+	14	2470	c.2304C>T	c.(2302-2304)ttC>ttT	p.F768F		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	768	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGAAGGACTTCATGAAGCAGG	0.547000													16	39					0	0	0.006122	0	0
DCLK1	9201	broad.mit.edu	37	13	36428682	36428682	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:36428682G>A	ENST00000255448.4	-	6	1200	c.989C>T	c.(988-990)tCg>tTg	p.S330L	DCLK1_ENST00000379893.1_Missense_Mutation_p.S23L|DCLK1_ENST00000460982.1_5'UTR|DCLK1_ENST00000379892.4_Missense_Mutation_p.S330L|DCLK1_ENST00000360631.3_Missense_Mutation_p.S330L	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	330	Pro/Ser-rich.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TGGGCTTGGCGACTTGCCTGA	0.493000													8	51					0	0	0.006214	0	0
VWF	7450	broad.mit.edu	37	12	6094217	6094217	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:6094217C>T	ENST00000261405.5	-	40	7224	c.6970G>A	c.(6970-6972)Gag>Aag	p.E2324K		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2324	VWFC 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ATACCACACTCATACTCGGGG	0.607000													35	27					0	0	0.006230	0	0
MAGI1	9223	broad.mit.edu	37	3	65464362	65464362	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:65464362C>T	ENST00000330909.8	-	4	661	c.662G>A	c.(661-663)cGa>cAa	p.R221Q	MAGI1_ENST00000402939.2_Missense_Mutation_p.R221Q|MAGI1_ENST00000483466.1_Missense_Mutation_p.R221Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000497477.2_Missense_Mutation_p.R221Q	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	221	Guanylate kinase-like.				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)		GGACTTGGTTCGCTTCGGGGT	0.527000													37	73					0	0	0.004289	0	0
SCIN	85477	broad.mit.edu	37	7	12666397	12666397	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:12666397G>A	ENST00000297029.5	+	8	1271	c.1170G>A	c.(1168-1170)atG>atA	p.M390I	SCIN_ENST00000519209.1_Missense_Mutation_p.M143I|SCIN_ENST00000473722.1_3'UTR|SCIN_ENST00000445618.2_Missense_Mutation_p.M143I	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	390	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		AGCACAATATGGTGGATGATG	0.438000													3	9					0	0	0.004672	0	0
ZNF280D	54816	broad.mit.edu	37	15	56993168	56993168	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:56993168G>A	ENST00000559237.1	-	5	988	c.305C>T	c.(304-306)tCa>tTa	p.S102L	ZNF280D_ENST00000558320.1_Missense_Mutation_p.S115L|ZNF280D_ENST00000267807.7_Missense_Mutation_p.S115L|ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000559000.1_Missense_Mutation_p.S102L	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		AGAACTATCTGAAGATCTAGA	0.388000													6	21					0	0	0.001984	0	0
DNAH7	56171	broad.mit.edu	37	2	196851790	196851790	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:196851790C>T	ENST00000312428.6	-	14	1854	c.1754_splice	c.e14+1	p.R585_splice		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	585	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACATAAATACCTTGTATTTAC	0.343000													24	45					0	0	0.006320	0	0
SPTBN1	6711	broad.mit.edu	37	2	54858619	54858619	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:54858619G>A	ENST00000333896.5	+	15	3781	c.3396G>A	c.(3394-3396)caG>caA	p.Q1132Q	SPTBN1_ENST00000356805.4_Silent_p.Q1145Q	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1145					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGCGGCTGCAGGCCCTGGACA	0.562000													15	79					0	0	0.003163	0	0
PLOD2	5352	broad.mit.edu	37	3	145828077	145828077	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:145828077G>A	ENST00000282903.5	-	4	674	c.497C>T	c.(496-498)tCa>tTa	p.S166L	PLOD2_ENST00000360060.3_Missense_Mutation_p.S166L|PLOD2_ENST00000494950.1_Missense_Mutation_p.S111L	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	166					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CTCACCTCCTGAATTCAGATA	0.358000													13	44					0	0	0.003163	0	0
TSPAN2	10100	broad.mit.edu	37	1	115593133	115593133	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:115593133C>T	ENST00000369516.2	-	8	675	c.644G>A	c.(643-645)cGa>cAa	p.R215Q	TSPAN2_ENST00000491992.1_5'UTR|TSPAN2_ENST00000369514.2_Missense_Mutation_p.R187Q|TSPAN2_ENST00000369515.2_Missense_Mutation_p.R190Q	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	215						integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TCGTGAGTTTCGTATCGCACA	0.398000													6	40					0	0	0.001984	0	0
HPS4	89781	broad.mit.edu	37	22	26860329	26860329	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:26860329T>C	ENST00000398145.2	-	11	1883	c.1267A>G	c.(1267-1269)Agc>Ggc	p.S423G	HPS4_ENST00000402105.3_Missense_Mutation_p.S418G|HPS4_ENST00000336873.5_Missense_Mutation_p.S423G|HPS4_ENST00000398141.1_Missense_Mutation_p.S436G	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	423					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						CGCAAGCTGCTGATGGCTGTG	0.617000									Hermansky-Pudlak syndrome				28	73					0	0	0.005443	0	0
CD177	57126	broad.mit.edu	37	19	43866322	43866322	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:43866322G>A	ENST00000378009.4	+	0	1325				CTC-490G23.4_ENST00000607109.1_RNA|CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				GACAAATCGGGATCTTCTCTG	0.592000													29	69					0	0	0.003271	0	0
SMTN	6525	broad.mit.edu	37	22	31487081	31487081	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:31487081C>T	ENST00000333137.7	+	10	1290	c.1072C>T	c.(1072-1074)Ccc>Tcc	p.P358S	SMTN_ENST00000358743.1_Missense_Mutation_p.P358S|SMTN_ENST00000347557.2_Missense_Mutation_p.P358S	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	358					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						TGCCCTAAGTCCCCTGACCCC	0.662000													7	51					0	0	0.004482	0	0
SPTA1	6708	broad.mit.edu	37	1	158650416	158650416	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158650416C>T	ENST00000368148.3	-	5	815	c.635G>A	c.(634-636)gGg>gAg	p.G212E	SPTA1_ENST00000368147.3_Missense_Mutation_p.G212E	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	212					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.G212V(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AACAACTCTCCCTTCTTTAGC	0.463000													33	91					0	0	0.003755	0	0
SH3RF3	344558	broad.mit.edu	37	2	110049065	110049065	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:110049065G>A	ENST00000309415.6	+	6	1512	c.1512G>A	c.(1510-1512)ggG>ggA	p.G504G		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	504	SH3 3.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GGTTCAAGGGGGCGTCTCTGA	0.622000													6	13					0	0	0.001984	0	0
PCCA	5095	broad.mit.edu	37	13	100807310	100807310	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:100807310C>T	ENST00000376285.1	+	5	416	c.378C>T	c.(376-378)gcC>gcT	p.A126A	PCCA_ENST00000376286.4_Silent_p.A100A|PCCA_ENST00000485946.1_3'UTR|PCCA_ENST00000376279.3_Silent_p.A126A	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	126	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	ACATGGATGCCATCATGGAAG	0.458000													5	99					0	0	0.001168	0	0
GUCA1A	2978	broad.mit.edu	37	6	42147103	42147103	+	Missense_Mutation	SNP	G	G	A	rs137984482		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:42147103G>A	ENST00000394237.1	+	6	1544	c.568G>A	c.(568-570)Gag>Aag	p.E190K	GUCA1A_ENST00000541991.1_Missense_Mutation_p.E190K|GUCA1A_ENST00000372958.1_Missense_Mutation_p.E190K|GUCA1A_ENST00000053469.4_Missense_Mutation_p.E190K			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	190					signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGAGCAAGACGAGGAGGGGGC	0.642000													5	9					0	0	0.000602	0	0
MMP26	56547	broad.mit.edu	37	11	5010967	5010967	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5010967G>A	ENST00000380390.1	+	3	405	c.189G>A	c.(187-189)cgG>cgA	p.R63R	MMP26_ENST00000300762.1_Silent_p.R63R|MMP26_ENST00000477339.1_3'UTR			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	63					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		AATTCCATCGGAATGGGACAG	0.522000													6	25					0	0	0.001168	0	0
FNDC3B	64778	broad.mit.edu	37	3	171965461	171965461	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:171965461C>T	ENST00000336824.4	+	5	502	c.403C>T	c.(403-405)Cat>Tat	p.H135Y	FNDC3B_ENST00000415807.2_Missense_Mutation_p.H135Y|FNDC3B_ENST00000416957.1_Missense_Mutation_p.H135Y	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	135						endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ACATTTTATTCATAACTCACA	0.507000													25	89					0	0	0.003954	0	0
ANO2	57101	broad.mit.edu	37	12	5963220	5963220	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:5963220G>A	ENST00000356134.5	-	4	681	c.610C>T	c.(610-612)Cct>Tct	p.P204S	ANO2_ENST00000546188.1_Missense_Mutation_p.P204S|ANO2_ENST00000327087.8_Missense_Mutation_p.P204S	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	208						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TTCTTGGTAGGAACTTTGATC	0.507000													83	68					0	0	0.014410	0	0
CAP2	10486	broad.mit.edu	37	6	17426833	17426833	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:17426833C>T	ENST00000229922.2	+	3	666	c.134C>T	c.(133-135)tCc>tTc	p.S45F	CAP2_ENST00000378990.2_Missense_Mutation_p.S45F|CAP2_ENST00000489374.1_Missense_Mutation_p.S45F|CAP2_ENST00000465994.1_Missense_Mutation_p.S45F|CAP2_ENST00000493172.1_Missense_Mutation_p.S45F	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	45					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			GTGGCACCCTCCGTGGAAGCC	0.522000													11	54					0	0	0.013537	0	0
LGSN	51557	broad.mit.edu	37	6	63990547	63990547	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:63990547G>A	ENST00000370657.4	-	4	942	c.909C>T	c.(907-909)ttC>ttT	p.F303F	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	303					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	CAGTCTCAATGAAGAAGCTGG	0.423000													10	23					0	0	0.006214	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43474338	43474338	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:43474338G>A	ENST00000532038.1	-	10	1364	c.1229C>T	c.(1228-1230)tCg>tTg	p.S410L	ARHGAP27_ENST00000455881.1_Missense_Mutation_p.S291L|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.S610L|CTB-39G8.3_ENST00000592389.1_RNA|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.S264L|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.S291L|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.S605L|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.S632L			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	632					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					GCGCTCGCTCGACCCGAAGTC	0.667000													45	23					0	0	0.014410	0	0
TRIM68	55128	broad.mit.edu	37	11	4624525	4624525	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:4624525C>T	ENST00000300747.5	-	3	761	c.472G>A	c.(472-474)Gag>Aag	p.E158K		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	158					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTCCAGGCCTCTTCTTGCTCT	0.542000													10	52					0	0	0.008291	0	0
LAMP3	27074	broad.mit.edu	37	3	182858380	182858380	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:182858380C>T	ENST00000265598.3	-	4	1147	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	LAMP3_ENST00000466939.1_Missense_Mutation_p.E274K	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	298					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TATGATTCTTCATCCTGTAAA	0.373000													29	31					0	0	0.012213	0	0
SALL1	6299	broad.mit.edu	37	16	51175867	51175867	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:51175867G>A	ENST00000251020.4	-	2	299	c.266C>T	c.(265-267)cCc>cTc	p.P89L	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_5'UTR	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	89					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ATCAGGAGGGGGGCTGGGGGA	0.438000													14	98					0	0	0.004007	0	0
DNAH5	1767	broad.mit.edu	37	5	13882846	13882846	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:13882846C>T	ENST00000265104.4	-	21	3357	c.3253G>A	c.(3253-3255)Gaa>Aaa	p.E1085K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1085	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTTGAAGTTCATTTTCTCCC	0.303000									Kartagener syndrome				9	29					0	0	0.006214	0	0
PLAA	9373	broad.mit.edu	37	9	26926415	26926415	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:26926415T>A	ENST00000397292.3	-	5	1126	c.709A>T	c.(709-711)Ata>Tta	p.I237L	PLAA_ENST00000520884.1_Missense_Mutation_p.I237L	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	237					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		AAAACGGATATGCTATAAATA	0.328000													19	59					0	0	0.010504	0	0
CDH2	1000	broad.mit.edu	37	18	25616441	25616441	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:25616441G>A	ENST00000399380.3	-	1	108	c.72C>T	c.(70-72)ttC>ttT	p.F24F	CDH2_ENST00000269141.3_Intron			P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	0					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TACCTGAAAGGAAAACATACA	0.313000													38	86					0	0	0.004289	0	0
NRXN3	9369	broad.mit.edu	37	14	79175824	79175824	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:79175824G>A	ENST00000554719.1	+	4	858	c.367G>A	c.(367-369)Gat>Aat	p.D123N	NRXN3_ENST00000335750.5_Missense_Mutation_p.D123N|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	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)		AGAGAGGAAGGATGCTCGGAG	0.517000													29	49					0	0	0.007291	0	0
PRODH2	58510	broad.mit.edu	37	19	36290948	36290948	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:36290948G>A	ENST00000301175.3	-	11	1620	c.1603C>T	c.(1603-1605)Ccc>Tcc	p.P535S		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	535					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCTAGTGGGGTATCCTTCGG	0.632000													7	16					0	0	0.004482	0	0
UBIAD1	29914	broad.mit.edu	37	1	11345804	11345804	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:11345804C>T	ENST00000376810.5	+	2	959	c.633C>T	c.(631-633)gcC>gcT	p.A211A	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	211					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		GGTCCCTGGCCATCTTCCCAC	0.592000													27	82					0	0	0.003271	0	0
FLG	2312	broad.mit.edu	37	1	152279679	152279679	+	Silent	SNP	C	C	T	rs143745201		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152279679C>T	ENST00000368799.1	-	3	7718	c.7683G>A	c.(7681-7683)agG>agA	p.R2561R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2561	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R2561R(1)|p.R2561S(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCCCCAGTTCCTGCTTGTCC	0.587000									Ichthyosis				65	168					0	0	0.014410	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834348	101834348	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:101834348C>T	ENST00000506729.1	-	1	372	c.201G>A	c.(199-201)agG>agA	p.R67R	SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000389019.3_Silent_p.R67R|SLCO6A1_ENST00000379807.3_Silent_p.R67R|SLCO6A1_ENST00000379810.1_Silent_p.R67R|SLCO6A1_ENST00000513675.1_Silent_p.R67R			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	67						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)		TGGCTTTTTTCCTTTTTCGGA	0.537000													27	73					0	0	0.008361	0	0
ABCB11	8647	broad.mit.edu	37	2	169792852	169792852	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:169792852C>T	ENST00000263817.6	-	22	2826	c.2702G>A	c.(2701-2703)aGc>aAc	p.S901N		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	901	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)	GATGACCAGGCTCAGCTTCCA	0.522000													15	28					0	0	0.002450	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916031	42916031	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:42916031G>A	ENST00000316161.4	-	1	1602	c.1278C>T	c.(1276-1278)atC>atT	p.I426I	KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron|CYP8B1_ENST00000437102.1_Silent_p.I426I	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	426					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		TGTAGTGGTGGATCTTCTTGC	0.542000													25	95					0	0	0.002780	0	0
TAS2R16	50833	broad.mit.edu	37	7	122634824	122634824	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:122634824C>T	ENST00000249284.2	-	1	930	c.865G>A	c.(865-867)Gga>Aga	p.G289R		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	289					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TAGCACTTTCCCTTTAGAATC	0.418000													37	67					0	0	0.004289	0	0
COL4A3	1285	broad.mit.edu	37	2	228122341	228122341	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:228122341C>T	ENST00000396578.3	+	18	1172	c.1010C>T	c.(1009-1011)cCt>cTt	p.P337L	AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	337	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GACATTGGCCCTCCAGGATTT	0.358000													7	38					0	0	0.004482	0	0
CADPS	8618	broad.mit.edu	37	3	62631473	62631473	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:62631473G>A	ENST00000383710.4	-	6	1598	c.1249C>T	c.(1249-1251)Cgc>Tgc	p.R417C	CADPS_ENST00000357948.3_Missense_Mutation_p.R417C|CADPS_ENST00000490353.2_Missense_Mutation_p.R417C|CADPS_ENST00000283269.9_Missense_Mutation_p.R417C	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	417	C2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TATACGATGCGATTTGGAGCC	0.473000													36	97					0	0	0.007835	0	0
ZNF699	374879	broad.mit.edu	37	19	9406741	9406741	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9406741A>T	ENST00000591998.1	-	6	1567	c.1339T>A	c.(1339-1341)Tat>Aat	p.Y447N	ZNF699_ENST00000308650.3_Missense_Mutation_p.Y447N			Q32M78	ZN699_HUMAN	zinc finger protein 699	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTACATTCATAGGGTTTCTCT	0.428000													11	29					0	0	0.010729	0	0
OR13H1	347468	broad.mit.edu	37	X	130678425	130678425	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:130678425C>T	ENST00000338616.3	+	1	476	c.378C>T	c.(376-378)atC>atT	p.I126I		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TGGTTGCTATCAGCAATCCCC	0.532000													54	19					0	0	0.014410	0	0
CACNA1B	774	broad.mit.edu	37	9	140953602	140953602	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:140953602C>T	ENST00000277549.5	+	31	4702	c.2133C>T	c.(2131-2133)tcC>tcT	p.S711S	CACNA1B_ENST00000371372.1_Silent_p.S1515S|CACNA1B_ENST00000371357.1_Silent_p.S1516S|CACNA1B_ENST00000277551.2_Silent_p.S1515S|CACNA1B_ENST00000371363.1_Silent_p.S1515S|CACNA1B_ENST00000371355.4_Silent_p.S1516S			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1515					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCATGTTCTCCATGGAATGCG	0.502000													19	11					0	0	0.003954	0	0
C14orf105	55195	broad.mit.edu	37	14	57938251	57938251	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:57938251C>T	ENST00000216445.3	-	6	849	c.713G>A	c.(712-714)tGg>tAg	p.W238*	C14orf105_ENST00000422976.2_Nonsense_Mutation_p.W278*|C14orf105_ENST00000534126.1_Nonsense_Mutation_p.W237*	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	238										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						GCCAATTTTCCAGGGACAGTA	0.388000													6	16					0	0	0.001984	0	0
SPARC	6678	broad.mit.edu	37	5	151045993	151045993	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:151045993C>G	ENST00000231061.4	-	8	976	c.663G>C	c.(661-663)gaG>gaC	p.E221D	SPARC_ENST00000537849.1_5'UTR	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	221					ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	TATAGTTCTTCTCGAAGTCCC	0.557000													21	47					0	0	0.014323	0	0
SPEG	10290	broad.mit.edu	37	2	220332071	220332071	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:220332071C>T	ENST00000312358.7	+	10	3189	c.3057C>T	c.(3055-3057)ttC>ttT	p.F1019F	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1019	Ig-like 4.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGATGCATTTCGATGGCCGCA	0.577000													17	68					0	0	0.004007	0	0
OR13F1	138805	broad.mit.edu	37	9	107267348	107267348	+	Missense_Mutation	SNP	G	G	A	rs140352060		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:107267348G>A	ENST00000334726.2	+	1	894	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGATTCACAGGAAATAGACAA	0.468000													16	34					0	0	0.003163	0	0
LPAR4	2846	broad.mit.edu	37	X	78010384	78010384	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:78010384C>T	ENST00000435339.2	+	2	423	c.18C>T	c.(16-18)ttC>ttT	p.F6F	RP11-475D8.1_ENST00000514744.1_RNA|LPAR4_ENST00000373301.2_Silent_p.F6F	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	6						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						ACAGAAGATTCATTGACTTCC	0.438000													15	20					0	0	0.003163	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563698	140563698	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140563698G>A	ENST00000361016.2	+	1	2719	c.1564G>A	c.(1564-1566)Gag>Aag	p.E522K		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		522	Cadherin 5.				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)			GCTGGACTACGAGGCCCTGCG	0.701000													15	62					0	0	0.003163	0	0
ARG2	384	broad.mit.edu	37	14	68114885	68114885	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:68114885G>A	ENST00000261783.3	+	7	1024	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	VTI1B_ENST00000554659.1_3'UTR	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	282					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TATTGCTGAGGAAATACACAA	0.443000													4	40					0	0	0.009096	0	0
COL11A1	1301	broad.mit.edu	37	1	103444981	103444981	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:103444981C>T	ENST00000358392.2	-	32	2920	c.2603G>A	c.(2602-2604)gGa>gAa	p.G868E	COL11A1_ENST00000353414.4_Missense_Mutation_p.G817E|COL11A1_ENST00000370096.3_Missense_Mutation_p.G856E|COL11A1_ENST00000512756.1_Missense_Mutation_p.G740E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	856	Triple-helical region.				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	p.G868V(1)|p.G856V(1)		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)		CCCAGGGAATCCAGTGGAACC	0.338000													9	23					0	0	0.008291	0	0
GJB5	2709	broad.mit.edu	37	1	35223146	35223146	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:35223146C>T	ENST00000338513.1	+	2	388	c.215C>T	c.(214-216)tCc>tTc	p.S72F		NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	72					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				TTCCCTGTGTCCCATGTGCGC	0.602000													7	60					0	0	0.004482	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110471922	110471922	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:110471922G>A	ENST00000378402.5	+	47	7207	c.7103G>A	c.(7102-7104)gGa>gAa	p.G2368E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2368					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)			ACACACTTAGGAATTACGGTC	0.373000										HNSCC(38;0.096)			3	12					0	0	0.004672	0	0
UNC93A	54346	broad.mit.edu	37	6	167705012	167705012	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:167705012C>T	ENST00000230256.3	+	1	210	c.35C>T	c.(34-36)tCc>tTc	p.S12F	UNC93A_ENST00000366829.2_Missense_Mutation_p.S12F|UNC93A_ENST00000366830.2_3'UTR	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	12						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CTTGTGGTTTCCTTTGGGTTC	0.453000													25	51					0	0	0.005443	0	0
BRINP3	339479	broad.mit.edu	37	1	190424004	190424004	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:190424004C>T	ENST00000367462.3	-	2	248	c.17G>A	c.(16-18)aGa>aAa	p.R6K	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		6						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGCACCAGCTCTGCTTCGCCA	0.468000													9	15					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179404821	179404821	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179404821C>T	ENST00000589042.1	-	351	98296	c.98072G>A	c.(98071-98073)gGa>gAa	p.G32691E	TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G23626E|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G23751E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G30123E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G23818E|TTN_ENST00000591111.1_Missense_Mutation_p.G31050E|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31050	Ig-like 144.						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)			TTTGACTGTTCCTGGTACCTC	0.468000													24	96					0	0	0.003954	0	0
COL3A1	1281	broad.mit.edu	37	2	189863020	189863020	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:189863020G>A	ENST00000304636.3	+	28	2122	c.1952G>A	c.(1951-1953)gGa>gAa	p.G651E	COL3A1_ENST00000317840.5_Missense_Mutation_p.G651E	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	651	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGTCCTCCAGGAGAAAATGGA	0.363000													12	27					0	0	0.013537	0	0
MYO16	23026	broad.mit.edu	37	13	109707925	109707925	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:109707925T>C	ENST00000356711.2	+	27	3377	c.3251T>C	c.(3250-3252)tTc>tCc	p.F1084S	MYO16_ENST00000357550.2_Missense_Mutation_p.F1084S|MYO16_ENST00000457511.2_Missense_Mutation_p.F596S	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1084	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CGCCTTTCCTTCTCGGATTTC	0.433000													13	83					0	0	0.004990	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809104	18809104	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:18809104C>T	ENST00000400664.1	+	1	1681	c.1629C>T	c.(1627-1629)ttC>ttT	p.F543F		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	543						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATTATCTCTTCGTGGTGTCCG	0.667000													24	40					0	0	0.003330	0	0
CCDC88C	440193	broad.mit.edu	37	14	91875016	91875016	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:91875016T>A	ENST00000389857.6	-	3	343	c.257A>T	c.(256-258)aAg>aTg	p.K86M	CCDC88C_ENST00000389856.5_Missense_Mutation_p.K78M|CCDC88C_ENST00000554165.1_5'UTR|CCDC88C_ENST00000553403.1_Missense_Mutation_p.K86M	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	86					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GTAGTAGGTCTTAATGTTTCT	0.483000													5	28					0	0	0.000602	0	0
OR2K2	26248	broad.mit.edu	37	9	114090020	114090020	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:114090020C>T	ENST00000374428.1	-	1	780	c.781G>A	c.(781-783)Gga>Aga	p.G261R	OR2K2_ENST00000302681.1_Missense_Mutation_p.G232R			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						TTGTTTCTTCCCTCTGCTGAG	0.443000													5	18					0	0	0.001168	0	0
TMEM45A	55076	broad.mit.edu	37	3	100277280	100277280	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:100277280G>A	ENST00000403410.1	+	6	1103	c.483G>A	c.(481-483)cgG>cgA	p.R161R	TMEM45A_ENST00000323523.4_Silent_p.R145R			Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	145						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						CTCATGGCCGGGAAATGCTGG	0.483000													10	74					0	0	0.006214	0	0
ZNF251	90987	broad.mit.edu	37	8	145947750	145947750	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:145947750G>A	ENST00000292562.7	-	5	1570	c.1295C>T	c.(1294-1296)cCc>cTc	p.P432L	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		ACAAACATAGGGTTTTTCTCC	0.458000													29	56					0	0	0.008361	0	0
GSTM3	2947	broad.mit.edu	37	1	110280150	110280150	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:110280150G>A	ENST00000540225.1	-	8	818	c.508C>T	c.(508-510)Cag>Tag	p.Q170*	GSTM3_ENST00000256594.3_Nonsense_Mutation_p.Q170*|GSTM3_ENST00000488824.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA|GSTM3_ENST00000361066.2_Nonsense_Mutation_p.Q170*			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)	170	GST C-terminal.				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	ATACGGTTCTGATCCAAGATA	0.438000													5	78					0	0	0.001984	0	0
CNGA3	1261	broad.mit.edu	37	2	98996729	98996729	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:98996729C>T	ENST00000393504.1	+	4	724	c.307C>T	c.(307-309)Cgt>Tgt	p.R103C	CNGA3_ENST00000272602.2_Missense_Mutation_p.R103C|CNGA3_ENST00000436404.2_Missense_Mutation_p.R103C|CNGA3_ENST00000409937.1_Missense_Mutation_p.R107C	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	103					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						TGATCGTTTCCGTGGAGCCGA	0.597000													20	31					0	0	0.010504	0	0
TPGS2	25941	broad.mit.edu	37	18	34376949	34376949	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:34376949G>A	ENST00000334295.4	-	7	1149	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TPGS2_ENST00000590652.1_Intron|TPGS2_ENST00000590842.1_Intron|TPGS2_ENST00000587129.1_Intron|TPGS2_ENST00000383056.3_Missense_Mutation_p.S198F|TPGS2_ENST00000593035.1_Missense_Mutation_p.S206F	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	241						cytoplasm|microtubule											ATTCACAAAGGAGTCGGTCTC	0.443000													23	99					0	0	0.014323	0	0
WDR49	151790	broad.mit.edu	37	3	167240194	167240194	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:167240194C>T	ENST00000308378.3	-	12	1932	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	WDR49_ENST00000476376.1_Missense_Mutation_p.E368K|WDR49_ENST00000453925.2_Intron|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	543										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AAAGAAATTTCCTTTTGAATC	0.318000													17	33					0	0	0.004990	0	0
UNC93B1	81622	broad.mit.edu	37	11	67765196	67765196	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:67765196G>A	ENST00000227471.2	-	7	934	c.855C>T	c.(853-855)ctC>ctT	p.L285L	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	285					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											CCACCACAATGAGGTTTCCGC	0.647000													8	29					0	0	0.003080	0	0
SCNN1G	6340	broad.mit.edu	37	16	23197607	23197607	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:23197607G>A	ENST00000300061.2	+	2	158	c.15G>A	c.(13-15)gaG>gaA	p.E5E		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	5					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CACCCGGAGAGAAGATCAAAG	0.587000													8	25					0	0	0.003080	0	0
OR52A1	23538	broad.mit.edu	37	11	5173510	5173510	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5173510C>T	ENST00000380367.1	-	2	507	c.90G>A	c.(88-90)ggG>ggA	p.G30G	OR52A1_ENST00000328942.1_Silent_p.G30G			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	30					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAATGGAATCCCAATCCAGC	0.458000													15	30					0	0	0.002450	0	0
KRT3	3850	broad.mit.edu	37	12	53186500	53186500	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:53186500C>T	ENST00000417996.2	-	4	1092	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N	KRT3_ENST00000309505.3_Missense_Mutation_p.D340N	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	340	Coil 1B.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CTTACAGCGTCGTAGAGGGTC	0.473000													99	73					0	0	0.014410	0	0
CLTCL1	8218	broad.mit.edu	37	22	19203732	19203732	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:19203732G>A	ENST00000263200.10	-	19	3026	c.2954C>T	c.(2953-2955)cCt>cTt	p.P985L	CLTCL1_ENST00000353891.5_Missense_Mutation_p.P985L|CLTCL1_ENST00000427926.1_Missense_Mutation_p.P985L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	985	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AATCTCTTCAGGATCCCGTGT	0.403000			T	?	ALCL								19	30					0	0	0.008871	0	0
STEAP4	79689	broad.mit.edu	37	7	87912231	87912231	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:87912231G>A	ENST00000380079.4	-	3	810	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C	AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Intron|STEAP4_ENST00000414498.1_Missense_Mutation_p.R237C|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000595121.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	237					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					ATAGCCATACGAAATGTATTA	0.363000													10	39					0	0	0.010729	0	0
HECTD1	25831	broad.mit.edu	37	14	31598524	31598524	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:31598524G>A	ENST00000399332.1	-	25	4541	c.4053C>T	c.(4051-4053)tcC>tcT	p.S1351S	HECTD1_ENST00000553700.1_Silent_p.S1351S	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1351	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTGAAACAGTGGATGAAACAG	0.493000													50	49					0	0	0.014410	0	0
UNC13C	440279	broad.mit.edu	37	15	54586115	54586115	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:54586115C>T	ENST00000545554.1	+	10	3841	c.3841C>T	c.(3841-3843)Cga>Tga	p.R1281*	UNC13C_ENST00000260323.11_Nonsense_Mutation_p.R1281*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.R1279*			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1281	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTCCACAGATCGAATCAAAGT	0.323000													4	41					0	0	0.009096	0	0
FGL2	10875	broad.mit.edu	37	7	76825644	76825644	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:76825644G>A	ENST00000248598.5	-	2	1304	c.1272C>T	c.(1270-1272)tcC>tcT	p.S424S	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	424	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CCTCTTTGAAGGAGGACTTGT	0.438000													4	35					0	0	0.009096	0	0
CIC	23152	broad.mit.edu	37	19	42798877	42798877	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:42798877C>T	ENST00000572681.2	+	20	7235	c.7167C>T	c.(7165-7167)ttC>ttT	p.F2389F	CIC_ENST00000160740.3_Silent_p.F1481F|CIC_ENST00000575354.2_Silent_p.F1483F			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACCATGGCTTCTTCCCGTCAG	0.592000			"""Mis, F, S"""		oligodendroglioma								29	54					0	0	0.013726	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858327	9858327	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:9858327G>A	ENST00000396573.2	-	14	3383	c.3074C>T	c.(3073-3075)tCa>tTa	p.S1025L	GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1025L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.S868L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.S1025L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1025L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.S1025L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1025					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.S1025L(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTGGGATAGTGAATCCTGGCG	0.542000													28	114					0	0	0.009535	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70712964	70712964	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:70712964C>T	ENST00000530196.1	-	0	1554					NR_003951.1																						TCTGGAAGGTCACATTCATTG	0.483000													18	20					0	0	0.004990	0	0
GBP5	115362	broad.mit.edu	37	1	89729432	89729432	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:89729432C>T	ENST00000343435.5	-	9	1885	c.1349G>A	c.(1348-1350)cGg>cAg	p.R450Q	GBP5_ENST00000370459.3_Missense_Mutation_p.R450Q|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000481145.1_5'UTR	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	450						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TATTCCTTTCCGAGGCTCCCG	0.433000													35	64					0	0	0.006230	0	0
ARMC4	55130	broad.mit.edu	37	10	28224012	28224012	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:28224012C>T	ENST00000305242.5	-	16	2514	c.2422G>A	c.(2422-2424)Gga>Aga	p.G808R	ARMC4_ENST00000545014.1_Missense_Mutation_p.G333R|ARMC4_ENST00000537576.1_Missense_Mutation_p.G500R	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	808							binding	p.G808R(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGGTTTATTCCAACAAGGAGG	0.458000													20	59					0	0	0.008871	0	0
NLRP4	147945	broad.mit.edu	37	19	56372834	56372834	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:56372834G>A	ENST00000301295.6	+	4	2361	c.1939G>A	c.(1939-1941)Gac>Aac	p.D647N	NLRP4_ENST00000587891.1_Missense_Mutation_p.D572N|NLRP4_ENST00000346986.5_Missense_Mutation_p.D647N	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	647							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCAGGTGCAGGACAGCACCCT	0.567000													19	40					0	0	0.008871	0	0
ZNF582	147948	broad.mit.edu	37	19	56895941	56895941	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:56895941G>A	ENST00000301310.4	-	5	1003	c.845C>T	c.(844-846)cCc>cTc	p.P282L	ZNF582_ENST00000586929.1_Missense_Mutation_p.P282L	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		ACACTGATAGGGTTTCTCGCC	0.418000													10	37					0	0	0.010729	0	0
SPINK5	11005	broad.mit.edu	37	5	147506639	147506639	+	Silent	SNP	T	T	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:147506639T>G	ENST00000359874.3	+	31	3124	c.3051T>G	c.(3049-3051)tcT>tcG	p.S1017S	SPINK5_ENST00000256084.7_Silent_p.S987S	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	987	Kazal-like 15.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTCAGTTCTCTGGTAAGGA	0.388000													6	19					0	0	0.003080	0	0
FCER1A	2205	broad.mit.edu	37	1	159275788	159275788	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:159275788C>T	ENST00000368115.1	+	5	441	c.342C>T	c.(340-342)ctC>ctT	p.L114L	FCER1A_ENST00000368114.1_Silent_p.L81L	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	114	Ig-like 2.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	ACTGGCTGCTCCTTCAGGCCT	0.453000													14	22					0	0	0.002450	0	0
PWWP2A	114825	broad.mit.edu	37	5	159520276	159520276	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:159520276G>A	ENST00000456329.3	-	2	1415	c.1381C>T	c.(1381-1383)Cga>Tga	p.R461*	PWWP2A_ENST00000307063.7_Nonsense_Mutation_p.R461*|PWWP2A_ENST00000523662.1_Nonsense_Mutation_p.R461*	NM_052927.2	NP_443159.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	461										kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	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)			TTCTGATATCGACGTGTGAAA	0.418000													6	23					0	0	0.001984	0	0
PLCB4	5332	broad.mit.edu	37	20	9416235	9416235	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:9416235G>A	ENST00000378501.2	+	25	2532	c.2517G>A	c.(2515-2517)aaG>aaA	p.K839K	PLCB4_ENST00000378493.1_Silent_p.K839K|PLCB4_ENST00000414679.2_Silent_p.K851K|PLCB4_ENST00000278655.4_Silent_p.K839K|PLCB4_ENST00000378473.3_Silent_p.K851K|PLCB4_ENST00000334005.3_Silent_p.K839K|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	839					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.K839N(1)		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						CAGATCCAAAGAAATTTCTCT	0.363000													22	47					0	0	0.012319	0	0
GPC3	2719	broad.mit.edu	37	X	132730510	132730510	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:132730510C>T	ENST00000370818.3	-	7	1976	c.1531G>A	c.(1531-1533)Gat>Aat	p.D511N	GPC3_ENST00000394299.2_Missense_Mutation_p.D534N|GPC3_ENST00000543339.1_Missense_Mutation_p.D457N	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	511						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					ATCATTCCATCACCAGAGCCT	0.428000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				38	23					0	0	0.009718	0	0
MCUR1	63933	broad.mit.edu	37	6	13801537	13801537	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:13801537G>A	ENST00000379170.4	-	4	862	c.724C>T	c.(724-726)Ctc>Ttc	p.L242F		NM_001031713.3	NP_001026883.1			mitochondrial calcium uniporter regulator 1																		TCTGCTCTGAGGGCTGAAAAT	0.333000													36	103					0	0	0.011902	0	0
AMOTL2	51421	broad.mit.edu	37	3	134089734	134089734	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:134089734G>A	ENST00000514516.1	-	2	894	c.716C>T	c.(715-717)tCc>tTc	p.S239F	AMOTL2_ENST00000513145.1_Missense_Mutation_p.S181F|AMOTL2_ENST00000511759.1_Intron|AMOTL2_ENST00000249883.5_Missense_Mutation_p.S181F|AMOTL2_ENST00000422605.2_Missense_Mutation_p.S181F	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	181										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GAAGCTGTGGGAGGAGCTCAT	0.697000													11	22					0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179590236	179590236	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179590236C>T	ENST00000589042.1	-	71	20919	c.20695G>A	c.(20695-20697)Gaa>Aaa	p.E6899K	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E5655K|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E6582K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6582	Ig-like 50.						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)			CTGATGTTTTCACTTTCTCTA	0.418000													9	43					0	0	0.006214	0	0
SPINK5	11005	broad.mit.edu	37	5	147486600	147486600	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:147486600G>A	ENST00000359874.3	+	17	1553	c.1479_splice	c.e17-1	p.E494_splice	SPINK5_ENST00000398454.1_Splice_Site_p.E494_splice|SPINK5_ENST00000256084.7_Splice_Site_p.E494_splice	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	494	Kazal-like 8.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTTCCCAGGAAATCTGCAG	0.393000													8	27					0	0	0.004482	0	0
FLG2	388698	broad.mit.edu	37	1	152328559	152328559	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152328559C>T	ENST00000388718.5	-	3	1775	c.1703G>A	c.(1702-1704)gGa>gAa	p.G568E	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	568	Ser-rich.						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)			CCCATGTTGTCCAAAGCCAGA	0.517000													95	167					0	0	0.014410	0	0
CCT5	22948	broad.mit.edu	37	5	10256136	10256136	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:10256136C>T	ENST00000280326.4	+	4	821	c.401C>T	c.(400-402)gCc>gTc	p.A134V	CCT5_ENST00000506600.1_Missense_Mutation_p.A41V|CCT5_ENST00000503026.1_Missense_Mutation_p.A113V|CCT5_ENST00000515390.1_Missense_Mutation_p.A79V|CCT5_ENST00000515676.1_Missense_Mutation_p.A96V	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	134					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						ATCAGAATAGCCGATGGCTAT	0.502000													9	14					0	0	0.010729	0	0
LRP1	4035	broad.mit.edu	37	12	57589508	57589508	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:57589508C>T	ENST00000243077.3	+	53	8971	c.8505C>T	c.(8503-8505)ttC>ttT	p.F2835F		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2835	LDL-receptor class A 18.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCAAGCACTTCGTGTGTGACC	0.622000													10	32					0	0	0.008291	0	0
TSEN34	79042	broad.mit.edu	37	19	54695980	54695980	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:54695980C>T	ENST00000396383.1	+	4	812	c.501C>T	c.(499-501)tcC>tcT	p.S167S	TSEN34_ENST00000302937.4_Silent_p.S167S|TSEN34_ENST00000429671.2_Silent_p.S167S|TSEN34_ENST00000396388.2_Silent_p.S167S			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	167					mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTCGTCTTCCCAAGCAGGAC	0.607000													12	54					0	0	0.001855	0	0
GFRA1	2674	broad.mit.edu	37	10	117884979	117884979	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:117884979T>C	ENST00000439649.3	-	5	875	c.508A>G	c.(508-510)Atc>Gtc	p.I170V	GFRA1_ENST00000369236.1_Missense_Mutation_p.I170V|GFRA1_ENST00000355422.6_Missense_Mutation_p.I175V|GFRA1_ENST00000544592.1_Missense_Mutation_p.I54V	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	175					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CACGGGGTGATGTACGCCGAC	0.582000													6	16					0	0	0.001168	0	0
MYH1	4619	broad.mit.edu	37	17	10412965	10412965	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:10412965C>T	ENST00000226207.5	-	15	1518	c.1424G>A	c.(1423-1425)aGc>aAc	p.S475N	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	475	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGCTCCAGGCTGTTGAACTA	0.398000													30	28					0	0	0.010818	0	0
APOBEC3F	200316	broad.mit.edu	37	22	39445537	39445537	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:39445537T>C	ENST00000308521.5	+	5	1031	c.674T>C	c.(673-675)gTa>gCa	p.V225A	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	227					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					ATGGAAGTTGTAAAGCACCAC	0.478000													46	56					0	0	0.014410	0	0
IGKV1D-43	28891	broad.mit.edu	37	2	90249257	90249257	+	RNA	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:90249257T>A	ENST00000468879.1	+	0	394																											TCTTCATCTATTATGCATCCA	0.502000													30	110					0	0	0.013726	0	0
MSR1	4481	broad.mit.edu	37	8	15978105	15978105	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:15978105C>T	ENST00000262101.5	-	9	1165	c.1044G>A	c.(1042-1044)acG>acA	p.T348T	MSR1_ENST00000445506.2_Silent_p.T366T|MSR1_ENST00000355282.2_Intron|MSR1_ENST00000350896.3_Intron			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	348					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GTCGAACTTTCGTAAATGGAG	0.433000													17	27					0	0	0.004990	0	0
KLHL41	10324	broad.mit.edu	37	2	170367288	170367288	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:170367288C>T	ENST00000284669.1	+	1	1077	c.1000C>T	c.(1000-1002)Ccc>Tcc	p.P334S	RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	NM_006063.2	NP_006054.2			kelch-like family member 41																		TGAGCAGATTCCCAGAAATCA	0.423000													9	65					0	0	0.008291	0	0
CATSPER4	378807	broad.mit.edu	37	1	26526468	26526468	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:26526468C>T	ENST00000456354.2	+	7	973	c.906C>T	c.(904-906)ttC>ttT	p.F302F		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	302					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		TCAACCTGTTCGTCATCGTGG	0.517000													12	20					0	0	0.010729	0	0
HERC2P2	400322	broad.mit.edu	37	15	23300012	23300012	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:23300012G>A	ENST00000560464.1	-	0	4275																											GCTGCACCACGATCGGCAGAG	0.602000													8	8					0	0	0.003080	0	0
WBSCR17	64409	broad.mit.edu	37	7	70853359	70853359	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:70853359C>T	ENST00000333538.5	+	3	1195	c.561C>T	c.(559-561)atC>atT	p.I187I	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	187	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGAAGGAAATCATTCTGGTGG	0.542000													4	25					0	0	0.009096	0	0
CSMD1	64478	broad.mit.edu	37	8	3081268	3081268	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:3081268G>A	ENST00000520002.1	-	29	5025	c.4470C>T	c.(4468-4470)atC>atT	p.I1490I	CSMD1_ENST00000602557.1_Silent_p.I1490I|CSMD1_ENST00000542608.1_Silent_p.I1489I|CSMD1_ENST00000400186.3_Silent_p.I1490I|CSMD1_ENST00000602723.1_Silent_p.I1490I|CSMD1_ENST00000539096.1_Silent_p.I1489I|CSMD1_ENST00000537824.1_Silent_p.I1489I|CSMD1_ENST00000523387.1_5'UTR			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1490	CUB 9.					integral to membrane		p.I1489I(1)|p.I1218I(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATATCAAGGCGATGACAAAGT	0.428000													14	55					0	0	0.004007	0	0
GPR179	440435	broad.mit.edu	37	17	36499484	36499484	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:36499484G>A	ENST00000342292.4	-	1	209	c.189C>T	c.(187-189)ctC>ctT	p.L63L		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	63						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTCCAGAGTAGAGATAAGCGA	0.632000													26	35					0	0	0.005443	0	0
ZAN	7455	broad.mit.edu	37	7	100382394	100382394	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100382394G>A	ENST00000542585.1	+	0	6917				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGTGCTGAGTGAAGACAAGTG	0.612000													6	16					0	0	0.001168	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171359	207171359	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:207171359C>T	ENST00000374423.3	+	5	2493	c.2107C>T	c.(2107-2109)Cgt>Tgt	p.R703C		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	703							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCAGTCTAGCCGTTCTTCTCT	0.408000													15	21					0	0	0.002450	0	0
HYDIN	54768	broad.mit.edu	37	16	71127722	71127722	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:71127722C>T	ENST00000393567.2	-	11	1594	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	HYDIN_ENST00000448089.2_Missense_Mutation_p.E482K|HYDIN_ENST00000448691.1_Missense_Mutation_p.E482K|HYDIN_ENST00000538248.1_Missense_Mutation_p.E509K|HYDIN_ENST00000541601.1_Missense_Mutation_p.E499K|HYDIN_ENST00000393550.2_Missense_Mutation_p.E482K|HYDIN_ENST00000288168.10_Missense_Mutation_p.E499K|HYDIN_ENST00000321489.5_Missense_Mutation_p.E482K	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	482										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GTGCTTACCTCATAACAATGT	0.388000													6	22					0	0	0.001984	0	0
SPRR2D	6703	broad.mit.edu	37	1	153012660	153012660	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:153012660G>A	ENST00000368757.1	-	2	443	c.163C>T	c.(163-165)Cct>Tct	p.P55S	SPRR2D_ENST00000368756.1_Missense_Mutation_p.P55S|SPRR2D_ENST00000360379.3_Missense_Mutation_p.P55S|SPRR2D_ENST00000368758.3_Missense_Mutation_p.P55S			P22532	SPR2D_HUMAN	small proline-rich protein 2D	55					keratinization	cornified envelope|cytoplasm		p.P55S(1)		endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCACAGGAGGATATTTCTGC	0.557000													65	198					0	0	0.014410	0	0
S100A8	6279	broad.mit.edu	37	1	153362599	153362599	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:153362599C>T	ENST00000368733.3	-	3	431	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	S100A8_ENST00000368732.1_Missense_Mutation_p.E88K	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	88				VAAHKKSHEESHKE -> WQPTKKAMKKATKSS (in Ref. 1; CAA68390).	chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGCTTTCTTCATGGCTTTTT	0.473000													25	110					0	0	0.003954	0	0
CACNA1S	779	broad.mit.edu	37	1	201046156	201046156	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:201046156G>A	ENST00000362061.3	-	12	1945	c.1719C>T	c.(1717-1719)ttC>ttT	p.F573F	CACNA1S_ENST00000367338.3_Silent_p.F573F	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	573					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)	CCAGGAGGGCGAAGATGACGA	0.567000													6	70					0	0	0.001168	0	0
OR10A6	390093	broad.mit.edu	37	11	7950088	7950088	+	Missense_Mutation	SNP	C	C	T	rs139869925		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:7950088C>T	ENST00000309838.2	-	1	121	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	41					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)		AATGGCATTTCCTATCAGGGT	0.468000													15	61					0	0	0.004007	0	0
SRGAP3	9901	broad.mit.edu	37	3	9034637	9034637	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:9034637G>A	ENST00000383836.3	-	20	2938	c.2511C>T	c.(2509-2511)tcC>tcT	p.S837S	SRGAP3_ENST00000360413.3_Silent_p.S813S	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	837					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GCTCCGTGGGGGACTGGAGGT	0.562000			T	RAF1	pilocytic astrocytoma								21	40					0	0	0.010504	0	0
C2CD2	25966	broad.mit.edu	37	21	43332482	43332482	+	Silent	SNP	C	C	T	rs148517689		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:43332482C>T	ENST00000380486.3	-	7	1153	c.912G>A	c.(910-912)acG>acA	p.T304T	C2CD2_ENST00000329623.7_Silent_p.T149T	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	304	C2.					cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GAGTGTTTTTCGTCAGGGTGC	0.542000													10	6					0	0	0.001855	0	0
CNTN5	53942	broad.mit.edu	37	11	100221454	100221454	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:100221454C>T	ENST00000524871.1	+	24	3342	c.3052C>T	c.(3052-3054)Cac>Tac	p.H1018Y	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.H944Y|CNTN5_ENST00000528682.1_Missense_Mutation_p.H1018Y|CNTN5_ENST00000279463.3_Missense_Mutation_p.H1018Y	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	1018	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GCAAGAGGGTCACAGCAACAG	0.383000													6	29					0	0	0.001168	0	0
OR10G8	219869	broad.mit.edu	37	11	123900509	123900509	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:123900509C>T	ENST00000431524.1	+	1	213	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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)		TGTACTACTTCCTCACCAACC	0.532000													9	62					0	0	0.006214	0	0
UBE2C	11065	broad.mit.edu	37	20	44443052	44443052	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:44443052C>T	ENST00000405520.1	+	2	879	c.42C>T	c.(40-42)ttC>ttT	p.F14F	UBE2C_ENST00000496085.1_3'UTR|UBE2C_ENST00000372568.4_Silent_p.F14F|UBE2C_ENST00000335046.3_Silent_p.F53F|UBE2C_ENST00000243893.6_Intron|UBE2C_ENST00000356455.4_Silent_p.F53F|UBE2C_ENST00000352551.5_Intron	NM_181802.1	NP_861518.1	O00762	UBE2C_HUMAN	ubiquitin-conjugating enzyme E2C	53					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization	anaphase-promoting complex|cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(2)|lung(2)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				TTTCTGCCTTCCCTGAATCAG	0.493000													6	50					0	0	0.001984	0	0
PCLO	27445	broad.mit.edu	37	7	82475901	82475901	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82475901G>A	ENST00000423517.2	-	12	14150	c.13813C>T	c.(13813-13815)Cat>Tat	p.H4605Y	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Missense_Mutation_p.H4605Y	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4493	C2 1.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTGGCTCATGAAGTTCCAGA	0.333000													9	32					0	0	0.004482	0	0
KIAA1958	158405	broad.mit.edu	37	9	115421617	115421617	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:115421617C>T	ENST00000337530.6	+	4	1715	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F	KIAA1958_ENST00000536272.1_Silent_p.F501F	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	473										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GCTCGGACTTCCTGGCCACCT	0.547000													18	26					0	0	0.004990	0	0
USH2A	7399	broad.mit.edu	37	1	216498891	216498891	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:216498891G>A	ENST00000366943.2	-	6	1285	c.899C>T	c.(898-900)tCa>tTa	p.S300L	USH2A_ENST00000307340.3_Missense_Mutation_p.S300L|USH2A_ENST00000366942.3_Missense_Mutation_p.S300L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	300	Laminin N-terminal.				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)		ACGGCAATGTGATTGGGCATG	0.502000										HNSCC(13;0.011)			6	32					0	0	0.001984	0	0
SCN5A	6331	broad.mit.edu	37	3	38647622	38647622	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:38647622C>T	ENST00000413689.1	-	10	1351	c.1158G>A	c.(1156-1158)ggG>ggA	p.G386G	SCN5A_ENST00000449557.2_Silent_p.G386G|SCN5A_ENST00000451551.2_Silent_p.G386G|SCN5A_ENST00000425664.1_Silent_p.G386G|SCN5A_ENST00000423572.2_Silent_p.G386G|SCN5A_ENST00000450102.2_Silent_p.G386G|SCN5A_ENST00000455624.2_Silent_p.G386G|SCN5A_ENST00000414099.2_Silent_p.G386G|SCN5A_ENST00000333535.4_Silent_p.G386G|SCN5A_ENST00000443581.1_Silent_p.G386G	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	386					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGTAGATCTTCCCTGCGGACC	0.557000													17	29					0	0	0.010504	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891813	2891813	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:2891813G>A	ENST00000254528.3	+	4	1847	c.1688G>A	c.(1687-1689)gGg>gAg	p.G563E		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	563					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AAGCCTCATGGGATGGAAGGT	0.488000													11	47					0	0	0.010729	0	0
MYO3A	53904	broad.mit.edu	37	10	26465757	26465757	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:26465757C>T	ENST00000265944.5	+	31	4587	c.4421C>T	c.(4420-4422)tCt>tTt	p.S1474F	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1474					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CGAGTTTCTTCTCAGCAGTGC	0.373000													8	30					0	0	0.008291	0	0
LRG1	116844	broad.mit.edu	37	19	4538810	4538810	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:4538810G>A	ENST00000306390.6	-	2	646	c.186C>T	c.(184-186)atC>atT	p.I62I	LRG1_ENST00000586883.1_5'UTR|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	62						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTAGCCGGGGATTTCGGCAG	0.637000													16	56					0	0	0.007413	0	0
PARM1	25849	broad.mit.edu	37	4	75938106	75938106	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:75938106C>T	ENST00000307428.7	+	2	727	c.515C>T	c.(514-516)tCc>tTc	p.S172F	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	172					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						TTTTCTGCCTCCGTTACTACC	0.582000													49	81					0	0	0.014410	0	0
LRRC31	79782	broad.mit.edu	37	3	169557796	169557796	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:169557796G>A	ENST00000316428.5	-	9	1690	c.1633C>T	c.(1633-1635)Cac>Tac	p.H545Y	LRRC31_ENST00000523069.1_3'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.H489Y	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	545										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TGGTCAAAGTGAATGCTTCTT	0.403000													13	32					0	0	0.002450	0	0
MROH9	80133	broad.mit.edu	37	1	170967413	170967413	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:170967413G>A	ENST00000367759.4	+	15	1748	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	MROH9_ENST00000367758.3_Missense_Mutation_p.E532K	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		ATTCCTCACTGAAGTGAGTTT	0.398000													26	49					0	0	0.006320	0	0
OR51F1	256892	broad.mit.edu	37	11	4790428	4790428	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:4790428G>A	ENST00000380383.1	-	1	740	c.741C>T	c.(739-741)ttC>ttT	p.F247F	OR51F1_ENST00000343430.3_Silent_p.F240F|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	240						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CACAGGTGCTGAAGACCTTGT	0.488000													21	36					0	0	0.012319	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883574	228883574	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:228883574C>T	ENST00000392056.3	-	7	2042	c.1996G>A	c.(1996-1998)Gaa>Aaa	p.E666K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E666K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	666						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGTGCCAGTTCATTCCTGACG	0.443000													40	64					0	0	0.008740	0	0
FAM129A	116496	broad.mit.edu	37	1	184764422	184764422	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:184764422C>T	ENST00000367511.3	-	14	2669	c.2476G>A	c.(2476-2478)Gaa>Aaa	p.E826K	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	826	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CCTCTTCCTTCATGGGCAGTG	0.647000													15	39					0	0	0.003163	0	0
MROH2B	133558	broad.mit.edu	37	5	41065475	41065475	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:41065475C>T	ENST00000399564.4	-	4	769	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		ACAACGAATTCATCTGGTAGC	0.418000													6	16					0	0	0.001168	0	0
ROBO2	6092	broad.mit.edu	37	3	77638049	77638049	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:77638049G>A	ENST00000461745.1	+	17	3548	c.2648G>A	c.(2647-2649)cGa>cAa	p.R883Q	ROBO2_ENST00000487694.3_Missense_Mutation_p.R899Q|ROBO2_ENST00000332191.8_Missense_Mutation_p.R883Q	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	883					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TTGTATTGGCGAAGAAAGAAG	0.418000													26	50					0	0	0.009535	0	0
OR10X1	128367	broad.mit.edu	37	1	158549442	158549442	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158549442G>A	ENST00000368150.1	-	1	247	c.248C>T	c.(247-249)tCc>tTc	p.S83F		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CTCAGAGAAGGAGAGTGCACT	0.502000													20	53					0	0	0.003954	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414692	105414692	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:105414692G>A	ENST00000333244.5	-	7	7215	c.7096C>T	c.(7096-7098)Ctc>Ttc	p.L2366F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2366						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGAACGCTGAGGTCAGTGGTC	0.652000													31	116					0	0	0.010818	0	0
C16orf78	123970	broad.mit.edu	37	16	49430414	49430414	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:49430414C>T	ENST00000299191.3	+	4	592	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	159										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						TGTCTTAGATCCCATGTTACA	0.493000													22	42					0	0	0.012319	0	0
AKR1B1	231	broad.mit.edu	37	7	134134532	134134532	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:134134532G>A	ENST00000285930.4	-	4	448	c.369C>T	c.(367-369)ttC>ttT	p.F123F	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	123					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	CATCCAATGGGAAAAATTCCT	0.468000													53	79					0	0	0.014410	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166600	180166600	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:180166600G>A	ENST00000307832.2	-	1	499	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGAGTTCACGAAACCCGCAC	0.552000													4	14					0	0	0.009096	0	0
ACOT12	134526	broad.mit.edu	37	5	80643737	80643737	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:80643737T>A	ENST00000307624.3	-	6	537	c.509A>T	c.(508-510)gAt>gTt	p.D170V		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	170	Acyl coenzyme A hydrolase 2.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TTCCTCTTCATCAAAAATGAG	0.498000													35	103					0	0	0.003271	0	0
NAV3	89795	broad.mit.edu	37	12	78511887	78511887	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:78511887T>A	ENST00000397909.2	+	14	3023	c.2850T>A	c.(2848-2850)gaT>gaA	p.D950E	NAV3_ENST00000228327.6_Missense_Mutation_p.D950E|NAV3_ENST00000266692.7_Missense_Mutation_p.D950E|NAV3_ENST00000536525.2_Missense_Mutation_p.D950E			Q8IVL0	NAV3_HUMAN	neuron navigator 3	950						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGAAGAAGATTTTGACAGCC	0.488000										HNSCC(70;0.22)			65	46					0	0	0.014410	0	0
MYO18B	84700	broad.mit.edu	37	22	26194048	26194048	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:26194048G>A	ENST00000335473.7	+	12	2755	c.2505G>A	c.(2503-2505)gcG>gcA	p.A835A	MYO18B_ENST00000536101.1_Silent_p.A835A|MYO18B_ENST00000407587.2_Silent_p.A835A	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	835	Myosin head-like.		A -> G (in a lung squamous cell carcinoma sample; somatic mutation).			nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACCTGGGTGCGGCGGGGGCCT	0.662000													11	12					0	0	0.010729	0	0
SLC35F3	148641	broad.mit.edu	37	1	234445036	234445036	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:234445036C>T	ENST00000366618.3	+	4	943	c.798C>T	c.(796-798)atC>atT	p.I266I	SLC35F3_ENST00000366617.3_Silent_p.I197I	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	197					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TCTCATGGATCGTTCTCAGGG	0.443000													16	37					0	0	0.006122	0	0
POMT1	10585	broad.mit.edu	37	9	134385753	134385753	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:134385753C>T	ENST00000423007.1	+	9	1248	c.806C>T	c.(805-807)tCt>tTt	p.S269F	POMT1_ENST00000354713.4_Missense_Mutation_p.S239F|POMT1_ENST00000419118.2_Missense_Mutation_p.S117F|POMT1_ENST00000341012.7_Missense_Mutation_p.S215F|POMT1_ENST00000404875.2_Missense_Mutation_p.S152F|POMT1_ENST00000541219.1_Missense_Mutation_p.S47F|POMT1_ENST00000372228.3_Missense_Mutation_p.S291F|POMT1_ENST00000402686.3_Missense_Mutation_p.S269F	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	291					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		GTCTTCCGCTCTGGGCCCCAC	0.542000													18	31					0	0	0.014323	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120921	38120921	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:38120921C>T	ENST00000406386.3	+	7	2613	c.2358C>T	c.(2356-2358)gcC>gcT	p.A786A	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	786					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCAATAGAGCCACACGAGACA	0.547000													18	31					0	0	0.010504	0	0
TMEM63C	57156	broad.mit.edu	37	14	77705801	77705801	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:77705801G>A	ENST00000298351.4	+	11	916	c.772G>A	c.(772-774)Gac>Aac	p.D258N		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	258						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CTTCTGCTACGACGTCAGGAA	0.622000													26	39					0	0	0.007291	0	0
PPEF2	5470	broad.mit.edu	37	4	76804350	76804350	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:76804350C>T	ENST00000286719.7	-	9	1108	c.752G>A	c.(751-753)gGc>gAc	p.G251D		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	251	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTTGGTGAAGCCATATCTAGA	0.328000													12	33					0	0	0.013537	0	0
CDH11	1009	broad.mit.edu	37	16	64981514	64981514	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:64981514C>T	ENST00000268603.4	-	13	2998	c.2383G>A	c.(2383-2385)Gat>Aat	p.D795N	CDH11_ENST00000566827.1_Missense_Mutation_p.D669N|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	795					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.D795Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGTTAAGAATCGTCATCAAAA	0.363000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			13	51					0	0	0.001855	0	0
KDM7A	80853	broad.mit.edu	37	7	139791650	139791650	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:139791650C>T	ENST00000397560.2	-	19	2782	c.2685G>A	c.(2683-2685)aaG>aaA	p.K895K		NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		895					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ATGCCGGTCTCTTGGTGGGGT	0.483000													11	122					0	0	0.004007	0	0
CRB1	23418	broad.mit.edu	37	1	197404044	197404044	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:197404044C>T	ENST00000367397.1	+	5	2052	c.1194C>T	c.(1192-1194)agC>agT	p.S398S	CRB1_ENST00000535699.1_Silent_p.S993S|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367400.3_Silent_p.S1017S|CRB1_ENST00000544212.1_Silent_p.S498S|CRB1_ENST00000367399.2_Silent_p.S905S			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1017	EGF-like 10; calcium-binding (Potential).				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						GTGGCAACAGCTTTTATATGC	0.398000													24	44					0	0	0.003330	0	0
PENK	5179	broad.mit.edu	37	8	57353905	57353905	+	Missense_Mutation	SNP	C	C	T	rs149967411		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:57353905C>T	ENST00000314922.3	-	2	806	c.730G>A	c.(730-732)Gac>Aac	p.D244N	PENK_ENST00000451791.2_Missense_Mutation_p.D244N	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	244					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CCTTCTTCGTCGGAGGGCAGA	0.493000													12	82					0	0	0.010729	0	0
ACSL5	51703	broad.mit.edu	37	10	114177616	114177616	+	Missense_Mutation	SNP	G	G	A	rs34585626	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:114177616G>A	ENST00000393081.1	+	14	1538	c.1231G>A	c.(1231-1233)Gga>Aga	p.G411R	RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000433418.1_Missense_Mutation_p.G411R|ACSL5_ENST00000354655.4_Missense_Mutation_p.G411R|ACSL5_ENST00000356116.1_Missense_Mutation_p.G467R|ACSL5_ENST00000369410.3_Missense_Mutation_p.G193R|ACSL5_ENST00000354273.4_Missense_Mutation_p.G411R	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	411					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CAGCCTGGGCGGAAGGGTTCG	0.493000													15	75					0	0	0.006122	0	0
ANK3	288	broad.mit.edu	37	10	61831953	61831953	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:61831953C>T	ENST00000280772.1	-	37	8877	c.8686G>A	c.(8686-8688)Gaa>Aaa	p.E2896K	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2896					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GACATAAATTCATTCTTTTGA	0.353000													9	36					0	0	0.004482	0	0
ORAI2	80228	broad.mit.edu	37	7	102087224	102087224	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:102087224G>A	ENST00000356387.2	+	4	725	c.490G>A	c.(490-492)Gag>Aag	p.E164K	ORAI2_ENST00000478730.1_Missense_Mutation_p.E164K|ORAI2_ENST00000403646.3_Missense_Mutation_p.E164K|ORAI2_ENST00000473939.1_Missense_Mutation_p.E164K|ORAI2_ENST00000488996.1_3'UTR	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	164						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						CTTCCTGGCCGAGGTGGTGCT	0.677000													24	106					0	0	0.003330	0	0
LOC154761	154761	broad.mit.edu	37	7	143510010	143510010	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:143510010C>T	ENST00000494978.1	-	0	1568					NR_015421.1																						CACAAAGCATCACAAAGACTC	0.478000													4	11					0	0	0.009096	0	0
ZNF883	169834	broad.mit.edu	37	9	115760556	115760556	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:115760556C>T	ENST00000427548.1	-	0	1257							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TGAACTATGGCTTTACATTTA	0.348000													7	67					0	0	0.001984	0	0
GLB1L2	89944	broad.mit.edu	37	11	134240216	134240216	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:134240216C>T	ENST00000535456.2	+	12	1326	c.1138C>T	c.(1138-1140)Ctt>Ttt	p.L380F	GLB1L2_ENST00000389881.3_Missense_Mutation_p.L380F|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.L380F	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	380					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		ACCTGACCTTCTTCCCAAGAT	0.607000													5	85					0	0	0.004482	0	0
SLC22A6	9356	broad.mit.edu	37	11	62752125	62752125	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:62752125A>C	ENST00000377871.3	-	1	304	c.38T>G	c.(37-39)gTc>gGc	p.V13G	SLC22A6_ENST00000360421.4_Missense_Mutation_p.V13G|SLC22A6_ENST00000458333.2_Missense_Mutation_p.V13G|SLC22A6_ENST00000421062.2_Missense_Mutation_p.V13G	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	13					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GAAGCGGCCGACACCCCCCAC	0.637000													7	16					0	0	0.006214	0	0
ZNF417	147687	broad.mit.edu	37	19	58421035	58421035	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:58421035G>A	ENST00000312026.5	-	3	775	c.611C>T	c.(610-612)cCc>cTc	p.P204L	ZNF417_ENST00000536263.1_Missense_Mutation_p.P5L|ZNF417_ENST00000595559.1_Missense_Mutation_p.P203L|CTD-2583A14.9_ENST00000602124.1_Intron	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		CTCCTGAAAGGGTGGGCCATG	0.468000													26	62					0	0	0.014410	0	0
PDE4B	5142	broad.mit.edu	37	1	66384349	66384349	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:66384349G>A	ENST00000329654.4	+	3	299	c.112G>A	c.(112-114)Gac>Aac	p.D38N	PDE4B_ENST00000371049.3_Missense_Mutation_p.D38N	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	38					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	ACTTGGGATCGACCTCTGGAG	0.433000													20	43					0	0	0.012319	0	0
RGS7BP	401190	broad.mit.edu	37	5	63890621	63890621	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:63890621C>T	ENST00000334025.2	+	4	874	c.548C>T	c.(547-549)tCa>tTa	p.S183L		NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	183					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		GACTCCTCATCATCCCCCGTA	0.498000													13	40					0	0	0.001855	0	0
ANK1	286	broad.mit.edu	37	8	41581147	41581147	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:41581147C>T	ENST00000396942.1	-	8	799	c.716G>A	c.(715-717)gGc>gAc	p.G239D	ANK1_ENST00000352337.4_Missense_Mutation_p.G239D|ANK1_ENST00000379758.2_Missense_Mutation_p.G239D|ANK1_ENST00000347528.4_Missense_Mutation_p.G239D|ANK1_ENST00000289734.7_Missense_Mutation_p.G239D|ANK1_ENST00000265709.8_Missense_Mutation_p.G272D|ANK1_ENST00000396945.1_Missense_Mutation_p.G239D			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	239	89 kDa 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)			TGGCGTGATGCCGTTCTGAAG	0.642000													7	40					0	0	0.001984	0	0
OR51V1	283111	broad.mit.edu	37	11	5221098	5221098	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5221098G>A	ENST00000321255.1	-	1	832	c.833C>T	c.(832-834)tCc>tTc	p.S278F		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCACGGGGGAAAGGTGCTT	0.463000													9	31					0	0	0.008291	0	0
LARGE	9215	broad.mit.edu	37	22	33673202	33673202	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:33673202G>A	ENST00000354992.2	-	15	2488	c.1917C>T	c.(1915-1917)ttC>ttT	p.F639F	LARGE_ENST00000402320.1_Silent_p.F587F|LARGE_ENST00000437602.2_Silent_p.F590F|LARGE_ENST00000452586.2_Silent_p.F438F|LARGE_ENST00000397394.2_Silent_p.F639F|LARGE_ENST00000337431.2_Silent_p.F587F	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	639					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	p.F639F(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GCCACTTGGCGAAGTTTGTGG	0.582000													5	19					0	0	0.001168	0	0
ACTC1	70	broad.mit.edu	37	15	35083473	35083473	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:35083473C>T	ENST00000290378.4	-	6	1487	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'UTR	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	278					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TAAGTTGTTTCATGGATGCCA	0.463000													17	76					0	0	0.010504	0	0
SYT13	57586	broad.mit.edu	37	11	45274136	45274136	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:45274136G>A	ENST00000020926.3	-	4	793	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	228	C2 1.					transport vesicle		p.P228T(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						TCCGCCAGGGGGAGCACCAGG	0.682000											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	68					0	0	0.013537	0	0
TICAM1	148022	broad.mit.edu	37	19	4817408	4817408	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:4817408C>A	ENST00000248244.5	-	2	1211	c.982G>T	c.(982-984)Gtc>Ttc	p.V328F		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	328	Pro-rich.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TGGTCTTTGACAGAGCAGGGG	0.572000													6	68					5.18039e-06	5.62651e-06	0.003080	1	0
ADAMDEC1	27299	broad.mit.edu	37	8	24253266	24253266	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:24253266G>A	ENST00000538205.1	+	6	707	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.E133K|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.E54K|RP11-624C23.1_ENST00000519689.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	133					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.E133K(1)		NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CATCCTAAATGAAAAGAATTC	0.363000													8	30					0	0	0.006214	0	0
FAM135B	51059	broad.mit.edu	37	8	139151271	139151271	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:139151271C>T	ENST00000395297.1	-	18	4029	c.3859G>A	c.(3859-3861)Gat>Aat	p.D1287N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1287										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTGCGCAAATCAGCATTATCC	0.428000										HNSCC(54;0.14)			23	51					0	0	0.002780	0	0
ISL1	3670	broad.mit.edu	37	5	50687127	50687127	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:50687127G>A	ENST00000230658.7	+	5	1370	c.785G>A	c.(784-786)gGa>gAa	p.G262E	ISL1_ENST00000511384.1_Intron|ISL1_ENST00000505475.2_3'UTR	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	262	Gln-rich.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GGGATGACAGGAACTCCCATG	0.517000													8	15					0	0	0.003080	0	0
ACSL5	51703	broad.mit.edu	37	10	114172982	114172982	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:114172982C>T	ENST00000393081.1	+	12	1307	c.1000C>T	c.(1000-1002)Cgg>Tgg	p.R334W	RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000433418.1_Missense_Mutation_p.R334W|ACSL5_ENST00000354655.4_Missense_Mutation_p.R334W|ACSL5_ENST00000356116.1_Missense_Mutation_p.R390W|ACSL5_ENST00000369410.3_Missense_Mutation_p.R116W|ACSL5_ENST00000354273.4_Missense_Mutation_p.R334W	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	334					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		AGGGGATATTCGGTTGCTGGC	0.468000													14	69					0	0	0.003163	0	0
OR8I2	120586	broad.mit.edu	37	11	55861551	55861551	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:55861551C>T	ENST00000302124.2	+	1	799	c.768C>T	c.(766-768)ttC>ttT	p.F256F	OR8I2_ENST00000560768.1_3'UTR			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CTCTGATTTTCACCTATTTGC	0.498000													22	73					0	0	0.002780	0	0
KCNQ4	9132	broad.mit.edu	37	1	41283836	41283836	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:41283836G>A	ENST00000347132.5	+	3	488	c.405_splice	c.e3-1	p.E136_splice	KCNQ4_ENST00000509682.2_Splice_Site_p.E136_splice	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	136					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			GGTCCCACAGGAATTCGTGAT	0.632000													17	77					0	0	0.004990	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795419	142795419	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:142795419C>T	ENST00000370498.1	-	2	1012	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	87										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCTAGGCCTTCGTCCTCCTCC	0.488000													121	79					0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9083076	9083076	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9083076G>A	ENST00000397910.4	-	1	8942	c.8739C>T	c.(8737-8739)tcC>tcT	p.S2913S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2914	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						TGGTGTTCAGGGACTGTCCAG	0.488000													7	48					0	0	0.003080	0	0
COL6A5	256076	broad.mit.edu	37	3	130159251	130159251	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:130159251G>A	ENST00000265379.6	+	35	6563	c.6069G>A	c.(6067-6069)atG>atA	p.M2023I	COL6A5_ENST00000432398.2_Missense_Mutation_p.M2023I			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2023	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GGAGAAAGATGGGTACAGTAA	0.398000													10	38					0	0	0.006214	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155920976	155920976	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:155920976G>A	ENST00000368316.1	-	24	2733	c.2263C>T	c.(2263-2265)Cgg>Tgg	p.R755W	ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R755W|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R782W|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R784W|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R783W			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	783					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCCCCATCCCGAGAGTTGGCT	0.657000													5	25					0	0	0.000602	0	0
PLCG2	5336	broad.mit.edu	37	16	81888096	81888096	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:81888096G>A	ENST00000359376.3	+	3	455	c.241G>A	c.(241-243)Gat>Aat	p.D81N	PLCG2_ENST00000565400.1_3'UTR	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	81	PH.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GAACTCCAAAGATTTCGAGCG	0.468000													24	62					0	0	0.003954	0	0
DHX16	8449	broad.mit.edu	37	6	30632922	30632922	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:30632922G>A	ENST00000376442.3	-	6	1246	c.1051C>T	c.(1051-1053)Ccc>Tcc	p.P351S		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	351					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						TGATACTTGGGCTCCTGAGAG	0.632000													4	20					0	0	0.000602	0	0
ALDH1B1	219	broad.mit.edu	37	9	38395964	38395964	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:38395964G>A	ENST00000377698.3	+	2	372	c.219G>A	c.(217-219)cgG>cgA	p.R73R		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	73					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	AAGGTGACCGGGCTGATGTGG	0.632000													25	50					0	0	0.003330	0	0
IGHV3-73	28409	broad.mit.edu	37	14	107211187	107211187	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:107211187C>T	ENST00000390636.2	-	0	181																											TCAGGGACCCCCCAGGCTGGA	0.622000													17	31					0	0	0.007413	0	0
GRAMD4	23151	broad.mit.edu	37	22	47071398	47071398	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:47071398C>T	ENST00000406902.1	+	17	1725	c.1512C>T	c.(1510-1512)tcC>tcT	p.S504S	GRAMD4_ENST00000361034.3_Silent_p.S504S|GRAMD4_ENST00000408031.1_Silent_p.S27S			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	504	GRAM.				apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		AATCTGGGTCCTCAAAGAGGA	0.562000													14	64					0	0	0.002450	0	0
SYN2	6854	broad.mit.edu	37	3	12208783	12208783	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:12208783C>T	ENST00000432424.2	+	0	1202							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						CTCTGCGATGCTGGAGCAGAT	0.522000													55	158					0	0	0.014410	0	0
DGKK	139189	broad.mit.edu	37	X	50119069	50119069	+	RNA	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:50119069T>C	ENST00000376025.2	-	0	3426							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GCCACTGTCTTGGCCGTAAAA	0.443000													11	11					0	0	0.010729	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76523672	76523672	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:76523672G>A	ENST00000307431.8	+	14	2354	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.E661K|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.E609K|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.E585K	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	658	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGGGTTTTTCGAGTATGTGGC	0.458000													3	9					0	0	0.004672	0	0
SIX2	10736	broad.mit.edu	37	2	45235713	45235713	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:45235713G>A	ENST00000303077.6	-	1	856	c.537C>T	c.(535-537)gaC>gaT	p.D179D		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	179						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CGGCCGCCCGGTCGCGCTGCC	0.682000													27	56					0	0	0.009535	0	0
PRKCQ	5588	broad.mit.edu	37	10	6540414	6540414	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:6540414G>A	ENST00000263125.5	-	5	585	c.486C>T	c.(484-486)ttC>ttT	p.F162F	PRKCQ_ENST00000539722.1_Silent_p.F37F|PRKCQ_ENST00000397176.2_Silent_p.F162F	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	162					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						AGGTGGCAGTGAACTCGTGGC	0.522000													14	58					0	0	0.004990	0	0
HECTD1	25831	broad.mit.edu	37	14	31642629	31642629	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:31642629G>A	ENST00000399332.1	-	6	1377	c.889C>T	c.(889-891)Ctt>Ttt	p.L297F	HECTD1_ENST00000553700.1_Missense_Mutation_p.L297F	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	297					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GACCTCAGAAGATCCTAGAAA	0.353000													15	21					0	0	0.002450	0	0
MUC16	94025	broad.mit.edu	37	19	9080501	9080501	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9080501C>T	ENST00000397910.4	-	2	9733	c.9530G>A	c.(9529-9531)gGa>gAa	p.G3177E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3178	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A3175fs*111(1)		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						CGTGGAATTTCCTTGTGCTGC	0.498000													12	109					0	0	0.002450	0	0
HEPN1	641654	broad.mit.edu	37	11	124789832	124789832	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:124789832C>T	ENST00000408930.5	+	1	687	c.186C>T	c.(184-186)tcC>tcT	p.S62S	HEPACAM_ENST00000298251.4_3'UTR	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1	62						cytoplasm				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		ACTGCCACTCCTATGAACTGT	0.488000													6	33					0	0	0.001984	0	0
OR5B2	390190	broad.mit.edu	37	11	58190485	58190485	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:58190485G>A	ENST00000302581.2	-	1	301	c.250C>T	c.(250-252)Ctt>Ttt	p.L84F		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCTCCTCTAAGGAACCCAGCC	0.493000													33	60					0	0	0.004289	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871280	51871280	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:51871280A>C	ENST00000371497.5	+	2	2170	c.1283A>C	c.(1282-1284)aAa>aCa	p.K428T	TSHZ2_ENST00000329613.6_Missense_Mutation_p.K425T|TSHZ2_ENST00000603338.2_Missense_Mutation_p.K425T	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	428					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GCAGTGGAGAAAATGCAGTCG	0.502000													35	83					0	0	0.005524	0	0
ZYG11B	79699	broad.mit.edu	37	1	53282222	53282222	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:53282222C>T	ENST00000294353.6	+	13	2110	c.1965C>T	c.(1963-1965)ttC>ttT	p.F655F	ZYG11B_ENST00000443756.2_Silent_p.F585F|ZYG11B_ENST00000545132.1_3'UTR	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	655							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						ATCCATTTTTCCCATTACTTG	0.373000													42	95					0	0	0.014410	0	0
SLC6A5	9152	broad.mit.edu	37	11	20636293	20636293	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:20636293C>T	ENST00000525748.1	+	6	1327	c.1054C>T	c.(1054-1056)Ccc>Tcc	p.P352S		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	352					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GACCGCTTATCCCAACGTGAC	0.398000													37	77					0	0	0.006230	0	0
APOB	338	broad.mit.edu	37	2	21233505	21233505	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:21233505C>T	ENST00000233242.1	-	26	6362	c.6235G>A	c.(6235-6237)Gaa>Aaa	p.E2079K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2079	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCAAAATATTCTTGCAAGGTC	0.343000													106	342					0	0	0.014410	0	0
TLE2	7089	broad.mit.edu	37	19	3009669	3009669	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:3009669G>A	ENST00000262953.6	-	13	1306	c.1044C>T	c.(1042-1044)ccC>ccT	p.P348P	TLE2_ENST00000447365.2_Intron|TLE2_ENST00000591529.1_Silent_p.P362P|TLE2_ENST00000590536.1_Silent_p.P349P|TLE2_ENST00000426948.2_Silent_p.P362P|TLE2_ENST00000443826.3_Silent_p.P226P|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000455444.2_Silent_p.P226P	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	348	Pro/Ser-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		ACGTGGTGAAGGGACTGGACA	0.647000													5	16					0	0	0.001168	0	0
TBX15	6913	broad.mit.edu	37	1	119427478	119427478	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:119427478C>T	ENST00000369429.3	-	8	1695	c.1686G>A	c.(1684-1686)atG>atA	p.M562I	TBX15_ENST00000207157.3_Missense_Mutation_p.M456I			Q96SF7	TBX15_HUMAN	T-box 15	562						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TGCTGTGCTCCATCCCTGACG	0.557000													12	57					0	0	0.013537	0	0
HORMAD1	84072	broad.mit.edu	37	1	150672652	150672652	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:150672652C>T	ENST00000368993.2	-	14	1145	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E	HORMAD1_ENST00000361824.2_Missense_Mutation_p.G347E|HORMAD1_ENST00000322343.7_Missense_Mutation_p.G340E|HORMAD1_ENST00000368995.4_Missense_Mutation_p.G267E			Q86X24	HORM1_HUMAN	HORMA domain containing 1	347					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TGGTTGATTTCCATTTGCCTC	0.308000													8	24					0	0	0.006214	0	0
LRP5	4041	broad.mit.edu	37	11	68125224	68125224	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:68125224G>A	ENST00000294304.7	+	3	701	c.595G>A	c.(595-597)Gga>Aga	p.G199R		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	199	Beta-propeller 1.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGGCCCAATGGACTGACCAT	0.602000													17	21					0	0	0.004007	0	0
USP39	10713	broad.mit.edu	37	2	85872198	85872198	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:85872198C>T	ENST00000323701.6	+	11	1565	c.1555C>T	c.(1555-1557)Ctt>Ttt	p.L519F	USP39_ENST00000409025.1_Missense_Mutation_p.L519F|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Missense_Mutation_p.L416F|USP39_ENST00000409766.3_Intron|USP39_ENST00000409470.1_Missense_Mutation_p.L519F	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	519					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						GATCCACGTGCTTCATCATGT	0.527000													10	30					0	0	0.013537	0	0
C15orf48	84419	broad.mit.edu	37	15	45723275	45723275	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:45723275C>T	ENST00000344300.3	+	2	303	c.113C>T	c.(112-114)aCc>aTc	p.T38I	RP11-519G16.5_ENST00000559553.1_RNA|C15orf48_ENST00000396650.2_Missense_Mutation_p.T38I	NM_032413.3	NP_115789.1	Q9C002	NMES1_HUMAN	chromosome 15 open reading frame 48	38						nucleus				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		CTTTGGAAAACCGATGTGATG	0.403000													33	80					0	0	0.013726	0	0
CDH10	1008	broad.mit.edu	37	5	24505229	24505229	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:24505229G>A	ENST00000264463.4	-	8	1892	c.1385C>T	c.(1384-1386)gCt>gTt	p.A462V		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	462	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ACTGATTTCAGCAGCAATAAC	0.274000										HNSCC(23;0.051)			11	17					0	0	0.002450	0	0
COL5A2	1290	broad.mit.edu	37	2	189936776	189936776	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:189936776G>A	ENST00000374866.3	-	18	1422	c.1148C>T	c.(1147-1149)cCt>cTt	p.P383L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	383					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CTTCATTCCAGGATTTCCTGG	0.333000													10	12					0	0	0.013537	0	0
MAP1A	4130	broad.mit.edu	37	15	43817595	43817595	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:43817595G>A	ENST00000382031.1	+	5	4669	c.4638G>A	c.(4636-4638)gcG>gcA	p.A1546A	MAP1A_ENST00000399453.1_Silent_p.A1308A|MAP1A_ENST00000300231.5_Silent_p.A1308A			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1308						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TACCTGGGGCGATCACAAGCC	0.507000													23	48					0	0	0.003954	0	0
PELI2	57161	broad.mit.edu	37	14	56763339	56763339	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:56763339C>T	ENST00000267460.4	+	6	1004	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	240					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						GACCAACGTCCTGCAGGACGG	0.473000													24	27					0	0	0.003954	0	0
OR8B2	26595	broad.mit.edu	37	11	124252580	124252580	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:124252580G>A	ENST00000375013.2	-	1	678	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TAGTGACAATGAAAACATAAG	0.413000													7	81					0	0	0.006214	0	0
OR3A4P	390756	broad.mit.edu	37	17	3214098	3214098	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:3214098C>T	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							CAAACTGTTGCCCTGTCTCCT	0.532000													65	77					0	0	0.014410	0	0
KCTD16	57528	broad.mit.edu	37	5	143586772	143586772	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:143586772C>T	ENST00000507359.2	+	2	1586	c.495C>T	c.(493-495)ttC>ttT	p.F165F	KCTD16_ENST00000512467.1_Silent_p.F165F	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	165						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			AGTGGGGTTTCATTACTGTGG	0.537000													9	25					0	0	0.008291	0	0
COL7A1	1294	broad.mit.edu	37	3	48623516	48623516	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:48623516G>A	ENST00000328333.8	-	27	3821	c.3714C>T	c.(3712-3714)ttC>ttT	p.F1238F	COL7A1_ENST00000454817.1_Silent_p.F1238F	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1238	Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTGAGTAGTGAAGGATGCCT	0.557000													53	77					0	0	0.014410	0	0
PAGE4	9506	broad.mit.edu	37	X	49598451	49598451	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:49598451G>A	ENST00000218068.6	+	5	374	c.295G>A	c.(295-297)Gat>Aat	p.D99N	PAGE4_ENST00000376141.1_Missense_Mutation_p.D99N	NM_007003.2	NP_008934.1	O60829	GAGC1_HUMAN	P antigen family, member 4 (prostate associated)	99												Ovarian(276;0.236)					TATTTTAGGAGATGGGCAGCC	0.333000													6	3					0	0	0.003080	0	0
PADI4	23569	broad.mit.edu	37	1	17690199	17690199	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:17690199C>T	ENST00000375448.4	+	16	1967	c.1941C>T	c.(1939-1941)acC>acT	p.T647T		NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	647					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	ACTGCGGCACCAACGTGCGCA	0.602000													12	22					0	0	0.013537	0	0
TSPAN16	26526	broad.mit.edu	37	19	11408880	11408880	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:11408880G>A	ENST00000316737.1	+	2	282	c.132G>A	c.(130-132)acG>acA	p.T44T	TSPAN16_ENST00000592955.1_Silent_p.T44T|TSPAN16_ENST00000590327.1_Silent_p.T44T	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	44						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						CCTCTCTGACGAATGTCCTCG	0.537000													27	48					0	0	0.008361	0	0
SAMD7	344658	broad.mit.edu	37	3	169644770	169644770	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:169644770G>A	ENST00000428432.2	+	6	1109	c.720G>A	c.(718-720)acG>acA	p.T240T	SAMD7_ENST00000335556.3_Silent_p.T240T	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	240								p.T240T(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CAAGTGAAACGAATGAAAAGC	0.493000													10	47					0	0	0.008291	0	0
DLGAP5	9787	broad.mit.edu	37	14	55647984	55647984	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:55647984C>T	ENST00000247191.2	-	5	743	c.527G>A	c.(526-528)cGa>cAa	p.R176Q	DLGAP5_ENST00000395425.2_Missense_Mutation_p.R176Q	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	176					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TGGACCAGGTCGGATTGCTCG	0.358000													11	17					0	0	0.001855	0	0
ARID2	196528	broad.mit.edu	37	12	46246002	46246002	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:46246002A>T	ENST00000334344.6	+	15	4268	c.4096A>T	c.(4096-4098)Aaa>Taa	p.K1366*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.K976*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.K1217*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1366					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGATTTTGATAAAGGAGATGG	0.358000			"""N, S, F"""		hepatocellular carcinoma								11	5					0	0	0.008291	0	0
B3GAT1	27087	broad.mit.edu	37	11	134252840	134252840	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:134252840C>T	ENST00000524765.1	-	4	5226	c.682G>A	c.(682-684)Gag>Aag	p.E228K	B3GAT1_ENST00000312527.4_Missense_Mutation_p.E228K|B3GAT1_ENST00000537389.1_Missense_Mutation_p.E241K|B3GAT1_ENST00000392580.1_Missense_Mutation_p.E228K			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	228					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CGTGGGGCCTCGTACCGCAGG	0.657000													3	5					0	0	0.004672	0	0
TTC31	64427	broad.mit.edu	37	2	74720195	74720195	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:74720195C>T	ENST00000442235.2	+	8	724	c.386C>T	c.(385-387)tCt>tTt	p.S129F	TTC31_ENST00000410003.1_3'UTR|TTC31_ENST00000233623.5_Silent_p.L470L			Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	475							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TGTCTCCACTCTTGCATTATC	0.607000													49	131					0	0	0.014410	0	0
SCN5A	6331	broad.mit.edu	37	3	38640490	38640490	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:38640490G>A	ENST00000413689.1	-	13	2135	c.1942C>T	c.(1942-1944)Ccg>Tcg	p.P648S	SCN5A_ENST00000449557.2_Missense_Mutation_p.P648S|SCN5A_ENST00000451551.2_Missense_Mutation_p.P648S|SCN5A_ENST00000425664.1_Missense_Mutation_p.P648S|SCN5A_ENST00000423572.2_Missense_Mutation_p.P648S|SCN5A_ENST00000450102.2_Missense_Mutation_p.P648S|SCN5A_ENST00000455624.2_Missense_Mutation_p.P648S|SCN5A_ENST00000414099.2_Missense_Mutation_p.P648S|SCN5A_ENST00000333535.4_Missense_Mutation_p.P648S|SCN5A_ENST00000443581.1_Missense_Mutation_p.P648S	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	648					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCTACACACGGAGCCTGGGAG	0.647000													23	43					0	0	0.012319	0	0
CD163	9332	broad.mit.edu	37	12	7632515	7632515	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:7632515C>T	ENST00000359156.4	-	16	3623	c.3421G>A	c.(3421-3423)Gaa>Aaa	p.E1141K	CD163_ENST00000396620.3_Intron|CD163_ENST00000432237.2_Intron|CD163_ENST00000541972.1_Intron	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1141					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GCCTCCTTTTCCATTCCAGAA	0.368000													17	16					0	0	0.004990	0	0
MICAL3	57553	broad.mit.edu	37	22	18300929	18300929	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:18300929C>T	ENST00000441493.2	-	26	4850	c.4498G>A	c.(4498-4500)Gag>Aag	p.E1500K		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1500	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TGAGCAGGCTCCCGGGGGGGC	0.667000													4	12					0	0	0.009096	0	0
PTPRF	5792	broad.mit.edu	37	1	44083233	44083233	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:44083233A>T	ENST00000359947.4	+	24	4529	c.4189A>T	c.(4189-4191)Atc>Ttc	p.I1397F	PTPRF_ENST00000372414.3_Missense_Mutation_p.I1397F|PTPRF_ENST00000372413.3_Missense_Mutation_p.I1388F|PTPRF_ENST00000438120.1_Missense_Mutation_p.I1388F|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.I756F	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1397	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTTACCTCTATCGATGGTGA	0.552000													49	109					0	0	0.014410	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	23002145	23002145	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:23002145G>A	ENST00000312584.3	-	7	866	c.772C>T	c.(772-774)Ctt>Ttt	p.L258F		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	258					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CGCCGGAAAAGGACCTTGGGA	0.597000													9	33					0	0	0.006214	0	0
XKR7	343702	broad.mit.edu	37	20	30584564	30584564	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:30584564G>A	ENST00000217299.3	+	3	1218	c.1044G>A	c.(1042-1044)acG>acA	p.T348T		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	348						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AAGGGGAGACGGACTTCTGCA	0.562000													9	15					0	0	0.013537	0	0
CD163L1	283316	broad.mit.edu	37	12	7585176	7585176	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:7585176G>A	ENST00000313599.3	-	4	659	c.602C>T	c.(601-603)tCt>tTt	p.S201F	CD163L1_ENST00000396630.1_Missense_Mutation_p.S201F|CD163L1_ENST00000416109.2_Missense_Mutation_p.S211F			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	201	SRCR 2.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGAAATAAAAGAAGATGGACA	0.468000													24	14					0	0	0.002780	0	0
SLC1A1	6505	broad.mit.edu	37	9	4566058	4566058	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:4566058C>T	ENST00000262352.3	+	5	688	c.452C>T	c.(451-453)cCt>cTt	p.P151L		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	151					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	AATATGTTCCCTGAGAATCTT	0.328000													11	69					0	0	0.001855	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711578	155711578	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:155711578G>A	ENST00000295101.2	+	3	1736	c.1259G>A	c.(1258-1260)aGt>aAt	p.S420N		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	420					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TTGAGGATGAGTTCTACAACT	0.393000													36	58					0	0	0.004878	0	0
RTP2	344892	broad.mit.edu	37	3	187416406	187416406	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:187416406C>T	ENST00000358241.1	-	2	986	c.558G>A	c.(556-558)ccG>ccA	p.P186P		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	186					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		CCTGGGCCCTCGGCTTGGAGG	0.602000													9	37					0	0	0.004482	0	0
LCT	3938	broad.mit.edu	37	2	136548425	136548425	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:136548425G>A	ENST00000264162.2	-	15	5148	c.5138C>T	c.(5137-5139)tCg>tTg	p.S1713L		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1713	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTCTGGCCACGAGCGATCTGC	0.448000													9	54					0	0	0.008291	0	0
ZNF99	7652	broad.mit.edu	37	19	22951144	22951144	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:22951144C>T	ENST00000397104.3	-	3	251	c.252G>A	c.(250-252)tgG>tgA	p.W84*	ZNF99_ENST00000596209.1_Nonsense_Mutation_p.W63*					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTTCATATTCCAAGGCTCTT	0.378000													6	13					0	0	0.006214	0	0
DCUN1D3	123879	broad.mit.edu	37	16	20873618	20873618	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:20873618G>A	ENST00000324344.3	-	2	528	c.243C>T	c.(241-243)tcC>tcT	p.S81S	DCUN1D3_ENST00000563934.1_Silent_p.S81S|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	81					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		CCTCGGCATTGGACTTGGACT	0.562000													40	107					0	0	0.009718	0	0
EXT1	2131	broad.mit.edu	37	8	119122824	119122824	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:119122824A>T	ENST00000378204.2	-	1	1268	c.462T>A	c.(460-462)ttT>ttA	p.F154L		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	154					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GACTCAGGACAAAGAGGCACG	0.498000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				46	68					0	0	0.011902	0	0
ZNF551	90233	broad.mit.edu	37	19	58198211	58198211	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:58198211C>T	ENST00000282296.5	+	3	753	c.568C>T	c.(568-570)Ccc>Tcc	p.P190S	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.P174S	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTTCCCAGCCCCCACGGACCT	0.502000													11	56					0	0	0.010729	0	0
BDKRB2	624	broad.mit.edu	37	14	96706854	96706854	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:96706854C>T	ENST00000542454.2	+	3	3196	c.108C>T	c.(106-108)ttC>ttT	p.F36F	BDKRB2_ENST00000539359.1_Silent_p.F36F|BDKRB2_ENST00000306005.3_Silent_p.F63F|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Silent_p.F63F			P30411	BKRB2_HUMAN	bradykinin receptor B2	63					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		AGCCCCCCTTCCTCTGGGTGC	0.592000													25	102					0	0	0.003954	0	0
IGLV1-36	28826	broad.mit.edu	37	22	22786696	22786696	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:22786696C>T	ENST00000390301.2	+	0	286																											CTGACCGATTCTCTGGCTCCA	0.532000													32	71					0	0	0.009535	0	0
PLEC	5339	broad.mit.edu	37	8	144996879	144996879	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:144996879G>A	ENST00000322810.4	-	31	7798	c.7629C>T	c.(7627-7629)ttC>ttT	p.F2543F	PLEC_ENST00000398774.2_Silent_p.F2374F|PLEC_ENST00000354589.3_Silent_p.F2406F|PLEC_ENST00000436759.2_Silent_p.F2433F|PLEC_ENST00000356346.3_Silent_p.F2392F|PLEC_ENST00000527096.1_Silent_p.F2429F|PLEC_ENST00000345136.3_Silent_p.F2406F|PLEC_ENST00000357649.2_Silent_p.F2410F|PLEC_ENST00000354958.2_Silent_p.F2384F	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2543	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTGCTTCCGGAAGCGCTGGG	0.677000													8	12					0	0	0.003080	0	0
HRG	3273	broad.mit.edu	37	3	186395181	186395181	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:186395181G>A	ENST00000232003.4	+	7	1167	c.1087G>A	c.(1087-1089)Gga>Aga	p.G363R		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	363	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		gcatccccatggacaccatcc	0.507000													10	12					0	0	0.006214	0	0
TRPC5	7224	broad.mit.edu	37	X	111090643	111090643	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:111090643C>T	ENST00000262839.2	-	6	2317	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	467					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCCCATTCCTCCCTTGGACGA	0.428000													11	21					0	0	0.001855	0	0
PSMD2	5708	broad.mit.edu	37	3	184019348	184019348	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:184019348C>T	ENST00000310118.4	+	4	939	c.381C>T	c.(379-381)tcC>tcT	p.S127S	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_5'UTR|PSMD2_ENST00000435761.1_5'UTR|PSMD2_ENST00000459910.1_3'UTR	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	127					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	ACATCATCTCCGTTTTGGCCA	0.488000													33	56					0	0	0.009535	0	0
RBP3	5949	broad.mit.edu	37	10	48387923	48387923	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:48387923C>T	ENST00000224600.4	-	1	3068	c.2955G>A	c.(2953-2955)ctG>ctA	p.L985L		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	985	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGTCAGCCCCCAGGATCTCGG	0.617000													12	51					0	0	0.001855	0	0
COL1A2	1278	broad.mit.edu	37	7	94052311	94052311	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:94052311G>A	ENST00000297268.6	+	40	2917	c.2446G>A	c.(2446-2448)Gaa>Aaa	p.E816K		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	816			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGCTGGGAAAGAAGGGCTTCG	0.562000										HNSCC(75;0.22)			31	95					0	0	0.009535	0	0
NF1	4763	broad.mit.edu	37	17	29679366	29679366	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:29679366C>T	ENST00000358273.4	+	51	7932	c.7549C>T	c.(7549-7551)Cga>Tga	p.R2517*	NF1_ENST00000356175.3_Nonsense_Mutation_p.R2496*|NF1_ENST00000444181.2_Nonsense_Mutation_p.R310*|NF1_ENST00000417592.2_Intron	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2517					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.R2517*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GACCAGTCCCCGAGCCAGGAA	0.468000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			15	14					0	0	0.003163	0	0
KCNQ3	3786	broad.mit.edu	37	8	133144457	133144457	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:133144457C>T	ENST00000388996.4	-	14	2274	c.1854G>A	c.(1852-1854)atG>atA	p.M618I	KCNQ3_ENST00000521134.1_Missense_Mutation_p.M498I|KCNQ3_ENST00000519445.1_Missense_Mutation_p.M606I	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	618					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ACTTCCCCATCATGCTTTGGT	0.348000													4	24					0	0	0.009096	0	0
TEKT4	150483	broad.mit.edu	37	2	95541342	95541342	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:95541342G>A	ENST00000295201.4	+	5	1083	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	316					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GACACTGCGGGAAATCACAGA	0.607000													18	22					0	0	0.007413	0	0
OR4K17	390436	broad.mit.edu	37	14	20586527	20586527	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:20586527G>A	ENST00000315543.4	+	1	962	c.962G>A	c.(961-963)aGa>aAa	p.R321K		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TATACTCTGAGAAACAAAGAA	0.363000													4	30					0	0	0.009096	0	0
SAMD9	54809	broad.mit.edu	37	7	92732986	92732986	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:92732986G>A	ENST00000379958.2	-	3	2694	c.2425C>T	c.(2425-2427)Ctt>Ttt	p.L809F		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	809						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TACTGCAGAAGATAGACATTA	0.363000													18	53					0	0	0.007413	0	0
ZNF501	115560	broad.mit.edu	37	3	44776090	44776090	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:44776090C>T	ENST00000396048.2	+	3	614	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	59					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		GAAGTTGTTTCCGTAAACAGT	0.398000													6	41					0	0	0.001168	0	0
GRIA4	2893	broad.mit.edu	37	11	105795202	105795202	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:105795202G>A	ENST00000393127.2	+	12	2000	c.1554G>A	c.(1552-1554)atG>atA	p.M518I	GRIA4_ENST00000530497.1_Missense_Mutation_p.M518I|GRIA4_ENST00000525187.1_Missense_Mutation_p.M518I|GRIA4_ENST00000282499.5_Missense_Mutation_p.M518I	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	518					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	AGCCCTTCATGAGTTTGGGCA	0.418000													35	58					0	0	0.003271	0	0
TIGIT	201633	broad.mit.edu	37	3	114014666	114014666	+	Silent	SNP	C	C	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:114014666C>G	ENST00000481065.1	+	3	3152	c.537C>G	c.(535-537)acC>acG	p.T179T	TIGIT_ENST00000486257.1_Silent_p.T112T|TIGIT_ENST00000383671.3_Silent_p.T112T			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	112					negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						TCTATCACACCTACCCTGATG	0.562000													11	40					0	0	0.013537	0	0
ATP13A5	344905	broad.mit.edu	37	3	192994600	192994600	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:192994600G>A	ENST00000342358.4	-	29	3452	c.3335C>T	c.(3334-3336)tCg>tTg	p.S1112L	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1112					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AACCCTCCACGATGTTATGGT	0.313000													13	20					0	0	0.003163	0	0
BIRC6	57448	broad.mit.edu	37	2	32726811	32726811	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:32726811A>T	ENST00000421745.2	+	47	9197	c.9063A>T	c.(9061-9063)gaA>gaT	p.E3021D		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3021					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.E2993D(1)|p.E3021D(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTAAACATGAAAACTTTCATG	0.398000													11	54					0	0	0.013537	0	0
EPRS	2058	broad.mit.edu	37	1	220191809	220191809	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:220191809G>A	ENST00000366923.3	-	12	1745	c.1476C>T	c.(1474-1476)atC>atT	p.I492I		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	492	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TAAACGCCCAGATTTTGTCCC	0.378000													14	47					0	0	0.003163	0	0
PDZD8	118987	broad.mit.edu	37	10	119044546	119044546	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:119044546G>A	ENST00000334464.5	-	5	1937	c.1698C>T	c.(1696-1698)ccC>ccT	p.P566P	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	566	Pro-rich.				intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		AAGTTTTTAGGGGTGGAGGTT	0.453000													23	52					0	0	0.003954	0	0
LRRTM3	347731	broad.mit.edu	37	10	68688078	68688078	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:68688078C>T	ENST00000361320.4	+	2	1982	c.1404C>T	c.(1402-1404)tcC>tcT	p.S468S	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	468						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AAAGACAGTCCCTAAAGCAAA	0.522000													9	30					0	0	0.006214	0	0
TBC1D3B	414059	broad.mit.edu	37	17	34499226	34499226	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:34499226C>T	ENST00000454519.3	-	7	634	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	CTB-91J4.1_ENST00000592460.1_RNA|TBC1D3B_ENST00000398801.3_Missense_Mutation_p.R162Q	NM_001001417.5	NP_001001417.5	A6NDS4	TBC3B_HUMAN	TBC1 domain family, member 3B	162	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGTTCCGTATCGATCCCTGAA	0.567000													118	400					0	0	0.014410	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810436	65810436	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:65810436G>A	ENST00000312006.4	-	3	1119	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.P280S	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	280					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						agcgccgcggggATGGCGGCC	0.751000													4	8					0	0	0.009096	0	0
RASGRF2	5924	broad.mit.edu	37	5	80382676	80382676	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:80382676G>A	ENST00000265080.4	+	9	1361	c.1294G>A	c.(1294-1296)Gac>Aac	p.D432N	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	432					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TGAAGTCAGCGACACTGAAAA	0.468000													5	23					0	0	0.000602	0	0
LRRC8D	55144	broad.mit.edu	37	1	90399360	90399360	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:90399360G>A	ENST00000337338.5	+	3	1140	c.733G>A	c.(733-735)Ggg>Agg	p.G245R	LRRC8D_ENST00000394593.3_Missense_Mutation_p.G245R	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	245						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CAGTGATGAAGGGAGCCCCAG	0.458000													17	34					0	0	0.007413	0	0
TIMD4	91937	broad.mit.edu	37	5	156375506	156375506	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:156375506G>A	ENST00000274532.2	-	5	821	c.765C>T	c.(763-765)tcC>tcT	p.S255S	TIMD4_ENST00000407087.3_Intron	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	255	Ser-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCCAAACTTTGGACTCTTTGG	0.433000													29	91					0	0	0.008361	0	0
RGS7	6000	broad.mit.edu	37	1	241519024	241519024	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:241519024G>A	ENST00000366565.1	-	2	434	c.53C>T	c.(52-54)tCa>tTa	p.S18L	RGS7_ENST00000366562.4_Missense_Mutation_p.S18L|RGS7_ENST00000348120.2_Missense_Mutation_p.S18L|RGS7_ENST00000366564.1_Missense_Mutation_p.S18L|RGS7_ENST00000407727.1_Missense_Mutation_p.S18L|RGS7_ENST00000401882.1_Missense_Mutation_p.S18L|RGS7_ENST00000366563.1_Missense_Mutation_p.S18L	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	18					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)			CATGTTGGGTGATTCATCGGC	0.468000													32	55					0	0	0.013726	0	0
TTN	7273	broad.mit.edu	37	2	179542471	179542471	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179542471C>T	ENST00000589042.1	-	146	34392	c.34168G>A	c.(34168-34170)Gaa>Aaa	p.E11390K	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E10146K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E11073K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11073	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)			GGTGGAATTTCCTCTTCTTCA	0.433000													21	105					0	0	0.004656	0	0
LAMA3	3909	broad.mit.edu	37	18	21483903	21483903	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:21483903G>A	ENST00000313654.9	+	50	6566	c.6325G>A	c.(6325-6327)Gaa>Aaa	p.E2109K	LAMA3_ENST00000399516.3_Missense_Mutation_p.E2053K|LAMA3_ENST00000269217.6_Missense_Mutation_p.E500K|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.E444K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2109	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATAGGAATATGAAAAATTAGC	0.363000													7	43					0	0	0.003080	0	0
ZMYND12	84217	broad.mit.edu	37	1	42905641	42905641	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:42905641G>A	ENST00000372565.3	-	4	749	c.480C>T	c.(478-480)gtC>gtT	p.V160V	ZMYND12_ENST00000433602.2_Silent_p.V50V	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	160						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTGATTTGAGGACTGTCCACT	0.443000													21	112					0	0	0.003330	0	0
RYR2	6262	broad.mit.edu	37	1	237843767	237843767	+	Silent	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:237843767T>A	ENST00000366574.2	+	62	9224	c.8907T>A	c.(8905-8907)ccT>ccA	p.P2969P	RYR2_ENST00000542537.1_Silent_p.P2953P|RYR2_ENST00000360064.6_Silent_p.P2967P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2969	Modulator (Potential).				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)			TCGTTCTTCCTTTAATTGATC	0.423000													12	18					0	0	0.013537	0	0
QRICH2	84074	broad.mit.edu	37	17	74287112	74287112	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:74287112G>A	ENST00000262765.5	-	4	3377	c.3198C>T	c.(3196-3198)ttC>ttT	p.F1066F		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1066							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GTGCCAGCAGGAACTGGATCT	0.532000													67	24					0	0	0.014410	0	0
DTWD1	56986	broad.mit.edu	37	15	49924493	49924493	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:49924493C>T	ENST00000251250.6	+	4	609	c.402C>T	c.(400-402)gaC>gaT	p.D134D	DTWD1_ENST00000403028.3_Silent_p.D134D|DTWD1_ENST00000558653.1_Silent_p.D134D|DTWD1_ENST00000415425.1_Silent_p.D47D|DTWD1_ENST00000559223.1_3'UTR	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	134										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		AAGAAAAGGACCATGAAGTAG	0.318000													9	48					0	0	0.013537	0	0
TTN	7273	broad.mit.edu	37	2	179638756	179638756	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179638756G>A	ENST00000589042.1	-	31	7363	c.7139C>T	c.(7138-7140)tCc>tTc	p.S2380F	TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S2334F|TTN_ENST00000360870.5_Missense_Mutation_p.S2380F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S2334F|TTN_ENST00000342992.6_Missense_Mutation_p.S2380F|TTN_ENST00000342175.6_Missense_Mutation_p.S2334F|TTN_ENST00000591111.1_Missense_Mutation_p.S2380F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2103	Ig-like 13.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S2334F(2)|p.S2380F(2)		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)			ACTTTCCAAGGAGACTTTAAC	0.473000													45	62					0	0	0.010771	0	0
PAPL	390928	broad.mit.edu	37	19	39591400	39591400	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:39591400C>A	ENST00000331256.5	+	7	988	c.714C>A	c.(712-714)caC>caA	p.H238Q	PAPL_ENST00000594229.1_Missense_Mutation_p.T197K	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		238						extracellular region	acid phosphatase activity|metal ion binding										GTCCCGCCCACATCATCTCCT	0.607000													14	35					3.27435e-08	3.57051e-08	0.002450	1	0
SIRPA	140885	broad.mit.edu	37	20	1902297	1902297	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:1902297C>T	ENST00000358771.4	+	3	845	c.693C>T	c.(691-693)gcC>gcT	p.A231A	SIRPA_ENST00000356025.3_Silent_p.A231A|SIRPA_ENST00000400068.3_Silent_p.A231A	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	231	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GCGAGGTGGCCCACGTCACCT	0.617000													4	48					0	0	0.003080	0	0
LEPREL1	55214	broad.mit.edu	37	3	189700921	189700921	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:189700921G>A	ENST00000319332.5	-	8	1435	c.1238C>T	c.(1237-1239)tCa>tTa	p.S413L	LEPREL1_ENST00000427335.2_Missense_Mutation_p.S232L	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	413					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GTTCACTCCTGAAGGGACCCT	0.408000													26	71					0	0	0.007291	0	0
ARPP21	10777	broad.mit.edu	37	3	35750488	35750488	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:35750488G>A	ENST00000187397.4	+	11	1279	c.823G>A	c.(823-825)Gac>Aac	p.D275N	ARPP21_ENST00000458225.1_Intron|ARPP21_ENST00000337271.5_Intron|ARPP21_ENST00000417925.1_Intron|ARPP21_ENST00000444190.1_Intron	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	275						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ATTTAGAGATGACAGACGAAG	0.383000													4	14					0	0	0.000602	0	0
GRIN2A	2903	broad.mit.edu	37	16	10273906	10273906	+	Silent	SNP	G	G	A	rs145961628		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:10273906G>A	ENST00000396573.2	-	3	672	c.363C>T	c.(361-363)ttC>ttT	p.F121F	GRIN2A_ENST00000330684.3_Silent_p.F121F|GRIN2A_ENST00000562109.1_Silent_p.F121F|GRIN2A_ENST00000396575.2_Silent_p.F121F|GRIN2A_ENST00000404927.2_Silent_p.F121F	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	121					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.F121L(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGATGGGGACGAAGGTGTGGG	0.602000													19	36					0	0	0.012319	0	0
NPR1	4881	broad.mit.edu	37	1	153661483	153661483	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:153661483G>A	ENST00000368680.3	+	16	2944	c.2472G>A	c.(2470-2472)gcG>gcA	p.A824A		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	824					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	p.A824A(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	AGCAGTACGCGAACAATCTGG	0.622000													48	87					0	0	0.014410	0	0
EED	8726	broad.mit.edu	37	11	85963196	85963196	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:85963196C>T	ENST00000263360.6	+	3	960	c.274C>T	c.(274-276)Cat>Tat	p.H92Y	EED_ENST00000327320.4_Missense_Mutation_p.H92Y|EED_ENST00000528180.1_Missense_Mutation_p.H92Y|EED_ENST00000351625.6_Missense_Mutation_p.H92Y	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	92	Interaction with EZH2 (By similarity).				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				ATAGGAAGATCATAACCAACC	0.343000													6	24					0	0	0.001984	0	0
LRRC7	57554	broad.mit.edu	37	1	70478773	70478773	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:70478773G>A	ENST00000310961.5	+	14	1569		c.e14+1		LRRC7_ENST00000035383.5_Splice_Site|LRRC7_ENST00000415775.2_Splice_Site			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7							centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GTGACAACAGGTATTTTTGCA	0.328000													43	70					0	0	0.009718	0	0
CORO1A	11151	broad.mit.edu	37	16	30199684	30199684	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:30199684G>A	ENST00000219150.5	+	10	1373	c.1068G>A	c.(1066-1068)tcG>tcA	p.S356S	CORO1A_ENST00000570045.1_Silent_p.S356S|CORO1A_ENST00000565497.1_Intron	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	356					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						GCCCACAGTCGGACCTGTTCC	0.677000													19	73					0	0	0.007413	0	0
HOXB13	10481	broad.mit.edu	37	17	46804308	46804308	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:46804308C>T	ENST00000290295.7	-	2	1283	c.699G>A	c.(697-699)cgG>cgA	p.R233R		NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	233					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						CCGCATACTCCCGCTCCAGCT	0.612000													47	25					0	0	0.014410	0	0
PPM1E	22843	broad.mit.edu	37	17	57058257	57058257	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:57058257G>A	ENST00000308249.2	+	7	2262	c.2133G>A	c.(2131-2133)ggG>ggA	p.G711G		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	720					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			CTGGAAGTGGGAAGAGAAATA	0.418000													39	14					0	0	0.006230	0	0
C6orf165	154313	broad.mit.edu	37	6	88144730	88144730	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:88144730G>A	ENST00000507897.1	+	11	1536	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	C6ORF165_ENST00000369562.4_Missense_Mutation_p.E485K			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	485										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TCAACTATTGGAACTTCATCA	0.269000													19	36					0	0	0.007413	0	0
KXD1	79036	broad.mit.edu	37	19	18672911	18672911	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:18672911C>T	ENST00000602094.1	+	2	1505	c.45C>T	c.(43-45)atC>atT	p.I15I	KXD1_ENST00000595073.1_Silent_p.I15I|KXD1_ENST00000601630.1_Silent_p.I15I|KXD1_ENST00000222307.4_Silent_p.I15I|KXD1_ENST00000599000.1_Silent_p.I15I|KXD1_ENST00000540691.1_Silent_p.I15I|KXD1_ENST00000598830.1_Silent_p.I15I|KXD1_ENST00000599319.1_Silent_p.I15I|KXD1_ENST00000539106.1_Silent_p.I15I			Q9BQD3	CS050_HUMAN	KxDL motif containing 1	15							protein binding										GCGGCCGCATCCTGAGCATGG	0.587000													9	17					0	0	0.013537	0	0
HSD17B7	51478	broad.mit.edu	37	1	162767626	162767626	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:162767626C>T	ENST00000367917.3	+	4	435	c.367C>T	c.(367-369)Ctg>Ttg	p.L123L	HSD17B7_ENST00000254521.3_Silent_p.L123L|HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367913.1_3'UTR			P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	123					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)				NADH(DB00157)	AGCTGAAGGCCTGCTGACCCA	0.413000													7	23					0	0	0.010729	0	0
OR2T34	127068	broad.mit.edu	37	1	248737590	248737590	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248737590C>T	ENST00000328782.2	-	1	490	c.469G>A	c.(469-471)Gga>Aga	p.G157R		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAACCATTCCCAAAACCCAG	0.522000													10	26					0	0	0.006122	0	0
KDM4D	55693	broad.mit.edu	37	11	94731240	94731240	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:94731240C>T	ENST00000335080.5	+	3	1536	c.704C>T	c.(703-705)tCc>tTc	p.S235F	KDM4D_ENST00000536741.1_Missense_Mutation_p.S235F	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	235	JmjC.				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			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CCAGGCAGTTCCCGGGGTTGT	0.592000													10	42					0	0	0.010729	0	0
OR56B1	387748	broad.mit.edu	37	11	5758396	5758396	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5758396G>A	ENST00000317121.3	+	1	716	c.650G>A	c.(649-651)gGg>gAg	p.G217E	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CTTGGAATGGGGAGTGATCTA	0.478000													7	29					0	0	0.001984	0	0
PLCL2	23228	broad.mit.edu	37	3	17052024	17052024	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:17052024G>A	ENST00000418129.2	+	2	1273	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000432376.1_Missense_Mutation_p.E270K|PLCL2_ENST00000396755.2_Missense_Mutation_p.E270K	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	396					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AGAGGGTCAGGAAAAGGGCTG	0.403000													16	47					0	0	0.003163	0	0
MYLK4	340156	broad.mit.edu	37	6	2683362	2683362	+	Missense_Mutation	SNP	C	C	T	rs147055313	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:2683362C>T	ENST00000274643.7	-	7	922	c.580G>A	c.(580-582)Gat>Aat	p.D194N	MYLK4_ENST00000268446.5_Missense_Mutation_p.D194N	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	194	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TAGCTCTCATCGATGATGCGG	0.488000													19	34					0	0	0.008871	0	0
COL11A2	1302	broad.mit.edu	37	6	33132116	33132116	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:33132116G>A	ENST00000341947.2	-	65	5225	c.4998C>T	c.(4996-4998)ctC>ctT	p.L1666L	COL11A2_ENST00000374708.4_Silent_p.L1580L|COL11A2_ENST00000374714.1_Silent_p.L1640L|COL11A2_ENST00000374712.1_Silent_p.L1585L|COL11A2_ENST00000395197.1_Silent_p.L1606L|COL11A2_ENST00000374713.1_Silent_p.L1619L|COL11A2_ENST00000357486.1_Silent_p.L1645L|COL11A2_ENST00000361917.1_Silent_p.L1559L|COL11A2_ENST00000477772.1_5'UTR	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1666	Fibrillar collagen NC1.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TGGCCCCACGGAGTCTCAGGG	0.627000													13	20					0	0	0.002450	0	0
HEPH	9843	broad.mit.edu	37	X	65390523	65390523	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:65390523G>A	ENST00000519389.1	+	2	452	c.273G>A	c.(271-273)tgG>tgA	p.W91*	HEPH_ENST00000343002.2_Nonsense_Mutation_p.W37*|HEPH_ENST00000419594.1_Nonsense_Mutation_p.W40*|HEPH_ENST00000441993.2_Nonsense_Mutation_p.W40*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.W40*|HEPH_ENST00000336279.5_Intron			Q9BQS7	HEPH_HUMAN	hephaestin	37	Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ATGTGCAGTGGAACTATGCTC	0.522000													11	6					0	0	0.008291	0	0
OR52N4	390072	broad.mit.edu	37	11	5776645	5776645	+	Silent	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5776645G>T	ENST00000317254.3	+	1	723	c.675G>T	c.(673-675)cgG>cgT	p.R225R	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TGATTCTCCGGGCAGTGGTCA	0.488000													22	58					4.16121e-05	4.51223e-05	0.002780	1	0
FKBP9L	360132	broad.mit.edu	37	7	55752937	55752937	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:55752937C>T	ENST00000455909.1	-	0	626					NR_027340.1|NR_027342.1				FK506 binding protein 9-like											endometrium(1)|kidney(1)|lung(3)	5						CCTCACCATTCCATATGAACA	0.522000													4	22					0	0	0.000602	0	0
USP7	7874	broad.mit.edu	37	16	8990881	8990881	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:8990881C>A	ENST00000344836.4	-	26	2992	c.2794G>T	c.(2794-2796)Ggg>Tgg	p.G932W	USP7_ENST00000535863.1_Missense_Mutation_p.G833W|USP7_ENST00000381886.4_Missense_Mutation_p.G916W	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	932					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GCTTTCTCCCCAAGCTCCACG	0.448000													26	145					3.73148e-12	4.08601e-12	0.007291	1	0
TBPL2	387332	broad.mit.edu	37	14	55907200	55907200	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:55907200G>T	ENST00000247219.5	-	1	134	c.64C>A	c.(64-66)Ccg>Acg	p.P22T		NM_199047.2	NP_950248.1	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	22	Poly-Pro.				multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						GGTGGGGGCGGGTAAGAGGGT	0.697000													20	40					3.5997e-14	3.94459e-14	0.014323	1	0
MYH2	4620	broad.mit.edu	37	17	10440619	10440619	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:10440619C>T	ENST00000245503.5	-	16	2212	c.1828G>A	c.(1828-1830)Gga>Aga	p.G610R	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.G610R|MYH2_ENST00000532183.1_Missense_Mutation_p.G610R	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	610	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGGTACAGTCCAACCACGGTC	0.483000													55	59					0	0	0.014410	0	0
MAGEA1	4100	broad.mit.edu	37	X	152482399	152482399	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:152482399C>T	ENST00000356661.5	-	3	830	c.612G>A	c.(610-612)atG>atA	p.M204I		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	204	MAGE.					cytoplasm|plasma membrane				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCGCCCTCCATTGCAATCA	0.547000													34	17					0	0	0.004878	0	0
XIRP2	129446	broad.mit.edu	37	2	168103356	168103356	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:168103356G>A	ENST00000409195.1	+	9	5543	c.5454G>A	c.(5452-5454)aaG>aaA	p.K1818K	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.K1596K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.K1818K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1643					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACACAGTTAAGGTTTTTATGA	0.408000													10	63					0	0	0.008291	0	0
NAALADL2	254827	broad.mit.edu	37	3	175165038	175165038	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:175165038G>A	ENST00000454872.1	+	6	1240	c.1112G>A	c.(1111-1113)cGa>cAa	p.R371Q	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	371					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AGACAAAGCCGATCAAACCTC	0.378000													6	9					0	0	0.001168	0	0
CFAP54	144535	broad.mit.edu	37	12	97073515	97073515	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:97073515C>T	ENST00000524981.3	+	7	1054	c.1054C>T	c.(1054-1056)Ctt>Ttt	p.L352F				Q6ZTY8	CL063_HUMAN		326										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						TTCATTATTTCTTGCACAGAC	0.428000													60	36					0	0	0.014410	0	0
EPHA8	2046	broad.mit.edu	37	1	22902951	22902951	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:22902951G>A	ENST00000166244.3	+	3	473	c.401G>A	c.(400-402)gGg>gAg	p.G134E	EPHA8_ENST00000374644.4_Missense_Mutation_p.G134E|EPHA8_ENST00000538803.1_Missense_Mutation_p.G134E	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	134						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGCGACCTGGGGGCCAGCACA	0.587000													20	42					0	0	0.008871	0	0
GABBR2	9568	broad.mit.edu	37	9	101056138	101056138	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:101056138C>T	ENST00000259455.2	-	18	3048	c.2589G>A	c.(2587-2589)caG>caA	p.Q863Q		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	863					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TCCACTGTAGCTGGGGATTTT	0.373000													35	53					0	0	0.004289	0	0
MIER2	54531	broad.mit.edu	37	19	307485	307485	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:307485G>A	ENST00000264819.4	-	13	1260	c.1250C>T	c.(1249-1251)gCc>gTc	p.A417V		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		TCCATCAGAGGCCACTCCGGG	0.672000													5	11					0	0	0.000602	0	0
ARIH2	10425	broad.mit.edu	37	3	49011154	49011154	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:49011154C>T	ENST00000356401.4	+	9	1132	c.793C>T	c.(793-795)Cac>Tac	p.H265Y	ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Missense_Mutation_p.H265Y	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	265					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TCAGATGTATCACGCACCCAC	0.408000													11	36					0	0	0.010729	0	0
STARD4	134429	broad.mit.edu	37	5	110835597	110835597	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:110835597C>T	ENST00000296632.3	-	6	739	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	STARD4_ENST00000512160.1_3'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	202	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		TAAAGCTTTTCGTAAATCACC	0.403000													8	31					0	0	0.003080	0	0
TGM5	9333	broad.mit.edu	37	15	43552275	43552275	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:43552275G>A	ENST00000220420.5	-	3	418	c.411C>T	c.(409-411)atC>atT	p.I137I	TGM5_ENST00000349114.4_Intron	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	137					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TGAAAAGCAGGATGAACTCCC	0.602000													11	46					0	0	0.008291	0	0
MC2R	4158	broad.mit.edu	37	18	13884916	13884916	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:13884916C>T	ENST00000327606.3	-	2	782	c.602G>A	c.(601-603)cGa>cAa	p.R201Q		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	201					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GGTGTGGGATCGAGCCAGCAG	0.577000													20	27					0	0	0.010504	0	0
PRAMEF17	391004	broad.mit.edu	37	1	13716932	13716932	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:13716932G>A	ENST00000376098.4	+	2	445	c.419G>A	c.(418-420)aGg>aAg	p.R140K		NM_001099851.1	NP_001093321.1	Q5VTA0	PRA17_HUMAN	PRAME family member 17	140										kidney(1)|lung(2)	3	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;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACTATCCAAGGACGGGAGAG	0.537000													40	161					0	0	0.014410	0	0
FOXJ2	55810	broad.mit.edu	37	12	8196551	8196551	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:8196551C>T	ENST00000162391.3	+	5	1627	c.482C>T	c.(481-483)tCc>tTc	p.S161F	FOXJ2_ENST00000428177.2_Missense_Mutation_p.S161F	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	161					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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 factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CCTCAGCTGTCCCAAGACTCA	0.542000													44	15					0	0	0.011902	0	0
ZNF622	90441	broad.mit.edu	37	5	16453243	16453243	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:16453243G>A	ENST00000308683.2	-	5	1311	c.1185C>T	c.(1183-1185)tcC>tcT	p.S395S		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	395						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						ATCTCATCAAGGAGCGATGAC	0.478000													12	48					0	0	0.010729	0	0
NUP205	23165	broad.mit.edu	37	7	135279449	135279449	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:135279449C>T	ENST00000285968.6	+	13	2011	c.1985C>T	c.(1984-1986)tCc>tTc	p.S662F	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	662					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ATTGCTGCTTCCCTCTGGCAG	0.448000													13	32					0	0	0.004007	0	0
SIK3	23387	broad.mit.edu	37	11	116732000	116732000	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:116732000G>A	ENST00000375300.1	-	18	2276	c.2271C>T	c.(2269-2271)atC>atT	p.I757I	SIK3_ENST00000542607.1_Silent_p.I699I|SIK3_ENST00000488337.1_Intron|SIK3_ENST00000292055.4_Silent_p.I699I|SIK3_ENST00000434315.2_Silent_p.I598I|SIK3_ENST00000446921.2_Silent_p.I757I|SIK3_ENST00000375288.1_Intron			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	699	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CGTGAGGCTGGATCATGGCAC	0.498000													44	294					0	0	0.014410	0	0
MAGI2	9863	broad.mit.edu	37	7	77824342	77824342	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:77824342C>T	ENST00000354212.4	-	12	2371	c.2118G>A	c.(2116-2118)acG>acA	p.T706T	MAGI2_ENST00000522391.1_Silent_p.T706T|MAGI2_ENST00000419488.1_Silent_p.T706T	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	706						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CAGATAAACTCGTTTGAGGAC	0.507000													7	36					0	0	0.004482	0	0
RSBN1	54665	broad.mit.edu	37	1	114354713	114354713	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:114354713G>A	ENST00000261441.5	-	1	385	c.322C>T	c.(322-324)Cct>Tct	p.P108S		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	108	Pro-rich.					nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAGCGAGAGGGGGCTCCTGG	0.697000													5	13					0	0	0.001984	0	0
PTPRC	5788	broad.mit.edu	37	1	198687359	198687359	+	Silent	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:198687359T>C	ENST00000367376.2	+	14	1752	c.1581T>C	c.(1579-1581)gtT>gtC	p.V527V	PTPRC_ENST00000352140.3_Silent_p.V479V|PTPRC_ENST00000348564.6_Silent_p.V368V|PTPRC_ENST00000442510.2_Silent_p.V529V|PTPRC_ENST00000594404.1_Silent_p.V366V	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	527	Fibronectin type-III 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATACTCTGGTTAGAAATGAGT	0.393000													11	23					0	0	0.008291	0	0
NOG	9241	broad.mit.edu	37	17	54671853	54671853	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:54671853G>A	ENST00000332822.4	+	1	794	c.269G>A	c.(268-270)gGg>gAg	p.G90E		NM_005450.4	NP_005441.1	Q13253	NOGG_HUMAN	noggin	90					BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing	extracellular space	cytokine binding|protein homodimerization activity			ovary(1)	1	Breast(9;5.24e-08)					cggcccggcgggggcgggggT	0.721000													14	14					0	0	0.002450	0	0
ITGA8	8516	broad.mit.edu	37	10	15646320	15646320	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:15646320G>A	ENST00000378076.3	-	20	2358	c.2005C>T	c.(2005-2007)Cac>Tac	p.H669Y		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	669					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AGCATAAGGTGATTTTCATCT	0.343000													6	25					0	0	0.001168	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653856	46653856	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:46653856G>A	ENST00000253255.5	-	1	5363	c.5364C>T	c.(5362-5364)atC>atT	p.I1788I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1788					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GAAGGCCAAGGATTTTAGACG	0.413000													64	74					0	0	0.014410	0	0
OR1J2	26740	broad.mit.edu	37	9	125273488	125273488	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:125273488G>A	ENST00000335302.5	+	1	408	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CTGTCATCATGAGGGAAGAGC	0.458000													11	30					0	0	0.010729	0	0
C12orf42	374470	broad.mit.edu	37	12	103795408	103795408	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:103795408C>T	ENST00000378113.2	-	3	349	c.124G>A	c.(124-126)Gat>Aat	p.D42N	C12orf42_ENST00000548883.1_Missense_Mutation_p.D42N|C12orf42_ENST00000548048.1_5'UTR|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000315192.8_Missense_Mutation_p.D42N	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	42										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GTGCTTCTATCCCACAGGGTG	0.438000													18	13					0	0	0.006122	0	0
PCDH17	27253	broad.mit.edu	37	13	58299120	58299120	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:58299120G>A	ENST00000377918.3	+	4	3198	c.3172G>A	c.(3172-3174)Gaa>Aaa	p.E1058K		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1058					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGATGGCTGTGAAGCAAAACC	0.552000													4	34					0	0	0.009096	0	0
PRKACG	5568	broad.mit.edu	37	9	71628844	71628844	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:71628844G>A	ENST00000377276.2	-	1	195	c.165C>T	c.(163-165)ttC>ttT	p.F55F		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	55	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TCACCCGCCCGAAGGAGCCCA	0.592000													10	52					0	0	0.008291	0	0
APP	351	broad.mit.edu	37	21	27423460	27423460	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:27423460G>A	ENST00000358918.3	-	5	717	c.518C>T	c.(517-519)cCc>cTc	p.P173L	APP_ENST00000448388.2_Missense_Mutation_p.P138L|APP_ENST00000359726.3_Missense_Mutation_p.P173L|APP_ENST00000354192.3_Missense_Mutation_p.P117L|APP_ENST00000439274.2_Missense_Mutation_p.P117L|APP_ENST00000348990.5_Missense_Mutation_p.P173L|APP_ENST00000346798.3_Missense_Mutation_p.P173L|APP_ENST00000440126.3_Missense_Mutation_p.P168L|APP_ENST00000474136.1_5'UTR|APP_ENST00000357903.3_Missense_Mutation_p.P173L	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	173					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				AATTCCGCAGGGCAGCAACAT	0.478000													10	6					0	0	0.013537	0	0
ZNF439	90594	broad.mit.edu	37	19	11978815	11978815	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:11978815C>T	ENST00000304030.2	+	3	1131	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Missense_Mutation_p.R175C	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						CATGTGTCCCCGTTATGTTCG	0.413000													29	40					0	0	0.007291	0	0
CES1P1	51716	broad.mit.edu	37	16	55798809	55798809	+	RNA	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:55798809C>A	ENST00000571348.1	+	0	296					NR_003276.2																						CACCTCGTACCCTCCTATGTA	0.567000													9	5					4.68919e-08	5.11239e-08	0.008291	1	0
PKD1L1	168507	broad.mit.edu	37	7	47879094	47879094	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:47879094G>A	ENST00000289672.2	-	36	5769	c.5719C>T	c.(5719-5721)Cgc>Tgc	p.R1907C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1907	PLAT.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CGCTCCACGCGACCATCATGC	0.657000													4	27					0	0	0.001168	0	0
TENM4	26011	broad.mit.edu	37	11	78383364	78383364	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:78383364C>T	ENST00000278550.7	-	31	5969	c.5507G>A	c.(5506-5508)cGa>cAa	p.R1836Q		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TAGGAGATTTCGGTTGTGAAC	0.502000													5	66					0	0	0.001984	0	0
PAPPA	5069	broad.mit.edu	37	9	118969825	118969825	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:118969825G>A	ENST00000328252.3	+	3	1938	c.1569G>A	c.(1567-1569)gaG>gaA	p.E523E	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	523	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCTCAGAGGAGGAGTTGGCAG	0.443000													10	30					0	0	0.006214	0	0
OR8K5	219453	broad.mit.edu	37	11	55927621	55927621	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:55927621G>A	ENST00000313447.1	-	1	172	c.173C>T	c.(172-174)cCt>cTt	p.P58L		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				AAAGTACATAGGTGTATGTAA	0.403000													21	31					0	0	0.014323	0	0
C3	718	broad.mit.edu	37	19	6697421	6697421	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:6697421C>T	ENST00000245907.6	-	21	2822	c.2730G>A	c.(2728-2730)gtG>gtA	p.V910V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	910					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CCTTGACTTCCACTTCCTGCA	0.567000													8	39					0	0	0.003080	0	0
TENM1	10178	broad.mit.edu	37	X	123654524	123654524	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:123654524C>T	ENST00000422452.2	-	18	3207	c.3144G>A	c.(3142-3144)acG>acA	p.T1048T	TENM1_ENST00000371130.3_Silent_p.T1048T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTACAGGAATCGTTGAATGTG	0.493000													45	16					0	0	0.014410	0	0
IVL	3713	broad.mit.edu	37	1	152882695	152882695	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152882695G>A	ENST00000368764.3	+	2	486	c.422G>A	c.(421-423)aGa>aAa	p.R141K	IVL_ENST00000392667.2_5'UTR			P07476	INVO_HUMAN	involucrin	141					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTAGTCAAGAGAGATGAGCAA	0.502000													16	33					0	0	0.003163	0	0
CCAR1	55749	broad.mit.edu	37	10	70509354	70509354	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:70509354C>T	ENST00000265872.6	+	10	1149	c.1030C>T	c.(1030-1032)Cca>Tca	p.P344S	CCAR1_ENST00000543719.1_Missense_Mutation_p.P329S|CCAR1_ENST00000535016.1_Missense_Mutation_p.P329S	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	344	Arg-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GGAAAGATCTCCACGAAGAGA	0.433000													16	23					0	0	0.003163	0	0
KCNQ3	3786	broad.mit.edu	37	8	133192419	133192419	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:133192419G>A	ENST00000388996.4	-	4	1182	c.762C>T	c.(760-762)atC>atT	p.I254I	KCNQ3_ENST00000521134.1_Silent_p.I134I|KCNQ3_ENST00000519445.1_Silent_p.I254I	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	254					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGTGGGCACAGATGGCTGAGC	0.597000													24	42					0	0	0.004656	0	0
DENND4A	10260	broad.mit.edu	37	15	65964189	65964189	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:65964189C>T	ENST00000443035.3	-	25	4617	c.4402G>A	c.(4402-4404)Gaa>Aaa	p.E1468K	DENND4A_ENST00000431932.2_Missense_Mutation_p.E1425K	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GATGTCACTTCTGATTTCCCA	0.348000													17	70					0	0	0.008871	0	0
CSF1R	1436	broad.mit.edu	37	5	149452973	149452973	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:149452973C>T	ENST00000286301.3	-	7	1264	c.973G>A	c.(973-975)Gtg>Atg	p.V325M	CSF1R_ENST00000543093.1_Intron	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	325	Ig-like C2-type 4.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TAGGCCTCCACCATGACTTTG	0.552000													34	93					0	0	0.003271	0	0
NTSR1	4923	broad.mit.edu	37	20	61391529	61391529	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:61391529G>A	ENST00000370501.3	+	4	1538	c.1167G>A	c.(1165-1167)agG>agA	p.R389R	NTSR1_ENST00000482259.1_3'UTR	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	389						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GGCGGCGCAGGAGGAAGAGGC	0.642000													15	62					0	0	0.002450	0	0
RBMXL1	494115	broad.mit.edu	37	1	89449212	89449212	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:89449212G>A	ENST00000399794.2	-	3	1013	c.298C>T	c.(298-300)Cca>Tca	p.P100S	CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.P100S|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000446900.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	100							nucleotide binding|RNA binding										CTACTTCTTGGAGGTGGGGGC	0.512000													33	64					0	0	0.012213	0	0
BCL9L	283149	broad.mit.edu	37	11	118769796	118769796	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:118769796G>A	ENST00000334801.3	-	8	4792	c.3828C>T	c.(3826-3828)ccC>ccT	p.P1276P	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1276	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGTGCTGCTGGGGAGGCATGG	0.716000													6	10					0	0	0.001984	0	0
SERPINA5	5104	broad.mit.edu	37	14	95054273	95054273	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:95054273G>A	ENST00000329597.7	+	3	784	c.574G>A	c.(574-576)Gat>Aat	p.D192N	SERPINA5_ENST00000554276.1_Missense_Mutation_p.D192N|SERPINA5_ENST00000554866.1_Missense_Mutation_p.D192N|SERPINA5_ENST00000553780.1_Missense_Mutation_p.D192N	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	192					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TAAGAACCTCGATAGCAATGC	0.463000													43	74					0	0	0.014410	0	0
PIGR	5284	broad.mit.edu	37	1	207112587	207112587	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:207112587C>T	ENST00000356495.4	-	3	448	c.265G>A	c.(265-267)Gag>Aag	p.E89K		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	89	Ig-like V-type 1.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GTGCCGTTCTCCGGGAAGTTG	0.587000													13	31					0	0	0.013537	0	0
KDM2A	22992	broad.mit.edu	37	11	66948824	66948824	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:66948824T>A	ENST00000529006.2	+	4	661	c.215T>A	c.(214-216)tTg>tAg	p.L72*	KDM2A_ENST00000398645.2_Nonsense_Mutation_p.L72*	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CGGGGTGGCTTGAGAGATCCT	0.373000													3	15					0	0	0.009096	0	0
GPR132	29933	broad.mit.edu	37	14	105517529	105517529	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:105517529G>A	ENST00000329797.3	-	4	1856	c.945C>T	c.(943-945)tcC>tcT	p.S315S	GPR132_ENST00000392585.2_Silent_p.S306S|GPR132_ENST00000539291.2_Silent_p.S315S	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	315					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		CTTCTTGGCGGGAATGGTCCG	0.577000													7	29					0	0	0.001984	0	0
KLF17	128209	broad.mit.edu	37	1	44595815	44595815	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:44595815G>A	ENST00000372299.3	+	2	930	c.872G>A	c.(871-873)gGa>gAa	p.G291E	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	291					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.G291E(1)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GAGAACTGCGGAAAAGCTTAT	0.577000													11	74					0	0	0.008291	0	0
RYR3	6263	broad.mit.edu	37	15	33954891	33954891	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:33954891C>T	ENST00000389232.4	+	35	5230	c.5160C>T	c.(5158-5160)ttC>ttT	p.F1720F	RYR3_ENST00000415757.3_Silent_p.F1720F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1720	4 X approximate repeats.				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)		CTGTGGAGTTCCAGTTTGTGC	0.562000													10	35					0	0	0.008291	0	0
MAP4	4134	broad.mit.edu	37	3	47950923	47950923	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:47950923G>A	ENST00000426837.2	-	10	5126	c.5039C>T	c.(5038-5040)cCa>cTa	p.P1680L	MAP4_ENST00000395734.3_Intron|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.P270L			P27816	MAP4_HUMAN	microtubule-associated protein 4	1037					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TTCACTTTTTGGAGACAAAAG	0.363000													29	130					0	0	0.007291	0	0
DDX43	55510	broad.mit.edu	37	6	74117797	74117797	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:74117797C>T	ENST00000370336.4	+	9	1310	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	DDX43_ENST00000479773.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	384	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TGAGTAACTTCGTCAATCTGA	0.408000													18	25					0	0	0.008871	0	0
ADAM23	8745	broad.mit.edu	37	2	207482369	207482369	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:207482369G>A	ENST00000374416.1	+	25	2478	c.2426G>A	c.(2425-2427)gGa>gAa	p.G809E	ADAM23_ENST00000374415.3_3'UTR|ADAM23_ENST00000264377.3_3'UTR			O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	0					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GCGCTGGATGGACACCGCCTT	0.458000													5	12					0	0	0.001168	0	0
SLC22A11	55867	broad.mit.edu	37	11	64326681	64326681	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:64326681C>T	ENST00000301891.4	+	2	842	c.468C>T	c.(466-468)ggC>ggT	p.G156G	SLC22A11_ENST00000377581.3_Silent_p.G156G|SLC22A11_ENST00000377585.3_Silent_p.G156G|SLC22A11_ENST00000490834.1_Intron	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	156					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	TCCTGGTGGGCTCCTTTATCT	0.602000													27	47					0	0	0.008361	0	0
KCNT2	343450	broad.mit.edu	37	1	196434428	196434428	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:196434428G>A	ENST00000451324.2	-	8	682	c.13C>T	c.(13-15)Cac>Tac	p.H5Y	KCNT2_ENST00000367433.5_Silent_p.F211F|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Silent_p.F211F|KCNT2_ENST00000367431.4_Silent_p.F211F			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	0						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						CTTACCAGGTGAAGATAAGGC	0.269000													26	54					0	0	0.007291	0	0
SULF1	23213	broad.mit.edu	37	8	70501326	70501326	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:70501326G>A	ENST00000260128.4	+	8	1401	c.684G>A	c.(682-684)gaG>gaA	p.E228E	SULF1_ENST00000419716.3_Silent_p.E228E|SULF1_ENST00000402687.4_Silent_p.E228E|SULF1_ENST00000458141.2_Silent_p.E228E	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	228					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ACGGCCCCGAGGACTCAGCCC	0.488000													7	22					0	0	0.003080	0	0
FCRL1	115350	broad.mit.edu	37	1	157768003	157768003	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:157768003G>A	ENST00000358292.3	-	7	996	c.945C>T	c.(943-945)ttC>ttT	p.F315F	FCRL1_ENST00000368176.3_Silent_p.F354F|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Silent_p.F354F	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	354						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGAGGTAGGTGAACTCTTGGG	0.498000													20	36					0	0	0.010504	0	0
TRIM55	84675	broad.mit.edu	37	8	67066357	67066357	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:67066357G>A	ENST00000315962.4	+	9	1685	c.1312G>A	c.(1312-1314)Gat>Aat	p.D438N	TRIM55_ENST00000353317.5_Intron|TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000276573.7_Missense_Mutation_p.D438N	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	438						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			AGAAACTGCGGATCCCTTGTT	0.537000													6	48					0	0	0.001984	0	0
GEMIN5	25929	broad.mit.edu	37	5	154282694	154282694	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:154282694G>A	ENST00000285873.7	-	19	2749	c.2674C>T	c.(2674-2676)Cat>Tat	p.H892Y		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	892					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGCCCCAGATGAAATCTTTCC	0.353000													9	42					0	0	0.010729	0	0
IVL	3713	broad.mit.edu	37	1	152883792	152883792	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152883792G>A	ENST00000368764.3	+	2	1583	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	IVL_ENST00000392667.2_Missense_Mutation_p.E361K			P07476	INVO_HUMAN	involucrin	507	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ggaacagcaggaaaagcacct	0.597000													3	3					0	0	0.004672	0	0
CERKL	375298	broad.mit.edu	37	2	182412563	182412563	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:182412563C>T	ENST00000410087.3	-	9	1245	c.1145G>A	c.(1144-1146)gGa>gAa	p.G382E	CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.G364E|CERKL_ENST00000374970.2_Missense_Mutation_p.G313E|CERKL_ENST00000339098.5_Missense_Mutation_p.G408E|CERKL_ENST00000374969.2_Missense_Mutation_p.G269E	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	408					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTTGGGAGATCCCTGTGCCCT	0.393000													33	99					0	0	0.004878	0	0
MAS1	4142	broad.mit.edu	37	6	160328632	160328632	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:160328632G>A	ENST00000252660.4	+	1	659	c.645G>A	c.(643-645)cgG>cgA	p.R215R		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 oncogene	215					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		TGAAGATCCGGAAGAACACGT	0.498000													16	35					0	0	0.003163	0	0
FMO3	2328	broad.mit.edu	37	1	171083156	171083156	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:171083156G>A	ENST00000367755.4	+	7	948	c.837G>A	c.(835-837)agG>agA	p.R279R	FMO3_ENST00000538429.1_Silent_p.R216R|FMO3_ENST00000542847.1_Silent_p.R259R|FMO3_ENST00000392085.2_Silent_p.R279R	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	279					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAGTCCTGAGGAAAGAGCCTG	0.398000													7	23					0	0	0.004482	0	0
CTNNA2	1496	broad.mit.edu	37	2	80816456	80816456	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:80816456G>A	ENST00000466387.1	+	19	2759	c.2035G>A	c.(2035-2037)Gag>Aag	p.E679K	CTNNA2_ENST00000496558.1_Missense_Mutation_p.E679K|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000540488.1_Missense_Mutation_p.E679K|CTNNA2_ENST00000343114.3_Missense_Mutation_p.E358K|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000402739.4_Missense_Mutation_p.E679K|CTNNA2_ENST00000361291.4_Missense_Mutation_p.E713K|CTNNA2_ENST00000541047.1_Missense_Mutation_p.E679K|AC008067.2_ENST00000430876.1_RNA			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	679					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						ACCGCAGGAGGAGAAGGCAAA	0.498000													15	12					0	0	0.002450	0	0
GNL2	29889	broad.mit.edu	37	1	38039990	38039990	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:38039990G>A	ENST00000373062.3	-	12	1468	c.1370C>T	c.(1369-1371)cCt>cTt	p.P457L		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	457					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				GACAAAGAAAGGAATCCGGCC	0.552000													5	30					0	0	0.001168	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166517	180166517	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:180166517G>A	ENST00000307832.2	-	1	582	c.542C>T	c.(541-543)cCt>cTt	p.P181L		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGAAATACAGGCATCTCACA	0.522000													10	20					0	0	0.010729	0	0
TLR4	7099	broad.mit.edu	37	9	120475051	120475051	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:120475051G>A	ENST00000355622.6	+	3	746	c.645G>A	c.(643-645)atG>atA	p.M215I	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.M175I	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	215					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGAACCCTATGAACTTTATCC	0.348000													14	39					0	0	0.001855	0	0
CAPN13	92291	broad.mit.edu	37	2	30976012	30976012	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:30976012C>T	ENST00000295055.8	-	10	1170	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	CAPN13_ENST00000534090.2_Missense_Mutation_p.E332K	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	332	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					ATTGGAATTTCGCTACATATA	0.423000													22	115					0	0	0.003954	0	0
ABCC8	6833	broad.mit.edu	37	11	17436059	17436059	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:17436059C>T	ENST00000302539.4	-	19	2518	c.2393_splice	c.e19+1	p.R798_splice	ABCC8_ENST00000389817.3_Splice_Site_p.R797_splice	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	797	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	p.R797L(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGGCTTTTACCGTTGTTTGTT	0.582000													48	260					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179534347	179534347	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179534347C>T	ENST00000589042.1	-	158	35666	c.35442G>A	c.(35440-35442)ctG>ctA	p.L11814L	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9937	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)			CAGGCTTTTTCAGAACAGCTT	0.328000													67	134					0	0	0.014410	0	0
CORIN	10699	broad.mit.edu	37	4	47647188	47647188	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:47647188C>T	ENST00000273857.4	-	14	1866	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K	CORIN_ENST00000505909.1_Missense_Mutation_p.E586K|CORIN_ENST00000504584.1_Missense_Mutation_p.E586K|CORIN_ENST00000502252.1_Missense_Mutation_p.E556K|CORIN_ENST00000508498.1_Missense_Mutation_p.E484K	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	623	LDL-receptor class A 6.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GATGGACATTCCCAAAGATCT	0.373000													27	36					0	0	0.007291	0	0
MUC4	4585	broad.mit.edu	37	3	195505259	195505259	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:195505259G>A	ENST00000463781.3	-	3	13317	c.12858C>T	c.(12856-12858)acC>acT	p.T4286T	MUC4_ENST00000346145.4_Silent_p.T50T|MUC4_ENST00000475231.1_Silent_p.T4286T|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1043					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGTCTGGGAGGTTGTGGGGG	0.592000													18	37					0	0	0.007413	0	0
ITGAX	3687	broad.mit.edu	37	16	31367283	31367283	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:31367283G>A	ENST00000268296.4	+	2	228	c.107G>A	c.(106-108)gGg>gAg	p.G36E	ITGAX_ENST00000562522.1_Missense_Mutation_p.G36E|ITGAX_ENST00000562918.1_3'UTR	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	36					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GACAGCGCTGGGTTTGGAGAC	0.587000													21	77					0	0	0.002780	0	0
DNAH5	1767	broad.mit.edu	37	5	13793832	13793832	+	Silent	SNP	C	C	T	rs112594597		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:13793832C>T	ENST00000265104.4	-	49	8120	c.8016G>A	c.(8014-8016)acG>acA	p.T2672T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2672	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTATCTCATTCGTAACCTACA	0.423000									Kartagener syndrome				10	39					0	0	0.008291	0	0
KRT83	3889	broad.mit.edu	37	12	52708473	52708473	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:52708473G>A	ENST00000293670.3	-	9	1486	c.1424C>T	c.(1423-1425)cCc>cTc	p.P475L		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	475	Tail.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGGCCACAGGGCTTGCACAA	0.672000													3	4					0	0	0.004672	0	0
SCN11A	11280	broad.mit.edu	37	3	38961481	38961481	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:38961481C>T	ENST00000450244.1	-	7	1102	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	SCN11A_ENST00000302328.3_Missense_Mutation_p.E302K|SCN11A_ENST00000444237.2_Missense_Mutation_p.E302K|SCN11A_ENST00000456224.3_Missense_Mutation_p.E302K			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	302					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCTTTCTTTTCAAAGCAATGG	0.333000													15	36					0	0	0.004990	0	0
PRR23B	389151	broad.mit.edu	37	3	138739116	138739116	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:138739116C>T	ENST00000329447.5	-	1	652	c.388G>A	c.(388-390)Gct>Act	p.A130T	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	130										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCCTGACAGCGCCCAGGAAA	0.642000													13	32					0	0	0.001855	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102478443	102478443	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:102478443C>T	ENST00000360184.4	+	33	7014	c.6850C>T	c.(6850-6852)Ctg>Ttg	p.L2284L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2284	AAA 2 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CACACACGTGCTGAGAAAGTA	0.498000													13	61					0	0	0.004990	0	0
PRKG1	5592	broad.mit.edu	37	10	54040660	54040660	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:54040660C>T	ENST00000373980.4	+	13	1932	c.1515C>T	c.(1513-1515)ctC>ctT	p.L505L	PRKG1-AS1_ENST00000452247.2_RNA|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373985.1_Silent_p.L478L|PRKG1_ENST00000373975.2_Silent_p.L208L|PRKG1_ENST00000401604.2_Silent_p.L490L	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	490	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CAGAAAATCTCATCCTAGATC	0.388000													11	29					0	0	0.002450	0	0
MEFV	4210	broad.mit.edu	37	16	3293195	3293195	+	Silent	SNP	C	C	T	rs142352887	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:3293195C>T	ENST00000219596.1	-	10	2331	c.2292G>A	c.(2290-2292)ggG>ggA	p.G764G	MEFV_ENST00000536379.1_Silent_p.G553G|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Silent_p.G584G	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	764	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CTGTGTTCTTCCCTCCATCAC	0.527000													13	34					0	0	0.001855	0	0
TIAM1	7074	broad.mit.edu	37	21	32496913	32496913	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:32496913G>A	ENST00000286827.3	-	28	4704	c.4233C>T	c.(4231-4233)tcC>tcT	p.S1411S	TIAM1_ENST00000541036.1_Silent_p.S1351S	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1411					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CATATTGCTGGGATGAGGGAA	0.542000													18	20					0	0	0.007413	0	0
KRT38	8687	broad.mit.edu	37	17	39595036	39595036	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:39595036C>T	ENST00000246646.3	-	4	806	c.807G>A	c.(805-807)ctG>ctA	p.L269L		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	269	Coil 2.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GCACCCTGTTCAGGTCAATGG	0.582000													53	35					0	0	0.014410	0	0
CERS2	29956	broad.mit.edu	37	1	150936860	150936860	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:150936860C>T	ENST00000561294.1	-	10	1088	c.1067G>A	c.(1066-1068)gGt>gAt	p.G356D	SETDB1_ENST00000271640.5_3'UTR|SETDB1_ENST00000368969.4_3'UTR			Q96G23	CERS2_HUMAN	ceramide synthase 2	0						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TTCTTCCCAACCCTTCTTGAA	0.532000													4	10					0	0	0.009096	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171766262	171766262	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:171766262G>A	ENST00000311601.5	-	13	2017	c.1847C>T	c.(1846-1848)tCc>tTc	p.S616F	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	616					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTTGGATTTGGAGATGGGCCG	0.537000													18	33					0	0	0.006122	0	0
CYP4F3	4051	broad.mit.edu	37	19	15770121	15770121	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15770121G>A	ENST00000221307.7	+	13	1537	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K	CYP4F3_ENST00000591058.1_Missense_Mutation_p.E497K|CYP4F3_ENST00000585846.1_Missense_Mutation_p.E497K|CYP4F3_ENST00000586182.1_Missense_Mutation_p.E497K	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	497					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGACCACACCGAGCCCCGCAG	0.682000													8	14					0	0	0.004482	0	0
CPED1	79974	broad.mit.edu	37	7	120740016	120740016	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:120740016C>T	ENST00000310396.5	+	7	1253	c.786C>T	c.(784-786)atC>atT	p.I262I	CPED1_ENST00000423795.1_Silent_p.I42I|CPED1_ENST00000450913.2_Silent_p.I262I	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		ATGAAACAATCTTTCGAGCCG	0.393000													10	18					0	0	0.013537	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37490169	37490169	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:37490169C>T	ENST00000374660.1	+	37	3073	c.2974C>T	c.(2974-2976)Cgt>Tgt	p.R992C	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.R873C|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.R873C			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1023						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACAGAGTCTCCGTGAGACTGT	0.274000													7	43					0	0	0.010729	0	0
ABCC9	10060	broad.mit.edu	37	12	21970222	21970222	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:21970222C>T	ENST00000261200.4	-	31	3790	c.3791G>A	c.(3790-3792)tGg>tAg	p.W1264*	ABCC9_ENST00000345162.2_Nonsense_Mutation_p.W1228*|ABCC9_ENST00000261201.4_Nonsense_Mutation_p.W1264*	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1264	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCTCACAACCCAATTCAAATA	0.388000													56	33					0	0	0.014410	0	0
CACNG1	786	broad.mit.edu	37	17	65050168	65050168	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:65050168G>A	ENST00000226021.3	+	2	357	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	96					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	GGAGATCTTCGAATTCACCAC	0.542000													50	25					0	0	0.014410	0	0
MXRA5	25878	broad.mit.edu	37	X	3240208	3240208	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:3240208G>A	ENST00000217939.6	-	5	3672	c.3518C>T	c.(3517-3519)aCt>aTt	p.T1173I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1173						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGGGGCAAAAGTTGTGGGTGG	0.507000													51	29					0	0	0.014410	0	0
ABCC3	8714	broad.mit.edu	37	17	48735493	48735493	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:48735493C>T	ENST00000285238.8	+	5	617	c.537C>T	c.(535-537)gcC>gcT	p.A179A	ABCC3_ENST00000427699.1_Silent_p.A179A	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	179					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TCCACTTTGCCCTGGTACTCT	0.572000													51	32					0	0	0.014410	0	0
SELP	6403	broad.mit.edu	37	1	169586518	169586518	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:169586518C>T	ENST00000263686.6	-	3	266	c.229G>A	c.(229-231)Gat>Aat	p.D77N	SELP_ENST00000367786.2_Missense_Mutation_p.D77N|SELP_ENST00000367792.2_Missense_Mutation_p.D77N|SELP_ENST00000367791.2_Missense_Mutation_p.D77N|SELP_ENST00000367788.2_Missense_Mutation_p.D77N|SELP_ENST00000367794.2_Missense_Mutation_p.D77N|SELP_ENST00000458599.2_Missense_Mutation_p.D77N|SELP_ENST00000367793.2_Missense_Mutation_p.D77N	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	77	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TTGAGGTAATCAATTTCATTT	0.408000													33	105					0	0	0.003755	0	0
EPB41L2	2037	broad.mit.edu	37	6	131247777	131247777	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:131247777C>T	ENST00000337057.3	-	4	959	c.778G>A	c.(778-780)Gga>Aga	p.G260R	EPB41L2_ENST00000525271.1_Missense_Mutation_p.G260R|EPB41L2_ENST00000368128.2_Missense_Mutation_p.G260R|EPB41L2_ENST00000525193.1_Missense_Mutation_p.G260R|EPB41L2_ENST00000530481.1_Missense_Mutation_p.G260R|EPB41L2_ENST00000445890.2_Missense_Mutation_p.G260R|EPB41L2_ENST00000527659.1_Missense_Mutation_p.G260R|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000392427.3_Missense_Mutation_p.G260R|EPB41L2_ENST00000528282.1_Missense_Mutation_p.G260R|EPB41L2_ENST00000527411.1_Missense_Mutation_p.G260R|EPB41L2_ENST00000529208.1_Missense_Mutation_p.G260R	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	260	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		AACAAAAGTCCAAAGTAGTCT	0.308000													22	76					0	0	0.003954	0	0
PCSK9	255738	broad.mit.edu	37	1	55512300	55512300	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:55512300G>A	ENST00000302118.5	+	3	794	c.504G>A	c.(502-504)gcG>gcA	p.A168A	PCSK9_ENST00000543384.1_Intron|PCSK9_ENST00000452118.2_Silent_p.A168A	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	168	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GGTACCGGGCGGATGAATACC	0.617000													87	181					0	0	0.014410	0	0
OTOL1	131149	broad.mit.edu	37	3	161221691	161221691	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:161221691C>T	ENST00000327928.4	+	4	1395	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	465	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TTACTGGGTTCCTTTTGTACC	0.408000													9	23					0	0	0.008291	0	0
S100PBP	64766	broad.mit.edu	37	1	33321617	33321617	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:33321617T>G	ENST00000373475.5	+	7	1459	c.1205T>G	c.(1204-1206)cTc>cGc	p.L402R	S100PBP_ENST00000373476.1_Missense_Mutation_p.L402R	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	402						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TTCCAGCGTCTCCCAGACTTC	0.493000													13	31					0	0	0.002450	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136321	40136321	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:40136321G>A	ENST00000278198.2	-	2	3485	c.1522C>T	c.(1522-1524)Cca>Tca	p.P508S	LRRC4C_ENST00000527150.1_Missense_Mutation_p.P508S|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P508S|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P508S			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	508					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)				TCAGTCACTGGGATGGTGAAG	0.502000													15	50					0	0	0.004990	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55378900	55378900	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:55378900C>T	ENST00000398661.2	-	6	709	c.578G>A	c.(577-579)gGa>gAa	p.G193E	HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000428842.1_Missense_Mutation_p.G131E|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.G131E|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.G163E	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	193							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTCAAATTTTCCCATACTTTC	0.368000													12	41					0	0	0.013537	0	0
GRIK3	2899	broad.mit.edu	37	1	37270698	37270698	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:37270698G>A	ENST00000373091.3	-	15	2471	c.2455C>T	c.(2455-2457)Cag>Tag	p.Q819*	GRIK3_ENST00000373093.4_Nonsense_Mutation_p.Q819*	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	819					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CCGATCTTCTGGATCCCCAGG	0.597000													18	78					0	0	0.012319	0	0
EBF2	64641	broad.mit.edu	37	8	25747281	25747281	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:25747281G>A	ENST00000520164.1	-	8	1275	c.738C>T	c.(736-738)ctC>ctT	p.L246L	EBF2_ENST00000408929.3_Silent_p.L98L	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	246					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CCGATGGATCGAGTCTTCTTG	0.463000													17	33					0	0	0.012319	0	0
LGALS9B	284194	broad.mit.edu	37	17	20361571	20361571	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:20361571C>G	ENST00000423676.3	-	3	321	c.258G>C	c.(256-258)gaG>gaC	p.E86D	LGALS9B_ENST00000324290.5_Missense_Mutation_p.E86D			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	86	Beta-galactoside binding 1 (By similarity).|Galectin 1.						sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						GCATCTTCCTCTCCTCGGGCC	0.552000													28	83					0	0	0.008361	0	0
LRRK2	120892	broad.mit.edu	37	12	40716175	40716175	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:40716175G>A	ENST00000298910.7	+	37	5430	c.5372G>A	c.(5371-5373)tGg>tAg	p.W1791*		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1791					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATGGAAGAATGGTTTCCTGGG	0.388000													51	82					0	0	0.014410	0	0
TECTA	7007	broad.mit.edu	37	11	121061511	121061511	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:121061511C>T	ENST00000392793.1	+	24	6735	c.6464C>T	c.(6463-6465)tCa>tTa	p.S2155L	TECTA_ENST00000264037.2_Missense_Mutation_p.S2155L			O75443	TECTA_HUMAN	tectorin alpha	2155					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGCACGACCTCATAATTAACT	0.358000													5	15					0	0	0.000602	0	0
OR5M10	390167	broad.mit.edu	37	11	56344834	56344834	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:56344834G>A	ENST00000526812.2	-	1	429	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GCTACATAGCGATCCAATGCC	0.453000													12	48					0	0	0.010729	0	0
FREM1	158326	broad.mit.edu	37	9	14819263	14819263	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:14819263A>T	ENST00000380881.4	-	15	3333	c.2518T>A	c.(2518-2520)Tct>Act	p.S840T	FREM1_ENST00000380880.3_Missense_Mutation_p.S839T|FREM1_ENST00000422223.2_Missense_Mutation_p.S839T			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	839					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.S840fs*8(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCGCCCCAAGAAAATGTGCCC	0.428000													10	23					0	0	0.010729	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6528454	6528454	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:6528454G>A	ENST00000377748.1	-	21	3170	c.2673C>T	c.(2671-2673)tcC>tcT	p.S891S	PLEKHG5_ENST00000377732.1_Silent_p.S851S|PLEKHG5_ENST00000535355.1_Silent_p.S883S|PLEKHG5_ENST00000377737.2_Silent_p.S814S|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000400915.3_Silent_p.S870S|PLEKHG5_ENST00000377725.1_Silent_p.S814S|PLEKHG5_ENST00000400913.1_Silent_p.S814S|PLEKHG5_ENST00000340850.5_Silent_p.S814S|PLEKHG5_ENST00000377728.3_Silent_p.S814S|PLEKHG5_ENST00000537245.1_Silent_p.S893S|PLEKHG5_ENST00000544978.1_Silent_p.S814S	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	870					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CAGAGTCCATGGAGCAGGAGC	0.652000													5	8					0	0	0.001168	0	0
ENPP3	5169	broad.mit.edu	37	6	131973691	131973691	+	Nonsense_Mutation	SNP	G	G	A	rs150884645	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:131973691G>A	ENST00000414305.1	+	5	615	c.287G>A	c.(286-288)tGg>tAg	p.W96*	ENPP3_ENST00000427148.2_Nonsense_Mutation_p.W62*|ENPP3_ENST00000357639.3_Nonsense_Mutation_p.W96*|ENPP3_ENST00000358229.5_Nonsense_Mutation_p.W96*|ENPP3_ENST00000543135.1_Nonsense_Mutation_p.W62*|ENPP3_ENST00000470930.1_3'UTR			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	96	SMB 2.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GCTCGAATATGGATGTGCAAT	0.353000													22	62					0	0	0.004656	0	0
LEPREL1	55214	broad.mit.edu	37	3	189691731	189691731	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:189691731C>T	ENST00000319332.5	-	10	1712	c.1515G>A	c.(1513-1515)aaG>aaA	p.K505K	LEPREL1_ENST00000427335.2_Silent_p.K324K	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	505					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CACCTTCAAACTTTTCATTGG	0.403000													64	116					0	0	0.014410	0	0
OMP	4975	broad.mit.edu	37	11	76813933	76813933	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:76813933C>T	ENST00000529803.1	+	1	48	c.48C>T	c.(46-48)gtC>gtT	p.V16V	CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	16					sensory perception of smell|synaptic transmission					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TGCCGCTGGTCCTGGACCAGG	0.692000													11	9					0	0	0.010729	0	0
FMNL2	114793	broad.mit.edu	37	2	153475652	153475652	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:153475652C>T	ENST00000288670.9	+	14	1974	c.1607C>T	c.(1606-1608)tCa>tTa	p.S536L		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	536	Pro-rich.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CTGCCTCCCTCATCAGACACA	0.532000													6	19					0	0	0.001984	0	0
CD1B	910	broad.mit.edu	37	1	158300776	158300776	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158300776G>A	ENST00000368168.3	-	2	245	c.138C>T	c.(136-138)ggC>ggT	p.G46G		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	46					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ACCAGCCTGAGCCTTGAGTTT	0.488000													96	164					0	0	0.014410	0	0
ADAM28	10863	broad.mit.edu	37	8	24193068	24193068	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:24193068G>A	ENST00000265769.4	+	14	1591	c.1481G>A	c.(1480-1482)gGc>gAc	p.G494D	RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.G241D|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.G494D|ADAM28_ENST00000540823.1_Missense_Mutation_p.G261D|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	494	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.G494V(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CAAGTCAATGGCTTCCCTTGC	0.527000													8	16					0	0	0.003080	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24251645	24251645	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:24251645G>A	ENST00000538205.1	+	5	658	c.111G>A	c.(109-111)acG>acA	p.T37T	RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Silent_p.T116T|ADAMDEC1_ENST00000522298.1_Silent_p.T37T|RP11-624C23.1_ENST00000519689.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	116					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AAATTACCACGAAACCTGAGA	0.458000													17	16					0	0	0.007413	0	0
ZNF831	128611	broad.mit.edu	37	20	57766169	57766169	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:57766169C>T	ENST00000371030.2	+	1	95	c.95C>T	c.(94-96)tCa>tTa	p.S32L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	32	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGCCAGGCCTCACCTCACCTG	0.697000													6	42					0	0	0.001168	0	0
TRPV6	55503	broad.mit.edu	37	7	142572682	142572682	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142572682G>A	ENST00000359396.3	-	10	1506	c.1261C>T	c.(1261-1263)Ctt>Ttt	p.L421F		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	421					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GGGCCCCCAAGGATGGTCTGT	0.542000													22	63					0	0	0.003330	0	0
ABCC6P1	653190	broad.mit.edu	37	16	18602603	18602603	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:18602603C>T	ENST00000546162.2	+	0	1177					NR_003569.1																						GTGATGTCTTCAGGTTCACTG	0.592000													27	57					0	0	0.004289	0	0
TAF1L	138474	broad.mit.edu	37	9	32630258	32630258	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:32630258C>T	ENST00000242310.4	-	1	5409	c.5320G>A	c.(5320-5322)Gaa>Aaa	p.E1774K		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1774					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.E1774*(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCAGCATCTTCCTCATCATCT	0.453000													22	67					0	0	0.002780	0	0
AUTS2	26053	broad.mit.edu	37	7	70231204	70231204	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:70231204C>T	ENST00000342771.4	+	9	1894	c.1573C>T	c.(1573-1575)Cat>Tat	p.H525Y	AUTS2_ENST00000406775.2_Missense_Mutation_p.H525Y	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	525	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GACCGAGTTCCATcagcacca	0.637000													21	39					0	0	0.010504	0	0
AMPD1	270	broad.mit.edu	37	1	115220031	115220031	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:115220031G>A	ENST00000369538.3	-	9	1463	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F	AMPD1_ENST00000520113.2_Silent_p.F476F|AMPD1_ENST00000353928.6_Silent_p.F443F	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	443					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.F476L(1)|p.F443L(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GATTGCAGACGAACCAGGAGG	0.562000													12	72					0	0	0.010729	0	0
BEND2	139105	broad.mit.edu	37	X	18192217	18192217	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:18192217A>T	ENST00000380033.4	-	12	2046	c.1914T>A	c.(1912-1914)agT>agA	p.S638R	BEND2_ENST00000380030.3_Missense_Mutation_p.S547R	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	638										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GGATAGCATTACTGTTTGGCT	0.408000													11	21					0	0	0.013537	0	0
HAPLN1	1404	broad.mit.edu	37	5	82940236	82940236	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:82940236A>G	ENST00000274341.4	-	4	1571	c.721T>C	c.(721-723)Tgg>Cgg	p.W241R		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	241	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		TCTTTATCCCAAAATCCGTAG	0.448000													8	31					0	0	0.004482	0	0
LY6G6D	58530	broad.mit.edu	37	6	31675540	31675540	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:31675540G>A	ENST00000503322.1	+	2	361	c.358G>A	c.(358-360)Gtg>Atg	p.V120M	XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000556581.1_Missense_Mutation_p.V120M|LY6G6F_ENST00000375832.4_Missense_Mutation_p.V120M																							GAACTGGAGGGTGTACGACGT	0.572000													101	187					0	0	0.014410	0	0
ASTN1	460	broad.mit.edu	37	1	177030393	177030393	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:177030393C>T	ENST00000367654.2	-	2	305	c.292G>A	c.(292-294)Ggg>Agg	p.G98R	ASTN1_ENST00000424564.2_Missense_Mutation_p.G98R|ASTN1_ENST00000367657.3_Missense_Mutation_p.G98R|ASTN1_ENST00000361833.2_Missense_Mutation_p.G98R|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	98					cell migration|neuron cell-cell adhesion	integral to membrane		p.G98R(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCTGTGTTCCCTGAGATCTCT	0.483000													35	60					0	0	0.004289	0	0
IGHV2-26	28455	broad.mit.edu	37	14	106757818	106757818	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:106757818C>T	ENST00000390611.2	-	0	212																											CCAGGGCCTTCCCTGGGGGCT	0.537000													21	22					0	0	0.003330	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151152940	151152940	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:151152940C>T	ENST00000367328.1	+	16	3005	c.2693C>T	c.(2692-2694)gCt>gTt	p.A898V	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.A898V	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	898					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GAGAGCCAGGCTCTCCTCACG	0.617000													33	35					0	0	0.010818	0	0
INADL	10207	broad.mit.edu	37	1	62349956	62349956	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:62349956C>T	ENST00000371158.2	+	22	3121	c.3007C>T	c.(3007-3009)Cct>Tct	p.P1003S	INADL_ENST00000316485.6_Missense_Mutation_p.P1003S	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1003					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CATTGACCTTCCTGTTGTGGC	0.463000													45	108					0	0	0.011902	0	0
PROM2	150696	broad.mit.edu	37	2	95943211	95943211	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:95943211G>A	ENST00000317620.9	+	7	1005	c.872G>A	c.(871-873)cGg>cAg	p.R291Q	PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000403131.2_Missense_Mutation_p.R291Q|PROM2_ENST00000317668.4_Missense_Mutation_p.R291Q|PROM2_ENST00000542147.1_Missense_Mutation_p.R291Q	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	291						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CGGGAACACCGGGACCGCCTC	0.662000													8	18					0	0	0.008291	0	0
IGSF21	84966	broad.mit.edu	37	1	18618479	18618479	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:18618479G>A	ENST00000251296.1	+	3	686	c.303G>A	c.(301-303)gtG>gtA	p.V101V		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	101	Ig-like 1.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		AGTCCACTGTGAGGTGAGTGC	0.597000													39	81					0	0	0.014410	0	0
HLTF	6596	broad.mit.edu	37	3	148756981	148756981	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:148756981G>A	ENST00000310053.5	-	23	2844	c.2651C>T	c.(2650-2652)tCc>tTc	p.S884F	HLTF_ENST00000392912.2_Missense_Mutation_p.S884F|HLTF_ENST00000494055.1_Missense_Mutation_p.S884F|HLTF_ENST00000465259.1_Missense_Mutation_p.S883F	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	884	Helicase C-terminal.				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)			TTGGGCCATGGAACCATCCAA	0.363000													9	15					0	0	0.010729	0	0
PLCH2	9651	broad.mit.edu	37	1	2421228	2421228	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:2421228G>A	ENST00000449969.1	+	10	1517	c.1356G>A	c.(1354-1356)gaG>gaA	p.E452E	PLCH2_ENST00000378486.3_Silent_p.E479E|PLCH2_ENST00000378488.3_Silent_p.E479E|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000419816.2_Silent_p.E479E|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	479	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		ACATCAGCGAGGATGCGGAGG	0.592000													29	53					0	0	0.003271	0	0
DNAH9	1770	broad.mit.edu	37	17	11592949	11592949	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:11592949C>T	ENST00000262442.3	+	20	3878	c.3810C>T	c.(3808-3810)tcC>tcT	p.S1270S	DNAH9_ENST00000454412.2_Silent_p.S1270S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1270	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S1270*(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGATGGAATCCACTATGGCCT	0.488000													35	26					0	0	0.003755	0	0
CSMD2	114784	broad.mit.edu	37	1	34008417	34008417	+	Silent	SNP	G	G	A	rs138523089	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:34008417G>A	ENST00000373381.4	-	58	9356	c.9180C>T	c.(9178-9180)atC>atT	p.I3060I		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3034	Sushi 23.					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)				ACTCATAGACGATAGAGCTGG	0.542000													19	30					0	0	0.012319	0	0
XIST	7503	broad.mit.edu	37	X	73072049	73072049	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:73072049G>A	ENST00000429829.1	-	0	539					NR_001564.2																						GGTTCAGAGGGGAAGGGAATC	0.463000													5	1					0	0	0.000602	0	0
KLHL13	90293	broad.mit.edu	37	X	117043960	117043960	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:117043960G>A	ENST00000371876.1	-	4	2938	c.517C>T	c.(517-519)Cct>Tct	p.P173S	KLHL13_ENST00000545703.1_Missense_Mutation_p.P182S|KLHL13_ENST00000262820.3_Missense_Mutation_p.P224S|KLHL13_ENST00000541812.1_Missense_Mutation_p.P208S|KLHL13_ENST00000539496.1_Missense_Mutation_p.P227S|KLHL13_ENST00000540167.1_Missense_Mutation_p.P208S|KLHL13_ENST00000469946.1_Missense_Mutation_p.P173S|KLHL13_ENST00000371882.1_Missense_Mutation_p.P173S|KLHL13_ENST00000371878.1_Missense_Mutation_p.P173S			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	224					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGCAATGCAGGAAAATTCTTC	0.438000													39	16					0	0	0.006230	0	0
FSIP1	161835	broad.mit.edu	37	15	40018827	40018827	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:40018827G>A	ENST00000350221.3	-	9	1222	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	338										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		AGAAAAACTGGAAATTGTAGG	0.393000													9	29					0	0	0.008291	0	0
TRRAP	8295	broad.mit.edu	37	7	98509658	98509658	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:98509658C>T	ENST00000359863.4	+	18	2230	c.2021C>T	c.(2020-2022)tCc>tTc	p.S674F	TRRAP_ENST00000446306.3_Missense_Mutation_p.S673F|TRRAP_ENST00000355540.3_Missense_Mutation_p.S674F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	674					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTTGCCAATTCCTTCTTGGCA	0.413000													31	80					0	0	0.003271	0	0
CYB5R2	51700	broad.mit.edu	37	11	7686720	7686720	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:7686720G>A	ENST00000533558.1	-	9	1272	c.716C>T	c.(715-717)cCt>cTt	p.P239L	CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000299498.6_Missense_Mutation_p.P239L|CYB5R2_ENST00000524790.1_3'UTR			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	239					sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTTCGCTGGAGGAGGAAGGTG	0.572000											OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	25					0	0	0.003080	0	0
HYDIN	54768	broad.mit.edu	37	16	70926315	70926315	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:70926315G>A	ENST00000393567.2	-	56	9516	c.9366C>T	c.(9364-9366)ttC>ttT	p.F3122F		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3122										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTTTGCATGGAAGAAAACTT	0.463000													11	69					0	0	0.001855	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220386237	220386237	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:220386237G>A	ENST00000358951.2	-	4	494	c.378C>T	c.(376-378)gtC>gtT	p.V126V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	126					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		ACCCTTCTTCGACATTTAAGG	0.308000													10	24					0	0	0.013537	0	0
SLC38A5	92745	broad.mit.edu	37	X	48320627	48320627	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:48320627G>A	ENST00000376876.3	-	9	1468	c.625C>T	c.(625-627)Ctt>Ttt	p.L209F	SLC38A5_ENST00000376875.1_Missense_Mutation_p.L158F|SLC38A5_ENST00000317669.5_Missense_Mutation_p.L209F			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	209					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						ACCGAAACAAGGAAAAACAGC	0.552000													3	11					0	0	0.004672	0	0
PCSK1	5122	broad.mit.edu	37	5	95733144	95733144	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:95733144C>T	ENST00000311106.3	-	12	1855	c.1618G>A	c.(1618-1620)Gaa>Aaa	p.E540K	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Missense_Mutation_p.E493K	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	540					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)	GTATCCCGTTCTCTTTCAGCC	0.398000													4	19					0	0	0.000602	0	0
FREM1	158326	broad.mit.edu	37	9	14801703	14801703	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:14801703G>A	ENST00000380881.4	-	21	4459	c.3644C>T	c.(3643-3645)cCt>cTt	p.P1215L	FREM1_ENST00000380880.3_Missense_Mutation_p.P1214L|FREM1_ENST00000422223.2_Missense_Mutation_p.P1214L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1214					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTTCTGGTGAGGGTTGGCTGG	0.468000													18	17					0	0	0.006122	0	0
ACAA2	10449	broad.mit.edu	37	18	47323960	47323960	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:47323960G>A	ENST00000285093.10	-	3	663	c.188C>T	c.(187-189)tCt>tTt	p.S63F	RP11-886H22.1_ENST00000590532.2_3'UTR|ACAA2_ENST00000589432.1_Missense_Mutation_p.S8F|ACAA2_ENST00000587994.1_Missense_Mutation_p.S60F	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	63					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						AGCATCTGAAGAACTCTAGAA	0.373000													8	16					0	0	0.003080	0	0
AADACL2	344752	broad.mit.edu	37	3	151474789	151474789	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:151474789G>A	ENST00000356517.3	+	5	722	c.613G>A	c.(613-615)Gat>Aat	p.D205N	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	205						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GGTGCAGAATGATGCTGAAAT	0.318000													10	40					0	0	0.010729	0	0
OR2T3	343173	broad.mit.edu	37	1	248637008	248637008	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248637008C>T	ENST00000359594.2	+	1	382	c.357C>T	c.(355-357)ctC>ctT	p.L119L		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGTTTTCCTCCTGGCTGCCA	0.562000													6	20					0	0	0.002450	0	0
LYZL6	57151	broad.mit.edu	37	17	34264881	34264881	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:34264881G>A	ENST00000585556.1	-	3	513	c.179C>T	c.(178-180)tCa>tTa	p.S60L	LYZL6_ENST00000293274.4_Missense_Mutation_p.S60L|LYZL6_ENST00000394523.3_Missense_Mutation_p.S60L			O75951	LYZL6_HUMAN	lysozyme-like 6	60					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATTTATCTTTGATATGTTGAA	0.443000													39	18					0	0	0.006999	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76877777	76877777	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:76877777C>T	ENST00000328299.3	+	3	446	c.298C>T	c.(298-300)Cga>Tga	p.R100*	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	100					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TGAGATAGATCGATCCTCCTG	0.473000													29	41					0	0	0.007291	0	0
VPS13D	55187	broad.mit.edu	37	1	12328876	12328876	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:12328876C>T	ENST00000358136.3	+	16	2045	c.1915C>T	c.(1915-1917)Ccg>Tcg	p.P639S	VPS13D_ENST00000356315.4_Missense_Mutation_p.P639S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	639					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CATATACAATCCGCAGGCCAT	0.423000													41	86					0	0	0.007835	0	0
ROR1	4919	broad.mit.edu	37	1	64643822	64643822	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:64643822G>T	ENST00000371079.1	+	9	2473	c.2098G>T	c.(2098-2100)Gaa>Taa	p.E700*	ROR1_ENST00000545203.1_Nonsense_Mutation_p.E151*	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	700	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CAGTAACCAGGAAGTGATTGA	0.458000													25	69					2.79863e-10	3.05953e-10	0.004656	1	0
TDRD6	221400	broad.mit.edu	37	6	46657718	46657718	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:46657718C>T	ENST00000544460.1	+	1	2107	c.1853C>T	c.(1852-1854)tCc>tTc	p.S618F	TDRD6_ENST00000316081.6_Missense_Mutation_p.S618F	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	618					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GAGGCAGTTTCCTTTTTTAAA	0.403000													7	28					0	0	0.001984	0	0
RPUSD2	27079	broad.mit.edu	37	15	40866035	40866035	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:40866035C>T	ENST00000315616.7	+	3	1251	c.1213C>T	c.(1213-1215)Ccc>Tcc	p.P405S	RPUSD2_ENST00000559271.1_Missense_Mutation_p.P344S	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	405					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		CGGCTACATTCCCAAGACAAA	0.577000													8	38					0	0	0.003080	0	0
C7	730	broad.mit.edu	37	5	40955533	40955533	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:40955533G>A	ENST00000313164.9	+	10	1497	c.1138G>A	c.(1138-1140)Gga>Aga	p.G380R		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	380	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CATCAGAGGGGGAGGTGCAGG	0.423000													29	73					0	0	0.003755	0	0
ZAN	7455	broad.mit.edu	37	7	100349948	100349948	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100349948C>T	ENST00000542585.1	+	0	2368				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AACCCACCACCCCCACAGAAA	0.517000													8	30					0	0	0.003080	0	0
PRSS8	5652	broad.mit.edu	37	16	31143543	31143543	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:31143543C>T	ENST00000317508.6	-	6	1082	c.819G>A	c.(817-819)ctG>ctA	p.L273L	PRSS8_ENST00000568261.1_Silent_p.L219L	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	273	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						AGCTGGAGGCCAGAGTGTACA	0.627000													7	14					0	0	0.004482	0	0
EXTL3	2137	broad.mit.edu	37	8	28574866	28574866	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:28574866C>T	ENST00000220562.4	+	3	2192	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Silent_p.F46F	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	430						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TCTCCACCTTCGCCCTCATCA	0.602000													9	22					0	0	0.004482	0	0
KIF15	56992	broad.mit.edu	37	3	44852408	44852408	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:44852408G>A	ENST00000326047.4	+	17	2191	c.2042G>A	c.(2041-2043)gGa>gAa	p.G681E	KIF15_ENST00000425755.1_Missense_Mutation_p.G316E	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	681					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		CCTGAAATGGGAAGCTTTGGC	0.383000													28	39					0	0	0.005443	0	0
PRKCG	5582	broad.mit.edu	37	19	54403501	54403501	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:54403501C>T	ENST00000263431.3	+	12	1578	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	PRKCG_ENST00000540413.1_Silent_p.F432F|PRKCG_ENST00000542049.1_Silent_p.F319F	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	432	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GCCTGTATTTCGTGATGGAGT	0.537000													20	31					0	0	0.003330	0	0
DPRX	503834	broad.mit.edu	37	19	54140241	54140241	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:54140241G>A	ENST00000376650.1	+	3	626	c.575G>A	c.(574-576)tGa>tAa	p.*192*		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CGAGAGAGATGATAAATACAA	0.443000													32	61					0	0	0.013726	0	0
CAPN13	92291	broad.mit.edu	37	2	30966371	30966371	+	Silent	SNP	G	G	A	rs140029412	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:30966371G>A	ENST00000295055.8	-	13	1499	c.1323C>T	c.(1321-1323)ttC>ttT	p.F441F	CAPN13_ENST00000534090.2_Silent_p.F441F	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	441					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AGTTGCGGCGGAATTTATTAT	0.458000													29	109					0	0	0.006320	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596513	24596513	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:24596513C>T	ENST00000535378.1	-	4	1004	c.362G>A	c.(361-363)tGg>tAg	p.W121*	KIAA0319_ENST00000537886.1_Nonsense_Mutation_p.W130*|KIAA0319_ENST00000378214.3_Nonsense_Mutation_p.W130*|KIAA0319_ENST00000543707.1_Nonsense_Mutation_p.W130*|KIAA0319_ENST00000430948.2_Nonsense_Mutation_p.W85*	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	130					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TGAGTCCCCCCAGATCCCCGA	0.552000													16	39					0	0	0.004990	0	0
NAIP	4671	broad.mit.edu	37	5	70308365	70308365	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:70308365G>A	ENST00000517649.1	-	4	668	c.378C>T	c.(376-378)ttC>ttT	p.F126F	NAIP_ENST00000194097.4_Silent_p.F126F|NAIP_ENST00000508426.2_Silent_p.F126F|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000523981.1_Intron	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	126					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TGTTCAAAAGGAACCCACAAT	0.483000													14	56					0	0	0.003163	0	0
EFCAB6	64800	broad.mit.edu	37	22	43933371	43933371	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:43933371G>A	ENST00000262726.7	-	29	4187	c.3934C>T	c.(3934-3936)Ccc>Tcc	p.P1312S	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.P1160S	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1312	Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTCTCTATGGGATCACAGTTC	0.542000													9	40					0	0	0.008291	0	0
SYCE1	93426	broad.mit.edu	37	10	135372435	135372435	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:135372435C>T	ENST00000368517.3	-	4	247	c.109G>A	c.(109-111)Gac>Aac	p.D37N	SYCE1_ENST00000343131.5_Missense_Mutation_p.D73N|SYCE1_ENST00000432597.2_Missense_Mutation_p.D37N|SPRN_ENST00000541506.1_Intron	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	73					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TCTCCTAGGTCTTTATTGGCT	0.507000													4	17					0	0	0.009096	0	0
CTAGE6	340307	broad.mit.edu	37	7	143453537	143453537	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:143453537C>T	ENST00000470691.2	-	1	1252	c.1215G>A	c.(1213-1215)gaG>gaA	p.E405E		NM_178561.4	NP_848656.2			CTAGE family, member 6													Melanoma(164;0.0903)					GGTAATTTTCCTCCACTGTTA	0.368000													17	62					0	0	0.004007	0	0
PPP1R14A	94274	broad.mit.edu	37	19	38743536	38743536	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:38743536G>A	ENST00000591585.1	-	2	472	c.280C>T	c.(280-282)Cag>Tag	p.Q94*	PPP1R14A_ENST00000347262.4_Intron|PPP1R14A_ENST00000587515.1_Nonsense_Mutation_p.Q24*|PPP1R14A_ENST00000591291.1_Nonsense_Mutation_p.Q94*|PPP1R14A_ENST00000301242.4_Nonsense_Mutation_p.Q94*			Q96A00	PP14A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14A	94	Inhibitory.				regulation of phosphorylation	cytoplasm	protein binding|protein phosphatase inhibitor activity			lung(1)	1	all_cancers(60;9.57e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCACCTACCTGGATTTTCCGG	0.527000													67	152					0	0	0.014410	0	0
FNDC1	84624	broad.mit.edu	37	6	159653975	159653975	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:159653975C>T	ENST00000297267.9	+	11	2631	c.2431C>T	c.(2431-2433)Cgg>Tgg	p.R811W	FNDC1_ENST00000340366.6_Missense_Mutation_p.R748W	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	811						extracellular region		p.R811W(1)		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)		GCTGCGGGCCCGGCCTGCCTC	0.647000													5	14					0	0	0.001984	0	0
DOCK2	1794	broad.mit.edu	37	5	169477382	169477382	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:169477382G>A	ENST00000256935.8	+	41	4274	c.4194G>A	c.(4192-4194)gtG>gtA	p.V1398V	DOCK2_ENST00000520908.1_Silent_p.V890V|DOCK2_ENST00000540750.1_Silent_p.V459V|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1398	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGATGATGTGAAGAATGCCC	0.562000													12	47					0	0	0.001855	0	0
GRID2	2895	broad.mit.edu	37	4	94137898	94137898	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:94137898G>A	ENST00000282020.4	+	6	1057	c.799G>A	c.(799-801)Gat>Aat	p.D267N	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.D172N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	267					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)	GGAAATAAACGATGTGGACGT	0.378000													22	25					0	0	0.014323	0	0
TENM2	57451	broad.mit.edu	37	5	167489213	167489213	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:167489213G>A	ENST00000519204.1	+	6	1213	c.1095G>A	c.(1093-1095)ggG>ggA	p.G365G	TENM2_ENST00000403607.2_Silent_p.G319G|TENM2_ENST00000545108.1_Silent_p.G486G|TENM2_ENST00000520394.1_Silent_p.G254G|TENM2_ENST00000518659.1_Silent_p.G486G					teneurin transmembrane protein 2																		TCTCCCTCGGGAAGGACGCTC	0.443000													19	43					0	0	0.012319	0	0
TOPORS	10210	broad.mit.edu	37	9	32543665	32543665	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:32543665G>A	ENST00000360538.2	-	3	974	c.858C>T	c.(856-858)ttC>ttT	p.F286F	TOPORS_ENST00000379858.1_Silent_p.F221F	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	286	Required for DNA-binding.				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)		GATTTCTACGGAAAAATTCAG	0.393000													10	33					0	0	0.006214	0	0
HYDIN	54768	broad.mit.edu	37	16	70897082	70897082	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:70897082G>A	ENST00000393567.2	-	68	11625	c.11475C>T	c.(11473-11475)ttC>ttT	p.F3825F		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3825								p.F3776F(1)|p.F3824F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TAATCACATCGAACCTGCAAA	0.448000													6	24					0	0	0.001168	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21752418	21752418	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:21752418G>A	ENST00000319481.3	-	22	2329	c.2123C>T	c.(2122-2124)cCc>cTc	p.P708L	OSBPL1A_ENST00000399443.3_Missense_Mutation_p.P195L|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.P326L	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	708					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					ACAGCAGGTGGGATTTGTCCA	0.393000													18	35					0	0	0.007413	0	0
DNAH1	25981	broad.mit.edu	37	3	52429461	52429461	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:52429461C>T	ENST00000420323.2	+	69	11367	c.11106C>T	c.(11104-11106)gcC>gcT	p.A3702A		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3767					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGCTCTCTGCCATCTCCCTGG	0.622000													13	30					0	0	0.003163	0	0
STON2	85439	broad.mit.edu	37	14	81743923	81743923	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:81743923C>T	ENST00000555447.1	-	6	2144	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K	STON2_ENST00000267540.2_Missense_Mutation_p.E578K	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	578	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CCAGAGAATTCATCTCTGACA	0.498000													7	43					0	0	0.001984	0	0
STAT5B	6777	broad.mit.edu	37	17	40384045	40384045	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:40384045A>G	ENST00000293328.3	-	2	269	c.101T>C	c.(100-102)tTa>tCa	p.L34S		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	34					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	CCACTGGGATAAATAATGCCG	0.428000													27	16					0	0	0.008361	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884334	228884334	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:228884334G>A	ENST00000392056.3	-	7	1282	c.1236C>T	c.(1234-1236)tcC>tcT	p.S412S	SPHKAP_ENST00000344657.5_Silent_p.S412S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	412						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGGGTAATGTGGACTGAGATT	0.438000													30	51					0	0	0.009535	0	0
CCR2	729230	broad.mit.edu	37	3	46399939	46399939	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:46399939C>T	ENST00000292301.4	+	2	1406	c.921C>T	c.(919-921)ttC>ttT	p.F307F	CCR2_ENST00000445132.2_Silent_p.F307F|CCR2_ENST00000400888.2_Silent_p.F307F|CCR2_ENST00000465202.1_3'UTR	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	307					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	p.F307F(1)		breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		TCTATGCCTTCGTTGGGGAGA	0.498000													45	77					0	0	0.014410	0	0
ACAN	176	broad.mit.edu	37	15	89400292	89400292	+	Silent	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:89400292T>C	ENST00000439576.2	+	12	4850	c.4476T>C	c.(4474-4476)tcT>tcC	p.S1492S	ACAN_ENST00000352105.7_Silent_p.S1492S|ACAN_ENST00000559004.1_Silent_p.S1492S|ACAN_ENST00000561243.1_Silent_p.S1492S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1492					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGCTTCCTTCTGGAGAGGTTG	0.507000													16	34					0	0	0.004007	0	0
DOCK3	1795	broad.mit.edu	37	3	51251631	51251631	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:51251631G>A	ENST00000266037.9	+	14	1228	c.1205G>A	c.(1204-1206)gGa>gAa	p.G402E		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	402						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTTAATAGGGGATTGGCAATT	0.423000													11	26					0	0	0.010729	0	0
COL4A4	1286	broad.mit.edu	37	2	227898195	227898195	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:227898195G>T	ENST00000396625.3	-	38	3715	c.3508C>A	c.(3508-3510)Ccc>Acc	p.P1170T	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1170T	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1170	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GATCCGGAGGGACCTGAAAAA	0.542000											OREG0015250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	31					2.61681e-11	2.8644e-11	0.002450	1	0
CLDN25	644672	broad.mit.edu	37	11	113650814	113650814	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:113650814C>T	ENST00000453129.2	+	1	346	c.297C>T	c.(295-297)agC>agT	p.S99S		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	99						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						TGCTCTGCAGCTTTGGGTCTG	0.557000													59	104					0	0	0.014410	0	0
OR52J3	119679	broad.mit.edu	37	11	5068330	5068330	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5068330G>A	ENST00000380370.1	+	1	575	c.575G>A	c.(574-576)gGa>gAa	p.G192E		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGTCCTGTGGAAACATTCGT	0.433000													26	68					0	0	0.003330	0	0
NDUFV1	4723	broad.mit.edu	37	11	67379641	67379641	+	Silent	SNP	C	C	A	rs145602077		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:67379641C>A	ENST00000322776.6	+	9	1366	c.1213C>A	c.(1213-1215)Cgg>Agg	p.R405R	NDUFV1_ENST00000415352.2_Silent_p.R398R|NDUFV1_ENST00000529927.1_Silent_p.R396R|NDUFV1_ENST00000532303.1_Silent_p.R304R	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	405					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	GGGGGATGCCCGGCCGGCCGA	0.607000													12	93					1.5842e-08	1.72843e-08	0.001855	1	0
OR2T10	127069	broad.mit.edu	37	1	248756344	248756344	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248756344G>A	ENST00000330500.2	-	1	756	c.726C>T	c.(724-726)tcC>tcT	p.S242S		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAATGTGGGAGGAGCAGGTGG	0.463000													5	22					0	0	0.001168	0	0
FCRL5	83416	broad.mit.edu	37	1	157514310	157514310	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:157514310C>T	ENST00000361835.3	-	5	743	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	FCRL5_ENST00000368190.3_Missense_Mutation_p.A196T|FCRL5_ENST00000368191.3_Missense_Mutation_p.A111T|FCRL5_ENST00000368189.3_Missense_Mutation_p.A196T|FCRL5_ENST00000356953.4_Missense_Mutation_p.A196T	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	196	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AAGGAGCTGGCTCTCAGCACT	0.547000													31	80					0	0	0.009535	0	0
GRM8	2918	broad.mit.edu	37	7	126086134	126086134	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:126086134G>A	ENST00000358373.3	-	10	3286	c.2723C>T	c.(2722-2724)tCc>tTc	p.S908F	GRM8_ENST00000339582.2_Intron|GRM8_ENST00000444921.2_Intron	NM_001127323.1	NP_001120795.1	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	0					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CATCTATTAGGAAGTGCTCCC	0.458000										HNSCC(24;0.065)			33	69					0	0	0.013726	0	0
ACAD9	28976	broad.mit.edu	37	3	128627105	128627105	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:128627105C>T	ENST00000308982.7	+	13	1437	c.1356C>T	c.(1354-1356)atC>atT	p.I452I	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	452						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CTACCAGGATCCAGTAGGTGC	0.592000													25	60					0	0	0.003330	0	0
TRAV12-2	28673	broad.mit.edu	37	14	22356669	22356669	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:22356669C>T	ENST00000390437.2	+	0	432																											CCACCTACCTCTGTGCCGTGA	0.522000													22	109					0	0	0.003330	0	0
IRF6	3664	broad.mit.edu	37	1	209961934	209961934	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:209961934C>T	ENST00000367021.3	-	9	1407	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	IRF6_ENST00000542854.1_Missense_Mutation_p.R317Q	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	412					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		ATCAAAGGATCGTGTGAAATC	0.488000										HNSCC(57;0.16)			9	50					0	0	0.008291	0	0
PLA2R1	22925	broad.mit.edu	37	2	160808060	160808060	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:160808060C>T	ENST00000283243.7	-	24	3537	c.3331G>A	c.(3331-3333)Gat>Aat	p.D1111N	PLA2R1_ENST00000392771.1_Missense_Mutation_p.D1111N	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1111					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GGATACATATCAGATGTATTT	0.363000													15	38					0	0	0.004007	0	0
CD48	962	broad.mit.edu	37	1	160654584	160654584	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:160654584C>T	ENST00000368045.3	-	2	517	c.478G>A	c.(478-480)Gag>Aag	p.E160K	CD48_ENST00000368046.3_Intron			P09326	CD48_HUMAN	CD48 molecule	0	Ig-like C2-type 2.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTCTCCTCCTCCCCGAGAGTG	0.507000													27	24					0	0	0.003954	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18504852	18504852	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:18504852A>C	ENST00000380548.4	+	2	428	c.89A>C	c.(88-90)gAg>gCg	p.E30A	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.E30A|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.E30A|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.E30A|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.E30A|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.E30A	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	30						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CGCTCCGAGGAGGACCGGGAC	0.587000													22	35					0	0	0.003330	0	0
CA9	768	broad.mit.edu	37	9	35680762	35680762	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:35680762C>T	ENST00000378357.4	+	10	1354	c.1250C>T	c.(1249-1251)gCc>gTc	p.A417V	CA9_ENST00000493245.1_3'UTR	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	417					one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GACATCCTAGCCCTGGTTTTT	0.557000													9	40					0	0	0.004482	0	0
CADPS2	93664	broad.mit.edu	37	7	122033545	122033545	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:122033545G>A	ENST00000334010.7	-	19	3253	c.2832C>T	c.(2830-2832)atC>atT	p.I944I	RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000449022.2_Silent_p.I946I|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000313070.7_Silent_p.I940I|CADPS2_ENST00000412584.2_Silent_p.I940I	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	946	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TTGACTGGGCGATGGAAGACT	0.458000													31	61					0	0	0.009535	0	0
IKBKB	3551	broad.mit.edu	37	8	42162742	42162742	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:42162742C>T	ENST00000520810.1	+	6	612	c.426C>T	c.(424-426)atC>atT	p.I142I	IKBKB_ENST00000519735.1_Silent_p.I142I|IKBKB_ENST00000520835.1_Silent_p.I140I|IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000416505.2_Silent_p.I83I|IKBKB_ENST00000522147.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	142	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	ACAGAATCATCCATCGGGATC	0.498000													11	27					0	0	0.013537	0	0
TTN	7273	broad.mit.edu	37	2	179614846	179614846	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179614846C>T	ENST00000360870.5	-	46	12503	c.12281G>A	c.(12280-12282)gGa>gAa	p.G4094E	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3468							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)			TTCTGTGTCTCCAGAGGGAGG	0.428000													16	32					0	0	0.004007	0	0
CWC25	54883	broad.mit.edu	37	17	36977268	36977268	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:36977268G>A	ENST00000225428.4	-	2	374	c.77C>T	c.(76-78)gCc>gTc	p.A26V	CWC25_ENST00000536127.1_5'UTR	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	26										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						CTTCTGCTCGGCCTTCCACAC	0.537000													40	28					0	0	0.009718	0	0
OR2T34	127068	broad.mit.edu	37	1	248737702	248737702	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248737702G>A	ENST00000328782.2	-	1	378	c.357C>T	c.(355-357)ctC>ctT	p.L119L		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGCAGCCAGGAGGAAAACCT	0.567000													18	52					0	0	0.006320	0	0
NBAS	51594	broad.mit.edu	37	2	15427214	15427214	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:15427214G>A	ENST00000281513.5	-	42	5146	c.5121C>T	c.(5119-5121)ttC>ttT	p.F1707F	NBAS_ENST00000441750.1_Silent_p.F1587F	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1707										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CCGTGAAGAGGAACTCCAAAT	0.423000													10	49					0	0	0.008291	0	0
MARCH6	10299	broad.mit.edu	37	5	10426625	10426625	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:10426625C>T	ENST00000274140.5	+	24	2629	c.2497C>T	c.(2497-2499)Cct>Tct	p.P833S	MARCH6_ENST00000510792.1_Missense_Mutation_p.P531S|MARCH6_ENST00000503788.1_Missense_Mutation_p.P728S|MARCH6_ENST00000449913.2_Missense_Mutation_p.P785S	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	833					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TGGTGTTGTTCCTTTACTAGG	0.433000													26	62					0	0	0.008361	0	0
MAST2	23139	broad.mit.edu	37	1	46474017	46474017	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:46474017C>T	ENST00000361297.2	+	9	1235	c.952C>T	c.(952-954)Cat>Tat	p.H318Y	MAST2_ENST00000372008.1_Missense_Mutation_p.H203Y|MAST2_ENST00000372009.2_Missense_Mutation_p.H318Y	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	318					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					AATGATGAATCATGTTTACAA	0.423000													10	20					0	0	0.006214	0	0
FLG2	388698	broad.mit.edu	37	1	152324797	152324797	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152324797C>T	ENST00000388718.5	-	3	5537	c.5465G>A	c.(5464-5466)cGa>cAa	p.R1822Q	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1822							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)			AGTGTGTCCTCGTGAGTGTGG	0.522000													53	97					0	0	0.014410	0	0
HSPB7	27129	broad.mit.edu	37	1	16343579	16343579	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:16343579C>T	ENST00000311890.9	-	2	1149	c.323G>A	c.(322-324)cGg>cAg	p.R108Q	HSPB7_ENST00000375718.4_Missense_Mutation_p.R183Q|HSPB7_ENST00000487046.1_Missense_Mutation_p.R113Q|HSPB7_ENST00000411503.1_Intron|HSPB7_ENST00000406363.2_Missense_Mutation_p.R112Q	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	108					regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		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;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCTCAGCCCGCACCTCGAT	0.567000													33	78					0	0	0.012213	0	0
PCED1A	64773	broad.mit.edu	37	20	2816920	2816920	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:2816920G>A	ENST00000360652.2	-	7	1384	c.882C>T	c.(880-882)ttC>ttT	p.F294F	PCED1A_ENST00000356872.3_Silent_p.F243F	NM_022760.3	NP_073597.2			PC-esterase domain containing 1A																		GGCTTCCCTGGAATGGATGAT	0.587000													30	69					0	0	0.012213	0	0
CDH13	1012	broad.mit.edu	37	16	83251002	83251002	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:83251002G>A	ENST00000566620.1	+	5	826	c.536G>A	c.(535-537)gGa>gAa	p.G179E	CDH13_ENST00000268613.10_Missense_Mutation_p.G226E|CDH13_ENST00000428848.3_Missense_Mutation_p.G140E|CDH13_ENST00000569454.1_3'UTR	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	179	Cadherin 1.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		ACTGGAAAGGGAGTGGATCAA	0.458000													13	32					0	0	0.003163	0	0
CR1	1378	broad.mit.edu	37	1	207782822	207782822	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:207782822G>A	ENST00000367049.4	+	37	6084	c.6084G>A	c.(6082-6084)tgG>tgA	p.W2028*	CR1_ENST00000400960.2_Nonsense_Mutation_p.W1578*|CR1_ENST00000367053.1_Nonsense_Mutation_p.W1578*|CR1_ENST00000367052.1_Nonsense_Mutation_p.W1578*|CR1_ENST00000367051.1_Nonsense_Mutation_p.W1578*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1578					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTGGTGTTTGGAGCAGCCCTC	0.458000													22	25					0	0	0.010504	0	0
CHD7	55636	broad.mit.edu	37	8	61769330	61769330	+	Silent	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:61769330C>A	ENST00000423902.2	+	34	7970	c.7491C>A	c.(7489-7491)ctC>ctA	p.L2497L	CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2497					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAAGGCATCTCCTTAATGGCT	0.502000													36	78					1.30998e-17	1.43785e-17	0.005524	1	0
HOXC12	3228	broad.mit.edu	37	12	54348920	54348920	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:54348920C>T	ENST00000243103.3	+	1	303	c.207C>T	c.(205-207)ctC>ctT	p.L69L		NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	69					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						AGCCCTACCTCGGCAGCCCAG	0.701000													10	6					0	0	0.010729	0	0
MLC1	23209	broad.mit.edu	37	22	50500075	50500075	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:50500075G>A	ENST00000311597.5	-	12	1677	c.1071C>T	c.(1069-1071)agC>agT	p.S357S	MLC1_ENST00000538737.1_Silent_p.S323S|MLC1_ENST00000535444.1_Silent_p.S278S|MLC1_ENST00000395876.2_Silent_p.S357S|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000450140.2_Silent_p.S305S|MLC1_ENST00000431262.2_Silent_p.S327S	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	357						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CCTTCAGGGGGCTCCTGGCCA	0.652000													21	31					0	0	0.012319	0	0
SPEM1	374768	broad.mit.edu	37	17	7324787	7324787	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:7324787C>T	ENST00000323675.3	+	3	818	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	265					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				GTATGATGCCCGGGACATGAG	0.652000													7	13					0	0	0.001984	0	0
KIAA1279	26128	broad.mit.edu	37	10	70775992	70775992	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:70775992C>T	ENST00000361983.4	+	7	1788	c.1686C>T	c.(1684-1686)ccC>ccT	p.P562P		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	562					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						CTGCAGATCCCAAGAAAGAGC	0.423000													7	30					0	0	0.001984	0	0
PCDH15	65217	broad.mit.edu	37	10	55569166	55569166	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:55569166C>T	ENST00000395445.1	-	36	5038	c.4644G>A	c.(4642-4644)atG>atA	p.M1548I	PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395446.1_Missense_Mutation_p.M744I|PCDH15_ENST00000395440.1_Missense_Mutation_p.M482I|PCDH15_ENST00000395442.1_Missense_Mutation_p.M413I|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTTAAAAATCATGGGGAATA	0.423000										HNSCC(58;0.16)			13	59					0	0	0.001855	0	0
MYLK	4638	broad.mit.edu	37	3	123376184	123376184	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:123376184C>T	ENST00000360772.3	-	25	4455	c.4077G>A	c.(4075-4077)ggG>ggA	p.G1359G	MYLK_ENST00000360304.3_Silent_p.G1359G|MYLK_ENST00000354792.5_Silent_p.G159G|MYLK_ENST00000346322.5_Silent_p.G1290G|MYLK_ENST00000475616.1_Silent_p.G1359G|MYLK_ENST00000359169.1_Silent_p.G1359G			Q15746	MYLK_HUMAN	myosin light chain kinase	1359	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Fibronectin type-III.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGCACTGCCCCCATCATATG	0.567000													7	24					0	0	0.003080	0	0
PDK4	5166	broad.mit.edu	37	7	95222231	95222231	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:95222231G>A	ENST00000005178.5	-	4	567	c.370C>T	c.(370-372)Cga>Tga	p.R124*		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	124					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			TGTCTATTTCGAACTTTGATG	0.353000													33	40					0	0	0.013726	0	0
TRPM6	140803	broad.mit.edu	37	9	77417047	77417047	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:77417047T>A	ENST00000451710.3	-	16	2013	c.1776A>T	c.(1774-1776)gaA>gaT	p.E592D	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.E592D|TRPM6_ENST00000449912.2_Missense_Mutation_p.E587D|TRPM6_ENST00000360774.1_Missense_Mutation_p.E592D|TRPM6_ENST00000361255.3_Missense_Mutation_p.E587D|TRPM6_ENST00000376872.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	592					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						ATACATTTTGTTCTTTTGACT	0.368000													7	15					0	0	0.003080	0	0
MAEL	84944	broad.mit.edu	37	1	166958650	166958650	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:166958650G>A	ENST00000367872.4	+	1	305	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	MAEL_ENST00000367870.2_Missense_Mutation_p.E21K	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	21					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GAAGATCCCCGAACTACGGCG	0.597000													4	10					0	0	0.009096	0	0
MAP1B	4131	broad.mit.edu	37	5	71494054	71494054	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:71494054C>T	ENST00000296755.7	+	5	5170	c.4872C>T	c.(4870-4872)ttC>ttT	p.F1624F		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1624						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CACCAGATTTCTCCCCTAAAA	0.448000													14	45					0	0	0.002450	0	0
MAP1A	4130	broad.mit.edu	37	15	43813704	43813704	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:43813704C>T	ENST00000382031.1	+	5	778	c.747C>T	c.(745-747)gtC>gtT	p.V249V	MAP1A_ENST00000399453.1_Silent_p.V11V|MAP1A_ENST00000300231.5_Silent_p.V11V			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	11				A -> G (in Ref. 5; CAA87104).		cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCGAGTATGTCTCTGAGACTG	0.582000													16	34					0	0	0.004990	0	0
ALPK3	57538	broad.mit.edu	37	15	85406124	85406124	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:85406124G>A	ENST00000258888.5	+	10	5161	c.4994G>A	c.(4993-4995)aGa>aAa	p.R1665K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1665	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTTGTGGGCAGAAACTACGAC	0.552000													6	63					0	0	0.006214	0	0
ZNF425	155054	broad.mit.edu	37	7	148801242	148801242	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:148801242C>T	ENST00000378061.2	-	4	1853	c.1721G>A	c.(1720-1722)cGg>cAg	p.R574Q		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	574					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCTGTGCATCCGCTGGTGGAA	0.602000													8	29					0	0	0.006214	0	0
SNHG14	104472715	broad.mit.edu	37	15	25479454	25479454	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:25479454C>T	ENST00000453082.2	+	0	1891				SNORD115-35_ENST00000365122.1_RNA	NR_003343.1																						AAATCATGCTCAATAGGATTA	0.502000													45	106					0	0	0.014410	0	0
ANGPT1	284	broad.mit.edu	37	8	108306176	108306176	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:108306176C>T	ENST00000520734.1	-	5	711	c.426G>A	c.(424-426)aaG>aaA	p.K142K	ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Silent_p.K141K			Q15389	ANGP1_HUMAN	angiopoietin 1	342					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TTTTATATTCCTTCCAGCCTC	0.363000													22	46					0	0	0.014323	0	0
IL12RB1	3594	broad.mit.edu	37	19	18177429	18177429	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:18177429G>A	ENST00000600835.1	-	13	1709	c.1406C>T	c.(1405-1407)tCc>tTc	p.S469F	IL12RB1_ENST00000593993.1_Missense_Mutation_p.S469F|IL12RB1_ENST00000430026.2_Missense_Mutation_p.S469F			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	469	Fibronectin type-III 5.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|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	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GCTCAGCAGGGATGGTGCCCA	0.567000													50	79					0	0	0.014410	0	0
STYK1	55359	broad.mit.edu	37	12	10783853	10783853	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:10783853C>T	ENST00000075503.3	-	5	762	c.242G>A	c.(241-243)gGa>gAa	p.G81E		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	81						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						AGCCACATTTCCTCCATGTCC	0.557000										HNSCC(73;0.22)			39	27					0	0	0.006230	0	0
TRIM29	23650	broad.mit.edu	37	11	119998247	119998247	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:119998247C>T	ENST00000341846.5	-	3	1352	c.931G>A	c.(931-933)Gag>Aag	p.E311K	TRIM29_ENST00000529044.1_Missense_Mutation_p.E50K|TRIM29_ENST00000541857.1_Missense_Mutation_p.E44K	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	311					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		AAGTTCTGCTCCAGGATGGCC	0.567000													14	17					0	0	0.002450	0	0
RAET1K	646024	broad.mit.edu	37	6	150322216	150322216	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:150322216C>T	ENST00000533735.1	-	0	660					NR_024045.1																						TCTGCCGTGTCCGTGGGCTTC	0.512000													13	26					0	0	0.001855	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764749	77764749	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:77764749G>A	ENST00000521891.2	+	10	6040	c.5592G>A	c.(5590-5592)aaG>aaA	p.K1864K	ZFHX4_ENST00000518282.1_Silent_p.K1838K|ZFHX4_ENST00000050961.6_Silent_p.K1819K|ZFHX4_ENST00000455469.2_Silent_p.K1819K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1819						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)			TTTCTGAAAAGCCAGAAAAAC	0.398000										HNSCC(33;0.089)			3	7					0	0	0.004672	0	0
AGMAT	79814	broad.mit.edu	37	1	15905500	15905500	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:15905500C>T	ENST00000375826.3	-	4	716	c.574G>A	c.(574-576)Gac>Aac	p.D192N	DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	192					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGCCTTGTCGGTCGTGTCC	0.647000													17	19					0	0	0.007413	0	0
SLC1A4	6509	broad.mit.edu	37	2	65217269	65217269	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:65217269C>T	ENST00000234256.3	+	1	735	c.492C>T	c.(490-492)ccC>ccT	p.P164P	SLC1A4_ENST00000531327.1_Intron|SLC1A4_ENST00000493121.1_Intron	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	164					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CTCCTGTCCCCAAAGAGACGG	0.637000													5	13					0	0	0.001168	0	0
CYP4X1	260293	broad.mit.edu	37	1	47501741	47501741	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:47501741C>T	ENST00000371901.3	+	6	923	c.673C>T	c.(673-675)Cac>Tac	p.H225Y	CYP4X1_ENST00000538609.1_Missense_Mutation_p.H224Y	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	225						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						AATCATATTTCACCGCTTGTA	0.388000													41	97					0	0	0.007835	0	0
COL18A1	80781	broad.mit.edu	37	21	46893817	46893817	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:46893817C>T	ENST00000359759.4	+	3	1926	c.1905C>T	c.(1903-1905)atC>atT	p.I635I	COL18A1_ENST00000400337.2_Silent_p.I220I|COL18A1_ENST00000355480.5_Silent_p.I400I			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	635	TSP N-terminal.				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)		AGGGGGTGATCGCTGAGCTGA	0.637000													4	3					0	0	0.000602	0	0
HYDIN	54768	broad.mit.edu	37	16	71054220	71054220	+	Splice_Site	SNP	T	T	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:71054220T>G	ENST00000393567.2	-	22	3337	c.3186_splice	c.e22-1	p.K1063_splice	HYDIN_ENST00000448089.2_Splice_Site_p.K1015_splice	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1063										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTGTTAGGTTTCTGCAAAAAC	0.388000													9	16					0	0	0.008291	0	0
CATSPERD	257062	broad.mit.edu	37	19	5772804	5772804	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:5772804G>A	ENST00000381624.3	+	20	1830	c.1769G>A	c.(1768-1770)cGa>cAa	p.R590Q	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	590						integral to membrane											CCTAGGTGGCGAAAAGACAGT	0.612000													18	79					0	0	0.003330	0	0
C10orf53	282966	broad.mit.edu	37	10	50916662	50916662	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:50916662G>A	ENST00000374112.3	+	3	485	c.473G>A	c.(472-474)tGa>tAa	p.*158*	C10orf53_ENST00000535836.1_Silent_p.*158*	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	0										endometrium(1)|lung(6)	7		all_neural(218;0.107)				cagccctactgaaatcgacag	0.468000													13	52					0	0	0.002450	0	0
NAALAD2	10003	broad.mit.edu	37	11	89903266	89903266	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:89903266C>T	ENST00000534061.1	+	13	1602	c.1372C>T	c.(1372-1374)Ccc>Tcc	p.P458S	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.P425S	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	458	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGACTGTACTCCCCTTCTTTA	0.294000													11	94					0	0	0.002450	0	0
RIMS2	9699	broad.mit.edu	37	8	105257166	105257166	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:105257166G>A	ENST00000507740.1	+	18	3035	c.2799G>A	c.(2797-2799)agG>agA	p.R933R	RIMS2_ENST00000436393.2_Silent_p.R1137R|RIMS2_ENST00000262231.10_Silent_p.R958R|RIMS2_ENST00000339750.2_Silent_p.R55R|RIMS2_ENST00000406091.3_Silent_p.R1119R	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1181					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAAAACTAAGGAGCACTGTCC	0.448000										HNSCC(12;0.0054)			40	70					0	0	0.006999	0	0
EVL	51466	broad.mit.edu	37	14	100603959	100603959	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:100603959C>A	ENST00000544450.2	+	10	1304	c.1021C>A	c.(1021-1023)Cct>Act	p.P341T	EVL_ENST00000402714.2_Missense_Mutation_p.P335T|EVL_ENST00000392920.3_Missense_Mutation_p.P337T			Q9UI08	EVL_HUMAN	Enah/Vasp-like	335	EVH2.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding	p.P337A(1)		cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				GGTGGAGAAGCCTGTGTCCTC	0.612000													25	23					9.57634e-11	1.04767e-10	0.003330	1	0
CDK5RAP3	80279	broad.mit.edu	37	17	46052592	46052592	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:46052592C>T	ENST00000536708.2	+	6	586	c.477C>T	c.(475-477)gcC>gcT	p.A159A	CDK5RAP3_ENST00000338399.4_Silent_p.A134A	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	134					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						AGCAGATTGCCAAGTGCCAGC	0.562000													56	33					0	0	0.014410	0	0
SPAM1	6677	broad.mit.edu	37	7	123594434	123594434	+	Silent	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:123594434T>A	ENST00000340011.5	+	3	1167	c.810T>A	c.(808-810)tcT>tcA	p.S270S	SPAM1_ENST00000223028.7_Silent_p.S270S|SPAM1_ENST00000460182.1_Silent_p.S270S|SPAM1_ENST00000402183.2_Silent_p.S270S|SPAM1_ENST00000439500.1_Silent_p.S270S	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	270					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CTCAGCAGTCTCCTGTAGCTG	0.413000													24	47					0	0	0.005443	0	0
SLC26A7	115111	broad.mit.edu	37	8	92364064	92364064	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:92364064C>T	ENST00000276609.3	+	10	1406	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	SLC26A7_ENST00000523719.1_Silent_p.F389F|SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000309536.2_Silent_p.F389F	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	389						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)			CTTGCATTTTCGTCCTTATAG	0.353000													29	74					0	0	0.003271	0	0
TCTEX1D1	200132	broad.mit.edu	37	1	67243089	67243089	+	Silent	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:67243089T>C	ENST00000282670.2	+	5	620	c.492T>C	c.(490-492)aaT>aaC	p.N164N		NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	164										large_intestine(2)|lung(10)|skin(1)	13						TTTTCAGAAATTCTTCTCTCT	0.378000													40	76					0	0	0.009718	0	0
GPR183	1880	broad.mit.edu	37	13	99947367	99947367	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:99947367C>T	ENST00000376414.4	-	2	1116	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	345					humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						TCTGTCATTTCACGTGAATTT	0.378000													13	35					0	0	0.002450	0	0
IL21R	50615	broad.mit.edu	37	16	27441437	27441437	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:27441437G>A	ENST00000337929.3	+	2	518	c.45G>A	c.(43-45)caG>caA	p.Q15Q	IL21R_ENST00000395755.1_Silent_p.Q15Q|IL21R_ENST00000395754.4_Silent_p.Q15Q|IL21R_ENST00000564089.1_Silent_p.Q15Q	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	15					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TGCTGCTCCAGGGAGGTAAGT	0.687000			T	BCL6	NHL								14	17					0	0	0.006122	0	0
ZNF699	374879	broad.mit.edu	37	19	9406742	9406742	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9406742G>A	ENST00000591998.1	-	6	1566	c.1338C>T	c.(1336-1338)ccC>ccT	p.P446P	ZNF699_ENST00000308650.3_Silent_p.P446P			Q32M78	ZN699_HUMAN	zinc finger protein 699	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TACATTCATAGGGTTTCTCTC	0.423000													11	29					0	0	0.010729	0	0
DNAH5	1767	broad.mit.edu	37	5	13719031	13719031	+	Silent	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:13719031A>T	ENST00000265104.4	-	72	12563	c.12459T>A	c.(12457-12459)ccT>ccA	p.P4153P		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4153	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTCCTTGTGGAGGATCGTTGG	0.448000									Kartagener syndrome				23	38					0	0	0.003954	0	0
ZNF833P	401898	broad.mit.edu	37	19	11762578	11762578	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:11762578C>T	ENST00000344893.3	+	0	590					NR_028594.1															endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						GGGGTAAAACCATGTGAAAGC	0.443000													3	19					0	0	0.009096	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276849	71276849	+	Silent	SNP	G	G	A	rs36179995		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:71276849G>A	ENST00000398531.1	+	1	241	c.216G>A	c.(214-216)ggG>ggA	p.G72G	KRTAP5-10_ENST00000376536.4_Silent_p.G72G	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	72	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTCCAAGGGGGACTGTGGCT	0.677000													65	93					0	0	0.014410	0	0
UNC13C	440279	broad.mit.edu	37	15	54914527	54914527	+	Missense_Mutation	SNP	C	C	T	rs141439711	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:54914527C>T	ENST00000545554.1	+	30	6109	c.6109C>T	c.(6109-6111)Cgt>Tgt	p.R2037C	UNC13C_ENST00000260323.11_Missense_Mutation_p.R2037C|UNC13C_ENST00000537900.1_Missense_Mutation_p.R2035C|UNC13C_ENST00000539562.2_5'UTR			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2037					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATTTTCAGGTCGTTCCTCCAA	0.398000													20	32					0	0	0.002780	0	0
GPR101	83550	broad.mit.edu	37	X	136112786	136112786	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:136112786C>T	ENST00000298110.1	-	1	1047	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	350						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					ATGTCATCTTCACCCAAGTCA	0.532000													75	39					0	0	0.014410	0	0
ATP12A	479	broad.mit.edu	37	13	25272843	25272843	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:25272843G>A	ENST00000218548.6	+	12	1911	c.1578G>A	c.(1576-1578)atG>atA	p.M526I	ATP12A_ENST00000381946.3_Missense_Mutation_p.M520I	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	520					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GCTTCCTCATGGTGATGAAGG	0.552000													7	27					0	0	0.001984	0	0
EPHA6	285220	broad.mit.edu	37	3	96706498	96706498	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:96706498C>T	ENST00000389672.5	+	3	813	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	EPHA6_ENST00000542517.1_Missense_Mutation_p.R165C|EPHA6_ENST00000470610.2_Missense_Mutation_p.R259C	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	164						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R165S(2)|p.R259S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTTGGGTGATCGCATCCTCAA	0.443000													69	140					0	0	0.014410	0	0
DNAH5	1767	broad.mit.edu	37	5	13692125	13692125	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:13692125G>A	ENST00000265104.4	-	79	13947	c.13843C>T	c.(13843-13845)Cgt>Tgt	p.R4615C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4615					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCAACCCCACGGAGCACCCAG	0.483000									Kartagener syndrome				12	38					0	0	0.010729	0	0
CCDC141	285025	broad.mit.edu	37	2	179701784	179701784	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179701784G>A	ENST00000420890.2	-	23	4279	c.4162C>T	c.(4162-4164)Cct>Tct	p.P1388S	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.P813S	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	813							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)			TCTTCTCGAGGAACCATTTGC	0.498000													14	31					0	0	0.002450	0	0
BTLA	151888	broad.mit.edu	37	3	112190185	112190185	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:112190185C>T	ENST00000334529.5	-	3	623	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	BTLA_ENST00000383680.4_Intron	NM_181780.3	NP_861445.3	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	141					T cell costimulation		receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				GAGGGTCGTTCTGAGGCACTT	0.468000													23	40					0	0	0.006320	0	0
TSSK4	283629	broad.mit.edu	37	14	24676380	24676380	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:24676380G>A	ENST00000339917.5	+	3	703	c.499G>A	c.(499-501)Gac>Aac	p.D167N	TM9SF1_ENST00000556387.1_Intron|TSSK4_ENST00000428351.2_Intron|TM9SF1_ENST00000530611.1_Intron|TSSK4_ENST00000556621.1_Missense_Mutation_p.D81N|TSSK4_ENST00000287913.6_Missense_Mutation_p.D157N	NM_001184739.1|NM_174944.3	NP_001171668.1|NP_777604.2	Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	157	Protein kinase.				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		CCTGTTGCTGGACAAGTGGGA	0.522000													56	69					0	0	0.014410	0	0
DAB2	1601	broad.mit.edu	37	5	39376948	39376948	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:39376948C>T	ENST00000545653.1	-	11	2408	c.1878G>A	c.(1876-1878)gaG>gaA	p.E626E	DAB2_ENST00000509337.1_Silent_p.E626E|DAB2_ENST00000320816.6_Silent_p.E647E|DAB2_ENST00000339788.6_Silent_p.E429E	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	647					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CATCCTTGATCTCTTTATCCC	0.552000											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	39					0	0	0.008291	0	0
SORL1	6653	broad.mit.edu	37	11	121393342	121393342	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:121393342C>T	ENST00000260197.7	+	10	1581	c.1452C>T	c.(1450-1452)ctC>ctT	p.L484L	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	484					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TCAGTCAGCTCCTCAACCTCC	0.552000													40	67					0	0	0.011902	0	0
UNC5D	137970	broad.mit.edu	37	8	35606087	35606087	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:35606087C>T	ENST00000287272.2	+	11	1622	c.1602C>T	c.(1600-1602)gtC>gtT	p.V534V	UNC5D_ENST00000404895.2_Silent_p.V603V|UNC5D_ENST00000449677.1_Silent_p.V179V|UNC5D_ENST00000453357.2_Silent_p.V598V|UNC5D_ENST00000416672.1_Silent_p.V608V|UNC5D_ENST00000420357.1_Silent_p.V536V			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	603					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GTCCTGAAGTCACCTGTGGTC	0.478000													21	58					0	0	0.003330	0	0
SLC1A3	6507	broad.mit.edu	37	5	36680625	36680625	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:36680625T>G	ENST00000265113.4	+	8	1699	c.1223T>G	c.(1222-1224)tTg>tGg	p.L408W	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Missense_Mutation_p.L408W	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	408					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TATGAGGCTTTGGCTGCCATT	0.458000													12	29					0	0	0.001855	0	0
PRLR	5618	broad.mit.edu	37	5	35066042	35066042	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:35066042G>A	ENST00000382002.5	-	10	1444	c.1018C>T	c.(1018-1020)Ccc>Tcc	p.P340S	PRLR_ENST00000310101.5_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.P239S|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.P239S	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	340					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGGTATGTGGGTTTCATACCT	0.498000													17	32					0	0	0.008871	0	0
MYO18B	84700	broad.mit.edu	37	22	26164826	26164826	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:26164826G>A	ENST00000335473.7	+	4	1193	c.943G>A	c.(943-945)Ggg>Agg	p.G315R	MYO18B_ENST00000536101.1_Missense_Mutation_p.G315R|MYO18B_ENST00000407587.2_Missense_Mutation_p.G315R	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	315						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCAAATCCCTGGGAGAAAGTG	0.532000													5	13					0	0	0.001168	0	0
LAMB3	3914	broad.mit.edu	37	1	209799120	209799120	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:209799120C>T	ENST00000391911.1	-	13	2238	c.1849G>A	c.(1849-1851)Gac>Aac	p.D617N	LAMB3_ENST00000356082.4_Missense_Mutation_p.D617N|LAMB3_ENST00000367030.3_Missense_Mutation_p.D617N	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	617	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGGCCACGGTCCTCCAGCCCA	0.622000													28	43					0	0	0.003271	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41447372	41447372	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:41447372G>A	ENST00000599198.1	+	0	871					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						GCTCCACATGGAAAAAGTGGG	0.567000													17	39					0	0	0.004007	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962950	69962950	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:69962950G>A	ENST00000305231.7	+	1	758	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.E238K	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	238					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTTTTATAGTGAAGTTCTAGG	0.328000													12	27					0	0	0.001855	0	0
PCDHA5	56143	broad.mit.edu	37	5	140201466	140201466	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140201466G>A	ENST00000529859.1	+	1	106	c.106G>A	c.(106-108)Gag>Aag	p.E36K	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.E36K|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.E36K|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGATCCCGGAGGAAGCCAA	0.652000													16	45					0	0	0.004007	0	0
TEX15	56154	broad.mit.edu	37	8	30695200	30695200	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:30695200G>A	ENST00000256246.2	-	3	7525	c.7451C>T	c.(7450-7452)tCc>tTc	p.S2484F		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2484										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GGGATCTGGGGAATTTTTAAG	0.413000													23	48					0	0	0.003330	0	0
PACSIN1	29993	broad.mit.edu	37	6	34499443	34499443	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:34499443C>T	ENST00000538621.1	+	9	1349	c.1104C>T	c.(1102-1104)ccC>ccT	p.P368P	PACSIN1_ENST00000374043.2_Silent_p.P326P|PACSIN1_ENST00000244458.2_Silent_p.P368P	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	368					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GTGGGAACCCCTTTGGGGGCA	0.632000													18	140					0	0	0.012319	0	0
POTEE	445582	broad.mit.edu	37	2	132021798	132021798	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:132021798G>A	ENST00000356920.5	+	15	2864	c.2770G>A	c.(2770-2772)Gag>Aag	p.E924K	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	924	Actin-like.						ATP binding										CCTGGACTTCGAGCAGGAGAT	0.602000													27	148					0	0	0.007291	0	0
HRH1	3269	broad.mit.edu	37	3	11302062	11302062	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:11302062G>A	ENST00000397056.1	+	3	1530	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	HRH1_ENST00000438284.2_Missense_Mutation_p.E447K|HRH1_ENST00000431010.2_Missense_Mutation_p.E447K	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	447					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CTGTTGCAATGAACATTTGCA	0.458000													29	218					0	0	0.010818	0	0
SARDH	1757	broad.mit.edu	37	9	136599120	136599120	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:136599120G>A	ENST00000371872.4	-	2	433	c.176C>T	c.(175-177)cCa>cTa	p.P59L	SARDH_ENST00000298628.5_Missense_Mutation_p.P59L|SARDH_ENST00000422262.2_Intron|SARDH_ENST00000371867.1_5'UTR|SARDH_ENST00000439388.1_Missense_Mutation_p.P59L	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	59					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGGCCGGCTTGGGCCTTGGGC	0.667000													9	30					0	0	0.013537	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18807949	18807949	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:18807949C>T	ENST00000400664.1	+	1	526	c.474C>T	c.(472-474)ttC>ttT	p.F158F		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	158						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCCCATTTCCCCCGCTTGG	0.647000													16	33					0	0	0.006122	0	0
KEL	3792	broad.mit.edu	37	7	142650977	142650977	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142650977G>A	ENST00000355265.2	-	9	1465	c.991C>T	c.(991-993)Cct>Tct	p.P331S	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	331					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GACTGAGAAGGGCTCAGGGAC	0.542000													46	87					0	0	0.014410	0	0
SCARA3	51435	broad.mit.edu	37	8	27516524	27516524	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:27516524C>T	ENST00000301904.3	+	5	857	c.837C>T	c.(835-837)atC>atT	p.I279I	SCARA3_ENST00000337221.4_Silent_p.I279I	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	279					response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		TCAAGAACATCCAGGCCACCC	0.602000													12	23					0	0	0.010729	0	0
MIPOL1	145282	broad.mit.edu	37	14	37739697	37739697	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:37739697G>A	ENST00000327441.7	+	7	926	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	MIPOL1_ENST00000396294.2_Missense_Mutation_p.E154K|MIPOL1_ENST00000537471.1_Missense_Mutation_p.E154K|MIPOL1_ENST00000536774.1_Intron|MIPOL1_ENST00000539174.2_3'UTR|MIPOL1_ENST00000539062.2_Missense_Mutation_p.E123K|MIPOL1_ENST00000556451.1_Missense_Mutation_p.E123K|MIPOL1_ENST00000545536.1_Missense_Mutation_p.E123K	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	154										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		CCAAGAGAAAGAAACAGAAGC	0.338000													15	18					0	0	0.003163	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15444102	15444102	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:15444102G>A	ENST00000295297.4	+	3	829	c.570G>A	c.(568-570)ggG>ggA	p.G190G	C1QTNF7_ENST00000444304.2_Silent_p.G183G|C1QTNF7_ENST00000429690.1_Silent_p.G183G	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	183	C1q.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						CTGCCACAGGGAAGTTCATCT	0.438000													84	50					0	0	0.014410	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140750859	140750859	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140750859G>A	ENST00000576222.1	+	1	1029	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAAACGGGGGAACTCACCAC	0.443000													28	90					0	0	0.008361	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767262	77767262	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:77767262G>A	ENST00000521891.2	+	10	8553	c.8105G>A	c.(8104-8106)gGa>gAa	p.G2702E	ZFHX4_ENST00000518282.1_Missense_Mutation_p.G2676E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G2657E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G2657E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2657						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)			TGGAATGAAGGAAAGCAGGCA	0.488000										HNSCC(33;0.089)			10	25					0	0	0.006214	0	0
PHF21B	112885	broad.mit.edu	37	22	45283928	45283928	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:45283928G>A	ENST00000313237.5	-	10	1262	c.1112C>T	c.(1111-1113)cCg>cTg	p.P371L	PHF21B_ENST00000396103.3_Missense_Mutation_p.P329L|PHF21B_ENST00000447824.3_3'UTR|PHF21B_ENST00000404079.2_Missense_Mutation_p.P317L|PHF21B_ENST00000403565.1_Missense_Mutation_p.P167L	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	371							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GTAGGCCCCCGGGCAGGTGCC	0.677000													6	7					0	0	0.001984	0	0
GRIK2	2898	broad.mit.edu	37	6	102483362	102483362	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:102483362T>G	ENST00000369138.1	+	14	2722	c.2232T>G	c.(2230-2232)ttT>ttG	p.F744L	GRIK2_ENST00000421544.1_Missense_Mutation_p.F744L|GRIK2_ENST00000413795.1_Missense_Mutation_p.F744L|GRIK2_ENST00000318991.6_Missense_Mutation_p.F744L|GRIK2_ENST00000369134.4_Missense_Mutation_p.F695L|GRIK2_ENST00000369137.3_Missense_Mutation_p.F668L	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	744					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CCATCGAGTTTGTTACCCAGC	0.473000													48	153					0	0	0.014410	0	0
MKRN3	7681	broad.mit.edu	37	15	23811028	23811028	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:23811028C>T	ENST00000314520.3	+	1	575	c.99C>T	c.(97-99)ccC>ccT	p.P33P	MKRN3_ENST00000568252.1_Silent_p.P33P|MKRN3_ENST00000564592.1_Silent_p.P33P	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	33						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.P33P(1)		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)		CGGACCTTCCCGTCTGTGAGC	0.682000													9	23					0	0	0.004482	0	0
KIF5A	3798	broad.mit.edu	37	12	57969034	57969034	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:57969034C>T	ENST00000455537.2	+	16	2158	c.1884C>T	c.(1882-1884)tcC>tcT	p.S628S	KIF5A_ENST00000286452.5_Silent_p.S539S	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	628					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AGCTCTCATCCTGCCAGCTCC	0.542000													17	9					0	0	0.006122	0	0
PLB1	151056	broad.mit.edu	37	2	28761181	28761181	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:28761181C>T	ENST00000422425.2	+	10	628	c.584C>T	c.(583-585)tCa>tTa	p.S195L	PLB1_ENST00000327757.5_Intron	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	185	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTTCTCCTCTCACAGAATGGG	0.657000													7	18					0	0	0.013537	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68795677	68795677	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:68795677C>T	ENST00000508048.1	-	5	434	c.399G>A	c.(397-399)aaG>aaA	p.K133K	TMPRSS11A_ENST00000396188.2_Silent_p.K134K|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000334830.7_Silent_p.K137K			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	137	SEA.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TTTGGATTTTCTTCTCTCTTA	0.403000													10	42					0	0	0.013537	0	0
MUC16	94025	broad.mit.edu	37	19	9072091	9072091	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9072091G>A	ENST00000397910.4	-	3	15558	c.15355C>T	c.(15355-15357)Cct>Tct	p.P5119S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5121	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						TTTATAGAAGGAAAAATTTCC	0.453000													30	68					0	0	0.006320	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125879750	125879750	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:125879750C>T	ENST00000393434.2	-	2	422	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	ALDH1L1_ENST00000452905.2_Missense_Mutation_p.E25K|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.E25K|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.E25K|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.E35K|ALDH1L1_ENST00000455064.2_5'UTR	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	25	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCCACCACTTCGTGGCCCTCC	0.587000													25	54					0	0	0.005443	0	0
DCC	1630	broad.mit.edu	37	18	51053082	51053082	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:51053082C>T	ENST00000442544.2	+	28	4823	c.4207C>T	c.(4207-4209)Cct>Tct	p.P1403S	DCC_ENST00000581580.1_Missense_Mutation_p.P1036S|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1403					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCCAACAGCCCCTGAAGTGTC	0.502000													13	38					0	0	0.001855	0	0
HDGFRP3	50810	broad.mit.edu	37	15	83826717	83826717	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:83826717C>A	ENST00000299633.4	-	3	841	c.238G>T	c.(238-240)Gga>Tga	p.G80*		NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN		80					cell proliferation	nucleus	growth factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						TCGTTAAATCCTTTCCGTTTG	0.368000													9	26					2.17888e-05	2.36395e-05	0.006214	1	0
SKIL	6498	broad.mit.edu	37	3	170108192	170108192	+	Silent	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:170108192T>C	ENST00000458537.3	+	4	2320	c.1611T>C	c.(1609-1611)acT>acC	p.T537T	SKIL_ENST00000413427.2_Silent_p.T491T|SKIL_ENST00000259119.4_Silent_p.T537T|SKIL_ENST00000426052.2_Silent_p.T517T	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	537					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TAATGAGAACTTATTTAAAAC	0.343000													23	20					0	0	0.003954	0	0
WDR60	55112	broad.mit.edu	37	7	158718935	158718935	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:158718935C>T	ENST00000407559.3	+	18	2473	c.2315C>T	c.(2314-2316)tCa>tTa	p.S772L		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	772										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		GAACCTATCTCAACGTCCGTC	0.433000													8	10					0	0	0.008291	0	0
FAT2	2196	broad.mit.edu	37	5	150889622	150889622	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:150889622C>T	ENST00000261800.5	-	21	12031	c.12019G>A	c.(12019-12021)Gga>Aga	p.G4007R	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4007	EGF-like 2.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGAAGCTCCTTTGGGGGAG	0.542000													18	101					0	0	0.006122	0	0
ANK3	288	broad.mit.edu	37	10	61832650	61832650	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:61832650C>T	ENST00000280772.1	-	37	8180	c.7989G>A	c.(7987-7989)gaG>gaA	p.E2663E	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2663					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTGCCTTCTCCTCGGCCTTGG	0.547000													9	31					0	0	0.010729	0	0
CMA1	1215	broad.mit.edu	37	14	24975482	24975482	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:24975482C>T	ENST00000250378.3	-	4	381	c.352G>A	c.(352-354)Gag>Aag	p.E118K	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Missense_Mutation_p.E7K	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	118	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		CTGGCTTTCTCCTTCAACTGT	0.557000													6	32					0	0	0.006214	0	0
DNAH5	1767	broad.mit.edu	37	5	13727761	13727761	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:13727761G>A	ENST00000265104.4	-	70	11992	c.11888C>T	c.(11887-11889)tCg>tTg	p.S3963L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3963					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTCATTTCTCGATATCTGAAA	0.398000									Kartagener syndrome				11	24					0	0	0.013537	0	0
DSP	1832	broad.mit.edu	37	6	7579759	7579759	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:7579759C>T	ENST00000379802.3	+	23	3677	c.3336C>T	c.(3334-3336)acC>acT	p.T1112T	DSP_ENST00000418664.2_Silent_p.T1112T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1112	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGAAGATCACCCGACTGACTT	0.428000													16	45					0	0	0.003163	0	0
PDGFD	80310	broad.mit.edu	37	11	103870929	103870929	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:103870929C>T	ENST00000302251.5	-	2	612	c.161G>A	c.(160-162)gGa>gAa	p.G54E	PDGFD_ENST00000393158.2_Missense_Mutation_p.G60E	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	60	CUB.				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GTAGCCGTTTCCTTTCACCTG	0.478000													30	57					0	0	0.004289	0	0
CRIM1	51232	broad.mit.edu	37	2	36737231	36737231	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:36737231C>G	ENST00000280527.2	+	9	1974	c.1607C>G	c.(1606-1608)cCc>cGc	p.P536R		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	536					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CGCCCAAGGCCCAAGAAGTGC	0.443000													8	50					0	0	0.004482	0	0
BTN3A1	11119	broad.mit.edu	37	6	26408109	26408109	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:26408109G>A	ENST00000289361.6	+	4	1012	c.644G>A	c.(643-645)gGg>gAg	p.G215E	BTN3A1_ENST00000476549.2_Missense_Mutation_p.G215E|BTN3A1_ENST00000425234.2_Missense_Mutation_p.G215E|BTN3A1_ENST00000414912.2_Missense_Mutation_p.G163E	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	215	Ig-like V-type 2.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GGCAGCTCTGGGGAGGGTGTA	0.547000													33	87					0	0	0.003271	0	0
CTSE	1510	broad.mit.edu	37	1	206319208	206319208	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:206319208C>T	ENST00000361052.3	+	3	451	c.333C>T	c.(331-333)agC>agT	p.S111S	CTSE_ENST00000360218.2_Silent_p.S111S|CTSE_ENST00000358184.2_Silent_p.S111S|CTSE_ENST00000432969.2_Silent_p.S36S			P14091	CATE_HUMAN	cathepsin E	111					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			ACTGCACTAGCCCAGCCTGCA	0.592000													12	26					0	0	0.010729	0	0
FERMT1	55612	broad.mit.edu	37	20	6065781	6065781	+	Missense_Mutation	SNP	C	C	T	rs151300234		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:6065781C>T	ENST00000217289.4	-	12	2313	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	FERMT1_ENST00000478194.1_5'UTR|FERMT1_ENST00000536936.1_Missense_Mutation_p.E252K	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	509	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TCCATGTTTTCGAGACTGGAA	0.448000													27	55					0	0	0.012213	0	0
CILP2	148113	broad.mit.edu	37	19	19655245	19655245	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:19655245G>A	ENST00000586018.1	+	8	2011	c.1909G>A	c.(1909-1911)Gac>Aac	p.D637N	CILP2_ENST00000291495.4_Missense_Mutation_p.D631N			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	631						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CGTGGACAGCGACGGCGAGCT	0.726000													36	63					0	0	0.009718	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916478	42916478	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:42916478G>A	ENST00000316161.4	-	1	1155	c.831C>T	c.(829-831)ttC>ttT	p.F277F	KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron|CYP8B1_ENST00000437102.1_Silent_p.F277F	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	277					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		AGAGCATCATGAAGTTGAACT	0.582000													15	11					0	0	0.004007	0	0
UGT2A3	79799	broad.mit.edu	37	4	69796481	69796481	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:69796481G>A	ENST00000251566.4	-	5	1117	c.1087C>T	c.(1087-1089)Cat>Tat	p.H363Y	UGT2A3_ENST00000420231.2_Missense_Mutation_p.H74Y	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	363						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTTTTGGGATGACCTAGTATG	0.358000													8	7					0	0	0.003080	0	0
RNF24	11237	broad.mit.edu	37	20	3915673	3915673	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:3915673C>T	ENST00000336095.5	-	5	527	c.276G>A	c.(274-276)ggG>ggA	p.G92G	RNF24_ENST00000358395.6_Silent_p.G92G|RNF24_ENST00000545616.1_Silent_p.G113G|RNF24_ENST00000432261.2_Silent_p.G113G	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24	92						Golgi membrane|integral to membrane	zinc ion binding			large_intestine(1)|upper_aerodigestive_tract(1)	2						ATGGGCAAATCCCCAACTCAT	0.463000													7	45					0	0	0.004482	0	0
OR5H14	403273	broad.mit.edu	37	3	97868678	97868678	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:97868678T>C	ENST00000437310.1	+	1	509	c.449T>C	c.(448-450)gTa>gCa	p.V150A		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTGTCATATGTAGGTGGTCTT	0.378000													18	98					0	0	0.010504	0	0
VIPR2	7434	broad.mit.edu	37	7	158827297	158827297	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:158827297C>T	ENST00000262178.2	-	9	1039	c.854G>A	c.(853-855)cGa>cAa	p.R285Q	VIPR2_ENST00000377633.3_Missense_Mutation_p.R269Q|VIPR2_ENST00000402066.1_Missense_Mutation_p.R426Q	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	285					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		AATCGGTATTCGTATGACCCA	0.473000													14	50					0	0	0.006122	0	0
C10orf71	118461	broad.mit.edu	37	10	50531678	50531678	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:50531678G>A	ENST00000374144.3	+	3	1376	c.1088G>A	c.(1087-1089)gGa>gAa	p.G363E	C10orf71_ENST00000323868.4_Missense_Mutation_p.G363E			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	363										endometrium(1)	1						GCTGTGGAAGGAAAAGCTCCC	0.532000													10	38					0	0	0.008291	0	0
OR5M8	219484	broad.mit.edu	37	11	56258736	56258736	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:56258736C>T	ENST00000327216.2	-	1	135	c.111G>A	c.(109-111)acG>acA	p.T37T		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TCCCTGCCACCGTGACCATGT	0.522000													27	71					0	0	0.007291	0	0
EEF1E1	9521	broad.mit.edu	37	6	8097578	8097578	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:8097578G>A	ENST00000379715.5	-	2	266	c.210C>T	c.(208-210)atC>atT	p.I70I	EEF1E1-MUTED_ENST00000397456.2_Silent_p.I70I|EEF1E1_ENST00000429723.2_Silent_p.I70I|EEF1E1_ENST00000507463.1_Silent_p.I70I	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	70	GST C-terminal.				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					ACTGCTGAACGATTGCTTTTT	0.428000													36	107					0	0	0.005524	0	0
NRG1	3084	broad.mit.edu	37	8	32505638	32505638	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:32505638G>T	ENST00000520502.2	+	1	402	c.402G>T	c.(400-402)tgG>tgT	p.W134C	NRG1_ENST00000287840.5_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000341377.5_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	607					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CAGCTGTGTGGGTGTCGTCTG	0.498000													7	43					1.06961e-07	1.16509e-07	0.003080	1	0
PCLO	27445	broad.mit.edu	37	7	82451874	82451874	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82451874C>T	ENST00000423517.2	-	20	15065	c.14728G>A	c.(14728-14730)Gaa>Aaa	p.E4910K	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Missense_Mutation_p.E4910K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4772					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCTGCATCTTCCAGGTGGGTC	0.507000													52	141					0	0	0.014410	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717743	142717743	+	Silent	SNP	T	T	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:142717743T>G	ENST00000381779.4	-	2	1407	c.1182A>C	c.(1180-1182)gtA>gtC	p.V394V	SLITRK4_ENST00000356928.1_Silent_p.V394V|SLITRK4_ENST00000338017.4_Silent_p.V394V	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	394						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAGTCTGATACGTCCACAT	0.393000													43	21					0	0	0.013114	0	0
OBSCN	84033	broad.mit.edu	37	1	228433155	228433155	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:228433155G>A	ENST00000570156.2	+	13	3873	c.3799G>A	c.(3799-3801)Gag>Aag	p.E1267K	OBSCN_ENST00000422127.1_Missense_Mutation_p.E1175K|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E1175K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	229	Ig-like 13.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGTGCATAATGAGGTGCAGGC	0.587000													8	51					0	0	0.003080	0	0
RYR3	6263	broad.mit.edu	37	15	34129148	34129148	+	Silent	SNP	C	C	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:34129148C>G	ENST00000389232.4	+	88	11680	c.11610C>G	c.(11608-11610)ctC>ctG	p.L3870L	RYR3_ENST00000415757.3_Silent_p.L3865L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3870					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)		TCTTGGATCTCCTTCAGGACA	0.488000													7	15					0	0	0.003080	0	0
MAP3K15	389840	broad.mit.edu	37	X	19482366	19482366	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:19482366G>A	ENST00000338883.4	-	4	683	c.684C>T	c.(682-684)ttC>ttT	p.F228F	MAP3K15_ENST00000469203.2_Silent_p.F60F|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	228							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GGAGGCTAATGAACCTGTCCA	0.547000													31	11					0	0	0.003271	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675107	40675107	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:40675107C>T	ENST00000416151.2	+	1	186	c.71C>T	c.(70-72)tCc>tTc	p.S24F	KNSTRN_ENST00000448395.2_Missense_Mutation_p.S24F|KNSTRN_ENST00000249776.8_Missense_Mutation_p.S24F	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein									p.S24F(1)									GAGTGCGATTCCCACCCACTT	0.567000													23	14					0	0	0.014323	0	0
DIAPH1	1729	broad.mit.edu	37	5	140954623	140954623	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140954623C>T	ENST00000253811.6	-	15	1692	c.1552G>A	c.(1552-1554)Gga>Aga	p.G518R	DIAPH1_ENST00000518047.1_Missense_Mutation_p.G509R|DIAPH1_ENST00000520569.1_Missense_Mutation_p.G464R|DIAPH1_ENST00000389057.5_Missense_Mutation_p.G509R|DIAPH1_ENST00000398562.2_Missense_Mutation_p.G509R|DIAPH1_ENST00000398566.3_Missense_Mutation_p.G509R|DIAPH1_ENST00000389054.3_Missense_Mutation_p.G518R|DIAPH1_ENST00000398557.4_Missense_Mutation_p.G518R			O60610	DIAP1_HUMAN	diaphanous-related formin 1	518					regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTTTTCTCCCTGAAGATCT	0.458000													9	35					0	0	0.006214	0	0
FBXW4	6468	broad.mit.edu	37	10	103433355	103433355	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:103433355G>A	ENST00000331272.7	-	3	1050	c.432C>T	c.(430-432)ttC>ttT	p.F144F		NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	144					ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		CATCTGGACGGAACTGGTAGG	0.483000													7	41					0	0	0.001984	0	0
OR1E1	8387	broad.mit.edu	37	17	3300826	3300826	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:3300826C>T	ENST00000322608.2	-	1	878	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						TGTCTCTGTTCCTCAGGCTGT	0.438000													17	15					0	0	0.007413	0	0
SEMA3E	9723	broad.mit.edu	37	7	83029528	83029528	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:83029528G>A	ENST00000307792.3	-	11	1649	c.1182C>T	c.(1180-1182)acC>acT	p.T394T	SEMA3E_ENST00000427262.1_Silent_p.T334T	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	394	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GATAGTCCTTGGTGGTTCCGT	0.388000													19	100					0	0	0.014323	0	0
PLCZ1	89869	broad.mit.edu	37	12	18854641	18854641	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:18854641C>T	ENST00000266505.7	-	8	1197	c.934G>A	c.(934-936)Ggt>Agt	p.G312S	PLCZ1_ENST00000541695.1_Missense_Mutation_p.G175S|PLCZ1_ENST00000539875.1_Missense_Mutation_p.G119S|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000538330.1_Missense_Mutation_p.G53S|PLCZ1_ENST00000447925.2_Missense_Mutation_p.G310S|PLCZ1_ENST00000435379.1_Missense_Mutation_p.G117S			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	312					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTATCAGAACCTTTTCTTTCA	0.418000													6	6					0	0	0.003080	0	0
B4GALT1	2683	broad.mit.edu	37	9	33120558	33120558	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:33120558A>G	ENST00000379731.4	-	3	881	c.695T>C	c.(694-696)tTt>tCt	p.F232S	B4GALT1_ENST00000535206.1_Intron|B4GALT1_ENST00000541851.1_5'UTR	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	232					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane	alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	GGCTTCTTGAAAGCCAACATT	0.433000													19	26					0	0	0.010504	0	0
WIZ	58525	broad.mit.edu	37	19	15535061	15535061	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15535061G>A	ENST00000389282.4	-	9	4942	c.4729C>T	c.(4729-4731)Ctg>Ttg	p.L1577L	WIZ_ENST00000263381.6_Silent_p.L720L|WIZ_ENST00000599910.1_Silent_p.L894L|WIZ_ENST00000599686.2_Silent_p.L761L|WIZ_ENST00000545156.1_Silent_p.L891L			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1577						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						CGGGGCACCAGGGAGGGGACT	0.662000													12	23					0	0	0.002450	0	0
GBA3	57733	broad.mit.edu	37	4	22737782	22737782	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:22737782C>T	ENST00000503442.1	+	0	328				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCTCTCTTTCCTGGTCACGTC	0.438000													56	49					0	0	0.014410	0	0
BTNL3	10917	broad.mit.edu	37	5	180432455	180432455	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:180432455G>C	ENST00000342868.6	+	8	1168	c.984G>C	c.(982-984)aaG>aaC	p.K328N		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	328	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TTACAAGGAAGAGTGTGGTGG	0.517000													15	52					0	0	0.004007	0	0
DDC	1644	broad.mit.edu	37	7	50605602	50605602	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:50605602C>T	ENST00000444124.2	-	4	591	c.391G>A	c.(391-393)Gca>Aca	p.A131T	DDC_ENST00000489162.1_5'UTR|DDC_ENST00000357936.5_Missense_Mutation_p.A131T|DDC_ENST00000431062.1_Missense_Mutation_p.A131T|DDC_ENST00000380984.4_Missense_Mutation_p.A131T|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000426377.1_Intron	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	131	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TTCAAAAATGCCTTTGGTAGT	0.562000													14	61					0	0	0.006122	0	0
DOCK7	85440	broad.mit.edu	37	1	63024829	63024829	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:63024829G>A	ENST00000251157.5	-	20	2295	c.2262C>T	c.(2260-2262)gtC>gtT	p.V754V	DOCK7_ENST00000340370.5_Silent_p.V754V	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	754	DHR-1.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CCCCAATTCGGACTGGGAACA	0.393000													10	22					0	0	0.013537	0	0
SIM1	6492	broad.mit.edu	37	6	100897528	100897528	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:100897528G>A	ENST00000369208.3	-	5	1178	c.396C>T	c.(394-396)gaC>gaT	p.D132D	SIM1_ENST00000262901.4_Silent_p.D132D			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	132	PAS 1.				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)		TCTCGTCGTGGTCTGCCGGGT	0.592000													15	51					0	0	0.004007	0	0
PRKCI	5584	broad.mit.edu	37	3	169999030	169999030	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:169999030C>T	ENST00000295797.4	+	10	1264	c.959C>T	c.(958-960)tCt>tTt	p.S320F		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	320	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GGGCTGCATTCTTGCTTTCAG	0.383000													7	35					0	0	0.001984	0	0
FBXO10	26267	broad.mit.edu	37	9	37515999	37515999	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:37515999G>A	ENST00000432825.2	-	10	2646	c.2598C>T	c.(2596-2598)atC>atT	p.I866I	FBXO10_ENST00000541829.1_Silent_p.I391I|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	866						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CCTGGAAGATGATGTTTTCCT	0.522000													41	46					0	0	0.006230	0	0
PPP6C	5537	broad.mit.edu	37	9	127915938	127915938	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:127915938C>T	ENST00000451402.1	-	7	874	c.654G>A	c.(652-654)cgG>cgA	p.R218R	PPP6C_ENST00000373547.4_Silent_p.R181R|PPP6C_ENST00000415905.1_Silent_p.R159R|PPP6C_ENST00000373546.3_Silent_p.R34R	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	181					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TTTCCTGATTCCGTTCGATGG	0.428000													9	20					0	0	0.004482	0	0
RARS	5917	broad.mit.edu	37	5	167915660	167915660	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:167915660C>T	ENST00000231572.3	+	2	153	c.99C>T	c.(97-99)ggC>ggT	p.G33G	RARS_ENST00000538719.1_5'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	33	Could be involved in the assembly of the multisynthetase complex.				arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		AAAACTGTGGCTGTTTAGGAG	0.363000													8	23					0	0	0.003080	0	0
PROC	5624	broad.mit.edu	37	2	128183746	128183746	+	Silent	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:128183746A>G	ENST00000453608.2	+	6	794	c.786A>G	c.(784-786)caA>caG	p.Q262Q	PROC_ENST00000422777.3_Silent_p.Q207Q|PROC_ENST00000234071.3_Silent_p.Q207Q|PROC_ENST00000409048.1_Silent_p.Q241Q			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	207	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	AAGAAGACCAAGTAGATCCGC	0.612000													36	56					0	0	0.004289	0	0
LPPR4	9890	broad.mit.edu	37	1	99762394	99762394	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:99762394C>T	ENST00000370185.3	+	3	1006	c.509C>T	c.(508-510)tCc>tTc	p.S170F	LPPR4_ENST00000457765.1_Missense_Mutation_p.S170F	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		170							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AACTTCAATTCCTTCCTCAGA	0.393000													16	43					0	0	0.007413	0	0
CPN1	1369	broad.mit.edu	37	10	101816837	101816837	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:101816837G>A	ENST00000370418.3	-	6	1195	c.944C>T	c.(943-945)cCc>cTc	p.P315L		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	315	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CTCTTCGGGGGGAAACTTGTC	0.468000													42	126					0	0	0.014410	0	0
HIBADH	11112	broad.mit.edu	37	7	27570934	27570934	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:27570934G>A	ENST00000265395.2	-	7	935	c.729C>T	c.(727-729)atC>atT	p.I243I		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	243					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	TCATATTTAGGATTTTAGCCA	0.433000													160	378					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179424620	179424620	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179424620C>T	ENST00000589042.1	-	326	86463	c.86239G>A	c.(86239-86241)Gaa>Aaa	p.E28747K	TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E19682K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E19807K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E26179K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E19874K|TTN_ENST00000591111.1_Missense_Mutation_p.E27106K|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27106	Fibronectin type-III 109.						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)			TCTTCTCTTTCCTTTGCTATC	0.433000													25	61					0	0	0.003954	0	0
RHBDD3	25807	broad.mit.edu	37	22	29656822	29656822	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:29656822G>A	ENST00000216085.7	-	5	988	c.564C>T	c.(562-564)ccC>ccT	p.P188P		NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3	188						integral to membrane	serine-type endopeptidase activity			lung(1)|ovary(1)	2						GTCGCTCTGAGGGTTCCAGCC	0.701000													9	8					0	0	0.010729	0	0
SIRPG	55423	broad.mit.edu	37	20	1629899	1629899	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:1629899T>A	ENST00000381580.1	-	2	309	c.130A>T	c.(130-132)Atc>Ttc	p.I44F	SIRPG_ENST00000344103.4_Missense_Mutation_p.I77F|SIRPG_ENST00000216927.4_Missense_Mutation_p.I77F|SIRPG_ENST00000303415.3_Missense_Mutation_p.I77F|SIRPG_ENST00000381583.2_Missense_Mutation_p.I77F			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	77	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TGATTGTAGATTAATTCCCGG	0.512000													17	69					0	0	0.004990	0	0
ACAP2	23527	broad.mit.edu	37	3	195053811	195053811	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:195053811T>A	ENST00000326793.6	-	8	845	c.615A>T	c.(613-615)caA>caT	p.Q205H		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	205	BAR.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GATCATATCCTTGATGAAAGA	0.333000													13	57					0	0	0.004007	0	0
INADL	10207	broad.mit.edu	37	1	62550265	62550265	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:62550265C>T	ENST00000371158.2	+	33	4436	c.4322C>T	c.(4321-4323)tCc>tTc	p.S1441F	INADL_ENST00000543708.1_Missense_Mutation_p.S225F|INADL_ENST00000545929.1_Missense_Mutation_p.S114F|INADL_ENST00000316485.6_Missense_Mutation_p.S1441F	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1441	PDZ 8.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ATAGAAATATCCAAGGGACGT	0.458000													18	60					0	0	0.008871	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883939	19883939	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:19883939G>A	ENST00000300571.2	-	2	420	c.229C>T	c.(229-231)Ctc>Ttc	p.L77F	GPRC5B_ENST00000537135.1_Missense_Mutation_p.L103F|GPRC5B_ENST00000569479.1_Missense_Mutation_p.L77F|GPRC5B_ENST00000535671.1_Missense_Mutation_p.L77F|GPRC5B_ENST00000569847.1_Missense_Mutation_p.L77F	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	77										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						CGCACCAGGAGGATGAGCATC	0.637000													9	33					0	0	0.008291	0	0
PDHA2	5161	broad.mit.edu	37	4	96761419	96761419	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:96761419G>A	ENST00000295266.4	+	1	181	c.118G>A	c.(118-120)Gat>Aat	p.D40N		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	40					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TAAGAAATGTGATCTTTATCT	0.512000													8	9					0	0	0.003080	0	0
EXO5	64789	broad.mit.edu	37	1	40980261	40980261	+	Silent	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:40980261A>G	ENST00000372703.1	+	2	1119	c.45A>G	c.(43-45)tcA>tcG	p.S15S	EXO5_ENST00000471429.1_3'UTR|RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000358527.2_Silent_p.S15S|EXO5_ENST00000296380.4_Silent_p.S15S					exonuclease 5																		CAGAAGCCTCAGGGTTCTCAG	0.488000													30	79					0	0	0.013726	0	0
PSG6	5675	broad.mit.edu	37	19	43421897	43421897	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:43421897C>A	ENST00000187910.2	-	1	113	c.48G>T	c.(46-48)aaG>aaT	p.K16N	PSG6_ENST00000292125.2_Missense_Mutation_p.K16N|PSG6_ENST00000402603.4_Missense_Mutation_p.K16N|PSG6_ENST00000601833.1_Intron	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GCAGGAGCCCCTTCCAGGTGA	0.587000													34	75					2.87052e-16	3.14784e-16	0.005524	1	0
IGF2	3481	broad.mit.edu	37	11	2156695	2156695	+	Missense_Mutation	SNP	G	G	A	rs142012621		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:2156695G>A	ENST00000416167.2	-	2	1225	c.59C>T	c.(58-60)tCg>tTg	p.S20L	IGF2_ENST00000337883.6_Missense_Mutation_p.S20L|IGF2_ENST00000434045.2_Missense_Mutation_p.S76L|IGF2_ENST00000418738.2_Missense_Mutation_p.S20L|IGF2_ENST00000300632.5_Missense_Mutation_p.S20L|IGF2_ENST00000381406.4_Missense_Mutation_p.S20L|IGF2_ENST00000381389.1_Missense_Mutation_p.S20L|IGF2_ENST00000381395.1_Missense_Mutation_p.S20L|IGF2_ENST00000381392.1_Missense_Mutation_p.S20L			P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	20					glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		AATGCAGCACGAGGCGAAGGC	0.632000													11	30					0	0	0.013537	0	0
KRTAP5-2	440021	broad.mit.edu	37	11	1619005	1619005	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:1619005T>C	ENST00000412090.1	-	1	519	c.476A>G	c.(475-477)aAg>aGg	p.K159R	KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	159	6 X 4 AA repeats of C-C-X-P.					keratin filament				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCAACAGGGCTTGCAGCAGCT	0.587000													21	75					0	0	0.010504	0	0
SYT14	255928	broad.mit.edu	37	1	210334187	210334187	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:210334187C>T	ENST00000537238.1	+	9	1745	c.1354C>T	c.(1354-1356)Caa>Taa	p.Q452*	SYT14_ENST00000422431.1_Nonsense_Mutation_p.Q554*|SYT14_ENST00000399639.2_3'UTR|SYT14_ENST00000367015.1_Nonsense_Mutation_p.Q452*|SYT14_ENST00000472886.1_Nonsense_Mutation_p.Q490*|SYT14_ENST00000367019.1_Nonsense_Mutation_p.Q509*|SYT14_ENST00000534859.1_Nonsense_Mutation_p.Q516*|SYT14_ENST00000271745.7_3'UTR	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	490	C2 2.					integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TTTTGTCTTTCAAGTGGCCCT	0.413000													25	57					0	0	0.003954	0	0
NEB	4703	broad.mit.edu	37	2	152381753	152381753	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:152381753C>T	ENST00000397345.3	-	151	22398	c.22196G>A	c.(22195-22197)gGa>gAa	p.G7399E	NEB_ENST00000172853.10_Missense_Mutation_p.G5698E|NEB_ENST00000603639.1_Missense_Mutation_p.G7399E|NEB_ENST00000427231.2_Missense_Mutation_p.G7399E|NEB_ENST00000604864.1_Missense_Mutation_p.G7399E|NEB_ENST00000409198.1_Missense_Mutation_p.G5698E	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5698					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTTGGATTTTCCTTTCTCCTT	0.403000													28	47					0	0	0.009535	0	0
HARS	3035	broad.mit.edu	37	5	140062742	140062742	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140062742G>A	ENST00000504366.1	-	2	1855	c.36C>T	c.(34-36)atC>atT	p.I12I	HARS_ENST00000307633.3_Intron|HARS_ENST00000504156.1_Silent_p.I81I|HARS_ENST00000457527.2_Silent_p.I81I|HARS_ENST00000438307.2_Intron|HARS_ENST00000431330.2_Intron|HARS_ENST00000448240.1_5'UTR|HARS_ENST00000415192.2_Silent_p.I81I			P12081	SYHC_HUMAN	histidyl-tRNA synthetase	81	WHEP-TRS.				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	TGAAGCAACGGATGATTACGT	0.483000													13	38					0	0	0.001855	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48594704	48594704	+	Silent	SNP	G	G	A	rs79000284		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:48594704G>A	ENST00000323776.5	+	3	546	c.384G>A	c.(382-384)caG>caA	p.Q128Q	MYCBPAP_ENST00000436259.2_Silent_p.Q91Q	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	91					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TCATCACCCAGAAATTTATCA	0.458000													58	33					0	0	0.014410	0	0
RASGRF1	5923	broad.mit.edu	37	15	79320131	79320131	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:79320131C>T	ENST00000419573.3	-	9	1607	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K	RASGRF1_ENST00000558480.2_Missense_Mutation_p.E445K|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	445					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TCACAGCCTTCGATGATCATG	0.567000													41	47					0	0	0.009718	0	0
LILRA1	11024	broad.mit.edu	37	19	55106176	55106176	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55106176C>T	ENST00000453777.1	+	4	287	c.117C>T	c.(115-117)atC>atT	p.I39I	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Silent_p.I39I	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	39	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCTCTGTGATCACCCAGGGGA	0.542000													17	64					0	0	0.004007	0	0
SLC9C2	284525	broad.mit.edu	37	1	173495844	173495844	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:173495844C>T	ENST00000367714.3	-	19	2745	c.2323G>A	c.(2323-2325)Gaa>Aaa	p.E775K	SLC9C2_ENST00000536496.1_3'UTR|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	775					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TCCAAAATTTCACATAGTTTC	0.264000													15	34					0	0	0.004007	0	0
LRP8	7804	broad.mit.edu	37	1	53722919	53722919	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:53722919G>A	ENST00000306052.6	-	15	2528	c.2427C>T	c.(2425-2427)tcC>tcT	p.S809S	LRP8_ENST00000354412.3_Intron|LRP8_ENST00000460214.1_5'UTR|LRP8_ENST00000465675.1_Silent_p.S362S|LRP8_ENST00000347547.2_Silent_p.S639S|LRP8_ENST00000371454.2_Silent_p.S809S	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	809					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TACAGTGCTGGGAGTGGTTGC	0.552000													10	28					0	0	0.006214	0	0
DENND3	22898	broad.mit.edu	37	8	142186792	142186792	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:142186792G>A	ENST00000519811.1	+	15	2708	c.2638G>A	c.(2638-2640)Gag>Aag	p.E880K	DENND3_ENST00000262585.2_Missense_Mutation_p.E800K|DENND3_ENST00000424248.1_Missense_Mutation_p.E748K			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	800										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTGAAAACCGAGTGTGACCT	0.522000													27	53					0	0	0.006320	0	0
GLB1L2	89944	broad.mit.edu	37	11	134214955	134214955	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:134214955C>T	ENST00000535456.2	+	4	569	c.381C>T	c.(379-381)atC>atT	p.I127I	GLB1L2_ENST00000389881.3_Silent_p.I127I|GLB1L2_ENST00000339772.7_Silent_p.I127I	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	127					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CCGCAGAGATCGGGCTGTGGG	0.662000													7	25					0	0	0.003080	0	0
NEIL1	79661	broad.mit.edu	37	15	75641615	75641615	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:75641615G>A	ENST00000564784.1	+	3	998	c.369G>A	c.(367-369)tgG>tgA	p.W123*	NEIL1_ENST00000569035.1_Nonsense_Mutation_p.W123*|NEIL1_ENST00000567959.1_Intron|NEIL1_ENST00000355059.4_Nonsense_Mutation_p.W123*			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	123					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						TCGGCCGCTGGGACCTTGGGG	0.672000								Base excision repair (BER), DNA glycosylases					22	32					0	0	0.002780	0	0
FAM86B2	653333	broad.mit.edu	37	8	12285121	12285121	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:12285121G>A	ENST00000393715.3	-	3	487	c.253C>T	c.(253-255)Ccc>Tcc	p.P85S	FAM86B2_ENST00000262365.4_Intron|FAM86B2_ENST00000309608.5_Intron|FAM86B2_ENST00000351291.4_Intron			P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	0										endometrium(1)|kidney(2)	3						GTCCTGCAGGGACAGCTCGGG	0.632000													8	37					0	0	0.003080	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51630528	51630528	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:51630528G>A	ENST00000440804.3	+	4	1057	c.990G>A	c.(988-990)caG>caA	p.Q330Q	SIGLEC9_ENST00000250360.3_Silent_p.Q330Q	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	330	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GCTCTCAGCAGGTCTACCTGA	0.602000													5	27					0	0	0.000602	0	0
MUC16	94025	broad.mit.edu	37	19	9071371	9071371	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9071371G>A	ENST00000397910.4	-	3	16278	c.16075C>T	c.(16075-16077)Ccc>Tcc	p.P5359S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5361	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						GGAGAGGAGGGGATGCTCTGT	0.527000													29	43					0	0	0.005443	0	0
RYR2	6262	broad.mit.edu	37	1	237955551	237955551	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:237955551C>T	ENST00000366574.2	+	94	14027	c.13710C>T	c.(13708-13710)ccC>ccT	p.P4570P	RYR2_ENST00000542537.1_Silent_p.P4554P|RYR2_ENST00000360064.6_Silent_p.P4576P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4570					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)			ACATGGAGCCCACGTTGCGTA	0.463000													9	33					0	0	0.001855	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58850520	58850520	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:58850520C>A	ENST00000329665.4	+	3	1451	c.1304C>A	c.(1303-1305)cCa>cAa	p.P435Q		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	435					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GGAGAGAAGCCATATCAGTGT	0.562000													17	59					6.44725e-10	7.04444e-10	0.014323	1	0
SLC12A3	6559	broad.mit.edu	37	16	56916348	56916348	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:56916348C>T	ENST00000438926.2	+	13	1637	c.1608C>T	c.(1606-1608)ttC>ttT	p.F536F	SLC12A3_ENST00000566786.1_Silent_p.F535F|SLC12A3_ENST00000563236.1_Silent_p.F536F|SLC12A3_ENST00000262502.5_Silent_p.F535F	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	536					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CCAACTTCTTCCTCTGCTCCT	0.572000													15	51					0	0	0.004990	0	0
OR5B12	390191	broad.mit.edu	37	11	58207496	58207496	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:58207496C>T	ENST00000302572.2	-	1	150	c.129G>A	c.(127-129)atG>atA	p.M43I		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCAATTCAATCATCCCCAGGT	0.483000													12	32					0	0	0.013537	0	0
CATSPER4	378807	broad.mit.edu	37	1	26524783	26524783	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:26524783T>C	ENST00000456354.2	+	6	752	c.685T>C	c.(685-687)Tcc>Ccc	p.S229P		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	229					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGGTTTTTTCCGTGTTTGG	0.493000													133	270					0	0	0.014410	0	0
ZNF569	148266	broad.mit.edu	37	19	37904098	37904098	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:37904098G>A	ENST00000316950.6	-	6	2019	c.1462C>T	c.(1462-1464)Cat>Tat	p.H488Y	ZNF569_ENST00000392150.2_Missense_Mutation_p.H329Y|ZNF569_ENST00000392149.2_Missense_Mutation_p.H488Y	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCCAGAATGAATTTTTTCA	0.373000													9	24					0	0	0.006214	0	0
SYT10	341359	broad.mit.edu	37	12	33535419	33535419	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:33535419C>T	ENST00000228567.3	-	5	1531	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	SYT10_ENST00000535526.1_Missense_Mutation_p.R231Q	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	412	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTTTAATCTTCGACCTTCACA	0.343000													21	17					0	0	0.003330	0	0
ZNF558	148156	broad.mit.edu	37	19	8931947	8931947	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:8931947G>A	ENST00000601372.1	-	7	867	c.156C>T	c.(154-156)ttC>ttT	p.F52F	ZNF558_ENST00000444186.2_5'UTR|ZNF558_ENST00000301475.1_Silent_p.F52F			Q96NG5	ZN558_HUMAN	zinc finger protein 558	52	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CCTCCTGGGTGAACTCCACGG	0.572000													21	37					0	0	0.010504	0	0
TNC	3371	broad.mit.edu	37	9	117786291	117786291	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:117786291G>A	ENST00000350763.4	-	27	6867	c.6456C>T	c.(6454-6456)gtC>gtT	p.V2152V	TNC_ENST00000542877.1_Silent_p.V1789V|TNC_ENST00000340094.3_Silent_p.V1788V|TNC_ENST00000535648.1_Silent_p.V1697V|TNC_ENST00000345230.3_Silent_p.V1515V|TNC_ENST00000537320.1_Silent_p.V1515V|TNC_ENST00000346706.3_Silent_p.V1606V|TNC_ENST00000423613.2_Silent_p.V1879V|TNC_ENST00000341037.4_Silent_p.V1970V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2152	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCATCAGGTTGACACGGTGAC	0.547000													34	50					0	0	0.012213	0	0
HNF4A	3172	broad.mit.edu	37	20	43043289	43043289	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:43043289C>T	ENST00000316099.3	+	5	724	c.635C>T	c.(634-636)cCc>cTc	p.P212L	HNF4A_ENST00000443598.2_Missense_Mutation_p.P212L|HNF4A_ENST00000457232.1_Missense_Mutation_p.P190L|HNF4A_ENST00000415691.1_Missense_Mutation_p.P212L	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	212					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGCGAGCTCCCCCTGGACGAC	0.617000													55	118					0	0	0.014410	0	0
CHD5	26038	broad.mit.edu	37	1	6209413	6209413	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:6209413C>T	ENST00000262450.3	-	8	1153	c.1054G>A	c.(1054-1056)Ggt>Agt	p.G352S	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	352					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ATCTCCCCACCCTGCTGGCAC	0.597000													20	26					0	0	0.010504	0	0
KCNQ2	3785	broad.mit.edu	37	20	62046258	62046258	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:62046258T>C	ENST00000354587.3	-	11	1615	c.1439A>G	c.(1438-1440)gAa>gGa	p.E480G	KCNQ2_ENST00000360480.3_Missense_Mutation_p.E480G|KCNQ2_ENST00000344462.3_Missense_Mutation_p.E468G|KCNQ2_ENST00000370226.1_Missense_Mutation_p.E478G|KCNQ2_ENST00000359689.1_Missense_Mutation_p.E508G|KCNQ2_ENST00000357249.2_Missense_Mutation_p.E490G|KCNQ2_ENST00000370224.1_Missense_Mutation_p.E480G|KCNQ2_ENST00000370222.3_Missense_Mutation_p.E480G|KCNQ2_ENST00000430658.1_Missense_Mutation_p.E478G|KCNQ2_ENST00000359125.2_Missense_Mutation_p.E508G			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	508					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	ACACCCACCTTCTGAGTTCTG	0.662000													18	91					0	0	0.006122	0	0
THBS1	7057	broad.mit.edu	37	15	39879662	39879662	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:39879662G>A	ENST00000260356.5	+	8	1400	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	412	TSP type-1 1.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CTCAACAACCGATGTGAGGGC	0.577000													8	9					0	0	0.006214	0	0
NEB	4703	broad.mit.edu	37	2	152490409	152490409	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:152490409G>A	ENST00000397345.3	-	65	9375	c.9173C>T	c.(9172-9174)cCc>cTc	p.P3058L	NEB_ENST00000172853.10_Intron|NEB_ENST00000603639.1_Missense_Mutation_p.P3058L|NEB_ENST00000427231.2_Missense_Mutation_p.P3058L|NEB_ENST00000604864.1_Missense_Mutation_p.P3058L|NEB_ENST00000409198.1_Intron	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3058					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATCATCTTGGGGTCATCTTC	0.443000													24	136					0	0	0.004656	0	0
GRID2	2895	broad.mit.edu	37	4	94006276	94006276	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:94006276G>A	ENST00000282020.4	+	3	633	c.375G>A	c.(373-375)ggG>ggA	p.G125G	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	125					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)	CAACAGCTGGGACCCCAAGGA	0.557000													23	22					0	0	0.003330	0	0
AKR1B10	57016	broad.mit.edu	37	7	134217800	134217800	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:134217800C>T	ENST00000359579.4	+	4	716	c.396C>T	c.(394-396)atC>atT	p.I132I	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	132					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						GTAATGCCATCGGTGGAAAAG	0.463000													48	74					0	0	0.014410	0	0
MAGI2	9863	broad.mit.edu	37	7	77756673	77756673	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:77756673G>A	ENST00000354212.4	-	19	3517	c.3264C>T	c.(3262-3264)ttC>ttT	p.F1088F	MAGI2_ENST00000522391.1_Silent_p.F1088F|MAGI2_ENST00000419488.1_Silent_p.F1074F	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1088	Pro-rich.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGTAGTCTGTGAATGGAGGCT	0.537000													20	48					0	0	0.010504	0	0
F2	2147	broad.mit.edu	37	11	46747500	46747500	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:46747500G>A	ENST00000311907.5	+	7	707	c.651G>A	c.(649-651)cgG>cgA	p.R217R	F2_ENST00000530231.1_Silent_p.R217R	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	217	Kringle 2.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	TCCCTGATCGGGGGCAGCAGT	0.642000													14	43					0	0	0.001855	0	0
ARNT2	9915	broad.mit.edu	37	15	80855474	80855474	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:80855474C>T	ENST00000533983.1	+	13	1516	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C	ARNT2_ENST00000303329.4_Missense_Mutation_p.R404C|ARNT2_ENST00000527771.1_Missense_Mutation_p.R393C			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	404	PAS 2.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.R404C(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GTATCGATTTCGCACCAAGAA	0.493000													49	141					0	0	0.014410	0	0
LPHN2	23266	broad.mit.edu	37	1	82418681	82418681	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:82418681G>A	ENST00000370728.1	+	12	2438	c.1793G>A	c.(1792-1794)cGa>cAa	p.R598Q	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Intron|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.R598Q|LPHN2_ENST00000370721.1_Intron|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000370730.1_Missense_Mutation_p.R598Q|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000335786.5_Missense_Mutation_p.R598Q|LPHN2_ENST00000370715.1_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.R598Q|LPHN2_ENST00000370723.1_Intron|LPHN2_ENST00000271029.4_Missense_Mutation_p.R598Q|LPHN2_ENST00000370727.1_Missense_Mutation_p.R598Q			O95490	LPHN2_HUMAN	latrophilin 2	598					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTCCAAAAACGAGAGAAGACA	0.403000													14	29					0	0	0.004007	0	0
USH2A	7399	broad.mit.edu	37	1	215808041	215808041	+	Silent	SNP	C	C	T	rs144781528		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:215808041C>T	ENST00000366943.2	-	70	15443	c.15057G>A	c.(15055-15057)ttG>ttA	p.L5019L	USH2A_ENST00000307340.3_Silent_p.L5019L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5019					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)		TTGTTAGGACCAAGCCTGCAA	0.448000										HNSCC(13;0.011)			19	56					0	0	0.010504	0	0
SCN7A	6332	broad.mit.edu	37	2	167322339	167322339	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:167322339C>T	ENST00000409855.1	-	7	949	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	275					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						GTTTCATTTTCATTCTCTTGG	0.373000													11	75					0	0	0.001855	0	0
MYH13	8735	broad.mit.edu	37	17	10267715	10267715	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:10267715C>T	ENST00000418404.3	-	2	296	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	MYH13_ENST00000570743.1_Missense_Mutation_p.E45K|MYH13_ENST00000252172.4_Missense_Mutation_p.E45K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	45	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACATACATTTCCTTATTATCC	0.448000													4	9					0	0	0.009096	0	0
TBC1D5	9779	broad.mit.edu	37	3	17202633	17202633	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:17202633G>A	ENST00000253692.7	-	22	3874	c.2210C>T	c.(2209-2211)cCt>cTt	p.P737L	TBC1D5_ENST00000429383.4_Missense_Mutation_p.P737L|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.P759L	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	737						intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						GGTGCGAAGAGGCTGGGCCTG	0.592000													19	34					0	0	0.007413	0	0
RIC3	79608	broad.mit.edu	37	11	8132349	8132349	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:8132349C>T	ENST00000396677.2	-	3	519	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	RIC3_ENST00000343202.4_Missense_Mutation_p.E335K|RIC3_ENST00000539720.1_Missense_Mutation_p.E287K|RIC3_ENST00000309737.6_Missense_Mutation_p.E336K|RIC3_ENST00000425599.2_Missense_Mutation_p.E255K|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000335425.7_Missense_Mutation_p.E154K			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	336						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		GACCACTCTTCTTTGGTGGTT	0.488000													19	93					0	0	0.008871	0	0
SPINK4	27290	broad.mit.edu	37	9	33240224	33240224	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:33240224G>A	ENST00000379721.3	+	1	63	c.18G>A	c.(16-18)tgG>tgA	p.W6*	SPINK4_ENST00000379723.1_Intron|SPINK4_ENST00000379725.1_Intron	NM_014471.1	NP_055286.1	O60575	ISK4_HUMAN	serine peptidase inhibitor, Kazal type 4	6						extracellular region	serine-type endopeptidase inhibitor activity			lung(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			TCCGCCAGTGGGTAATCGCCC	0.607000													3	7					0	0	0.009096	0	0
DLG2	1740	broad.mit.edu	37	11	84028073	84028073	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:84028073C>T	ENST00000280241.8	-	1	115	c.116G>A	c.(115-117)aGg>aAg	p.R39K	DLG2_ENST00000398301.2_Missense_Mutation_p.R39K|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000543673.1_Intron	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CTGACAGTTCCTCTGCCAGCC	0.637000													17	102					0	0	0.007413	0	0
NALCN	259232	broad.mit.edu	37	13	101717769	101717769	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:101717769G>A	ENST00000251127.6	-	40	4672	c.4591C>T	c.(4591-4593)Cat>Tat	p.H1531Y		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1531						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGGACATCATGGAAGGTGACG	0.557000													37	47					0	0	0.006999	0	0
ADAM7	8756	broad.mit.edu	37	8	24346778	24346778	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:24346778C>T	ENST00000175238.6	+	12	1281	c.1198C>T	c.(1198-1200)Cat>Tat	p.H400Y	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.H172Y|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.H400Y	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	400					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTACAATTTTCATGATTTCCA	0.388000													9	31					0	0	0.006214	0	0
PKP2	5318	broad.mit.edu	37	12	32993999	32993999	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:32993999C>T	ENST00000340811.4	-	6	1627	c.1519G>A	c.(1519-1521)Gat>Aat	p.D507N	PKP2_ENST00000070846.6_Missense_Mutation_p.D551N	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	551					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ATGTCAAAATCGAGCAAACCA	0.438000													88	68					0	0	0.014410	0	0
CEP350	9857	broad.mit.edu	37	1	180065016	180065016	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:180065016C>T	ENST00000367607.3	+	35	9288	c.8870C>T	c.(8869-8871)gCc>gTc	p.A2957V	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2957						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CTTGGCTGTGCCAGTAAAGGT	0.363000													6	24					0	0	0.001168	0	0
AMPH	273	broad.mit.edu	37	7	38500990	38500990	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:38500990G>A	ENST00000356264.2	-	11	1125	c.910C>T	c.(910-912)Cca>Tca	p.P304S	AMPH_ENST00000428293.2_Missense_Mutation_p.P304S|AMPH_ENST00000325590.5_Missense_Mutation_p.P304S	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	304					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						GGTAGAGGTGGGACAGGAGGC	0.448000													42	84					0	0	0.014410	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986462	51986462	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:51986462G>T	ENST00000396477.4	+	4	886	c.865G>T	c.(865-867)Gag>Tag	p.E289*	CEACAM18_ENST00000451626.1_Nonsense_Mutation_p.E350*	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	350	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCTTGCCTGGGAGCAGATGGG	0.542000													35	59					4.3181e-19	4.74218e-19	0.013726	1	0
COL5A1	1289	broad.mit.edu	37	9	137697046	137697046	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:137697046C>T	ENST00000371817.3	+	41	3658	c.3244C>T	c.(3244-3246)Cca>Tca	p.P1082S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1082	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCCCCCTGGCCCACCAGGCCC	0.597000													11	55					0	0	0.001855	0	0
BTNL8	79908	broad.mit.edu	37	5	180338455	180338455	+	Missense_Mutation	SNP	G	G	A	rs144589226		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:180338455G>A	ENST00000231229.4	+	3	748	c.514G>A	c.(514-516)Gga>Aga	p.G172R	BTNL8_ENST00000505126.1_5'UTR|BTNL8_ENST00000400707.3_Missense_Mutation_p.G47R|BTNL8_ENST00000340184.4_Missense_Mutation_p.G172R|BTNL8_ENST00000533815.2_5'UTR|BTNL8_ENST00000511704.1_Missense_Mutation_p.G56R|BTNL8_ENST00000508408.1_Missense_Mutation_p.G172R	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	172	Ig-like V-type 2.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGTCCACAAGGACAGGATTT	0.532000													27	90					0	0	0.007291	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12812265	12812265	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:12812265A>T	ENST00000379672.5	+	4	550	c.250A>T	c.(250-252)Atc>Ttc	p.I84F	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.I84F|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.I84F	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	84	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GGGGTCAGCTATCCTGGGAGA	0.458000													71	64					0	0	0.014410	0	0
PPP1R3B	79660	broad.mit.edu	37	8	8999144	8999144	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:8999144G>A	ENST00000310455.3	-	2	168	c.18C>T	c.(16-18)atC>atT	p.I6I	RP11-10A14.3_ENST00000520017.1_RNA|PPP1R3B_ENST00000519699.1_Silent_p.I6I|RP11-10A14.3_ENST00000522057.1_RNA	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	6					glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		ATCTGTACTCGATGTCCACAG	0.483000													12	14					0	0	0.001855	0	0
PDP1	54704	broad.mit.edu	37	8	94935465	94935465	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:94935465C>T	ENST00000396200.3	+	3	1529	c.1253C>T	c.(1252-1254)cCt>cTt	p.P418L	PDP1_ENST00000297598.4_Missense_Mutation_p.P393L|PDP1_ENST00000520728.1_Missense_Mutation_p.P393L|PDP1_ENST00000517764.1_Missense_Mutation_p.P393L	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	393					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						CACACACCTCCTTATCTCACT	0.443000													19	84					0	0	0.008871	0	0
TTN	7273	broad.mit.edu	37	2	179497712	179497712	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179497712C>T	ENST00000589042.1	-	234	43370	c.43146G>A	c.(43144-43146)ctG>ctA	p.L14382L	TTN_ENST00000460472.2_Silent_p.L5317L|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.L5442L|TTN_ENST00000342992.6_Silent_p.L11814L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.L5509L|TTN_ENST00000591111.1_Silent_p.L12741L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12741							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)			CTGTCATACCCAGCTGACAGT	0.423000													39	55					0	0	0.004878	0	0
LARGE	9215	broad.mit.edu	37	22	33733769	33733769	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:33733769G>A	ENST00000354992.2	-	11	1721	c.1150C>T	c.(1150-1152)Ccc>Tcc	p.P384S	LARGE_ENST00000402320.1_Intron|LARGE_ENST00000437602.2_Missense_Mutation_p.P384S|LARGE_ENST00000452586.2_Missense_Mutation_p.P183S|LARGE_ENST00000397394.2_Missense_Mutation_p.P384S|LARGE_ENST00000337431.2_Intron	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	384					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	p.P384S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				AGCTTCTTGGGGGAGTTCCAG	0.552000													8	30					0	0	0.004482	0	0
CCDC39	339829	broad.mit.edu	37	3	180377491	180377491	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:180377491C>T	ENST00000273654.4	-	11	1454	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	CCDC39_ENST00000442201.2_Missense_Mutation_p.E195K			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	195					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCTGTAAGTTCGTTGTCAAGT	0.308000													19	52					0	0	0.012319	0	0
MYH1	4619	broad.mit.edu	37	17	10412913	10412913	+	Silent	SNP	G	G	A	rs141597159		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:10412913G>A	ENST00000226207.5	-	15	1570	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	492	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.F492F(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGTGGTGGTTGAAAAACTGTT	0.443000													35	24					0	0	0.003755	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338463	13338463	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:13338463G>A	ENST00000602906.1	+	0	448																				kidney(3)|lung(1)	4						TTTTTAGGCTGGCGCAGACAT	0.448000													9	8					0	0	0.006214	0	0
ZPLD1	131368	broad.mit.edu	37	3	102153992	102153992	+	Translation_Start_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:102153992G>A	ENST00000466937.1	+	0	116				ZPLD1_ENST00000491959.1_Intron|ZPLD1_ENST00000306176.1_Missense_Mutation_p.D12N			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1							integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CAGGGGAAATGATGAAGGTAA	0.368000													9	23					0	0	0.010729	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40630587	40630587	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:40630587C>T	ENST00000343619.4	+	7	736	c.613C>T	c.(613-615)Ccc>Tcc	p.P205S	ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.P212S|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.P205S|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.P205S|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.P162S|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.P162S	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	205					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		AATCGAGAACCCCCTGGAGGA	0.552000													16	20					0	0	0.006122	0	0
SEMA6C	10500	broad.mit.edu	37	1	151110475	151110475	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:151110475G>A	ENST00000341697.3	-	9	2345	c.654C>T	c.(652-654)tcC>tcT	p.S218S				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	218	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAGCCACTTGGAGTCATACT	0.617000													19	37					0	0	0.008871	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51630295	51630295	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:51630295G>A	ENST00000440804.3	+	4	824	c.757G>A	c.(757-759)Gtc>Atc	p.V253I	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.V253I	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	253	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AGTATCCACAGTCTTGGGAAA	0.502000													29	59					0	0	0.012213	0	0
DPP3	10072	broad.mit.edu	37	11	66254077	66254077	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:66254077C>T	ENST00000532677.1	+	4	885	c.484C>T	c.(484-486)Ctc>Ttc	p.L162F	DPP3_ENST00000453114.1_Missense_Mutation_p.L143F|DPP3_ENST00000531863.1_Missense_Mutation_p.L163F|DPP3_ENST00000360510.2_Missense_Mutation_p.L143F|DPP3_ENST00000530165.1_Missense_Mutation_p.L113F|DPP3_ENST00000541961.1_Missense_Mutation_p.L143F	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	143					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						AGTCAGGGGCCTCTGGCAGAC	0.617000													28	57					0	0	0.005443	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517124	140517124	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140517124C>T	ENST00000231134.5	+	1	2325	c.2108C>T	c.(2107-2109)tCg>tTg	p.S703L		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		703					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCTCTTTTCGGTGCTCCTG	0.701000													22	65					0	0	0.012319	0	0
SLC2A2	6514	broad.mit.edu	37	3	170716153	170716153	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:170716153C>T	ENST00000314251.3	-	10	1282	c.1203G>A	c.(1201-1203)atG>atA	p.M401I	SLC2A2_ENST00000382808.4_Missense_Mutation_p.M282I	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	401					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			AGATGGCTATCATGCTCACAT	0.443000													6	36					0	0	0.001168	0	0
EPHA7	2045	broad.mit.edu	37	6	93965749	93965749	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:93965749C>T	ENST00000369303.4	-	13	2363	c.2179G>A	c.(2179-2181)Gat>Aat	p.D727N		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	727	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AATTGCCCATCATGTTTCTGC	0.393000													14	20					0	0	0.001855	0	0
CD1B	910	broad.mit.edu	37	1	158299729	158299729	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158299729C>T	ENST00000368168.3	-	3	627	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	174					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CTCACAGTTTCCATGATACCT	0.468000													35	64					0	0	0.003271	0	0
DICER1	23405	broad.mit.edu	37	14	95570178	95570178	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:95570178G>A	ENST00000526495.1	-	23	3846	c.3555C>T	c.(3553-3555)gcC>gcT	p.A1185A	DICER1_ENST00000343455.3_Silent_p.A1185A|DICER1_ENST00000556045.1_Silent_p.A83A|DICER1_ENST00000393063.1_Silent_p.A1185A|DICER1_ENST00000541352.1_Silent_p.A1185A|DICER1_ENST00000527414.1_Silent_p.A1185A			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1185					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AACTGCCATTGGCGAGATTTT	0.423000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				28	38					0	0	0.007291	0	0
OR13C3	138803	broad.mit.edu	37	9	107298474	107298474	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:107298474G>A	ENST00000374781.2	-	1	663	c.621C>T	c.(619-621)ttC>ttT	p.F207F		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TTTCACATGCGAAATGATTGA	0.428000													25	45					0	0	0.005443	0	0
GNA11	2767	broad.mit.edu	37	19	3119228	3119228	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:3119228C>T	ENST00000078429.4	+	6	1002	c.760C>T	c.(760-762)Ctg>Ttg	p.L254L	AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	254					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GAGCAAAGCCCTGTTCCGGAC	0.612000			Mis		uveal melanoma								7	63					0	0	0.004482	0	0
CPNE5	57699	broad.mit.edu	37	6	36742771	36742771	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:36742771G>A	ENST00000244751.2	-	10	1328	c.704C>T	c.(703-705)cCc>cTc	p.P235L		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	235	C2 2.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGCTCTCACGGGAATGGAGAA	0.517000													7	25					0	0	0.003080	0	0
GRM3	2913	broad.mit.edu	37	7	86468384	86468384	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:86468384G>A	ENST00000361669.2	+	4	2653	c.1554G>A	c.(1552-1554)atG>atA	p.M518I	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.M110I|GRM3_ENST00000536043.1_Missense_Mutation_p.M390I	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	518					synaptic transmission	integral to plasma membrane		p.M518I(1)		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)	CCAATGAAATGAAGAATATGC	0.522000													16	44					0	0	0.003163	0	0
TMEM252	169693	broad.mit.edu	37	9	71152396	71152396	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:71152396G>A	ENST00000377311.3	-	2	344	c.292C>T	c.(292-294)Cct>Tct	p.P98S		NM_153237.1	NP_694969.1			transmembrane protein 252																		TAAGCTGGAGGGTAAAAGTCT	0.507000													18	20					0	0	0.007413	0	0
SRC	6714	broad.mit.edu	37	20	36028682	36028682	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:36028682G>A	ENST00000373578.2	+	10	1373	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	SRC_ENST00000445403.1_Missense_Mutation_p.E342K|SRC_ENST00000373558.2_Missense_Mutation_p.E348K|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000360723.4_Missense_Mutation_p.E348K|SRC_ENST00000358208.4_Missense_Mutation_p.E342K|SRC_ENST00000373567.2_Missense_Mutation_p.E342K	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	342	Protein kinase.				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	CATCGTCACGGAGTACATGAG	0.592000													8	23					0	0	0.010729	0	0
TADA1	117143	broad.mit.edu	37	1	166831521	166831521	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:166831521C>T	ENST00000367874.4	-	5	552	c.459G>A	c.(457-459)ggG>ggA	p.G153G	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	153					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						CTATCATTCTCCCTTCAAGCT	0.507000													27	64					0	0	0.007291	0	0
PPP3R2	5535	broad.mit.edu	37	9	104356750	104356750	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:104356750C>T	ENST00000374806.1	-	1	533	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	152	EF-hand 4.						calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	GCACTGAATTCCTCAAAGGAT	0.507000													14	49					0	0	0.001855	0	0
ATP2A2	488	broad.mit.edu	37	12	110782764	110782764	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:110782764C>T	ENST00000395494.2	+	16	3077	c.2514C>T	c.(2512-2514)tcC>tcT	p.S838S	ATP2A2_ENST00000308664.6_Silent_p.S865S|ATP2A2_ENST00000539276.2_Silent_p.S865S			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	865			A -> P (in DD; severe form; petit mal epilepsy).		ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CAAGAGTGTCCTTCTACCAGC	0.502000													43	22					0	0	0.011902	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058366	152058366	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152058366C>T	ENST00000368806.1	-	3	1856	c.1792G>A	c.(1792-1794)Gga>Aga	p.G598R		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	598							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CCAGGTGTTCCCTGCCTCTGG	0.552000													52	90					0	0	0.014410	0	0
AFF2	2334	broad.mit.edu	37	X	148037391	148037391	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:148037391G>A	ENST00000370460.2	+	11	2295	c.1816G>A	c.(1816-1818)Gaa>Aaa	p.E606K	AFF2_ENST00000342251.3_Missense_Mutation_p.E573K|AFF2_ENST00000286437.5_Missense_Mutation_p.E247K|AFF2_ENST00000370457.5_Missense_Mutation_p.E573K	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	606					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAAAATTCCAGAAACAAAGGC	0.468000													47	20					0	0	0.014410	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596740	24596740	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:24596740G>A	ENST00000535378.1	-	4	777	c.135C>T	c.(133-135)gtC>gtT	p.V45V	KIAA0319_ENST00000537886.1_Silent_p.V54V|KIAA0319_ENST00000378214.3_Silent_p.V54V|KIAA0319_ENST00000543707.1_Silent_p.V54V|KIAA0319_ENST00000430948.2_Silent_p.V9V	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	54	MANSC.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TGCAGTCTACGACAGGGAAGG	0.577000													15	33					0	0	0.003163	0	0
MYOM2	9172	broad.mit.edu	37	8	2007281	2007281	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:2007281G>C	ENST00000262113.4	+	6	709	c.568G>C	c.(568-570)Gat>Cat	p.D190H	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	190	Ig-like C2-type 1.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TAGGTACAAAGATGGCAGTCT	0.507000													10	34					0	0	0.006214	0	0
ACP6	51205	broad.mit.edu	37	1	147122015	147122015	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:147122015G>A	ENST00000369238.5	-	8	1355	c.908C>T	c.(907-909)cCa>cTa	p.P303L	ACP6_ENST00000460583.1_5'UTR	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	303					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					GTGGAGGAATGGGCCTACTGC	0.537000													17	27					0	0	0.004990	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217443	150217443	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:150217443G>A	ENST00000313543.4	+	2	538	c.381G>A	c.(379-381)atG>atA	p.M127I		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	127							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGAAGCACATGGTCATCTTGT	0.512000													8	40					0	0	0.004482	0	0
TAT	6898	broad.mit.edu	37	16	71606461	71606461	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:71606461C>T	ENST00000355962.4	-	5	672	c.539G>A	c.(538-540)gGa>gAa	p.G180E	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	180					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	GACCTCAATTCCCATAGACTC	0.388000													14	32					0	0	0.002450	0	0
SEC31B	25956	broad.mit.edu	37	10	102257790	102257790	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:102257790G>A	ENST00000370345.3	-	15	1956	c.1859C>T	c.(1858-1860)tCc>tTc	p.S620F		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	620					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AGTTACCGAGGAGATTTTGGT	0.527000													17	29					0	0	0.004990	0	0
PARP4	143	broad.mit.edu	37	13	25009566	25009566	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:25009566C>T	ENST00000381989.3	-	31	3818	c.3713G>A	c.(3712-3714)cGa>cAa	p.R1238Q		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1238					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CCTATGTTTTCGTTTGGATAA	0.373000													10	47					0	0	0.006214	0	0
TG	7038	broad.mit.edu	37	8	133935696	133935696	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:133935696G>T	ENST00000220616.4	+	22	4682	c.4642G>T	c.(4642-4644)Ggg>Tgg	p.G1548W	TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1548	Thyroglobulin type-1 11.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGACGGCGAGGGGCGGAGGCT	0.597000													15	42					7.05477e-17	7.74056e-17	0.004990	1	0
PTPRB	5787	broad.mit.edu	37	12	70963486	70963486	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:70963486C>T	ENST00000334414.6	-	14	3647	c.3603G>A	c.(3601-3603)ctG>ctA	p.L1201L	PTPRB_ENST00000451516.2_Silent_p.L893L|PTPRB_ENST00000550358.1_Silent_p.L1113L|PTPRB_ENST00000551525.1_Silent_p.L1200L|PTPRB_ENST00000261266.5_Silent_p.L983L|PTPRB_ENST00000550857.1_Silent_p.L893L|PTPRB_ENST00000538708.1_Silent_p.L983L	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	983	Fibronectin type-III 14.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCTGATTCTTCAGGGACCCGC	0.517000													29	11					0	0	0.007291	0	0
DPYD	1806	broad.mit.edu	37	1	98348842	98348842	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:98348842C>T	ENST00000370192.3	-	2	228	c.128G>A	c.(127-129)aGa>aAa	p.R43K	DPYD_ENST00000306031.5_Missense_Mutation_p.R43K|DPYD_ENST00000423006.2_Intron	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	43					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ATCAGGATTTCTTTTCCAATG	0.383000													11	32					0	0	0.002450	0	0
CREB3L3	84699	broad.mit.edu	37	19	4157233	4157233	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:4157233C>T	ENST00000078445.2	+	3	545	c.398C>T	c.(397-399)tCc>tTc	p.S133F	CREB3L3_ENST00000602147.1_Missense_Mutation_p.S133F|CREB3L3_ENST00000602257.1_Missense_Mutation_p.S133F|CREB3L3_ENST00000595923.1_Missense_Mutation_p.S132F|CREB3L3_ENST00000252587.3_Missense_Mutation_p.S123F	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	133					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		AACTCTTGCTCCACCACAACC	0.642000													23	64					0	0	0.003954	0	0
P2RY1	5028	broad.mit.edu	37	3	152553639	152553639	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:152553639C>T	ENST00000305097.3	+	1	904	c.68C>T	c.(67-69)tCg>tTg	p.S23L		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	23					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GGTCCGGGTTCGTCCTGGGGG	0.657000													11	35					0	0	0.008291	0	0
TLR7	51284	broad.mit.edu	37	X	12905587	12905587	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:12905587G>A	ENST00000380659.3	+	3	2099	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	654					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AAAATTAGAGGAATTAGACAT	0.348000													45	24					0	0	0.010771	0	0
PPFIA2	8499	broad.mit.edu	37	12	81678083	81678083	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:81678083C>T	ENST00000550584.2	-	24	3221		c.e24-1		PPFIA2_ENST00000548586.1_Splice_Site|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000541570.2_Intron|PPFIA2_ENST00000550359.2_Splice_Site|PPFIA2_ENST00000549396.1_Splice_Site|PPFIA2_ENST00000552948.1_Intron|PPFIA2_ENST00000549325.1_Splice_Site|PPFIA2_ENST00000443686.3_Splice_Site|PPFIA2_ENST00000333447.7_Splice_Site|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000407050.4_Intron|PPFIA2_ENST00000545296.2_Intron	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2											NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGCCTGAAGGCTAGTGAGGAG	0.473000													9	7					0	0	0.008291	0	0
CACNG3	10368	broad.mit.edu	37	16	24268270	24268270	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:24268270G>A	ENST00000005284.3	+	1	1397	c.195G>A	c.(193-195)agG>agA	p.R65R		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	65					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GGCTGTGGAGGACCTGCTGCC	0.428000													9	27					0	0	0.008291	0	0
COL4A1	1282	broad.mit.edu	37	13	110827673	110827673	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:110827673G>A	ENST00000375820.4	-	37	3211	c.3090C>T	c.(3088-3090)atC>atT	p.I1030I		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1030	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GTGGGCCAGGGATGCCAGGCA	0.512000													20	26					0	0	0.008871	0	0
LRRC8C	84230	broad.mit.edu	37	1	90178523	90178523	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:90178523C>T	ENST00000370454.4	+	3	649	c.394C>T	c.(394-396)Ctc>Ttc	p.L132F	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	132						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TTACCTTGTCCTCATCCATAC	0.443000													16	86					0	0	0.003163	0	0
BMS1	9790	broad.mit.edu	37	10	43319084	43319084	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:43319084C>T	ENST00000374518.4	+	21	3371	c.3308C>T	c.(3307-3309)cCt>cTt	p.P1103L		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1103					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ACTTGGTATCCTGTTTCCATC	0.408000													6	27					0	0	0.004482	0	0
PTGS1	5742	broad.mit.edu	37	9	125140749	125140749	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:125140749C>T	ENST00000362012.2	+	4	254	c.249C>T	c.(247-249)ccC>ccT	p.P83P	PTGS1_ENST00000540753.1_Silent_p.P58P|PTGS1_ENST00000373698.5_5'UTR|PTGS1_ENST00000223423.4_Silent_p.P83P	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	83					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	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			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CACTGCGGCCCAGCCCCTCTT	0.597000													32	81					0	0	0.013726	0	0
PRLR	5618	broad.mit.edu	37	5	35066041	35066041	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:35066041G>A	ENST00000382002.5	-	10	1445	c.1019C>T	c.(1018-1020)cCc>cTc	p.P340L	PRLR_ENST00000310101.5_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.P239L|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.P239L	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	340					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CAGGTATGTGGGTTTCATACC	0.493000													5	45					0	0	0.001984	0	0
ITGB3	3690	broad.mit.edu	37	17	45376679	45376679	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:45376679G>A	ENST00000560629.1	+	11	1661	c.1661G>A	c.(1660-1662)tGg>tAg	p.W554*	ITGB3_ENST00000559488.1_Missense_Mutation_p.G566S|ITGB3_ENST00000435993.2_Missense_Mutation_p.G519S			P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	0	Cysteine-rich tandem repeats.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	TTCAGGCCATGGCCAGTGCAG	0.607000													35	21					0	0	0.003755	0	0
MIR329-1	574408	broad.mit.edu	37	14	101493194	101493194	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:101493194C>T	ENST00000385028.1	+	0	73					NR_029967.1																						AACCTCTTTTCCAGTATCAAA	0.463000													21	45					0	0	0.010504	0	0
RYR1	6261	broad.mit.edu	37	19	39018290	39018290	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:39018290G>A	ENST00000355481.4	+	72	10806	c.10675G>A	c.(10675-10677)Gaa>Aaa	p.E3559K	RYR1_ENST00000359596.3_Missense_Mutation_p.E3564K|RYR1_ENST00000360985.3_Missense_Mutation_p.E3564K|AC067969.1_ENST00000597015.1_RNA	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3564					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCTTCAGGTCGAAGGCTCCCC	0.642000													13	31					0	0	0.004007	0	0
TBC1D8	11138	broad.mit.edu	37	2	101655105	101655105	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:101655105C>T	ENST00000409318.1	-	7	1223	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K	TBC1D8_ENST00000376840.4_Missense_Mutation_p.E350K	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	350					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TCCATCTTCTCGATGCTCACC	0.557000													15	56					0	0	0.004990	0	0
KIAA1217	56243	broad.mit.edu	37	10	24802349	24802349	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:24802349C>T	ENST00000376451.2	+	5	1472	c.1212C>T	c.(1210-1212)atC>atT	p.I404I	KIAA1217_ENST00000396446.1_Silent_p.I404I|KIAA1217_ENST00000307544.6_Silent_p.I404I|KIAA1217_ENST00000430453.2_Silent_p.I607I|KIAA1217_ENST00000376454.3_Silent_p.I721I|KIAA1217_ENST00000396445.1_Silent_p.I404I|KIAA1217_ENST00000458595.1_Silent_p.I686I|KIAA1217_ENST00000376462.1_Silent_p.I641I|KIAA1217_ENST00000376452.3_Silent_p.I686I			Q5T5P2	SKT_HUMAN	KIAA1217	721					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAGAGAAGATCGTCAAGAAGT	0.463000											OREG0020076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	23					0	0	0.003080	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39109260	39109260	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:39109260G>A	ENST00000297668.6	-	15	2335	c.2262C>T	c.(2260-2262)tcC>tcT	p.S754S	CNTNAP3_ENST00000358144.2_Silent_p.S666S|CNTNAP3_ENST00000377656.2_Silent_p.S753S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	754	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GCTCCTTTTGGGAAAGGACTA	0.463000													4	16					0	0	0.009096	0	0
VSTM4	196740	broad.mit.edu	37	10	50255039	50255039	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:50255039T>A	ENST00000332853.3	-	7	849	c.826A>T	c.(826-828)Aaa>Taa	p.K276*		NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	276						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						AGCGTGACTTTTCTCTGTGGT	0.448000													52	141					0	0	0.014410	0	0
IGHV1-2	28474	broad.mit.edu	37	14	106452752	106452752	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:106452752G>A	ENST00000390594.2	-	0	333																											ACGTGTCCCTGGTCATGGTGA	0.552000													36	123					0	0	0.003755	0	0
SLC25A34	284723	broad.mit.edu	37	1	16063167	16063167	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:16063167G>A	ENST00000294454.5	+	1	268	c.187G>A	c.(187-189)Gca>Aca	p.A63T	RP11-288I21.1_ENST00000453804.1_RNA	NM_207348.1	NP_997231.1	Q6PIV7	S2534_HUMAN	solute carrier family 25, member 34	63					transport	integral to membrane|mitochondrial inner membrane				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGGCCCGAGCAGACGGGCT	0.662000													7	26					0	0	0.003080	0	0
LY96	23643	broad.mit.edu	37	8	74922261	74922261	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:74922261C>T	ENST00000284818.2	+	3	319	c.228C>T	c.(226-228)ttC>ttT	p.F76F	LY96_ENST00000518893.1_Silent_p.F46F	NM_015364.4	NP_056179.3	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	76					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			AATTATATTTCAATCTCTATA	0.323000													13	40					0	0	0.013537	0	0
SH3BGR	6450	broad.mit.edu	37	21	40847111	40847111	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:40847111C>T	ENST00000333634.4	+	3	549	c.471C>T	c.(469-471)ttC>ttT	p.F157F	SH3BGR_ENST00000458295.1_Silent_p.F46F|SH3BGR_ENST00000380631.1_Silent_p.F46F|SH3BGR_ENST00000380634.1_Silent_p.F46F|SH3BGR_ENST00000380637.3_Silent_p.F46F	NM_007341.2	NP_031367.1	P55822	SH3BG_HUMAN	SH3 domain binding glutamic acid-rich protein	157					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		TTTATTCCTTCCTTGGTTTGG	0.378000													9	17					0	0	0.008291	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889980	23889980	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:23889980C>T	ENST00000532292.1	-	1	1195	c.1101G>A	c.(1099-1101)tgG>tgA	p.W367*		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		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;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TCGGGCCCTCCCAGGCACTCA	0.662000													4	18					0	0	0.009096	0	0
NUBP2	10101	broad.mit.edu	37	16	1836800	1836800	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:1836800C>T	ENST00000262302.9	+	3	298	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C	NUBP2_ENST00000565987.1_5'UTR|NUBP2_ENST00000565134.1_Missense_Mutation_p.R60C|NUBP2_ENST00000568706.1_Intron|NUBP2_ENST00000543305.1_Intron	NM_012225.2	NP_036357.1	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2	60						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						CAGTATCCCCCGCATGCTCGG	0.701000													3	22					0	0	0.009096	0	0
HNF4G	3174	broad.mit.edu	37	8	76471140	76471140	+	Silent	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:76471140A>C	ENST00000396423.2	+	8	1085	c.961A>C	c.(961-963)Agg>Cgg	p.R321R	HNF4G_ENST00000354370.1_Silent_p.R284R	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	284					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CTCCCGGGGGAGGTTTGGAGA	0.448000													12	73					0	0	0.001855	0	0
LRP4	4038	broad.mit.edu	37	11	46897410	46897410	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:46897410C>T	ENST00000378623.1	-	26	3886	c.3644G>A	c.(3643-3645)gGa>gAa	p.G1215E		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1215					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CACAGTCAGTCCATTGGGCCA	0.602000													11	27					0	0	0.010729	0	0
VCAM1	7412	broad.mit.edu	37	1	101185425	101185425	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:101185425G>A	ENST00000294728.2	+	1	110	c.9G>A	c.(7-9)ggG>ggA	p.G3G	VCAM1_ENST00000347652.2_Silent_p.G3G|VCAM1_ENST00000370119.4_Silent_p.G3G|VCAM1_ENST00000370115.1_Silent_p.G3G	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	3					heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AAATGCCTGGGAAGATGGTCG	0.413000													10	38					0	0	0.013537	0	0
OR10S1	219873	broad.mit.edu	37	11	123847434	123847434	+	Missense_Mutation	SNP	C	C	T	rs146618461		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:123847434C>T	ENST00000531945.1	-	1	1054	c.965G>A	c.(964-966)cGa>cAa	p.R322Q		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	322					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		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)		TGTAGACTCTCGGAAGCTGCT	0.468000													17	23					0	0	0.004990	0	0
MRPL1	65008	broad.mit.edu	37	4	78873665	78873665	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:78873665C>T	ENST00000315567.8	+	9	1211	c.882C>T	c.(880-882)ttC>ttT	p.F294F		NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	294							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						TACGTGCTTTCCTTCGTAGTT	0.358000													5	23					0	0	0.001984	0	0
HCN3	57657	broad.mit.edu	37	1	155255658	155255658	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:155255658C>T	ENST00000368358.3	+	6	1388	c.1380C>T	c.(1378-1380)tcC>tcT	p.S460S	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	460						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTGAGGGCTCCGTGGGGAGGA	0.637000													38	87					0	0	0.006999	0	0
ASIC3	9311	broad.mit.edu	37	7	150746440	150746440	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:150746440C>T	ENST00000357922.4	+	1	1062	c.468C>T	c.(466-468)tcC>tcT	p.S156S	ASIC3_ENST00000297512.8_Silent_p.S156S|ASIC3_ENST00000349064.5_Silent_p.S156S	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	156					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										CTGGGCACTCCCTGGATGACA	0.657000													16	52					0	0	0.004990	0	0
MARC2	54996	broad.mit.edu	37	1	220935159	220935159	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:220935159C>T	ENST00000366913.3	+	3	804	c.606C>T	c.(604-606)ttC>ttT	p.F202F	MARC2_ENST00000359316.2_Silent_p.F202F	NM_017898.3	NP_060368.2	Q969Z3	MOSC2_HUMAN	mitochondrial amidoxime reducing component 2	202	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding	p.F202F(1)									ATCAGAATTTCCAGGTGAGCT	0.428000													16	62					0	0	0.004990	0	0
FBLIM1	54751	broad.mit.edu	37	1	16095027	16095027	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:16095027C>A	ENST00000375766.3	+	5	1083	c.443C>A	c.(442-444)cCa>cAa	p.P148Q	FBLIM1_ENST00000375771.1_Missense_Mutation_p.P148Q|FBLIM1_ENST00000332305.5_Intron|FBLIM1_ENST00000400773.1_Intron|FBLIM1_ENST00000441801.2_Missense_Mutation_p.P148Q	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	148	Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CCACAGGCCCCAGCGGAGGGA	0.632000													18	29					4.96729e-08	5.41363e-08	0.008871	1	0
THBS1	7057	broad.mit.edu	37	15	39874870	39874870	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:39874870C>T	ENST00000260356.5	+	3	709	c.544C>T	c.(544-546)Ccc>Tcc	p.P182S		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	182	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GTTGGACGTCCCCATCCAAAG	0.562000													9	19					0	0	0.008291	0	0
CD2	914	broad.mit.edu	37	1	117297327	117297327	+	Missense_Mutation	SNP	C	C	T	rs142374557	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:117297327C>T	ENST00000369478.3	+	2	244	c.136C>T	c.(136-138)Cct>Tct	p.P46S	CD2_ENST00000369477.1_Missense_Mutation_p.P46S	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	46	Ig-like V-type.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CTTGGACATTCCTAGTTTTCA	0.378000													21	39					0	0	0.014323	0	0
DSG3	1830	broad.mit.edu	37	18	29052370	29052370	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:29052370C>T	ENST00000257189.4	+	13	2104	c.2021C>T	c.(2020-2022)gCc>gTc	p.A674V		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	674					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATTGAAGGAGCCCATCCTGAA	0.418000													13	32					0	0	0.013537	0	0
VASP	7408	broad.mit.edu	37	19	46021280	46021280	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:46021280C>T	ENST00000245932.6	+	3	627	c.271C>T	c.(271-273)Ctc>Ttc	p.L91F	VASP_ENST00000586619.1_3'UTR	NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	91	WH1.				axon guidance|cell junction assembly|T cell receptor signaling pathway	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	actin binding|profilin binding|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		GGTCTGGGGCCTCAACTTCGG	0.637000													15	47					0	0	0.006122	0	0
DDX10	1662	broad.mit.edu	37	11	108577504	108577504	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:108577504C>T	ENST00000526794.1	+	10	1294	c.1262C>T	c.(1261-1263)cCc>cTc	p.P421L	DDX10_ENST00000322536.3_Missense_Mutation_p.P421L			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	421	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		ATTTTGCTACCCTCAGAAAAA	0.343000			T	NUP98	AML*								19	110					0	0	0.012319	0	0
TP53	7157	broad.mit.edu	37	17	7578453	7578453	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:7578453G>A	ENST00000420246.2	-	5	609	c.477C>T	c.(475-477)gcC>gcT	p.A159A	TP53_ENST00000359597.4_Silent_p.A159A|TP53_ENST00000413465.2_Silent_p.A159A|TP53_ENST00000455263.2_Silent_p.A159A|TP53_ENST00000269305.4_Silent_p.A159A|TP53_ENST00000445888.2_Silent_p.A159A	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	159	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.A159A(8)|p.R158fs(6)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.R26fs(2)|p.R65fs(2)|p.V157fs*9(2)|p.V157_C176del20(1)|p.T155_A161delTRVRAMA(1)|p.R156_A161delRVRAMA(1)|p.R156fs*18(1)|p.R156fs*20(1)|p.P151_V173del23(1)|p.V157_M160delVRAM(1)|p.V157_I162delVRAMAI(1)|p.R158fs*11(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(1)|p.R156_A161del(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)		AGATGGCCATGGCGCGGACGC	0.632000		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)			19	27					0	0	0.012319	0	0
OR4N4	283694	broad.mit.edu	37	15	22383336	22383336	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:22383336C>T	ENST00000328795.4	+	1	955	c.864C>T	c.(862-864)acC>acT	p.T288T	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		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)		TGATTTATACCCTTCGCAACC	0.403000													22	44					0	0	0.012319	0	0
LRRC7	57554	broad.mit.edu	37	1	70488881	70488881	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:70488881G>A	ENST00000310961.5	+	18	1937	c.1519G>A	c.(1519-1521)Gat>Aat	p.D507N	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.D502N|LRRC7_ENST00000415775.2_Intron			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	502						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACTGTCTGGCGATTGCTGCAC	0.572000													17	39					0	0	0.004990	0	0
CES4A	283848	broad.mit.edu	37	16	67038103	67038103	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:67038103G>A	ENST00000540947.2	+	9	1240	c.1056G>A	c.(1054-1056)ctG>ctA	p.L352L	CES4A_ENST00000541479.1_Silent_p.L375L|CES4A_ENST00000540579.1_Silent_p.L254L|CES4A_ENST00000338718.4_Silent_p.L375L|CES4A_ENST00000535696.1_Silent_p.L258L|CES4A_ENST00000326686.5_Silent_p.L352L|CES4A_ENST00000398354.1_Silent_p.L352L	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN	carboxylesterase 4A	352						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						TCAACAACCTGGAATTCAATT	0.512000													23	72					0	0	0.003330	0	0
CILP2	148113	broad.mit.edu	37	19	19656520	19656520	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:19656520G>A	ENST00000586018.1	+	8	3286	c.3184G>A	c.(3184-3186)Ggc>Agc	p.G1062S	CILP2_ENST00000291495.4_Missense_Mutation_p.G1056S			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	1056						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						AGACCCTCTGGGCCACAACTA	0.637000													4	20					0	0	0.000602	0	0
ACKR4	51554	broad.mit.edu	37	3	132319397	132319397	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:132319397C>T	ENST00000249887.2	+	2	252	c.156C>T	c.(154-156)ttC>ttT	p.F52F	ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000355458.3_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1			atypical chemokine receptor 4																		CAATAGTTTTCGTCATTGGAC	0.383000													6	24					0	0	0.001984	0	0
TJP3	27134	broad.mit.edu	37	19	3728436	3728436	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:3728436G>A	ENST00000541714.2	+	2	468	c.6G>A	c.(4-6)gaG>gaA	p.E2E	TJP3_ENST00000382008.3_Silent_p.E2E|TJP3_ENST00000589378.1_Silent_p.E11E|TJP3_ENST00000587686.1_Silent_p.E21E|TJP3_ENST00000539908.2_Intron|TJP3_ENST00000262968.9_Silent_p.E21E	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	2						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGACATGGAGGAGCTGACCA	0.637000													6	22					0	0	0.001984	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555043	44555043	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:44555043C>T	ENST00000330682.2	-	1	1406	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	391	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CTCCATAATTCATCTGTCTCT	0.572000													13	682					0	0	0.003163	0	0
NPAP1	23742	broad.mit.edu	37	15	24922969	24922969	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:24922969C>T	ENST00000329468.2	+	1	2429	c.1955C>T	c.(1954-1956)cCt>cTt	p.P652L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TTTGAGGCTCCTGATGGGCAG	0.502000													14	42					0	0	0.001855	0	0
ABCA13	154664	broad.mit.edu	37	7	48273745	48273745	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:48273745G>A	ENST00000435803.1	+	8	918	c.894G>A	c.(892-894)aaG>aaA	p.K298K		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	298					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTGAACTGAAGGAGGTACACA	0.527000													49	50					0	0	0.014410	0	0
GDF2	2658	broad.mit.edu	37	10	48414222	48414222	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:48414222G>A	ENST00000249598.1	-	2	805	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	216					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GAGTCGGACCGGACCCAGCGC	0.587000													13	38					0	0	0.004990	0	0
GSTA2	2939	broad.mit.edu	37	6	52617747	52617747	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:52617747G>A	ENST00000493422.1	-	5	474	c.319C>T	c.(319-321)Ctt>Ttt	p.L107F		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	107	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	GGCAGAAGAAGGATCATTTCA	0.368000													49	95					0	0	0.014410	0	0
ARAP1	116985	broad.mit.edu	37	11	72437979	72437979	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:72437979G>A	ENST00000359373.5	-	3	1046	c.195C>T	c.(193-195)ctC>ctT	p.L65L	ARAP1_ENST00000455638.2_Silent_p.L65L|ARAP1_ENST00000393609.3_Silent_p.L65L			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	65	SAM.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TATGGGCACGGAGCAGGCCAG	0.687000													81	148					0	0	0.014410	0	0
AFF2	2334	broad.mit.edu	37	X	147743594	147743594	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:147743594C>T	ENST00000370460.2	+	3	825	c.346C>T	c.(346-348)Cca>Tca	p.P116S	AFF2_ENST00000370458.1_Missense_Mutation_p.P112S|AFF2_ENST00000342251.3_Missense_Mutation_p.P112S|AFF2_ENST00000370457.5_Missense_Mutation_p.P112S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	116					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCTTTTTTCCAGAACAAAA	0.393000													94	51					0	0	0.014410	0	0
CCDC170	80129	broad.mit.edu	37	6	151914339	151914339	+	Missense_Mutation	SNP	G	G	A	rs139998977	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:151914339G>A	ENST00000367290.5	+	8	1480	c.1391G>A	c.(1390-1392)cGa>cAa	p.R464Q	CCDC170_ENST00000239374.7_Missense_Mutation_p.R464Q			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	464																	GTTTTAGCTCGAACAGAGCAG	0.448000													18	29					0	0	0.007413	0	0
PRNT	149830	broad.mit.edu	37	20	4713232	4713232	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:4713232G>A	ENST00000326539.2	-	2	1028	c.91C>T	c.(91-93)Ccc>Tcc	p.P31S	PRNT_ENST00000418528.1_Missense_Mutation_p.P31S|PRNT_ENST00000423718.2_Missense_Mutation_p.P31S																endometrium(2)|lung(5)	7						ctagagaagggaagtctgaaa	0.443000													10	14					0	0	0.010729	0	0
ZNF662	389114	broad.mit.edu	37	3	42949559	42949559	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:42949559G>A	ENST00000328199.6	+	2	322	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000541208.1_5'UTR|ZNF662_ENST00000422021.1_5'UTR|ZNF662_ENST00000440367.2_5'UTR	NM_001134656.1	NP_001128128.1	Q6ZS27	ZN662_HUMAN	zinc finger protein 662	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CTCTGAGAACGAATGGATCGG	0.552000													6	40					0	0	0.001984	0	0
TNXB	7148	broad.mit.edu	37	6	32010358	32010358	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:32010358C>T	ENST00000375244.3	-	40	12285	c.12084G>A	c.(12082-12084)agG>agA	p.R4028R	TNXB_ENST00000451343.1_Silent_p.R457R|TNXB_ENST00000375247.2_Silent_p.R4026R			P22105	TENX_HUMAN	tenascin XB	4073	Fibronectin type-III 32.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCCGCAGTCCCTGGGGAAGG	0.682000													44	173					0	0	0.014410	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325752	79325752	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:79325752C>T	ENST00000428286.1	-	8	1561	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	PRUNE2_ENST00000376718.3_Missense_Mutation_p.E480K			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	480					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CATGCATGTTCCTCCGCCACC	0.597000													8	15					0	0	0.008291	0	0
CAGE1	285782	broad.mit.edu	37	6	7355324	7355324	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:7355324G>A	ENST00000502583.1	-	11	2883	c.2319C>T	c.(2317-2319)atC>atT	p.I773I	CAGE1_ENST00000338150.4_Silent_p.I738I|CAGE1_ENST00000512086.1_Silent_p.I711I|CAGE1_ENST00000296742.7_Silent_p.I575I|CAGE1_ENST00000379918.4_Silent_p.I751I	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	711										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					CACATTCAATGATTTCTTCAT	0.289000													22	60					0	0	0.003954	0	0
SULF1	23213	broad.mit.edu	37	8	70517057	70517057	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:70517057G>A	ENST00000260128.4	+	13	1984	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	SULF1_ENST00000419716.3_Missense_Mutation_p.E423K|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.E423K|SULF1_ENST00000458141.2_Missense_Mutation_p.E423K	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	423					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ACGTAAGAAGGAAGAATCCAG	0.433000													18	38					0	0	0.007413	0	0
ZP4	57829	broad.mit.edu	37	1	238048545	238048545	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:238048545G>A	ENST00000366570.4	-	9	1389	c.1231C>T	c.(1231-1233)Ccc>Tcc	p.P411S	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	411	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGGTGAGAGGGAAATGGAAGA	0.542000													16	44					0	0	0.003163	0	0
VWC2L	402117	broad.mit.edu	37	2	215279299	215279299	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:215279299G>A	ENST00000312504.5	+	2	1184	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000427124.1_Missense_Mutation_p.E128K	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	128	VWFC 2.					extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						AATCTTGGAGGAATTTAAGGT	0.353000													5	27					0	0	0.000602	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52147157	52147157	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:52147157G>A	ENST00000360844.6	-	5	928	c.887C>T	c.(886-888)tCc>tTc	p.S296F	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	296	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGAGGTCTGGGAAGGATTGAG	0.617000													5	61					0	0	0.001168	0	0
MUC16	94025	broad.mit.edu	37	19	9089986	9089986	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9089986G>A	ENST00000397910.4	-	1	2032	c.1829C>T	c.(1828-1830)tCa>tTa	p.S610L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	610	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						TCCTGTCATTGAAATCCCAGT	0.537000													14	31					0	0	0.003163	0	0
PTPN7	5778	broad.mit.edu	37	1	202123389	202123389	+	Silent	SNP	C	C	T	rs147405290		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:202123389C>T	ENST00000309017.3	-	6	1619	c.846G>A	c.(844-846)tcG>tcA	p.S282S	PTPN7_ENST00000367279.4_Silent_p.S216S|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000308986.5_Silent_p.S177S|PTPN7_ENST00000543735.1_Silent_p.S6S|PTPN7_ENST00000544762.1_Intron	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	177	Tyrosine-protein phosphatase.					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						CCCAGAAGTCCGACACAGTGT	0.592000													15	33					0	0	0.004007	0	0
LIF	3976	broad.mit.edu	37	22	30640036	30640036	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:30640036C>T	ENST00000403987.3	-	2	77	c.34G>A	c.(34-36)Gga>Aga	p.G12R	LIF_ENST00000249075.3_Silent_p.G71G	NM_001257135.1	NP_001244064.1	P15018	LIF_HUMAN	leukemia inhibitory factor	7					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			GGAACGGCTCCCCCTGggctg	0.647000													13	17					0	0	0.003163	0	0
THSD7B	80731	broad.mit.edu	37	2	137988647	137988647	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:137988647C>A	ENST00000409968.1	+	8	1935	c.1757C>A	c.(1756-1758)cCc>cAc	p.P586H	THSD7B_ENST00000272643.3_Missense_Mutation_p.P586H|THSD7B_ENST00000413152.2_Missense_Mutation_p.P555H|THSD7B_ENST00000543459.1_Intron					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)		TGCCCAGTTCCCCCTCCTCCT	0.473000													8	27					0.000274275	0.000296823	0.004482	1	0
DOCK11	139818	broad.mit.edu	37	X	117718740	117718740	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:117718740G>A	ENST00000276204.6	+	15	1712	c.1638G>A	c.(1636-1638)ggG>ggA	p.G546G	DOCK11_ENST00000276202.7_Silent_p.G546G|DOCK11_ENST00000498252.1_3'UTR			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	546					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ATCTGGATGGGAGATTTTCTC	0.338000													33	15					0	0	0.013726	0	0
GPX5	2880	broad.mit.edu	37	6	28501788	28501788	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:28501788C>T	ENST00000412168.2	+	5	599	c.510C>T	c.(508-510)tcC>tcT	p.S170S	GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	170					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	AATCTATATCCTGGGACCCTG	0.493000													53	122					0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9071723	9071723	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9071723G>A	ENST00000397910.4	-	3	15926	c.15723C>T	c.(15721-15723)tcC>tcT	p.S5241S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5243	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						GTGGCACTGTGGACTTATCAT	0.478000													38	74					0	0	0.006230	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072779	17072779	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:17072779C>T	ENST00000359963.3	-	1	921	c.662G>A	c.(661-663)gGg>gAg	p.G221E		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	221					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TATTGCTAACCCCGGGAGGAG	0.592000													20	77					0	0	0.014323	0	0
PRSS12	8492	broad.mit.edu	37	4	119256771	119256771	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:119256771C>T	ENST00000296498.3	-	3	959	c.677G>A	c.(676-678)gGa>gAa	p.G226E		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	226	SRCR 1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AAGGCCCAGTCCAGAAAACGG	0.403000													25	22					0	0	0.007291	0	0
GSTM2	2946	broad.mit.edu	37	1	110212119	110212119	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:110212119C>T	ENST00000369831.2	+	5	380	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	GSTM2_ENST00000241337.4_Missense_Mutation_p.R96C|GSTM2_ENST00000369827.3_Missense_Mutation_p.R94C|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000442650.1_Missense_Mutation_p.R96C|GSTM2_ENST00000460717.3_Missense_Mutation_p.R96C|GSTM2_ENST00000464206.1_Intron|GSTM2_ENST00000369829.2_Missense_Mutation_p.R96C					glutathione S-transferase mu 2 (muscle)											kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)		GGAGCAGATTCGCGAAGACAT	0.562000													17	29					0	0	0.006122	0	0
DNAH10	196385	broad.mit.edu	37	12	124319972	124319972	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:124319972G>A	ENST00000409039.3	+	27	4470	c.4445G>A	c.(4444-4446)aGa>aAa	p.R1482K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1482	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R74I(1)|p.R1482I(1)		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)		TTGGTTCAGAGAAAATGGATG	0.378000													7	2					0	0	0.004482	0	0
OR1F1	4992	broad.mit.edu	37	16	3254555	3254555	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:3254555C>T	ENST00000304646.2	+	1	309	c.309C>T	c.(307-309)ttC>ttT	p.F103F	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						AGATGTATTTCGTTTTCATGT	0.493000													34	110					0	0	0.006230	0	0
SERPINB7	8710	broad.mit.edu	37	18	61468132	61468132	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:61468132G>A	ENST00000398019.2	+	7	955	c.630G>A	c.(628-630)caG>caA	p.Q210Q	SERPINB7_ENST00000336429.2_Silent_p.Q210Q|SERPINB7_ENST00000540675.1_Silent_p.Q193Q|SERPINB7_ENST00000546027.1_Silent_p.Q210Q	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	210					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TGATGCATCAGGAACGGAAGT	0.393000													26	53					0	0	0.008361	0	0
TGM4	7047	broad.mit.edu	37	3	44945376	44945376	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:44945376G>A	ENST00000296125.4	+	9	1040	c.971_splice	c.e9-1	p.W324_splice		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	324					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TTTGCGGCAGGAATTTCCATG	0.597000													52	97					0	0	0.014410	0	0
NEB	4703	broad.mit.edu	37	2	152527697	152527697	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:152527697C>T	ENST00000397345.3	-	38	4548	c.4346G>A	c.(4345-4347)tGg>tAg	p.W1449*	NEB_ENST00000172853.10_Nonsense_Mutation_p.W1449*|NEB_ENST00000603639.1_Nonsense_Mutation_p.W1449*|NEB_ENST00000427231.2_Nonsense_Mutation_p.W1449*|NEB_ENST00000604864.1_Nonsense_Mutation_p.W1449*|NEB_ENST00000409198.1_Nonsense_Mutation_p.W1449*	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1449					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AATAGGGATCCATCCGATGCC	0.443000													9	18					0	0	0.008291	0	0
BTN2A2	10385	broad.mit.edu	37	6	26392647	26392647	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:26392647C>T	ENST00000356709.4	+	8	1135	c.1024C>T	c.(1024-1026)Ctg>Ttg	p.L342L	BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000416795.2_Silent_p.L342L|BTN2A2_ENST00000482536.1_Silent_p.L132L|BTN2A2_ENST00000352867.2_Silent_p.L226L|BTN2A2_ENST00000469230.1_Intron	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	342	B30.2/SPRY.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CGAGCTCTTCCTGTCAGAGGA	0.587000													22	49					0	0	0.012319	0	0
NELL1	4745	broad.mit.edu	37	11	21250883	21250883	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:21250883G>A	ENST00000298925.5	+	15	1669	c.1516G>A	c.(1516-1518)Gat>Aat	p.D506N	NELL1_ENST00000357134.5_Missense_Mutation_p.D478N|NELL1_ENST00000325319.5_Missense_Mutation_p.D421N|NELL1_ENST00000532434.1_Missense_Mutation_p.D478N			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	478	EGF-like 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AACAGAACACGATGAATGTGG	0.463000													6	18					0	0	0.001984	0	0
SLC25A34	284723	broad.mit.edu	37	1	16063165	16063165	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:16063165G>A	ENST00000294454.5	+	1	266	c.185G>A	c.(184-186)cGa>cAa	p.R62Q	RP11-288I21.1_ENST00000453804.1_RNA	NM_207348.1	NP_997231.1	Q6PIV7	S2534_HUMAN	solute carrier family 25, member 34	62					transport	integral to membrane|mitochondrial inner membrane				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGTGGCCCGAGCAGACGGG	0.662000													7	25					0	0	0.003080	0	0
GLI1	2735	broad.mit.edu	37	12	57865069	57865069	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:57865069C>T	ENST00000228682.2	+	12	2637	c.2546C>T	c.(2545-2547)tCc>tTc	p.S849F	GLI1_ENST00000546141.1_Missense_Mutation_p.S808F|GLI1_ENST00000543426.1_Missense_Mutation_p.S721F	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	849					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CCTCTCTTTTCCCATTACCCC	0.617000													5	34					0	0	0.001168	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64602854	64602854	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:64602854C>T	ENST00000342711.5	-	16	1917	c.1918G>A	c.(1918-1920)Gag>Aag	p.E640K		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	640					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CGGTTTTCCTCCTGCAGCTGG	0.667000													83	236					0	0	0.014410	0	0
GPSM1	26086	broad.mit.edu	37	9	139232392	139232392	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:139232392C>T	ENST00000440944.1	+	6	1012	c.792C>T	c.(790-792)cgC>cgT	p.R264R	GPSM1_ENST00000392945.3_Silent_p.R264R	NM_001145638.1	NP_001139110.1	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	264	Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		TCCTGGGGCGCTTTGACGTGG	0.647000													11	29					0	0	0.010729	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73149396	73149396	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:73149396G>A	ENST00000286657.4	-	22	3111	c.3075C>T	c.(3073-3075)tcC>tcT	p.S1025S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1025	PLAC.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GACAGAATATGGACTTGTCTC	0.368000													14	25					0	0	0.003163	0	0
GSTA5	221357	broad.mit.edu	37	6	52699038	52699038	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:52699038C>T	ENST00000370989.1	-	5	473	c.315G>A	c.(313-315)atG>atA	p.M105I	GSTA5_ENST00000284562.2_Missense_Mutation_p.M105I|GSTA5_ENST00000475052.1_5'UTR			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	105	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	GAAGAAGGATCATTTCAGTCA	0.368000													36	68					0	0	0.003271	0	0
C16orf62	57020	broad.mit.edu	37	16	19641139	19641139	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:19641139C>T	ENST00000438132.3	+	18	1866	c.1818C>T	c.(1816-1818)ttC>ttT	p.F606F	C16orf62_ENST00000542263.1_Silent_p.F539F|C16orf62_ENST00000251143.5_Silent_p.F517F|C16orf62_ENST00000543152.1_Silent_p.F266F|C16orf62_ENST00000448695.1_Silent_p.F367F|C16orf62_ENST00000417362.2_Silent_p.F450F	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	517						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GCAAGCATTTCACGGTATGTG	0.348000													15	32					0	0	0.003163	0	0
ZBTB3	79842	broad.mit.edu	37	11	62520741	62520741	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:62520741C>T	ENST00000394807.3	-	2	671	c.546G>A	c.(544-546)aaG>aaA	p.K182K		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						TTTCCTCCTCCTTCTTGGTAC	0.547000													35	81					0	0	0.006230	0	0
ARAP1	116985	broad.mit.edu	37	11	72423318	72423318	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:72423318C>T	ENST00000359373.5	-	7	1796	c.945G>A	c.(943-945)atG>atA	p.M315I	ARAP1_ENST00000429686.1_Missense_Mutation_p.M70I|ARAP1_ENST00000426523.1_Missense_Mutation_p.M70I|ARAP1_ENST00000334211.8_Missense_Mutation_p.M70I|ARAP1_ENST00000455638.2_Missense_Mutation_p.M315I|ARAP1_ENST00000393609.3_Missense_Mutation_p.M315I|ARAP1_ENST00000393605.3_Missense_Mutation_p.M75I			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	315					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GCGGCCCGTCCATGGGGTGTG	0.662000													114	253					0	0	0.014410	0	0
SRGAP3	9901	broad.mit.edu	37	3	9036102	9036102	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:9036102G>A	ENST00000383836.3	-	19	2760	c.2333C>T	c.(2332-2334)tCg>tTg	p.S778L	SRGAP3_ENST00000360413.3_Missense_Mutation_p.S754L	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	778	SH3.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCAGTCCTCCGAGGCGCGGTG	0.587000			T	RAF1	pilocytic astrocytoma								36	46					0	0	0.004289	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86526867	86526867	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:86526867C>G	ENST00000450689.2	-	19	2825	c.2640G>C	c.(2638-2640)gaG>gaC	p.E880D	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.E809D|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.E713D|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.E640D	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	880						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GGAAGTCATGCTCCGTACACA	0.473000													6	35					0	0	0.001984	0	0
KIAA0586	9786	broad.mit.edu	37	14	58895132	58895132	+	Silent	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:58895132T>C	ENST00000354386.6	+	2	430	c.186T>C	c.(184-186)aaT>aaC	p.N62N	KIAA0586_ENST00000423743.3_Intron|KIAA0586_ENST00000261244.5_Silent_p.N50N|KIAA0586_ENST00000556134.1_Silent_p.N35N	NM_001244189.1	NP_001231118.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	50										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGTCTGCAAATAAACGTCTTC	0.403000													27	34					0	0	0.006320	0	0
ATP8B4	79895	broad.mit.edu	37	15	50211080	50211080	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:50211080G>A	ENST00000284509.6	-	19	2132	c.1991C>T	c.(1990-1992)tCa>tTa	p.S664L	ATP8B4_ENST00000559829.1_Missense_Mutation_p.S664L	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	664					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	p.S664L(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ATTGGCTAGTGATAAACTTGT	0.343000													13	51					0	0	0.006122	0	0
KCNT2	343450	broad.mit.edu	37	1	196397372	196397372	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:196397372C>T	ENST00000367433.5	-	10	948	c.847G>A	c.(847-849)Gag>Aag	p.E283K	KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.E283K|KCNT2_ENST00000367431.4_Missense_Mutation_p.E283K			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	283						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						TTTTGTCTCTCCATCCACAAA	0.358000													22	49					0	0	0.004656	0	0
RFX6	222546	broad.mit.edu	37	6	117198604	117198604	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:117198604G>A	ENST00000332958.2	+	1	182	c.166G>A	c.(166-168)Gag>Aag	p.E56K		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	56					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GCCCGGGGGCGAGCAGGGCGG	0.667000													4	4					0	0	0.009096	0	0
VAV1	7409	broad.mit.edu	37	19	6833726	6833726	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:6833726C>T	ENST00000304076.2	+	18	1807	c.1713C>T	c.(1711-1713)ttC>ttT	p.F571F	VAV1_ENST00000539284.1_Silent_p.F474F|VAV1_ENST00000602142.1_Silent_p.F571F|VAV1_ENST00000599806.1_Silent_p.F516F|VAV1_ENST00000596764.1_Silent_p.F539F	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	571					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCGTAGATTTCCCAGGAACTA	0.537000													45	85					0	0	0.014410	0	0
TSIX	9383	broad.mit.edu	37	X	73040921	73040921	+	RNA	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:73040921C>A	ENST00000604411.1	+	0	28882				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TAATCCATTCCCCATCCCCAG	0.363000													8	5					0.000157383	0.000170414	0.003080	1	0
PCDHA7	56141	broad.mit.edu	37	5	140214295	140214295	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140214295C>T	ENST00000525929.1	+	1	327	c.327C>T	c.(325-327)atC>atT	p.I109I	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.I109I|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGGTGATCGTGGAAAGGC	0.552000													35	152					0	0	0.005524	0	0
SORCS3	22986	broad.mit.edu	37	10	106974266	106974266	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:106974266G>A	ENST00000369701.3	+	18	2669	c.2442G>A	c.(2440-2442)caG>caA	p.Q814Q	SORCS3_ENST00000369699.4_Silent_p.Q100Q	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	814						integral to membrane	neuropeptide receptor activity	p.Q814H(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCAAGGCCCAGATGTGCCCTG	0.547000													14	32					0	0	0.001855	0	0
C2orf16	84226	broad.mit.edu	37	2	27799442	27799442	+	Translation_Start_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:27799442G>A	ENST00000408964.2	+	1	54	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TAAAACCTATGGAGCTGACAC	0.428000													6	9					0	0	0.001168	0	0
OR7G1	125962	broad.mit.edu	37	19	9226280	9226280	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9226280G>A	ENST00000293614.1	-	1	159	c.160C>T	c.(160-162)Cac>Tac	p.H54Y	OR7G1_ENST00000541538.1_Missense_Mutation_p.H54Y			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						GTGTGGAGGTGGGAGTCAGAG	0.493000													46	82					0	0	0.014410	0	0
DSC1	1823	broad.mit.edu	37	18	28737393	28737393	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:28737393C>T	ENST00000257197.3	-	3	553	c.292G>A	c.(292-294)Gat>Aat	p.D98N	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.D98N	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	98					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CTCTGACCATCTGAAAGGAAA	0.408000													13	21					0	0	0.013537	0	0
IVL	3713	broad.mit.edu	37	1	152882714	152882714	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152882714G>A	ENST00000368764.3	+	2	505	c.441G>A	c.(439-441)atG>atA	p.M147I	IVL_ENST00000392667.2_Start_Codon_SNP_p.M1I			P07476	INVO_HUMAN	involucrin	147					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACTGGGAATGAAGAAAGAGC	0.532000													11	26					0	0	0.004007	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457720	45457720	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:45457720G>A	ENST00000548424.1	+	0	448																											GAATCATGAGGAAAACCAATG	0.468000													24	26					0	0	0.004656	0	0
WIZ	58525	broad.mit.edu	37	19	15535062	15535062	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15535062G>A	ENST00000389282.4	-	9	4941	c.4728C>T	c.(4726-4728)tcC>tcT	p.S1576S	WIZ_ENST00000263381.6_Silent_p.S719S|WIZ_ENST00000599910.1_Silent_p.S893S|WIZ_ENST00000599686.2_Silent_p.S760S|WIZ_ENST00000545156.1_Silent_p.S890S			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1576						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						GGGGCACCAGGGAGGGGACTG	0.662000													13	23					0	0	0.003163	0	0
MUC17	140453	broad.mit.edu	37	7	100685723	100685723	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100685723C>T	ENST00000306151.4	+	3	11090	c.11026C>T	c.(11026-11028)Cct>Tct	p.P3676S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3676	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCATCTCCTGTGACTCC	0.522000													45	95					0	0	0.014410	0	0
SYCP2L	221711	broad.mit.edu	37	6	10956473	10956473	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:10956473G>A	ENST00000283141.6	+	25	2457	c.2161G>A	c.(2161-2163)Gag>Aag	p.E721K		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	721						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AAGAAAATATGAGGTAGTAGT	0.383000													4	14					0	0	0.009096	0	0
NYAP2	57624	broad.mit.edu	37	2	226516185	226516185	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:226516185G>A	ENST00000272907.6	+	6	2279	c.1866G>A	c.(1864-1866)tcG>tcA	p.S622S		NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	622																	GGTCTGCGTCGACGTCAGGTG	0.493000													15	124					0	0	0.003163	0	0
SLC26A9	115019	broad.mit.edu	37	1	205902072	205902072	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:205902072C>T	ENST00000367135.3	-	3	379		c.e3+1		SLC26A9_ENST00000367134.2_Splice_Site|SLC26A9_ENST00000340781.4_Splice_Site	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9							integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGCCCCTTCACCTTGTGGGAC	0.572000													11	19					0	0	0.008291	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209955417	209955417	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:209955417G>A	ENST00000367024.1	+	17	2096	c.1580G>A	c.(1579-1581)tGg>tAg	p.W527*	TRAF3IP3_ENST00000477431.1_Missense_Mutation_p.M138I|TRAF3IP3_ENST00000367025.3_Nonsense_Mutation_p.W527*|TRAF3IP3_ENST00000010338.4_Nonsense_Mutation_p.W507*|TRAF3IP3_ENST00000367026.3_Nonsense_Mutation_p.W507*|TRAF3IP3_ENST00000467830.1_3'UTR			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	527						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TGTGGGCGATGGCTCCCAGTG	0.483000													30	64					0	0	0.010818	0	0
KALRN	8997	broad.mit.edu	37	3	124153247	124153247	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:124153247G>A	ENST00000360013.3	+	17	3044	c.2917G>A	c.(2917-2919)Gat>Aat	p.D973N	KALRN_ENST00000460856.1_Missense_Mutation_p.D964N|KALRN_ENST00000240874.3_Missense_Mutation_p.D973N	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	973					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CGGCCACTACGATGCCGATGC	0.582000													13	25					0	0	0.001855	0	0
UBE4B	10277	broad.mit.edu	37	1	10182103	10182103	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:10182103C>T	ENST00000377157.3	+	9	1849	c.788C>T	c.(787-789)aCc>aTc	p.T263I	UBE4B_ENST00000343090.6_Missense_Mutation_p.T508I|UBE4B_ENST00000253251.8_Missense_Mutation_p.T379I|UBE4B_ENST00000475795.1_3'UTR	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	508					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CTGGTGAGAACCACTCACCAG	0.488000													27	53					0	0	0.009535	0	0
LRP3	4037	broad.mit.edu	37	19	33697953	33697953	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:33697953C>T	ENST00000253193.7	+	7	1987	c.1785C>T	c.(1783-1785)tcC>tcT	p.S595S		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	595					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)					GGCACGCCTcccgccgggggc	0.731000													3	2					0	0	0.004672	0	0
KRT4	3851	broad.mit.edu	37	12	53200947	53200947	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:53200947G>A	ENST00000551956.1	-	9	1961	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F	KRT4_ENST00000458244.2_Missense_Mutation_p.S470F|KRT4_ENST00000293774.4_Missense_Mutation_p.S564F			B4DRS2	B4DRS2_HUMAN	keratin 4	490						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						TCCAGAGCCGGAGCCAAAGCC	0.562000													27	20					0	0	0.009535	0	0
DMBT1	1755	broad.mit.edu	37	10	124348470	124348470	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:124348470C>T	ENST00000338354.3	+	17	1900	c.1794C>T	c.(1792-1794)tcC>tcT	p.S598S	DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368909.3_Silent_p.S598S|DMBT1_ENST00000368955.3_Silent_p.S588S|DMBT1_ENST00000344338.3_Silent_p.S588S|DMBT1_ENST00000359586.6_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	598					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GACCTGAATCCAGTTTGGCCC	0.547000													39	124					0	0	0.006999	0	0
WFDC8	90199	broad.mit.edu	37	20	44190850	44190850	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:44190850G>A	ENST00000357199.4	-	2	113	c.35C>T	c.(34-36)cCt>cTt	p.P12L	WFDC8_ENST00000289953.2_Missense_Mutation_p.P12L	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	12						extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				GCTATGGAGAGGAAAGTGCCT	0.498000													9	12					0	0	0.004482	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795459	142795459	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:142795459G>A	ENST00000370498.1	-	2	972	c.219C>T	c.(217-219)tcC>tcT	p.S73S		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	73										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGTTCTCTCGGGACTGGTCCT	0.433000													85	49					0	0	0.014410	0	0
CD163L1	283316	broad.mit.edu	37	12	7559320	7559320	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:7559320C>T	ENST00000313599.3	-	5	952	c.895G>A	c.(895-897)Gta>Ata	p.V299I	CD163L1_ENST00000396630.1_Missense_Mutation_p.V299I|CD163L1_ENST00000416109.2_Missense_Mutation_p.V309I			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	299	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGCTTGCATACGACATCAGCT	0.522000													45	21					0	0	0.008740	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651420	84651420	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:84651420G>A	ENST00000286744.5	+	21	3264	c.3040G>A	c.(3040-3042)Gaa>Aaa	p.E1014K	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E1014K	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1014						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCCTATGAGGGAATATCCTGG	0.507000													11	48					0	0	0.010729	0	0
ECT2L	345930	broad.mit.edu	37	6	139170409	139170409	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:139170409G>A	ENST00000423192.1	+	8	1068	c.907G>A	c.(907-909)Gtg>Atg	p.V303M	ECT2L_ENST00000367682.2_Missense_Mutation_p.V303M|ECT2L_ENST00000541398.1_Missense_Mutation_p.V234M			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	303					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TCTCCAGATGGTGATGGAGAG	0.393000			"""N, Splice, Mis"""		ETP ALL								49	60					0	0	0.014410	0	0
COL11A1	1301	broad.mit.edu	37	1	103444982	103444982	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:103444982C>T	ENST00000358392.2	-	32	2919	c.2602G>A	c.(2602-2604)Gga>Aga	p.G868R	COL11A1_ENST00000353414.4_Missense_Mutation_p.G817R|COL11A1_ENST00000370096.3_Missense_Mutation_p.G856R|COL11A1_ENST00000512756.1_Missense_Mutation_p.G740R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	856	Triple-helical region.				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)		CCAGGGAATCCAGTGGAACCC	0.338000													9	22					0	0	0.006214	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997481	19997481	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:19997481C>T	ENST00000391403.2	-	1	397	c.294G>A	c.(292-294)gaG>gaA	p.E98E		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	98						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CGCAGGTTGCCTCCAAACTTT	0.373000													33	148					0	0	0.003755	0	0
TJP2	9414	broad.mit.edu	37	9	71845108	71845108	+	Missense_Mutation	SNP	C	C	G	rs142684074		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:71845108C>G	ENST00000377245.4	+	11	1839	c.1631C>G	c.(1630-1632)gCg>gGg	p.A544G	TJP2_ENST00000453658.2_Missense_Mutation_p.A521G|TJP2_ENST00000348208.4_Missense_Mutation_p.A544G|TJP2_ENST00000265384.7_Missense_Mutation_p.A544G|TJP2_ENST00000535702.1_Missense_Mutation_p.A548G|TJP2_ENST00000539225.1_Missense_Mutation_p.A575G	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	544	PDZ 3.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GGGACCTCGGCGGAGCAGGAG	0.512000													22	42					0	0	0.004656	0	0
PADI3	51702	broad.mit.edu	37	1	17603042	17603042	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:17603042G>A	ENST00000375460.3	+	12	1376	c.1336G>A	c.(1336-1338)Gtg>Atg	p.V446M		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	446					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CACCCAGGTGGTGCGGGACTT	0.532000													32	60					0	0	0.012213	0	0
PTPRB	5787	broad.mit.edu	37	12	70933413	70933413	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:70933413C>T	ENST00000334414.6	-	26	5814	c.5770G>A	c.(5770-5772)Gaa>Aaa	p.E1924K	PTPRB_ENST00000451516.2_Missense_Mutation_p.E1616K|PTPRB_ENST00000550358.1_Missense_Mutation_p.E1836K|PTPRB_ENST00000261266.5_Missense_Mutation_p.E1706K|PTPRB_ENST00000550857.1_Missense_Mutation_p.E1616K|PTPRB_ENST00000538708.1_Missense_Mutation_p.E1616K	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1706	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACCTCGTATTCCTTGGATAGA	0.383000													5	4					0	0	0.001168	0	0
GALNT13	114805	broad.mit.edu	37	2	155295165	155295165	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:155295165G>A	ENST00000392825.3	+	12	2024	c.1457G>A	c.(1456-1458)aGa>aAa	p.R486K	GALNT13_ENST00000409237.1_Missense_Mutation_p.R486K|AC009227.2_ENST00000434635.1_RNA|GALNT13_ENST00000487047.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	486	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GATGTTTCTAGACTCAATGGA	0.318000													27	33					0	0	0.009535	0	0
DGKB	1607	broad.mit.edu	37	7	14613992	14613992	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:14613992C>T	ENST00000403951.2	-	20	2037	c.1618G>A	c.(1618-1620)Gaa>Aaa	p.E540K	DGKB_ENST00000407950.1_Missense_Mutation_p.E532K|DGKB_ENST00000406247.3_Missense_Mutation_p.E540K|DGKB_ENST00000402815.1_Missense_Mutation_p.E539K|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Missense_Mutation_p.E540K|DGKB_ENST00000444700.2_Missense_Mutation_p.E521K|DGKB_ENST00000399322.3_Missense_Mutation_p.E540K			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	540	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TTCTCACCTTCGTAACCTAGT	0.323000													25	57					0	0	0.004656	0	0
OR2D2	120776	broad.mit.edu	37	11	6912927	6912927	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:6912927C>T	ENST00000299459.2	-	1	903	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACCGATTTTTCCTGCTGTTTG	0.438000													13	31					0	0	0.001855	0	0
UGT1A8	54576	broad.mit.edu	37	2	234527080	234527080	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:234527080G>A	ENST00000373450.4	+	1	790	c.727G>A	c.(727-729)Gat>Aat	p.D243N		NM_019076.4	NP_061949.3														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		CACAGCATATGATCTCTACAG	0.408000													68	107					0	0	0.014410	0	0
MSH3	4437	broad.mit.edu	37	5	80064787	80064787	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:80064787C>T	ENST00000265081.6	+	15	2298	c.2218C>T	c.(2218-2220)Cct>Tct	p.P740S		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	740					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ACTAAAAAATCCTTCTGCACA	0.313000								Mismatch excision repair (MMR)					5	32					0	0	0.001168	0	0
PTPN22	26191	broad.mit.edu	37	1	114372236	114372236	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:114372236C>T	ENST00000359785.5	-	18	2363	c.2228G>A	c.(2227-2229)gGa>gAa	p.G743E	PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000538253.1_Missense_Mutation_p.G499E|PTPN22_ENST00000528414.1_Missense_Mutation_p.G688E|PTPN22_ENST00000525799.1_Missense_Mutation_p.G616E|PTPN22_ENST00000420377.2_Missense_Mutation_p.G743E	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	743					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAACTTTTTCCAGGAGTCTT	0.393000													30	76					0	0	0.008361	0	0
ANGPT1	284	broad.mit.edu	37	8	108306175	108306175	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:108306175C>A	ENST00000520734.1	-	5	712	c.427G>T	c.(427-429)Gaa>Taa	p.E143*	ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Nonsense_Mutation_p.E142*			Q15389	ANGP1_HUMAN	angiopoietin 1	343					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			ATTTTATATTCCTTCCAGCCT	0.358000													22	47					1.22574e-08	1.33757e-08	0.014323	1	0
SLCO1B1	10599	broad.mit.edu	37	12	21331569	21331569	+	Missense_Mutation	SNP	C	C	T	rs138965366		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:21331569C>T	ENST00000256958.2	+	6	637	c.541C>T	c.(541-543)Cgt>Tgt	p.R181C		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	181					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.R181C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TAATATGCTTCGTGGAATAGG	0.348000													21	42					0	0	0.002780	0	0
IFNE	338376	broad.mit.edu	37	9	21481607	21481607	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:21481607G>A	ENST00000448696.3	-	1	705	c.87C>T	c.(85-87)ttC>ttT	p.F29F	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	29					defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(2)|lung(1)|skin(1)	4						GTCTTTGCTGGAAGATAATCA	0.388000													7	36					0	0	0.003080	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887352	12887352	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:12887352C>T	ENST00000535591.1	-	3	700	c.505G>A	c.(505-507)Gag>Aag	p.E169K		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	169										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ACTTCCACCTCCTGGATACAG	0.463000													112	269					0	0	0.014410	0	0
SHROOM4	57477	broad.mit.edu	37	X	50376915	50376915	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:50376915C>T	ENST00000376020.2	-	4	2183	c.2158G>A	c.(2158-2160)Gga>Aga	p.G720R	SHROOM4_ENST00000289292.7_Missense_Mutation_p.G720R|SHROOM4_ENST00000460112.3_Missense_Mutation_p.G604R	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	720					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CCACGGACTCCACAGTGAGCA	0.577000													8	11					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179395823	179395823	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179395823G>A	ENST00000589042.1	-	358	105743	c.105519C>T	c.(105517-105519)gcC>gcT	p.A35173A	TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000460472.2_Silent_p.A26108A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.A26233A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Silent_p.A32605A|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.A26300A|TTN_ENST00000591111.1_Silent_p.A33532A|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33532							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)			CTTGGTGGCGGGCAGAAGTAC	0.512000													33	164					0	0	0.003755	0	0
SLC9A2	6549	broad.mit.edu	37	2	103236460	103236460	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:103236460C>T	ENST00000233969.2	+	1	295	c.153C>T	c.(151-153)agC>agT	p.S51S		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	51						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GCCCGCCTAGCCCTGCGAGCG	0.677000													9	7					0	0	0.006214	0	0
IFI44	10561	broad.mit.edu	37	1	79129455	79129455	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:79129455C>T	ENST00000370747.4	+	9	1379	c.1294C>T	c.(1294-1296)Cta>Tta	p.L432L	IFI44_ENST00000495254.1_3'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	432					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						CTCAGGGAATCTAAGGGAGGA	0.363000													9	33					0	0	0.008291	0	0
SLC22A3	6581	broad.mit.edu	37	6	160829918	160829918	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:160829918C>T	ENST00000392145.1	+	4	849	c.822C>T	c.(820-822)atC>atT	p.I274I	SLC22A3_ENST00000275300.2_Silent_p.I274I			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	274						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		AGTTAGCCATCACGCTGCCCA	0.408000													11	28					0	0	0.001855	0	0
ANXA13	312	broad.mit.edu	37	8	124748070	124748070	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:124748070C>T	ENST00000262219.6	-	2	130	c.63G>A	c.(61-63)ggG>ggA	p.G21G	ANXA13_ENST00000419625.1_Intron	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	0					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			GTTGGGAGTCCCCTTTAGGCA	0.517000													28	57					0	0	0.006320	0	0
FKBP6	8468	broad.mit.edu	37	7	72743446	72743446	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:72743446G>A	ENST00000252037.4	+	3	328	c.259G>A	c.(259-261)Gga>Aga	p.G87R	FKBP6_ENST00000431982.2_Missense_Mutation_p.G82R|FKBP6_ENST00000413573.2_Intron	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	87	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				AATGAAACTTGGAGAGGGTAG	0.483000													35	53					0	0	0.012213	0	0
FSHR	2492	broad.mit.edu	37	2	49190763	49190763	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:49190763G>A	ENST00000406846.2	-	10	1316	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	FSHR_ENST00000346173.3_Silent_p.F337F|FSHR_ENST00000304421.4_Silent_p.F373F|FSHR_ENST00000541117.1_Silent_p.F135F	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	399					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGCACATAAGGAACCTGGGGA	0.453000									Gonadal Dysgenesis, 46 XX				20	32					0	0	0.012319	0	0
C8A	731	broad.mit.edu	37	1	57373655	57373655	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:57373655G>A	ENST00000361249.3	+	9	1345	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	417	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CATGGCTGTGGAAGACATTAT	0.517000													15	36					0	0	0.004007	0	0
IGKV1-27	28935	broad.mit.edu	37	2	89513063	89513063	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:89513063G>A	ENST00000498435.1	-	0	226																											AGGAGCTTAGGAACTTTCCCT	0.512000													31	100					0	0	0.004878	0	0
PASK	23178	broad.mit.edu	37	2	242078169	242078169	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:242078169G>A	ENST00000403638.3	-	5	732	c.641C>T	c.(640-642)tCt>tTt	p.S214F	PASK_ENST00000234040.4_Missense_Mutation_p.S214F|PASK_ENST00000544142.1_Missense_Mutation_p.S28F|PASK_ENST00000539818.1_5'UTR|PASK_ENST00000358649.4_Missense_Mutation_p.S214F|PASK_ENST00000405260.1_Missense_Mutation_p.S214F	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	214					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CATCCACACAGACACTGGAAT	0.582000													20	27					0	0	0.008871	0	0
MYH8	4626	broad.mit.edu	37	17	10298471	10298471	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:10298471C>T	ENST00000403437.2	-	34	5035	c.4941G>A	c.(4939-4941)agG>agA	p.R1647R	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1647					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTTGGGTGTTCCTGTAGTTCC	0.458000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				86	67					0	0	0.014410	0	0
GALNT5	11227	broad.mit.edu	37	2	158156154	158156154	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:158156154G>A	ENST00000259056.4	+	6	2577	c.2092G>A	c.(2092-2094)Gaa>Aaa	p.E698K		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	698	Catalytic subdomain B.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TTGGGGTGGGGAAAATATGGA	0.378000													12	31					0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179590608	179590608	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179590608A>T	ENST00000589042.1	-	70	20665	c.20441T>A	c.(20440-20442)tTc>tAc	p.F6814Y	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.F5570Y|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.F6497Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6497	Ig-like 49.						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)			ACTTGTGTGGAAGTTTTTGGA	0.428000													11	23					0	0	0.008291	0	0
GRIK3	2899	broad.mit.edu	37	1	37285336	37285336	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:37285336C>T	ENST00000373091.3	-	12	1890		c.e12+1		GRIK3_ENST00000373093.4_Splice_Site	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3						negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AGGGTGCATACCTTGCTGCAT	0.572000													7	20					0	0	0.004482	0	0
OTOGL	283310	broad.mit.edu	37	12	80752495	80752495	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:80752495G>A	ENST00000458043.2	+	50	6145	c.6139G>A	c.(6139-6141)Gaa>Aaa	p.E2047K	OTOGL_ENST00000546620.1_Missense_Mutation_p.E66K|OTOGL_ENST00000547103.1_Missense_Mutation_p.E2035K	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CAACTGTGCAGAAGATATGAA	0.318000													14	13					0	0	0.006122	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52003378	52003378	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:52003378G>A	ENST00000291707.3	-	2	659	c.604C>T	c.(604-606)Cca>Tca	p.P202S	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.P84S	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	202	Ig-like V-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GTGGCCACTGGAATATCCCAT	0.537000													40	71					0	0	0.006230	0	0
OR51B2	79345	broad.mit.edu	37	11	5345396	5345396	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5345396G>A	ENST00000328813.2	-	1	186	c.132C>T	c.(130-132)ctC>ctT	p.L44L	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L44L(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATGAGGTAGAGGAGCATGC	0.527000													23	66					0	0	0.014323	0	0
PALD1	27143	broad.mit.edu	37	10	72292515	72292515	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:72292515C>T	ENST00000263563.6	+	6	1040	c.772C>T	c.(772-774)Ctc>Ttc	p.L258F		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		CAAGCGGCCCCTCTTCCTGCA	0.627000													17	55					0	0	0.006122	0	0
DNAH5	1767	broad.mit.edu	37	5	13817700	13817700	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:13817700C>T	ENST00000265104.4	-	42	7049	c.6945G>A	c.(6943-6945)ggG>ggA	p.G2315G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2315	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TAGAAAATATCCCATCAGTCC	0.403000									Kartagener syndrome				14	29					0	0	0.001855	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27539056	27539056	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:27539056C>T	ENST00000574842.1	+	0	325				LRRC37A6P_ENST00000284414.4_RNA																							GGTTCTACATCATTACCTGGT	0.542000													8	31					0	0	0.004482	0	0
OR2T1	26696	broad.mit.edu	37	1	248569979	248569979	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248569979C>T	ENST00000366474.1	+	1	684	c.684C>T	c.(682-684)ttC>ttT	p.F228F		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCACTTCTTCTGTGAGGCAC	0.512000													13	44					0	0	0.002450	0	0
SPINK5	11005	broad.mit.edu	37	5	147506638	147506638	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:147506638C>T	ENST00000359874.3	+	31	3123	c.3050C>T	c.(3049-3051)tCt>tTt	p.S1017F	SPINK5_ENST00000256084.7_Missense_Mutation_p.S987F	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	987	Kazal-like 15.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTTCAGTTCTCTGGTAAGG	0.383000													6	19					0	0	0.003080	0	0
FNDC1	84624	broad.mit.edu	37	6	159644651	159644651	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:159644651A>T	ENST00000297267.9	+	7	1058	c.858A>T	c.(856-858)gaA>gaT	p.E286D	FNDC1_ENST00000340366.6_Missense_Mutation_p.E286D|FNDC1_ENST00000480856.1_3'UTR	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	286	Fibronectin type-III 3.					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)		CTGTTCTGGAAAAACAGAAGA	0.408000													10	25					0	0	0.006214	0	0
MYPN	84665	broad.mit.edu	37	10	69902759	69902759	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:69902759A>T	ENST00000358913.5	+	3	1453	c.965A>T	c.(964-966)aAt>aTt	p.N322I	MYPN_ENST00000354393.2_Missense_Mutation_p.N47I|MYPN_ENST00000373675.3_Missense_Mutation_p.N322I|MYPN_ENST00000540630.1_Missense_Mutation_p.N322I	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	322	Ig-like 1.|Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CAGGCAGGAAATCTGCACTCA	0.478000													9	40					0	0	0.004482	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406325	38406325	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:38406325G>T	ENST00000322350.5	+	7	1156	c.810G>T	c.(808-810)ttG>ttT	p.L270F	EGFLAM_ENST00000336740.6_Missense_Mutation_p.L36F|EGFLAM_ENST00000354891.3_Missense_Mutation_p.L270F|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	270						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)					ACTTAGATTTGGATATTTCCT	0.463000													8	36					1.06961e-07	1.16509e-07	0.003080	1	0
CENPT	80152	broad.mit.edu	37	16	67863357	67863357	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:67863357G>A	ENST00000562787.1	-	13	1797	c.1249C>T	c.(1249-1251)Ctt>Ttt	p.L417F	CENPT_ENST00000440851.2_Missense_Mutation_p.L417F|CENPT_ENST00000564817.1_Missense_Mutation_p.L362F|CENPT_ENST00000219172.3_Missense_Mutation_p.L417F	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	417					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GCTGGCTCAAGAAACTGATGA	0.577000													9	15					0	0	0.010729	0	0
LURAP1L	286343	broad.mit.edu	37	9	12821462	12821462	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:12821462G>A	ENST00000319264.3	+	2	1085	c.390G>A	c.(388-390)tgG>tgA	p.W130*		NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN	leucine rich adaptor protein 1-like	133																	CCATCAAGTGGATGATCGAAG	0.512000													24	40					0	0	0.002780	0	0
OSBPL2	9885	broad.mit.edu	37	20	60854378	60854378	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:60854378C>T	ENST00000313733.3	+	7	859	c.657C>T	c.(655-657)atC>atT	p.I219I	OSBPL2_ENST00000439951.2_Silent_p.I127I|OSBPL2_ENST00000358053.2_Silent_p.I207I	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	219					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GAGGCACCATCACCCTGGAGC	0.572000													10	18					0	0	0.006214	0	0
STEAP4	79689	broad.mit.edu	37	7	87912071	87912071	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:87912071C>T	ENST00000380079.4	-	3	970	c.869G>A	c.(868-870)cGa>cAa	p.R290Q	AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Intron|STEAP4_ENST00000414498.1_Missense_Mutation_p.R290Q|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000595121.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	290	Ferric oxidoreductase.				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	p.R290Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					AAGCTGCTTTCGGCAAAGCAT	0.473000													11	30					0	0	0.010729	0	0
GRIA1	2890	broad.mit.edu	37	5	153065888	153065888	+	Splice_Site	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:153065888A>T	ENST00000285900.5	+	8	1476	c.1134_splice	c.e8+1	p.K378_splice	GRIA1_ENST00000521843.2_Splice_Site_p.K309_splice|GRIA1_ENST00000518142.1_Splice_Site_p.K298_splice|GRIA1_ENST00000340592.5_Splice_Site_p.K378_splice|GRIA1_ENST00000518783.1_Splice_Site_p.K388_splice|GRIA1_ENST00000448073.4_Splice_Site_p.K388_splice	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	378					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGCATCCGAAAGGTAAGGTCC	0.507000													9	26					0	0	0.004482	0	0
SMOC2	64094	broad.mit.edu	37	6	169053845	169053845	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:169053845G>A	ENST00000354536.5	+	11	1475	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K	SMOC2_ENST00000356284.2_Missense_Mutation_p.E408K	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	408	EF-hand 2.				signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CTCCGTACAAGAACTGATGGG	0.498000													23	30					0	0	0.004656	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066524	18066524	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:18066524C>T	ENST00000506618.2	-	1	962	c.882G>A	c.(880-882)atG>atA	p.M294I		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	294					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CTGCAAGGATCATGGAGATGT	0.403000													52	170					0	0	0.014410	0	0
ROPN1L	83853	broad.mit.edu	37	5	10465004	10465004	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:10465004T>A	ENST00000503804.1	+	6	1159	c.638T>A	c.(637-639)tTt>tAt	p.F213Y	ROPN1L_ENST00000510520.1_Intron|ROPN1L_ENST00000274134.4_Missense_Mutation_p.F213Y			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	213					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						GATTTCTTCTTTCCAAAGAGG	0.313000													22	40					0	0	0.007291	0	0
PEX10	5192	broad.mit.edu	37	1	2340004	2340004	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:2340004C>G	ENST00000288774.3	-	3	514	c.487G>C	c.(487-489)Gcg>Ccg	p.A163P	PEX10_ENST00000507596.1_Missense_Mutation_p.A163P|PEX10_ENST00000447513.2_Missense_Mutation_p.A163P	NM_153818.1	NP_722540.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10	163					protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein binding|protein C-terminus binding|zinc ion binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		ACGAAGACCGCCCGCAGCAGC	0.672000													5	41					0	0	0.000602	0	0
GPC5	2262	broad.mit.edu	37	13	92101047	92101047	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:92101047C>T	ENST00000377067.3	+	2	568	c.196C>T	c.(196-198)Cct>Tct	p.P66S		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	66						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ATCCAAAAAGCCTACATGTTG	0.393000													18	23					0	0	0.010504	0	0
GRXCR2	643226	broad.mit.edu	37	5	145252310	145252310	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:145252310C>T	ENST00000377976.1	-	1	221	c.222G>A	c.(220-222)caG>caA	p.Q74Q		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	74										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GGGAGCACATCTGGGGCCTGG	0.512000													10	32					0	0	0.006214	0	0
THBS2	7058	broad.mit.edu	37	6	169623568	169623568	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:169623568C>T	ENST00000366787.3	-	19	3025	c.2776G>A	c.(2776-2778)Gat>Aat	p.D926N	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	926					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCCCGTCCATCACCTATGCAC	0.398000													14	45					0	0	0.001855	0	0
CCDC141	285025	broad.mit.edu	37	2	179702380	179702380	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179702380C>T	ENST00000420890.2	-	23	3683	c.3566G>A	c.(3565-3567)gGt>gAt	p.G1189D	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.G614D	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	614							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)			CTGGACGCCACCCTCCTTGTC	0.547000													22	51					0	0	0.014323	0	0
VCAN	1462	broad.mit.edu	37	5	82850796	82850796	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:82850796G>A	ENST00000265077.3	+	12	10239	c.9674G>A	c.(9673-9675)tGg>tAg	p.W3225*	VCAN_ENST00000512590.2_Nonsense_Mutation_p.W1423*|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Nonsense_Mutation_p.W2238*|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Nonsense_Mutation_p.W484*|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Nonsense_Mutation_p.W1471*	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3225	C-type lectin.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GATTATCAGTGGATAGGCCTC	0.388000													8	30					0	0	0.008291	0	0
VIPAS39	63894	broad.mit.edu	37	14	77901727	77901727	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:77901727G>A	ENST00000553888.1	-	14	1432	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C	VIPAS39_ENST00000556412.1_Missense_Mutation_p.R334C|VIPAS39_ENST00000448935.2_Missense_Mutation_p.R259C|VIPAS39_ENST00000343765.2_Missense_Mutation_p.R308C|VIPAS39_ENST00000327028.4_Missense_Mutation_p.R295C|VIPAS39_ENST00000557658.1_Missense_Mutation_p.R308C	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog																		TCTAGATGGCGATCATTTGCC	0.448000													10	62					0	0	0.008291	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166226	140166226	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140166226C>T	ENST00000504120.2	+	1	351	c.351C>T	c.(349-351)ttC>ttT	p.F117F	PCDHA1_ENST00000378133.3_Silent_p.F117F|PCDHA1_ENST00000394633.3_Silent_p.F117F	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGTTTTCCATGTGGAGG	0.507000													8	43					0	0	0.004482	0	0
PLXNA1	5361	broad.mit.edu	37	3	126723967	126723967	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:126723967C>T	ENST00000393409.2	+	6	1778	c.1778C>T	c.(1777-1779)tCa>tTa	p.S593L	PLXNA1_ENST00000251772.4_Missense_Mutation_p.S570L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	593					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)		CCTGACCTCTCAGCTGGCGTC	0.662000													10	22					0	0	0.006214	0	0
OR4F6	390648	broad.mit.edu	37	15	102346466	102346466	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:102346466C>T	ENST00000328882.4	+	1	565	c.544C>T	c.(544-546)Cct>Tct	p.P182S		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TTGTGATCTTCCTCGATTTAT	0.373000													14	59					0	0	0.002450	0	0
PRUNE2	158471	broad.mit.edu	37	9	79318599	79318599	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:79318599G>A	ENST00000428286.1	-	9	8053	c.6853C>T	c.(6853-6855)Cca>Tca	p.P2285S	PRUNE2_ENST00000376718.3_Missense_Mutation_p.P2644S			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2644					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCCAGTGATGGATCACCAACC	0.527000													7	17					0	0	0.001984	0	0
SCAF1	58506	broad.mit.edu	37	19	50158109	50158109	+	Silent	SNP	C	C	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:50158109C>G	ENST00000360565.3	+	9	3724	c.3600C>G	c.(3598-3600)ggC>ggG	p.G1200G		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1200	Necessary for interaction with the CTD domain of POLR2A.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GCTCTGAGGGCCGTGGGGACA	0.667000													8	5					0	0	0.003080	0	0
NEURL1	9148	broad.mit.edu	37	10	105349906	105349906	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:105349906C>T	ENST00000369780.4	+	6	1911	c.1502C>T	c.(1501-1503)tCg>tTg	p.S501L	NEURL_ENST00000369777.2_Missense_Mutation_p.S484L|SH3PXD2A_ENST00000427662.2_Intron	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		501					nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GCCCCCAATTCGCCAGTGAGC	0.632000													18	63					0	0	0.004990	0	0
DEFA6	1671	broad.mit.edu	37	8	6782399	6782399	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:6782399C>T	ENST00000297436.2	-	2	284	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K		NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	82					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TAGGAATATTCTGTTGAATAA	0.448000													23	45					0	0	0.003954	0	0
ABCC8	6833	broad.mit.edu	37	11	17438479	17438479	+	Silent	SNP	G	G	A	rs142315209		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:17438479G>A	ENST00000302539.4	-	17	2381	c.2256C>T	c.(2254-2256)ccC>ccT	p.P752P	ABCC8_ENST00000389817.3_Silent_p.P751P	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	751	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGCTGTACCTGGGGTCCTCTC	0.562000													94	197					0	0	0.014410	0	0
PCSK5	5125	broad.mit.edu	37	9	78848402	78848402	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:78848402C>T	ENST00000545128.1	+	22	3294	c.2756C>T	c.(2755-2757)tCg>tTg	p.S919L		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	769					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CGCTGTGTTTCGAACTGCCCC	0.488000													13	38					0	0	0.002450	0	0
POTEH	23784	broad.mit.edu	37	22	16279198	16279198	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:16279198C>A	ENST00000343518.6	-	4	1076	c.1025G>T	c.(1024-1026)gGa>gTa	p.G342V		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	342										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ACTATACCTTCCATATCTATC	0.318000													16	204					2.5808e-16	2.83116e-16	0.006122	1	0
UBQLN4	56893	broad.mit.edu	37	1	156006855	156006855	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:156006855G>A	ENST00000368309.3	-	11	1812	c.1720C>T	c.(1720-1722)Cgt>Tgt	p.R574C	UBQLN4_ENST00000368307.1_Missense_Mutation_p.S226L	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	574	UBA.					cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					TTAGCCTCACGATTGATGAAG	0.592000													16	118					0	0	0.007413	0	0
SGCZ	137868	broad.mit.edu	37	8	13965684	13965684	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:13965684G>A	ENST00000382080.1	-	6	1323	c.608C>T	c.(607-609)tCc>tTc	p.S203F	SGCZ_ENST00000421524.2_Missense_Mutation_p.S156F	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	190					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GAGATCTTGGGATGGCTCTGC	0.443000													14	31					0	0	0.007413	0	0
RIMS4	140730	broad.mit.edu	37	20	43385568	43385568	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:43385568G>A	ENST00000372851.3	-	5	628	c.562C>T	c.(562-564)Cct>Tct	p.P188S	RIMS4_ENST00000541604.2_Missense_Mutation_p.P189S	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	188	C2.				exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				GGACTCTCAGGAAACAGCAGC	0.552000													20	186					0	0	0.002780	0	0
PKP1	5317	broad.mit.edu	37	1	201297943	201297943	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:201297943G>A	ENST00000263946.3	+	14	2474	c.2223G>A	c.(2221-2223)agG>agA	p.R741R	PKP1_ENST00000367324.3_Silent_p.R720R|PKP1_ENST00000352845.3_Silent_p.R741R	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	741					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						ACAGCCTCAGGAACTTCACCT	0.522000													59	126					0	0	0.014410	0	0
IL18R1	8809	broad.mit.edu	37	2	102992417	102992417	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:102992417G>A	ENST00000409599.1	+	6	875	c.519G>A	c.(517-519)aaG>aaA	p.K173K	IL18R1_ENST00000233957.1_Silent_p.K173K			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	173	Ig-like C2-type 2.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CGATAAAGAAGAACGCCGAGT	0.313000													13	17					0	0	0.013537	0	0
OR51F1	256892	broad.mit.edu	37	11	4790565	4790565	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:4790565G>A	ENST00000380383.1	-	1	603	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	OR51F1_ENST00000343430.3_Missense_Mutation_p.R195W|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	195						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTATTTGCCCGAATGTCTGAA	0.388000													23	34					0	0	0.003954	0	0
FBLN5	10516	broad.mit.edu	37	14	92403309	92403309	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:92403309C>T	ENST00000267620.10	-	5	653	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	FBLN5_ENST00000556154.1_Missense_Mutation_p.E126K|FBLN5_ENST00000342058.4_Missense_Mutation_p.E121K			Q9UBX5	FBLN5_HUMAN	fibulin 5	121	EGF-like 2; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TGGTTGCTTTCATCCATCTGG	0.537000													41	65					0	0	0.008740	0	0
ATG7	10533	broad.mit.edu	37	3	11389500	11389500	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:11389500C>T	ENST00000354449.3	+	12	1300	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	ATG7_ENST00000354956.5_Silent_p.F425F|ATG7_ENST00000446450.2_Silent_p.F386F	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	425					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						AGAAAATATTCCCCGGTGTGG	0.478000													21	133					0	0	0.002780	0	0
NOD2	64127	broad.mit.edu	37	16	50733855	50733855	+	Missense_Mutation	SNP	C	C	T	rs144368009		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:50733855C>T	ENST00000300589.2	+	2	635	c.530C>T	c.(529-531)cCg>cTg	p.P177L	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	177	CARD 2.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ATCTTCACACCGTCCCAGAGG	0.542000													5	18					0	0	0.001168	0	0
DNAH7	56171	broad.mit.edu	37	2	196749415	196749415	+	Missense_Mutation	SNP	C	C	T	rs13034775		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:196749415C>T	ENST00000312428.6	-	35	5757	c.5657G>A	c.(5656-5658)cGa>cAa	p.R1886Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1886			R -> Q (in dbSNP:rs13034775).		ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAACGTATTTCGAGTTCGATC	0.358000													11	41					0	0	0.002450	0	0
APOB	338	broad.mit.edu	37	2	21230037	21230037	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:21230037C>T	ENST00000233242.1	-	26	9830	c.9703G>A	c.(9703-9705)Gct>Act	p.A3235T		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3235	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GATTTTTCAGCTTTGTACTTA	0.363000													127	203					0	0	0.014410	0	0
MUC17	140453	broad.mit.edu	37	7	100678106	100678106	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100678106G>A	ENST00000306151.4	+	3	3473	c.3409G>A	c.(3409-3411)Gaa>Aaa	p.E1137K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1137	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTTCTACTGAAGCCAGTTC	0.532000													84	221					0	0	0.014410	0	0
SLC9B1	150159	broad.mit.edu	37	4	103912820	103912820	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:103912820G>A	ENST00000296422.7	-	2	190	c.49C>T	c.(49-51)Caa>Taa	p.Q17*	SLC9B1_ENST00000394789.3_Nonsense_Mutation_p.Q17*	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	17						integral to membrane	solute:hydrogen antiporter activity										GTAGATGTTTGGAAGTTTTCA	0.259000													4	4					0	0	0.003080	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157816	26157816	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:26157816G>A	ENST00000325250.1	+	2	901	c.714G>A	c.(712-714)ggG>ggA	p.G238G		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	238	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						TCCTCTATGGGGATCCCAGGA	0.493000													5	3					0	0	0.001168	0	0
MOB3C	148932	broad.mit.edu	37	1	47080695	47080695	+	Silent	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:47080695A>G	ENST00000271139.8	-	1	110	c.54T>C	c.(52-54)ctT>ctC	p.L18L	MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000371940.1_5'UTR|MOB3C_ENST00000477318.1_Intron|MOB3C_ENST00000319928.3_Intron	NM_145279.4	NP_660322.2	Q70IA8	MOL2C_HUMAN	MOB kinase activator 3C	0							metal ion binding										TCACCCAAAGAAGTCCCCAGG	0.463000													30	60					0	0	0.006999	0	0
STK39	27347	broad.mit.edu	37	2	168812061	168812061	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:168812061G>A	ENST00000355999.4	-	18	2288	c.1583C>T	c.(1582-1584)tCg>tTg	p.S528L	STK39_ENST00000487143.1_5'UTR	NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	528					response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						AGGAATCTCCGACCCATCACA	0.493000													3	8					0	0	0.009096	0	0
DDX60	55601	broad.mit.edu	37	4	169158553	169158553	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:169158553G>A	ENST00000393743.3	-	32	4586	c.4295C>T	c.(4294-4296)cCt>cTt	p.P1432L		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1432							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AAACCCCATAGGATTACCTTC	0.323000													7	15					0	0	0.003080	0	0
IL36B	27177	broad.mit.edu	37	2	113789344	113789344	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:113789344C>T	ENST00000259213.4	-	2	51		c.e2-1		IL36B_ENST00000327407.2_Splice_Site	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta						immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						GGTGAGGAGGCTGTTAACAGT	0.408000													5	23					0	0	0.000602	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099651	142099651	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142099651G>A	ENST00000390359.3	-	0	189																											TACCAAAAAAGGGATACATGA	0.517000													17	42					0	0	0.008871	0	0
LCE2C	353140	broad.mit.edu	37	1	152648564	152648564	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152648564C>T	ENST00000368783.1	+	2	128	c.73C>T	c.(73-75)Cca>Tca	p.P25S	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	25	Cys-rich.				keratinization			p.P25T(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			cccaaaatgtccacctaagtg	0.572000													26	62					0	0	0.003954	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228816	57228816	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:57228816G>A	ENST00000396721.2	-	2	221	c.91C>T	c.(91-93)Ctc>Ttc	p.L31F	SDR16C5_ENST00000522671.1_Missense_Mutation_p.L31F|SDR16C5_ENST00000303749.3_Missense_Mutation_p.L31F			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	31					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity	p.L31F(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						GGCTTTGGGAGTAAGGCAAAA	0.468000													12	31					0	0	0.013537	0	0
CSMD3	114788	broad.mit.edu	37	8	113668412	113668412	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:113668412G>A	ENST00000297405.5	-	18	3219	c.2975C>T	c.(2974-2976)tCc>tTc	p.S992F	CSMD3_ENST00000455883.2_Missense_Mutation_p.S888F|CSMD3_ENST00000352409.3_Missense_Mutation_p.S992F|CSMD3_ENST00000343508.3_Missense_Mutation_p.S952F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	992	CUB 5.					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						ACCATTATTGGAACGACTGTT	0.323000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	54					0	0	0.008291	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39103800	39103800	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:39103800G>A	ENST00000297668.6	-	16	2550	c.2477C>T	c.(2476-2478)tCc>tTc	p.S826F	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.S738F|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.S825F	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	826	Laminin G-like 3.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CACCCCGGAGGAAACTGTGGT	0.478000													8	26					0	0	0.010729	0	0
GPX7	2882	broad.mit.edu	37	1	53072487	53072487	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:53072487C>T	ENST00000361314.4	+	2	308	c.270C>T	c.(268-270)ggC>ggT	p.G90G	GPX7_ENST00000459779.1_3'UTR	NM_015696.4	NP_056511.2	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7	90					response to oxidative stress	extracellular region	glutathione peroxidase activity			breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1)	7					Glutathione(DB00143)	ACCAGTTTGGCCAACAGGAGC	0.587000													31	51					0	0	0.012213	0	0
FLG2	388698	broad.mit.edu	37	1	152323556	152323556	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152323556C>T	ENST00000388718.5	-	3	6778	c.6706G>A	c.(6706-6708)Ggt>Agt	p.G2236S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2236							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)			TGTCCATAACCATAGTGGGCA	0.537000													111	192					0	0	0.014410	0	0
NUP54	53371	broad.mit.edu	37	4	77057383	77057383	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:77057383G>C	ENST00000264883.3	-	4	618	c.478C>G	c.(478-480)Ccg>Gcg	p.P160A	NUP54_ENST00000514987.1_Missense_Mutation_p.P112A|NUP54_ENST00000458189.2_Intron|NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000342467.6_5'UTR	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	160	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TCCACTGGCGGAATATTATTG	0.353000													27	32					0	0	0.013726	0	0
SNHG14	104472715	broad.mit.edu	37	15	25231979	25231979	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:25231979G>A	ENST00000551631.2	+	0	887				SNHG14_ENST00000551361.1_RNA	NR_001293.1																						ATCTCTGGAAGAGATGACACg	0.483000													4	14					0	0	0.009096	0	0
LRRC40	55631	broad.mit.edu	37	1	70644645	70644645	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:70644645G>A	ENST00000370952.3	-	6	772	c.693C>T	c.(691-693)ctC>ctT	p.L231L		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	231										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TAGTTTCCAAGAGATTTGAAT	0.308000													11	29					0	0	0.001855	0	0
KLHL38	340359	broad.mit.edu	37	8	124664648	124664648	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:124664648C>T	ENST00000325995.7	-	1	542	c.519G>A	c.(517-519)aaG>aaA	p.K173K	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	173	BACK.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CACAGAGCTCCTTCAGGTCGG	0.557000													30	48					0	0	0.004289	0	0
NUP210	23225	broad.mit.edu	37	3	13417924	13417924	+	Missense_Mutation	SNP	C	C	T	rs141201901		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:13417924C>T	ENST00000254508.5	-	10	1242	c.1160G>A	c.(1159-1161)cGa>cAa	p.R387Q		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	387					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AGTTTCAATTCGGATGTTCTG	0.542000													11	35					0	0	0.010729	0	0
WIPF1	7456	broad.mit.edu	37	2	175436887	175436887	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:175436887C>T	ENST00000392547.2	-	5	745	c.646G>A	c.(646-648)Ggg>Agg	p.G216R	WIPF1_ENST00000392546.2_Missense_Mutation_p.G216R|WIPF1_ENST00000409415.3_Missense_Mutation_p.G216R|WIPF1_ENST00000409891.1_Missense_Mutation_p.G216R|WIPF1_ENST00000359761.3_Missense_Mutation_p.G216R|AC018890.6_ENST00000412835.1_RNA|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.G216R	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	216					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GGAGTGGGCCCGGGGCTGGGC	0.642000													19	86					0	0	0.012319	0	0
MUC6	4588	broad.mit.edu	37	11	1031885	1031885	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:1031885G>A	ENST00000421673.2	-	3	334	c.284C>T	c.(283-285)tCg>tTg	p.S95L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	95	VWFD 1.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GATGATCCGCGAGATGCTCCC	0.657000													17	39					0	0	0.007413	0	0
CUZD1	50624	broad.mit.edu	37	10	124597036	124597036	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:124597036C>T	ENST00000368904.1	-	6	1432	c.483G>A	c.(481-483)ttG>ttA	p.L161L	CUZD1_ENST00000392790.1_Silent_p.L161L|CUZD1_ENST00000545804.1_Silent_p.L161L			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	161	CUB 2.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		AGGATCCTTCCAAGGTATCCA	0.423000													10	38					0	0	0.008291	0	0
KRT18P55	284085	broad.mit.edu	37	17	26604151	26604151	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:26604151C>T	ENST00000577198.1	-	0	810					NR_028334.1																						CCATTCCTGCCAGACCCCCGG	0.602000													25	28					0	0	0.003954	0	0
EHD3	30845	broad.mit.edu	37	2	31483545	31483545	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:31483545C>T	ENST00000322054.5	+	4	957	c.672C>T	c.(670-672)atC>atT	p.I224I	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	224					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CTGACCAGATCGAGACGCAGC	0.552000													11	19					0	0	0.010729	0	0
GABPB2	126626	broad.mit.edu	37	1	151090540	151090540	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:151090540C>T	ENST00000368918.3	+	9	1486	c.1155C>T	c.(1153-1155)taC>taT	p.Y385Y	GABPB2_ENST00000368916.1_Silent_p.Y347Y|GABPB2_ENST00000368917.1_Silent_p.Y347Y|GABPB2_ENST00000467551.1_3'UTR	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	385					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		CAGAACAGTACCGTCTTAAGC	0.512000													25	48					0	0	0.007291	0	0
NOS1	4842	broad.mit.edu	37	12	117703244	117703244	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:117703244G>A	ENST00000317775.6	-	12	2698	c.2013C>T	c.(2011-2013)taC>taT	p.Y671Y	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.Y671Y	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	671					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCCGGCAGCGGTACTCATTCT	0.607000													9	7					0	0	0.004482	0	0
CPA6	57094	broad.mit.edu	37	8	68658352	68658352	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:68658352C>T	ENST00000297770.4	-	1	228	c.13G>A	c.(13-15)Ggg>Agg	p.G5R	CPA6_ENST00000518549.1_Missense_Mutation_p.G5R|CPA6_ENST00000297769.4_5'UTR	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	5					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CTGCGCTTCCCGAGACACTTC	0.542000													7	31					0	0	0.003080	0	0
OR4P4	81300	broad.mit.edu	37	11	55405880	55405880	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:55405880C>T	ENST00000314612.2	+	1	47	c.47C>T	c.(46-48)tCc>tTc	p.S16F		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TTGGGGTTTTCCCAAAATAAG	0.328000													11	143					0	0	0.002450	0	0
OR10C1	442194	broad.mit.edu	37	6	29408592	29408592	+	Missense_Mutation	SNP	C	C	T	rs150247833	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:29408592C>T	ENST00000444197.2	+	1	1510	c.800C>T	c.(799-801)cCg>cTg	p.P267L	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AGCTACGATCCGGCCACTGAC	0.567000													64	109					0	0	0.014410	0	0
MXRA5	25878	broad.mit.edu	37	X	3240982	3240982	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:3240982G>A	ENST00000217939.6	-	5	2898	c.2744C>T	c.(2743-2745)tCt>tTt	p.S915F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	915						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATAAGGCTCAGATATAAGTGT	0.493000													25	11					0	0	0.005443	0	0
PYGL	5836	broad.mit.edu	37	14	51398399	51398399	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:51398399C>T	ENST00000216392.7	-	4	852	c.520G>A	c.(520-522)Gga>Aga	p.G174R	PYGL_ENST00000532462.1_Missense_Mutation_p.G174R|PYGL_ENST00000544180.2_Missense_Mutation_p.G140R	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	174					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	ACCTGCCATCCATCTCGGATC	0.413000													13	57					0	0	0.001855	0	0
SRRM2	23524	broad.mit.edu	37	16	2813042	2813042	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:2813042C>T	ENST00000301740.8	+	11	3062	c.2513C>T	c.(2512-2514)tCa>tTa	p.S838L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	838	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CATTCCAGTTCATCTCCTCAT	0.493000													55	136					0	0	0.014410	0	0
EFCAB13	124989	broad.mit.edu	37	17	45473267	45473267	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:45473267G>A	ENST00000331493.2	+	17	2280	c.1869G>A	c.(1867-1869)tgG>tgA	p.W623*	EFCAB13_ENST00000517484.1_Nonsense_Mutation_p.W527*	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		CTGACCTGTGGAATACTCTGT	0.358000													18	33					0	0	0.006122	0	0
CTNNA3	29119	broad.mit.edu	37	10	68526108	68526108	+	Missense_Mutation	SNP	G	G	A	rs115276158	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:68526108G>A	ENST00000433211.1	-	9	1369	c.1195C>T	c.(1195-1197)Ctc>Ttc	p.L399F	CTNNA3_ENST00000373744.4_Missense_Mutation_p.L399F|CTNNA3_ENST00000494580.1_5'UTR	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	399					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GCTTCAATGAGAACCAAAAGA	0.403000													10	45					0	0	0.006214	0	0
FAT4	79633	broad.mit.edu	37	4	126241317	126241317	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:126241317A>G	ENST00000394329.3	+	1	3764	c.3751A>G	c.(3751-3753)Aaa>Gaa	p.K1251E		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1251	Cadherin 12.				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						TTCTATAATAAAAGGAAATGA	0.368000													12	12					0	0	0.002450	0	0
CPPED1	55313	broad.mit.edu	37	16	12758832	12758832	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:12758832C>T	ENST00000381774.4	-	4	1096	c.856G>A	c.(856-858)Gag>Aag	p.E286K	CPPED1_ENST00000433677.2_Missense_Mutation_p.E144K|CPPED1_ENST00000261660.4_Missense_Mutation_p.R112Q	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	286							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						ACAATTTTCTCGGCGGTGACC	0.527000													7	62					0	0	0.001984	0	0
OR4K1	79544	broad.mit.edu	37	14	20404458	20404458	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:20404458C>T	ENST00000285600.4	+	1	692	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGAGCTGTTTCCTGGCTTTAA	0.438000													8	88					0	0	0.003080	0	0
TBC1D1	23216	broad.mit.edu	37	4	38051315	38051315	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:38051315T>G	ENST00000261439.4	+	11	2061	c.1706T>G	c.(1705-1707)cTg>cGg	p.L569R	TBC1D1_ENST00000508802.1_Missense_Mutation_p.L569R	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	569						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCGGAGGACCTGTCCAGTGAC	0.592000													20	32					0	0	0.010504	0	0
TPSB2	64499	broad.mit.edu	37	16	1279611	1279611	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:1279611G>A	ENST00000430512.2	-	0	240				TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000339687.6_RNA	NM_024164.5	NP_077078.5	P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)						proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				GGGGGTGGATGAGGGAGCCCC	0.687000													6	33					0	0	0.001984	0	0
TULP2	7288	broad.mit.edu	37	19	49398326	49398326	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:49398326G>A	ENST00000221399.3	-	6	587	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	148					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GGGAGAGACGGAACCATTCTC	0.527000													20	33					0	0	0.008871	0	0
EPHB2	2048	broad.mit.edu	37	1	23191429	23191429	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:23191429G>A	ENST00000400191.3	+	5	1045	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	EPHB2_ENST00000544305.1_Missense_Mutation_p.E343K|EPHB2_ENST00000374630.3_Missense_Mutation_p.E343K|EPHB2_ENST00000374627.1_Missense_Mutation_p.E337K|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374632.3_Missense_Mutation_p.E343K	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	343	Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCTCATGCTGGAGTGGACCCC	0.677000													38	92					0	0	0.009718	0	0
ADAM30	11085	broad.mit.edu	37	1	120438510	120438510	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:120438510C>T	ENST00000369400.1	-	1	608	c.450G>A	c.(448-450)aaG>aaA	p.K150K		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	150					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TGGGAGAGGCCTTGAGGGGCT	0.443000													243	498					0	0	0.014410	0	0
TNN	63923	broad.mit.edu	37	1	175096203	175096203	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:175096203C>T	ENST00000239462.4	+	13	3140	c.3027C>T	c.(3025-3027)ttC>ttT	p.F1009F		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1009	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTTACCAGTTCCCAGATGGCA	0.517000													39	59					0	0	0.008740	0	0
FBXO40	51725	broad.mit.edu	37	3	121341815	121341815	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:121341815C>T	ENST00000338040.4	+	3	1953	c.1539C>T	c.(1537-1539)ctC>ctT	p.L513L		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	513					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GATGCCCCCTCGCCTACTTGG	0.483000													12	31					0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179464311	179464311	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179464311C>T	ENST00000589042.1	-	289	56541	c.56317G>A	c.(56317-56319)Gca>Aca	p.A18773T	TTN_ENST00000460472.2_Missense_Mutation_p.A9708T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A9833T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A16205T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A9900T|TTN_ENST00000591111.1_Missense_Mutation_p.A17132T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17132	Fibronectin type-III 36.						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)			TCCTTTGATGCTGTTCCCAGA	0.383000													78	154					0	0	0.014410	0	0
PCDH18	54510	broad.mit.edu	37	4	138452467	138452467	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:138452467G>A	ENST00000344876.4	-	1	1162	c.776C>T	c.(775-777)tCc>tTc	p.S259F	PCDH18_ENST00000507846.1_Missense_Mutation_p.S39F|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.S259F	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	259	Cadherin 3.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GCCAACCGGGGAGTTTTCTAA	0.428000													21	27					0	0	0.010504	0	0
MAML3	55534	broad.mit.edu	37	4	140641356	140641356	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:140641356C>T	ENST00000509479.2	-	5	3394	c.2538G>A	c.(2536-2538)acG>acA	p.T846T	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	842	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					CGGTGGCCATCGTCCCAGGGT	0.597000													63	80					0	0	0.014410	0	0
OR1L3	26735	broad.mit.edu	37	9	125437963	125437963	+	Silent	SNP	G	G	A	rs141603415		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:125437963G>A	ENST00000304820.2	+	1	649	c.555G>A	c.(553-555)ctG>ctA	p.L185L		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L185L(1)		breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						ACCCTGTGCTGAAACTGTCCT	0.448000													28	95					0	0	0.006320	0	0
RFX3	5991	broad.mit.edu	37	9	3225181	3225181	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:3225181G>A	ENST00000382004.3	-	18	2422	c.2111C>T	c.(2110-2112)cCa>cTa	p.P704L		NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	704					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GCAGCCCACTGGAAATGCCTG	0.488000													11	15					0	0	0.010729	0	0
ACTL6B	51412	broad.mit.edu	37	7	100240948	100240948	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100240948C>T	ENST00000160382.5	-	14	1308	c.1200_splice	c.e14-1	p.G401_splice		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	401					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)					CTGGAAAGTGCCCTGGGTGGA	0.622000													18	31					0	0	0.008871	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665909	19665909	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:19665909G>A	ENST00000328041.6	+	12	1425	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	410						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGCTGGCAACGAAACAgagaa	0.537000													17	32					0	0	0.004007	0	0
LRP2	4036	broad.mit.edu	37	2	170058349	170058349	+	Silent	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:170058349G>T	ENST00000263816.3	-	44	8526	c.8241C>A	c.(8239-8241)acC>acA	p.T2747T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2747	LDL-receptor class A 17.				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)	CATTGGCACAGGTGAAGGCTG	0.448000													24	22					5.45024e-15	5.97461e-15	0.003330	1	0
SMIM21	284274	broad.mit.edu	37	18	73130767	73130767	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:73130767C>T	ENST00000584508.1	-	2	352	c.234G>A	c.(232-234)tgG>tgA	p.W78*	SMIM21_ENST00000579022.1_Nonsense_Mutation_p.W78*|SMIM21_ENST00000382638.3_Intron|RP11-321M21.3_ENST00000579386.1_Intron|RP11-321M21.3_ENST00000578340.1_Intron					small integral membrane protein 21																		tggcccttttccagtcttcag	0.363000													40	43					0	0	0.014410	0	0
SOX7	83595	broad.mit.edu	37	8	10583781	10583781	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:10583781C>T	ENST00000304501.1	-	2	712	c.634G>A	c.(634-636)Gtg>Atg	p.V212M	SOX7_ENST00000554914.1_Missense_Mutation_p.V264M|SOX7_ENST00000553390.1_Missense_Mutation_p.V264M	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	212					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GGCTCCAGCACGTCCAGGGGA	0.701000													11	31					0	0	0.013537	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290982	141290982	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:141290982G>A	ENST00000247452.3	-	3	1139	c.792C>T	c.(790-792)caC>caT	p.H264H		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	264	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CATAGACGAAGTGCTCCCTCC	0.507000										HNSCC(46;0.14)			48	14					0	0	0.014410	0	0
HIVEP3	59269	broad.mit.edu	37	1	41978682	41978682	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:41978682C>T	ENST00000372584.1	-	7	7224	c.6210G>A	c.(6208-6210)agG>agA	p.R2070R	HIVEP3_ENST00000247584.5_Silent_p.R2070R|HIVEP3_ENST00000372583.1_Silent_p.R2070R|HIVEP3_ENST00000429157.2_Silent_p.R2070R|HIVEP3_ENST00000460604.1_5'UTR	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2070	6 X 4 AA tandem repeats of S-P-X-[RK].				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GAGACCATCTCCTGGTGGGCG	0.687000													23	21					0	0	0.002780	0	0
FLNA	2316	broad.mit.edu	37	X	153594969	153594969	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:153594969G>A	ENST00000422373.1	-	7	1274	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	FLNA_ENST00000344736.4_Silent_p.F342F|FLNA_ENST00000369850.3_Silent_p.F342F|FLNA_ENST00000360319.4_Silent_p.F342F	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	342					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCAGACGGAGAAGGTGCGGT	0.627000													22	18					0	0	0.003330	0	0
ROBO4	54538	broad.mit.edu	37	11	124761258	124761258	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:124761258C>T	ENST00000306534.3	-	12	2370	c.1885G>A	c.(1885-1887)Gga>Aga	p.G629R	ROBO4_ENST00000533054.1_Missense_Mutation_p.G484R|RP11-664I21.6_ENST00000524433.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	629					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GAAGAGAGTCCCCTGCGGCTG	0.632000													4	34					0	0	0.009096	0	0
SLC16A10	117247	broad.mit.edu	37	6	111498712	111498712	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:111498712G>A	ENST00000368851.5	+	3	961	c.786G>A	c.(784-786)gaG>gaA	p.E262E	SLC16A10_ENST00000465319.1_3'UTR|SLC16A10_ENST00000368850.3_5'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	262					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		AAGATAAAGAGAGTGGAGGTA	0.433000													4	34					0	0	0.009096	0	0
SP140	11262	broad.mit.edu	37	2	231102958	231102958	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:231102958C>T	ENST00000392045.3	+	3	382	c.268C>T	c.(268-270)Cca>Tca	p.P90S	SP140_ENST00000544128.1_3'UTR|SP140_ENST00000350136.5_Missense_Mutation_p.P70S|SP140_ENST00000417495.3_Missense_Mutation_p.P90S|SP140_ENST00000420434.3_Missense_Mutation_p.P90S|SP140_ENST00000373645.3_Missense_Mutation_p.P90S|SP140_ENST00000486687.2_Missense_Mutation_p.P90S|SP140_ENST00000343805.6_Missense_Mutation_p.P90S	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	90	HSR.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAACCTGGTCCCAGTGACAAG	0.378000													11	46					0	0	0.002450	0	0
IDO1	3620	broad.mit.edu	37	8	39775453	39775453	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:39775453C>T	ENST00000518237.1	+	2	786	c.147C>T	c.(145-147)ctC>ctT	p.L49L	RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Silent_p.L49L	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	49					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	TGCCTGATCTCATAGAGTCTG	0.323000													8	27					0	0	0.003080	0	0
CELSR3	1951	broad.mit.edu	37	3	48699813	48699813	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:48699813G>A	ENST00000544264.1	-	1	535	c.255C>T	c.(253-255)ttC>ttT	p.F85F	CELSR3_ENST00000164024.4_Silent_p.F85F			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	85					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGAGCCCCACGAAGATAGGCT	0.657000													21	79					0	0	0.010504	0	0
CANT1	124583	broad.mit.edu	37	17	76993403	76993403	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:76993403G>A	ENST00000302345.2	-	2	796	c.302C>T	c.(301-303)gCt>gTt	p.A101V	CANT1_ENST00000591773.1_Missense_Mutation_p.A101V|CANT1_ENST00000392446.5_Missense_Mutation_p.A101V	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	101					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CCGAATCCCAGCCGGTGTCCT	0.582000			T	ETV4	prostate								134	59					0	0	0.014410	0	0
PHF3	23469	broad.mit.edu	37	6	64422871	64422871	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:64422871C>T	ENST00000262043.3	+	16	5727	c.5387C>T	c.(5386-5388)tCa>tTa	p.S1796L	PHF3_ENST00000393387.1_Missense_Mutation_p.S1796L			Q92576	PHF3_HUMAN	PHD finger protein 3	1796					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ACAAACTTTTCACCCATGAGG	0.458000													29	49					0	0	0.012213	0	0
ANK2	287	broad.mit.edu	37	4	114286205	114286205	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:114286205C>T	ENST00000357077.4	+	41	10952	c.10899C>T	c.(10897-10899)ctC>ctT	p.L3633L	ANK2_ENST00000509550.1_Silent_p.L724L|ANK2_ENST00000264366.6_Silent_p.L3600L|ANK2_ENST00000510275.2_Silent_p.L200L|ANK2_ENST00000394537.3_Silent_p.L1548L|ANK2_ENST00000506722.1_Silent_p.L1539L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3600					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)		ATACCAACCTCGTTGAATGTC	0.388000													32	29					0	0	0.013726	0	0
GRIK1	2897	broad.mit.edu	37	21	30971160	30971160	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:30971160C>T	ENST00000399914.1	-	8	1717	c.1196G>A	c.(1195-1197)gGa>gAa	p.G399E	BACH1_ENST00000462262.1_Intron|GRIK1_ENST00000327783.4_Missense_Mutation_p.G399E|GRIK1_ENST00000535441.1_Missense_Mutation_p.G401E|GRIK1_ENST00000309434.7_Missense_Mutation_p.G401E|GRIK1-AS2_ENST00000333765.4_Intron|GRIK1_ENST00000389125.3_Missense_Mutation_p.G399E|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000389124.2_Missense_Mutation_p.G399E|GRIK1_ENST00000399907.1_Missense_Mutation_p.G399E|GRIK1_ENST00000399909.1_Missense_Mutation_p.G399E|GRIK1_ENST00000399913.1_Missense_Mutation_p.G399E			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	399					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CTTTTCAGTTCCTTCCTCTTT	0.368000													22	25					0	0	0.002780	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92663747	92663747	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:92663747C>T	ENST00000318445.6	+	5	1276	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Silent_p.I354I	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	354					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TCACCTGCATCATCCTGGCCG	0.567000													25	111					0	0	0.003954	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799890	159799890	+	Missense_Mutation	SNP	C	C	T	rs141884763		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:159799890C>T	ENST00000289707.5	+	2	424	c.275C>T	c.(274-276)cCg>cTg	p.P92L	SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	92						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					GAGCTCGGGCCGCTGGAGTCT	0.627000													26	39					0	0	0.003330	0	0
ATP8B4	79895	broad.mit.edu	37	15	50264922	50264922	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:50264922C>T	ENST00000284509.6	-	13	1241	c.1100G>A	c.(1099-1101)cGa>cAa	p.R367Q	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R367Q	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	367					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(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TATTGCTTTTCGAGAATAATA	0.408000													4	20					0	0	0.001168	0	0
GRM5	2915	broad.mit.edu	37	11	88780397	88780397	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:88780397G>A	ENST00000418177.2	-	2	1011	c.644C>T	c.(643-645)tCa>tTa	p.S215L	GRM5_ENST00000393294.3_Missense_Mutation_p.S215L|GRM5_ENST00000305447.4_Missense_Mutation_p.S215L|GRM5_ENST00000393297.1_Missense_Mutation_p.S215L|GRM5_ENST00000305432.5_Missense_Mutation_p.S215L|GRM5_ENST00000455756.2_Missense_Mutation_p.S215L			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	215					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GTGCACGGCTGATACATAGGT	0.418000													26	44					0	0	0.009535	0	0
KCNQ5	56479	broad.mit.edu	37	6	73787056	73787056	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:73787056C>T	ENST00000342056.2	+	4	1026	c.628C>T	c.(628-630)Ctt>Ttt	p.L210F	KCNQ5_ENST00000355194.4_Missense_Mutation_p.L210F|KCNQ5_ENST00000355635.3_Missense_Mutation_p.L210F|KCNQ5_ENST00000403813.2_Missense_Mutation_p.L210F|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L210F|KCNQ5_ENST00000370392.1_Missense_Mutation_p.L210F|KCNQ5_ENST00000414165.2_Missense_Mutation_p.L210F|KCNQ5_ENST00000370398.1_Missense_Mutation_p.L210F	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	210					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TACCATTGTTCTTATCGCTTC	0.403000													22	45					0	0	0.004656	0	0
TMEM57	55219	broad.mit.edu	37	1	25784986	25784986	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:25784986C>T	ENST00000374343.4	+	6	936	c.757C>T	c.(757-759)Cga>Tga	p.R253*	TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000470035.1_3'UTR	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	253						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		GATAGAATACCGAGAAAAAGG	0.373000													39	59					0	0	0.008740	0	0
RBM46	166863	broad.mit.edu	37	4	155719258	155719258	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:155719258C>T	ENST00000510397.1	+	3	626	c.447C>T	c.(445-447)ccC>ccT	p.P149P	RBM46_ENST00000514866.1_Silent_p.P149P|RBM46_ENST00000281722.3_Silent_p.P149P	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	149	RRM 2.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GAGCTATTCCCAAGGAAAAGA	0.328000													19	17					0	0	0.008871	0	0
OR4C15	81309	broad.mit.edu	37	11	55322720	55322720	+	Missense_Mutation	SNP	G	G	A	rs149965163		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:55322720G>A	ENST00000314644.2	+	1	938	c.938G>A	c.(937-939)cGa>cAa	p.R313Q		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GTATATACACGACCTCCATCT	0.403000										HNSCC(20;0.049)			63	96					0	0	0.014410	0	0
SEC24C	9632	broad.mit.edu	37	10	75529378	75529378	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:75529378C>T	ENST00000339365.2	+	20	2731	c.2569C>T	c.(2569-2571)Cgg>Tgg	p.R857W	SEC24C_ENST00000345254.4_Missense_Mutation_p.R857W|SEC24C_ENST00000411652.2_Missense_Mutation_p.R738W|SEC24C_ENST00000540668.1_Missense_Mutation_p.R105W|SEC24C_ENST00000535742.1_Missense_Mutation_p.R105W|SEC24C_ENST00000496827.1_3'UTR	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	857					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	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TCCAGCATATCGGGGAGTCCT	0.542000													14	29					0	0	0.004007	0	0
NOS1	4842	broad.mit.edu	37	12	117768619	117768619	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:117768619C>T	ENST00000317775.6	-	2	941	c.256G>A	c.(256-258)Ggc>Agc	p.G86S	NOS1_ENST00000344089.3_Missense_Mutation_p.G86S|NOS1_ENST00000338101.4_Missense_Mutation_p.G86S	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	86	Interaction with NOSIP (By similarity).|PDZ.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GAGGCAATGCCTCTGAGTACC	0.602000													30	17					0	0	0.012213	0	0
CNTN2	6900	broad.mit.edu	37	1	205042356	205042356	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:205042356G>A	ENST00000331830.4	+	22	3289	c.3005G>A	c.(3004-3006)aGg>aAg	p.R1002K		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	1002	Fibronectin type-III 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACATCGTGAGGAATGGAGGT	0.562000													21	58					0	0	0.014323	0	0
NME9	347736	broad.mit.edu	37	3	138025309	138025309	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:138025309C>T	ENST00000383180.2	-	8	528	c.291G>A	c.(289-291)agG>agA	p.R97R	NME9_ENST00000333911.3_Silent_p.R158R|NME9_ENST00000317876.4_Silent_p.R97R|NME9_ENST00000484930.1_Silent_p.R95R|NME9_ENST00000536478.1_Silent_p.R97R|NME9_ENST00000341790.5_Silent_p.R95R	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	158	Thioredoxin.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										AGGTACAGGTCCTCTCTGATG	0.453000													19	223					0	0	0.003330	0	0
FCAR	2204	broad.mit.edu	37	19	55401169	55401169	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55401169G>A	ENST00000355524.3	+	5	814	c.804G>A	c.(802-804)tgG>tgA	p.W268*	FCAR_ENST00000391725.3_Nonsense_Mutation_p.W246*|FCAR_ENST00000391723.3_3'UTR|FCAR_ENST00000391724.3_Nonsense_Mutation_p.W234*|FCAR_ENST00000359272.4_Nonsense_Mutation_p.W256*|FCAR_ENST00000345937.4_Nonsense_Mutation_p.W172*|FCAR_ENST00000353758.4_Nonsense_Mutation_p.W159*|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391726.3_Nonsense_Mutation_p.W160*	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	268					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		AACCGAGCTGGAGCCAACAGA	0.547000													55	106					0	0	0.014410	0	0
IGHV1-69	28461	broad.mit.edu	37	14	107170136	107170136	+	RNA	SNP	C	C	T	rs141856656	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:107170136C>T	ENST00000390633.2	-	0	206																											AGCATAGCTGCTGAAGGTGCC	0.587000													16	80					0	0	0.003163	0	0
RIMBP3	85376	broad.mit.edu	37	22	20457175	20457175	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:20457175T>A	ENST00000426804.1	-	1	4611	c.4127A>T	c.(4126-4128)cAt>cTt	p.H1376L		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CAAAACGTTATGGAAGTCAGA	0.582000													13	79					0	0	0.002450	0	0
MUC16	94025	broad.mit.edu	37	19	9062601	9062601	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9062601G>A	ENST00000397910.4	-	3	25048	c.24845C>T	c.(24844-24846)tCc>tTc	p.S8282F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8284	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						TAATGTAGAGGAAACAGGAGA	0.512000													5	54					0	0	0.001168	0	0
CD207	50489	broad.mit.edu	37	2	71061125	71061125	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:71061125C>T	ENST00000410009.3	-	3	262	c.217G>A	c.(217-219)Gat>Aat	p.D73N		NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	73					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GTCTTTACATCTGATATGGTG	0.512000													7	9					0	0	0.001984	0	0
SBF1	6305	broad.mit.edu	37	22	50885667	50885667	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:50885667C>T	ENST00000380817.2	-	41	5769	c.5586G>A	c.(5584-5586)gtG>gtA	p.V1862V	SBF1_ENST00000348911.6_Silent_p.V1837V|SBF1_ENST00000390679.3_Silent_p.V1836V	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1836	PH.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GCGTTGTCTTCACCTGGGGAA	0.657000													14	19					0	0	0.002450	0	0
ANKRD55	79722	broad.mit.edu	37	5	55407155	55407155	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:55407155G>A	ENST00000341048.4	-	10	1571	c.1420C>T	c.(1420-1422)Cga>Tga	p.R474*	ANKRD55_ENST00000504958.2_Nonsense_Mutation_p.R431*|ANKRD55_ENST00000434982.2_Nonsense_Mutation_p.R186*	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	473										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TGCTCACTTCGACTTTTCTGA	0.468000													16	48					0	0	0.004007	0	0
FAT4	79633	broad.mit.edu	37	4	126412820	126412820	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:126412820A>G	ENST00000394329.3	+	17	14856	c.14843A>G	c.(14842-14844)aAa>aGa	p.K4948R	FAT4_ENST00000335110.5_Missense_Mutation_p.K3189R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4948					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						GATGTTTTTAAAGATTTGGCA	0.473000													17	7					0	0	0.007413	0	0
EPX	8288	broad.mit.edu	37	17	56271404	56271404	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:56271404C>T	ENST00000225371.5	+	5	655	c.545C>T	c.(544-546)cCc>cTc	p.P182L		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	182					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CTGTCGCTCCCCTTCGGCTGG	0.627000													20	4					0	0	0.010504	0	0
TTN	7273	broad.mit.edu	37	2	179642434	179642434	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179642434C>T	ENST00000589042.1	-	25	4701	c.4477G>A	c.(4477-4479)Gat>Aat	p.D1493N	TTN_ENST00000460472.2_Missense_Mutation_p.D1447N|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.D1493N|TTN_ENST00000359218.5_Missense_Mutation_p.D1447N|TTN_ENST00000342992.6_Missense_Mutation_p.D1493N|TTN_ENST00000342175.6_Missense_Mutation_p.D1447N|TTN_ENST00000591111.1_Missense_Mutation_p.D1493N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1493	Ig-like 6.						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)			CGCTTACCATCATGAAACCAG	0.323000													17	54					0	0	0.006122	0	0
PSG6	5675	broad.mit.edu	37	19	43411915	43411915	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:43411915C>T	ENST00000187910.2	-	4	863	c.798G>A	c.(796-798)cgG>cgA	p.R266R	PSG6_ENST00000292125.2_Silent_p.R266R|PSG6_ENST00000402603.4_Intron	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				AGGTGTAGTTCCGACTCTTAG	0.498000													96	169					0	0	0.014410	0	0
MGAM	8972	broad.mit.edu	37	7	141765264	141765264	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:141765264C>T	ENST00000475668.2	+	38	4668	c.4614C>T	c.(4612-4614)atC>atT	p.I1538I	MGAM_ENST00000549489.2_Silent_p.I1538I			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1538	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGAAGTCTATCATTGGTGCGT	0.597000													6	10					0	0	0.001168	0	0
SLC22A15	55356	broad.mit.edu	37	1	116577854	116577854	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:116577854G>A	ENST00000369503.4	+	7	1121	c.991G>A	c.(991-993)Gat>Aat	p.D331N	SLC22A15_ENST00000481127.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	331					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GAGTGCGGGTGATCTAGGTGG	0.453000													23	51					0	0	0.004656	0	0
VGLL3	389136	broad.mit.edu	37	3	87018049	87018049	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:87018049G>A	ENST00000398399.2	-	3	991	c.628C>T	c.(628-630)Cct>Tct	p.P210S	VGLL3_ENST00000383698.3_Missense_Mutation_p.P210S	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GATGTCAAAGGATAAGGCCAG	0.602000													24	54					0	0	0.003330	0	0
LRRC66	339977	broad.mit.edu	37	4	52861265	52861265	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:52861265G>A	ENST00000343457.3	-	4	1929	c.1923C>T	c.(1921-1923)tcC>tcT	p.S641S		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	641						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CCCTTGCCCCGGACAGCCTTG	0.527000													21	20					0	0	0.002780	0	0
MUC17	140453	broad.mit.edu	37	7	100686975	100686975	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100686975C>A	ENST00000306151.4	+	3	12342	c.12278C>A	c.(12277-12279)aCc>aAc	p.T4093N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4093						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCACCATGACCACCAGGACA	0.562000													21	38					1.85244e-09	2.02292e-09	0.003330	1	0
ZNF812	729648	broad.mit.edu	37	19	9801846	9801846	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9801846C>T	ENST00000457674.2	-	5	851	c.333G>A	c.(331-333)ggG>ggA	p.G111G	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	111	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CAAAGATGTTCCCTCCATTCT	0.423000													6	40					0	0	0.001168	0	0
GPA33	10223	broad.mit.edu	37	1	167032879	167032879	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:167032879G>A	ENST00000367868.3	-	4	854	c.511C>T	c.(511-513)Cct>Tct	p.P171S	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	171	Ig-like C2-type.					integral to plasma membrane	receptor activity	p.P171S(1)		endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CTGTACTGAGGGGTTGGTGAG	0.572000													34	64					0	0	0.005524	0	0
SCNN1B	6338	broad.mit.edu	37	16	23387119	23387119	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:23387119C>T	ENST00000343070.2	+	8	1389	c.1213C>T	c.(1213-1215)Ctg>Ttg	p.L405L	SCNN1B_ENST00000307331.5_Silent_p.L450L|SCNN1B_ENST00000568085.1_Silent_p.L369L|SCNN1B_ENST00000568923.1_Silent_p.L378L	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	405					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TGGCCACTACCTGTACCCACT	0.612000													14	41					0	0	0.001855	0	0
C1QC	714	broad.mit.edu	37	1	22973756	22973756	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:22973756G>A	ENST00000374639.3	+	3	336	c.218G>A	c.(217-219)gGg>gAg	p.G73E	C1QC_ENST00000374637.1_Missense_Mutation_p.G73E|C1QC_ENST00000374640.4_Missense_Mutation_p.G73E	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	73	Collagen-like.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	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)	GGACCCAAAGGGCAGAAGGGA	0.647000													16	25					0	0	0.004990	0	0
NEB	4703	broad.mit.edu	37	2	152483634	152483634	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:152483634G>A	ENST00000397345.3	-	70	10431	c.10229C>T	c.(10228-10230)gCt>gTt	p.A3410V	NEB_ENST00000172853.10_Missense_Mutation_p.A3167V|NEB_ENST00000603639.1_Missense_Mutation_p.A3410V|NEB_ENST00000427231.2_Missense_Mutation_p.A3410V|NEB_ENST00000604864.1_Missense_Mutation_p.A3410V|NEB_ENST00000409198.1_Missense_Mutation_p.A3167V	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3410					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TATTTCAGCAGCTCTCTTGCA	0.483000													8	47					0	0	0.004482	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320738	79320738	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:79320738C>T	ENST00000428286.1	-	8	6575	c.5375G>A	c.(5374-5376)cGg>cAg	p.R1792Q	PRUNE2_ENST00000376718.3_Missense_Mutation_p.R2151Q			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2151					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.R2151Q(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GACAAACTCCCGTCCAGGCTC	0.512000													37	68					0	0	0.004289	0	0
OR5A1	219982	broad.mit.edu	37	11	59211293	59211293	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:59211293C>A	ENST00000302030.2	+	1	677	c.652C>A	c.(652-654)Ctt>Att	p.L218I		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CCTCCAACTCCTTATCTCCTA	0.542000													40	86					5.43694e-19	5.96981e-19	0.005524	1	0
DAOA	267012	broad.mit.edu	37	13	106142276	106142276	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:106142276G>A	ENST00000329625.5	+	4	373	c.95G>A	c.(94-96)gGa>gAa	p.G32E	DAOA-AS1_ENST00000448407.1_RNA|DAOA_ENST00000375936.3_Missense_Mutation_p.G103E			P59103	DAOA_HUMAN	D-amino acid oxidase activator	103						Golgi apparatus				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					agccatgttggaaaagtcttc	0.498000													4	25					0	0	0.009096	0	0
TFDP1	7027	broad.mit.edu	37	13	114288335	114288335	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:114288335G>T	ENST00000375370.5	+	7	817	c.605G>T	c.(604-606)tGt>tTt	p.C202F	TFDP1_ENST00000544902.1_Missense_Mutation_p.C107F|TFDP1_ENST00000538138.1_Missense_Mutation_p.C107F	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	202					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			GCTCAGGAATGTCAGAACTTA	0.498000										TSP Lung(29;0.18)			10	40					0.000673444	0.000728283	0.008291	1	0
MACF1	23499	broad.mit.edu	37	1	39799709	39799709	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:39799709C>T	ENST00000564288.1	+	37	8226	c.7449C>T	c.(7447-7449)tcC>tcT	p.S2483S	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Silent_p.S2488S|MACF1_ENST00000567887.1_Silent_p.S2520S|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Silent_p.S923S|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2488					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTGTGCAGTCCATTGACAGAG	0.403000													68	129					0	0	0.014410	0	0
NPAP1	23742	broad.mit.edu	37	15	24923641	24923641	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:24923641C>T	ENST00000329468.2	+	1	3101	c.2627C>T	c.(2626-2628)cCt>cTt	p.P876L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		ACCAGTTTTCCTGCACAGGCA	0.507000													8	68					0	0	0.003080	0	0
CACNA1G	8913	broad.mit.edu	37	17	48646258	48646258	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:48646258C>T	ENST00000352832.5	+	2	642	c.270C>T	c.(268-270)gtC>gtT	p.V90V	CACNA1G_ENST00000358244.5_Silent_p.V90V|CACNA1G_ENST00000507896.1_Silent_p.V90V|CACNA1G_ENST00000354983.4_Silent_p.V90V|CACNA1G_ENST00000502264.1_Silent_p.V90V|CACNA1G_ENST00000515411.1_Silent_p.V90V|CACNA1G_ENST00000507609.1_Silent_p.V90V|CACNA1G_ENST00000360761.4_Silent_p.V90V|CACNA1G_ENST00000513964.1_Silent_p.V90V|CACNA1G_ENST00000416767.4_Silent_p.V90V|CACNA1G_ENST00000514717.1_Silent_p.V90V|CACNA1G_ENST00000503485.1_Silent_p.V90V|CACNA1G_ENST00000510366.1_Silent_p.V90V|CACNA1G_ENST00000514181.1_Silent_p.V90V|CACNA1G_ENST00000507336.1_Silent_p.V90V|CACNA1G_ENST00000515165.1_Silent_p.V90V|CACNA1G_ENST00000429973.2_Silent_p.V90V|CACNA1G_ENST00000514079.1_Silent_p.V90V|CACNA1G_ENST00000359106.5_Silent_p.V90V|CACNA1G_ENST00000512389.1_Silent_p.V90V|CACNA1G_ENST00000515765.1_Silent_p.V90V|CACNA1G_ENST00000442258.2_Silent_p.V90V|CACNA1G_ENST00000510115.1_Silent_p.V90V|CACNA1G_ENST00000507510.2_Silent_p.V90V|CACNA1G_ENST00000513689.2_Silent_p.V90V|CACNA1G_ENST00000505165.1_Silent_p.V90V	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	90					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCATGTTGGTCATCCTTCTCA	0.622000													24	14					0	0	0.005443	0	0
VCAN	1462	broad.mit.edu	37	5	82832870	82832870	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:82832870G>A	ENST00000265077.3	+	8	4613	c.4048G>A	c.(4048-4050)Gaa>Aaa	p.E1350K	VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.E363K|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1350	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.E1350*(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AATAGATTCAGAATCTAAAGA	0.338000													4	26					0	0	0.009096	0	0
C3P1	388503	broad.mit.edu	37	19	10158123	10158123	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:10158123C>T	ENST00000495140.1	+	0	1331																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TTTCAGGGATCGCCAGGCCAA	0.428000													17	58					0	0	0.006122	0	0
PEX5L	51555	broad.mit.edu	37	3	179597774	179597774	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:179597774C>T	ENST00000467460.1	-	5	778	c.448G>A	c.(448-450)Gat>Aat	p.D150N	PEX5L_ENST00000485199.1_Missense_Mutation_p.D115N|PEX5L_ENST00000476138.1_Missense_Mutation_p.D107N|PEX5L_ENST00000472994.1_Missense_Mutation_p.D91N|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000467440.2_Intron|PEX5L_ENST00000465751.1_Missense_Mutation_p.D126N|PEX5L_ENST00000464614.1_Intron|PEX5L_ENST00000392649.3_Intron|PEX5L_ENST00000263962.8_Missense_Mutation_p.D148N|PEX5L-AS1_ENST00000466064.1_RNA	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	150					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TGCTCAGCATCCGTGCTGATG	0.517000													29	35					0	0	0.010818	0	0
NCKAP5	344148	broad.mit.edu	37	2	133539967	133539967	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:133539967C>T	ENST00000409261.1	-	14	4790	c.4417G>A	c.(4417-4419)Gaa>Aaa	p.E1473K	NCKAP5_ENST00000317721.6_Missense_Mutation_p.E1473K|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1473							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ACCTTTTCTTCGATTGTGGGT	0.502000													21	24					0	0	0.008871	0	0
RGS22	26166	broad.mit.edu	37	8	101016271	101016271	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:101016271C>T	ENST00000360863.6	-	17	2704	c.2510G>A	c.(2509-2511)cGa>cAa	p.R837Q	RGS22_ENST00000523437.1_Missense_Mutation_p.R825Q|RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523287.1_Missense_Mutation_p.R656Q	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	837					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.R837Q(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATATTCTGTTCGTTTAGAGAC	0.353000													18	33					0	0	0.010504	0	0
APOA5	116519	broad.mit.edu	37	11	116661636	116661636	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:116661636C>T	ENST00000542499.1	-	4	381	c.309G>A	c.(307-309)gtG>gtA	p.V103V	APOA5_ENST00000227665.4_Silent_p.V103V	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN	apolipoprotein A-V	103					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		GGCGAGCCTTCACCTCCTCCA	0.642000													25	274					0	0	0.003330	0	0
SNHG14	104472715	broad.mit.edu	37	15	25477588	25477588	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:25477588C>T	ENST00000453082.2	+	0	1700				SNORD115-34_ENST00000362441.1_RNA	NR_003343.1																						ACTTAAAAATCATGCTCAATA	0.522000													40	137					0	0	0.014410	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723398	58723398	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:58723398A>T	ENST00000300079.5	+	7	950	c.900A>T	c.(898-900)gaA>gaT	p.E300D	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Missense_Mutation_p.E269D	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	269						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	TGTTGGAAGAAAATGAAGACT	0.443000													14	38					0	0	0.003163	0	0
SLC26A4	5172	broad.mit.edu	37	7	107303820	107303820	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:107303820G>A	ENST00000265715.3	+	3	468	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	82					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CCGAGTCAAGGAATGGCTGCT	0.488000									Pendred syndrome				17	69					0	0	0.006122	0	0
OR13F1	138805	broad.mit.edu	37	9	107266684	107266684	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:107266684C>T	ENST00000334726.2	+	1	230	c.141C>T	c.(139-141)tcC>tcT	p.S47S		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTCTGATCTCCATCACCATTC	0.478000													37	62					0	0	0.007835	0	0
DIAPH1	1729	broad.mit.edu	37	5	140908359	140908359	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140908359G>A	ENST00000253811.6	-	22	3071	c.2931C>T	c.(2929-2931)ctC>ctT	p.L977L	DIAPH1_ENST00000518047.1_Silent_p.L964L|DIAPH1_ENST00000520569.1_Silent_p.L919L|DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000389057.5_Silent_p.L967L|DIAPH1_ENST00000398562.2_Silent_p.L952L|DIAPH1_ENST00000398566.3_Silent_p.L968L|DIAPH1_ENST00000389054.3_Silent_p.L973L|DIAPH1_ENST00000398557.4_Silent_p.L976L			O60610	DIAP1_HUMAN	diaphanous-related formin 1	976	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAATCTCTAGGAGATTGGAAA	0.443000													17	32					0	0	0.006122	0	0
GJA10	84694	broad.mit.edu	37	6	90604965	90604965	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:90604965C>T	ENST00000369352.1	+	1	778	c.778C>T	c.(778-780)Cat>Tat	p.H260Y		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	260					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CCCTCCATTCCATTTGAAGAA	0.398000													15	35					0	0	0.002450	0	0
BCLAF1	9774	broad.mit.edu	37	6	136590624	136590624	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:136590624C>T	ENST00000531224.1	-	9	2422	c.2170G>A	c.(2170-2172)Gaa>Aaa	p.E724K	BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E724K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E722K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E722K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E722K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.E551K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	724					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)		GGAGTTTTTTCCTGCTTTCTT	0.393000													5	54					0	0	0.000602	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145773399	145773399	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:145773399G>A	ENST00000276826.5	-	4	1272	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	ARHGAP39_ENST00000540274.1_Silent_p.L357L|ARHGAP39_ENST00000377307.2_Silent_p.L357L			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	357	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TGTTGGGCTGGAGGAACGGCC	0.697000													8	18					0	0	0.003080	0	0
HSD17B13	345275	broad.mit.edu	37	4	88243985	88243985	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:88243985G>A	ENST00000328546.4	-	1	73	c.9C>T	c.(7-9)atC>atT	p.I3I	RP11-529H2.2_ENST00000508163.1_RNA|HSD17B13_ENST00000302219.6_Silent_p.I3I	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	3						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TTTCTAGGATGATGTTCATGG	0.488000													9	4					0	0	0.008291	0	0
OR51L1	119682	broad.mit.edu	37	11	5021147	5021147	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5021147G>A	ENST00000321543.1	+	1	935	c.935G>A	c.(934-936)aGg>aAg	p.R312K		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTTGTCCTAAGGAGGAGGTTT	0.403000													16	27					0	0	0.004990	0	0
NRDE2	55051	broad.mit.edu	37	14	90755487	90755487	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:90755487G>A	ENST00000354366.3	-	11	2464	c.2232C>T	c.(2230-2232)gtC>gtT	p.V744V	NRDE2_ENST00000357904.3_Silent_p.V513V	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		GGCACCAAATGACCTACAGGG	0.438000													45	82					0	0	0.009718	0	0
IGHG4	3503	broad.mit.edu	37	14	106091375	106091375	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:106091375C>T	ENST00000390543.2	-	0	518																											TGAACTGCTCCTCCCGCGGCT	0.592000													34	206					0	0	0.013726	0	0
FREM1	158326	broad.mit.edu	37	9	14759820	14759820	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:14759820C>T	ENST00000380881.4	-	29	6102	c.5287G>A	c.(5287-5289)Gaa>Aaa	p.E1763K	FREM1_ENST00000380880.3_Missense_Mutation_p.E1762K|FREM1_ENST00000380894.1_Missense_Mutation_p.E298K|FREM1_ENST00000422223.2_Missense_Mutation_p.E1762K|FREM1_ENST00000486223.1_5'UTR			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1762	Calx-beta.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTGATAATTTCCAAGGGCAAC	0.388000													27	51					0	0	0.006320	0	0
ATP13A4	84239	broad.mit.edu	37	3	193132532	193132532	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:193132532C>T	ENST00000342695.4	-	26	3172	c.2850G>A	c.(2848-2850)ctG>ctA	p.L950L	ATP13A4_ENST00000392443.3_Silent_p.L931L|ATP13A4_ENST00000400270.2_5'UTR	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	950					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AGGCACCATTCAGATTCACTA	0.408000													8	29					0	0	0.004482	0	0
RBM27	54439	broad.mit.edu	37	5	145608560	145608560	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:145608560C>T	ENST00000265271.5	+	4	521	c.355C>T	c.(355-357)Cct>Tct	p.P119S	RBM27_ENST00000506502.1_Missense_Mutation_p.P119S	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	119					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)			AAAGAAATATCCTAGTCCCCA	0.413000													18	45					0	0	0.008871	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43862502	43862502	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:43862502G>A	ENST00000389420.3	-	8	1123	c.1124C>T	c.(1123-1125)tCa>tTa	p.S375L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S375L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	375	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding	p.S375L(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACCTAAATATGATAAACCTGA	0.308000													30	18					0	0	0.003271	0	0
LMTK3	114783	broad.mit.edu	37	19	49001288	49001288	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:49001288C>T	ENST00000600059.1	-	11	3265	c.3038G>A	c.(3037-3039)aGg>aAg	p.R1013K	LMTK3_ENST00000270238.3_Missense_Mutation_p.R1042K					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CTCCGTGTTCCTGGGGAATCT	0.662000													24	52					0	0	0.014323	0	0
SSTR5	6755	broad.mit.edu	37	16	1129933	1129933	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:1129933C>T	ENST00000293897.4	+	1	1153	c.1065C>T	c.(1063-1065)gcC>gcT	p.A355A	SSTR5_ENST00000397547.2_Silent_p.A355A|SSTR5_ENST00000562758.1_Intron	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	355					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	GCGCCGCAGCCAACGGGCTTA	0.716000													10	8					0	0	0.008291	0	0
MUC16	94025	broad.mit.edu	37	19	9060940	9060940	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9060940G>A	ENST00000397910.4	-	3	26709	c.26506C>T	c.(26506-26508)Cct>Tct	p.P8836S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8838	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						ACATCCTCAGGACCTCTGCTC	0.527000													35	63					0	0	0.004878	0	0
AKAP9	10142	broad.mit.edu	37	7	91718797	91718797	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:91718797G>A	ENST00000359028.2	+	38	9549	c.9324G>A	c.(9322-9324)agG>agA	p.R3108R	AKAP9_ENST00000358100.2_Silent_p.R3054R|AKAP9_ENST00000356239.3_Silent_p.R3104R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3108					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGAATGGTAGGAAAATTACTC	0.393000			T	BRAF	papillary thyroid								7	42					0	0	0.001984	0	0
DIDO1	11083	broad.mit.edu	37	20	61513529	61513529	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:61513529G>A	ENST00000266070.4	-	16	4104	c.3779C>T	c.(3778-3780)tCg>tTg	p.S1260L	DIDO1_ENST00000395343.1_Missense_Mutation_p.S1260L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1260	Pro-rich.				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)					AGGCGGCGGCGACCCAGGAGG	0.617000													47	127					0	0	0.014410	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	161961	161961	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:161961C>T	ENST00000283426.6	+	10	1533	c.1483C>T	c.(1483-1485)Cag>Tag	p.Q495*		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	495					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGAAATGGTCCAGGATTTCAG	0.597000													7	28					0	0	0.003080	0	0
OR8J1	219477	broad.mit.edu	37	11	56128269	56128269	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:56128269C>T	ENST00000303039.3	+	1	579	c.547C>T	c.(547-549)Cct>Tct	p.P183S		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)					TGATAATGTTCCTCTGTTAGC	0.338000													11	34					0	0	0.008291	0	0
ABCA12	26154	broad.mit.edu	37	2	215833510	215833510	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:215833510C>T	ENST00000272895.7	-	38	5931	c.5712G>A	c.(5710-5712)ggG>ggA	p.G1904G	ABCA12_ENST00000389661.4_Silent_p.G1586G	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1904					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCAAAGGCAGCCCAAAACTCC	0.343000													50	99					0	0	0.014410	0	0
CTGF	1490	broad.mit.edu	37	6	132270418	132270418	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:132270418C>T	ENST00000367976.3	-	5	1236	c.1036G>A	c.(1036-1038)Gga>Aga	p.G346R		NM_001901.2	NP_001892.1	P29279	CTGF_HUMAN	connective tissue growth factor	346	Heparin-binding.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GCCATGTCTCCGTACATCTTC	0.418000													29	63					0	0	0.013726	0	0
COL4A4	1286	broad.mit.edu	37	2	227907822	227907822	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:227907822G>A	ENST00000396625.3	-	36	3575	c.3368C>T	c.(3367-3369)cCt>cTt	p.P1123L	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1123L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1123	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGAGGAGCCAGGTGGCCCTGG	0.542000													13	23					0	0	0.003163	0	0
PIWIL1	9271	broad.mit.edu	37	12	130833935	130833935	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:130833935C>T	ENST00000245255.3	+	8	1158	c.886C>T	c.(886-888)Caa>Taa	p.Q296*		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	296	PAZ.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ACATAAATTTCAAGAACAAGT	0.343000													5	11					0	0	0.001984	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	161927	161927	+	Silent	SNP	G	G	A	rs116463546	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:161927G>A	ENST00000283426.6	+	10	1499	c.1449G>A	c.(1447-1449)gcG>gcA	p.A483A		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	483					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TACAGCTGGCGAAGGAGAACC	0.587000													12	27					0	0	0.013537	0	0
FAM105A	54491	broad.mit.edu	37	5	14607445	14607445	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:14607445G>A	ENST00000274217.3	+	6	625	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	169										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					CAAGCTTCCTGAAAAACTGCT	0.368000													15	33					0	0	0.004990	0	0
BDNF	627	broad.mit.edu	37	11	27679880	27679880	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:27679880G>A	ENST00000525528.1	-	1	1325	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	BDNF_ENST00000395986.2_Missense_Mutation_p.R93W|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000420794.1_Missense_Mutation_p.R78W|BDNF_ENST00000532997.1_Missense_Mutation_p.R78W|BDNF_ENST00000314915.6_Missense_Mutation_p.R86W|BDNF_ENST00000438929.1_Missense_Mutation_p.R160W|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000530861.1_Missense_Mutation_p.R78W|BDNF_ENST00000395981.3_Missense_Mutation_p.R78W|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000533131.1_Missense_Mutation_p.R78W|BDNF_ENST00000356660.4_Missense_Mutation_p.R78W|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000418212.1_Missense_Mutation_p.R78W|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000525950.1_Missense_Mutation_p.R78W|BDNF-AS_ENST00000501176.2_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000584049.1_5'UTR|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000533246.1_Missense_Mutation_p.R78W|BDNF_ENST00000439476.2_Missense_Mutation_p.R78W|BDNF_ENST00000395978.3_Missense_Mutation_p.R78W|BDNF_ENST00000395980.2_Missense_Mutation_p.R78W|BDNF_ENST00000395983.3_Missense_Mutation_p.R78W	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	78						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						TCATTGGGCCGAACTTTCTGG	0.502000													23	103					0	0	0.003330	0	0
CLIP4	79745	broad.mit.edu	37	2	29397296	29397296	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:29397296G>A	ENST00000320081.5	+	15	2036	c.1781G>A	c.(1780-1782)aGa>aAa	p.R594K	CLIP4_ENST00000401617.2_Missense_Mutation_p.R487K|CLIP4_ENST00000404424.1_Missense_Mutation_p.R594K|CLIP4_ENST00000401605.1_Missense_Mutation_p.R594K	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	594										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					ATTAACAGAAGAAATGCTTTT	0.348000													23	38					0	0	0.014323	0	0
MICAL1	64780	broad.mit.edu	37	6	109769148	109769148	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:109769148G>A	ENST00000368952.4	-	14	2221	c.1931C>T	c.(1930-1932)tCc>tTc	p.S644F	MICAL1_ENST00000358807.3_Missense_Mutation_p.S625F|MICAL1_ENST00000358577.3_Missense_Mutation_p.S539F			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	625					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GGTCCCTGGGGAGGCCTGGCT	0.592000													9	37					0	0	0.008291	0	0
PLS1	5357	broad.mit.edu	37	3	142403152	142403152	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:142403152C>T	ENST00000337777.3	+	8	1016	c.803C>T	c.(802-804)cCc>cTc	p.P268L	PLS1_ENST00000457734.2_Missense_Mutation_p.P268L|PLS1_ENST00000497002.1_Missense_Mutation_p.P268L	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	268	Actin-binding 1.|CH 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						AAGCTTTCTCCCGAGGAATTA	0.428000													12	35					0	0	0.001855	0	0
FLG2	388698	broad.mit.edu	37	1	152325322	152325322	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152325322C>T	ENST00000388718.5	-	3	5012	c.4940G>A	c.(4939-4941)gGa>gAa	p.G1647E	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1647							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)			TCTCTGTCTTCCAGTTGTCCT	0.512000													75	195					0	0	0.014410	0	0
WEE1	7465	broad.mit.edu	37	11	9608075	9608075	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:9608075C>T	ENST00000299613.6	+	9	1663	c.908C>T	c.(907-909)cCg>cTg	p.P303L	WEE1_ENST00000450114.2_Missense_Mutation_p.P517L	NM_001143976.1	NP_001137448.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	517	Protein kinase.				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		GAACCTCTTCCGAGAAATGGA	0.403000													28	38					0	0	0.008361	0	0
EGFR	1956	broad.mit.edu	37	7	55259426	55259426	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:55259426G>A	ENST00000275493.2	+	21	2661	c.2484G>A	c.(2482-2484)ttG>ttA	p.L828L	EGFR_ENST00000454757.2_Silent_p.L775L|EGFR_ENST00000455089.1_Silent_p.L783L|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	828	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGAACTACTTGGAGGACCGTC	0.542000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			14	60					0	0	0.004007	0	0
POLR1B	84172	broad.mit.edu	37	2	113316947	113316947	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:113316947C>T	ENST00000263331.5	+	9	1988	c.1408C>T	c.(1408-1410)Cgc>Tgc	p.R470C	POLR1B_ENST00000417433.2_Missense_Mutation_p.R414C|POLR1B_ENST00000498054.1_3'UTR|POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000541869.1_Missense_Mutation_p.R508C|POLR1B_ENST00000537335.1_Missense_Mutation_p.R259C	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	470					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CTCCCATTTCCGCTGCGTGCA	0.517000													37	134					0	0	0.004878	0	0
TREML4	285852	broad.mit.edu	37	6	41197835	41197835	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:41197835C>T	ENST00000341495.2	+	4	585	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S	TREML4_ENST00000448827.2_Missense_Mutation_p.P161S	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	161						extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					CTCTGGCCATCCCTCCATCAA	0.537000													36	71					0	0	0.009718	0	0
DNAH5	1767	broad.mit.edu	37	5	13865808	13865808	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:13865808T>A	ENST00000265104.4	-	27	4428	c.4324A>T	c.(4324-4326)Att>Ttt	p.I1442F	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1442	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCATTGTTAATTTTTTCAATA	0.318000									Kartagener syndrome				12	30					0	0	0.001855	0	0
ACRBP	84519	broad.mit.edu	37	12	6749294	6749294	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:6749294C>T	ENST00000229243.2	-	8	1450	c.1357G>A	c.(1357-1359)Gat>Aat	p.D453N	ACRBP_ENST00000542357.1_5'UTR|ACRBP_ENST00000414226.2_Missense_Mutation_p.D420N	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	453						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						ACTCGGACATCTTCACAGCCT	0.567000													20	17					0	0	0.014323	0	0
SLC39A10	57181	broad.mit.edu	37	2	196581636	196581636	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:196581636G>A	ENST00000409086.3	+	7	2247	c.1972G>A	c.(1972-1974)Gga>Aga	p.G658R	SLC39A10_ENST00000359634.5_Missense_Mutation_p.G658R|SLC39A10_ENST00000541054.1_Missense_Mutation_p.G208R	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	658					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			CTGTCATTCTGGATCCGATCT	0.488000													26	31					0	0	0.006320	0	0
CDH16	1014	broad.mit.edu	37	16	66947106	66947106	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:66947106C>T	ENST00000299752.4	-	9	1175	c.982G>A	c.(982-984)Gat>Aat	p.D328N	CDH16_ENST00000570262.1_Missense_Mutation_p.D248N|CDH16_ENST00000394055.3_Missense_Mutation_p.D328N|CDH16_ENST00000565796.1_Missense_Mutation_p.D328N|CDH16_ENST00000568632.1_Missense_Mutation_p.D231N	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	328	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TCATTCTCATCCATCACCAGC	0.617000											OREG0007817	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CDH16|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	26	63					0	0	0.005443	0	0
INSR	3643	broad.mit.edu	37	19	7172349	7172349	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:7172349G>A	ENST00000341500.5	-	5	1259	c.1220C>T	c.(1219-1221)tCc>tTc	p.S407F	INSR_ENST00000302850.5_Missense_Mutation_p.S407F	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	407					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCGGAAGAAGGAAAGTGACAC	0.488000													51	308					0	0	0.014410	0	0
CHDC2	286464	broad.mit.edu	37	X	36090074	36090074	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:36090074G>A	ENST00000378660.1	+	3	364	c.176G>A	c.(175-177)gGa>gAa	p.G59E	CHDC2_ENST00000313548.4_Missense_Mutation_p.G59E					calponin homology domain containing 2																		CCTGCAAAGGGAAACTTATTT	0.358000													11	10					0	0	0.008291	0	0
CADPS2	93664	broad.mit.edu	37	7	122221237	122221237	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:122221237C>T	ENST00000334010.7	-	7	1752	c.1331G>A	c.(1330-1332)gGa>gAa	p.G444E	CADPS2_ENST00000449022.2_Missense_Mutation_p.G444E|CADPS2_ENST00000476131.1_5'UTR|CADPS2_ENST00000313070.7_Missense_Mutation_p.G444E|CADPS2_ENST00000412584.2_Missense_Mutation_p.G444E	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	444	C2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						ACTCACCCTTCCCAGTTCTTT	0.453000													38	55					0	0	0.009718	0	0
KIF9	64147	broad.mit.edu	37	3	47286411	47286411	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:47286411C>T	ENST00000335044.2	-	15	1741	c.1384G>A	c.(1384-1386)Ggg>Agg	p.G462R	KIF9_ENST00000452770.2_Missense_Mutation_p.G462R|KIF9_ENST00000444589.2_Missense_Mutation_p.G462R|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000265529.3_Missense_Mutation_p.G462R|KIF9_ENST00000352910.4_Missense_Mutation_p.G369R|KIF9-AS1_ENST00000429315.3_RNA	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	462					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TCCACAAGCCCCGCCTACATA	0.542000													13	28					0	0	0.002450	0	0
GUCY2C	2984	broad.mit.edu	37	12	14781642	14781642	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:14781642C>T	ENST00000261170.3	-	20	2323	c.2187G>A	c.(2185-2187)gaG>gaA	p.E729E		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	729	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CTGGATCTTCCTCCCAACAGT	0.343000													31	24					0	0	0.003755	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324206	61324206	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:61324206G>A	ENST00000283752.5	-	7	770	c.627C>T	c.(625-627)tcC>tcT	p.S209S	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Intron	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	209					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TCATCTGTATGGACTTGTATG	0.373000													7	18					0	0	0.003080	0	0
SCIN	85477	broad.mit.edu	37	7	12668822	12668822	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:12668822C>T	ENST00000297029.5	+	9	1395	c.1294C>T	c.(1294-1296)Ccc>Tcc	p.P432S	SCIN_ENST00000519209.1_Missense_Mutation_p.P185S|SCIN_ENST00000445618.2_Missense_Mutation_p.P185S	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	432	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CTACACCTATCCCAGAGGACA	0.413000													29	70					0	0	0.010818	0	0
OR2M2	391194	broad.mit.edu	37	1	248343415	248343415	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248343415C>T	ENST00000359682.2	+	1	128	c.128C>T	c.(127-129)tCt>tTt	p.S43F		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	43					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)			ATGGGAAACTCTGTCATGGTT	0.527000													91	166					0	0	0.014410	0	0
OR52H1	390067	broad.mit.edu	37	11	5566366	5566366	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5566366G>A	ENST00000322653.4	-	1	413	c.388C>T	c.(388-390)Cac>Tac	p.H130Y	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	130			H -> R (in dbSNP:rs1566275).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTACATAGTGATCAAATGCC	0.453000													12	25					0	0	0.013537	0	0
KCTD8	386617	broad.mit.edu	37	4	44176933	44176933	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:44176933C>T	ENST00000360029.3	-	2	1579	c.1296G>A	c.(1294-1296)gaG>gaA	p.E432E		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	432						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CACTTAGCTTCTCACAGACTT	0.413000										HNSCC(17;0.042)			72	57					0	0	0.014410	0	0
SDC3	9672	broad.mit.edu	37	1	31350045	31350045	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:31350045G>A	ENST00000336798.7	-	1	1542	c.50C>T	c.(49-51)tCc>tTc	p.S17F	SDC3_ENST00000471567.1_Intron|SDC3_ENST00000339394.6_Intron			O75056	SDC3_HUMAN	syndecan 3	349						integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GAGAGCTAGGGAGCTGGGTGG	0.577000													9	16					0	0	0.004482	0	0
RNF113B	140432	broad.mit.edu	37	13	98828564	98828564	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:98828564C>T	ENST00000267291.6	-	1	955	c.927G>A	c.(925-927)gcG>gcA	p.A309A	FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000595437.1_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	309							nucleic acid binding|zinc ion binding	p.A309A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TTTGCAGTTTCGCCATCAGTT	0.572000													26	46					0	0	0.008361	0	0
PLCE1	51196	broad.mit.edu	37	10	95892155	95892155	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:95892155G>A	ENST00000260766.3	+	3	2065	c.1431G>A	c.(1429-1431)ttG>ttA	p.L477L	PLCE1_ENST00000371380.2_Silent_p.L477L|PLCE1_ENST00000371385.3_Silent_p.L169L|PLCE1_ENST00000371375.1_Silent_p.L169L	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	477					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCACGTCTTTGGGAGCAAGAA	0.453000													9	47					0	0	0.006214	0	0
PDZD2	23037	broad.mit.edu	37	5	32000348	32000348	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:32000348G>A	ENST00000438447.1	+	5	1613	c.1225G>A	c.(1225-1227)Gga>Aga	p.G409R	PDZD2_ENST00000282493.3_Missense_Mutation_p.G409R			O15018	PDZD2_HUMAN	PDZ domain containing 2	409	PDZ 2.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTCCGCCACGGGAATGGTGCA	0.557000													18	80					0	0	0.012319	0	0
RFX5	5993	broad.mit.edu	37	1	151314724	151314724	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:151314724C>T	ENST00000290524.4	-	11	1967	c.1789G>A	c.(1789-1791)Gag>Aag	p.E597K	RFX5_ENST00000368870.2_Missense_Mutation_p.E597K|RFX5_ENST00000452671.2_Missense_Mutation_p.E597K|RFX5_ENST00000452513.2_Missense_Mutation_p.E557K	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	597						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGCACATGCTCCTTTAAGTCT	0.463000													44	60					0	0	0.011902	0	0
SLC26A5	375611	broad.mit.edu	37	7	103061245	103061245	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:103061245C>T	ENST00000306312.3	-	4	493	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	SLC26A5_ENST00000393729.1_Missense_Mutation_p.E78K|SLC26A5_ENST00000393723.1_Missense_Mutation_p.E78K|SLC26A5_ENST00000432958.2_Missense_Mutation_p.E78K|SLC26A5_ENST00000393727.1_Missense_Mutation_p.E78K|SLC26A5_ENST00000393730.1_Missense_Mutation_p.E78K|SLC26A5_ENST00000393735.2_Missense_Mutation_p.E78K|SLC26A5_ENST00000339444.6_Missense_Mutation_p.E78K|SLC26A5_ENST00000356767.4_Missense_Mutation_p.E78K|SLC26A5_ENST00000354356.4_5'UTR	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	78					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						AACACATATTCCTTGAATTTG	0.413000													22	61					0	0	0.003954	0	0
PTPRT	11122	broad.mit.edu	37	20	40877449	40877449	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:40877449C>T	ENST00000373198.3	-	15	2482	c.2247G>A	c.(2245-2247)caG>caA	p.Q749Q	PTPRT_ENST00000373190.1_Silent_p.Q730Q|PTPRT_ENST00000373184.1_Silent_p.Q730Q|PTPRT_ENST00000356100.2_Silent_p.Q749Q|PTPRT_ENST00000373187.1_Silent_p.Q730Q|PTPRT_ENST00000373193.3_Silent_p.Q730Q|PTPRT_ENST00000373201.1_Silent_p.Q730Q	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	730					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGTTAGAATTCTGGGTGGAGG	0.502000													10	18					0	0	0.010729	0	0
OCIAD2	132299	broad.mit.edu	37	4	48896040	48896040	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:48896040G>A	ENST00000508632.1	-	5	480	c.248C>T	c.(247-249)tCa>tTa	p.S83L	OCIAD2_ENST00000508069.2_5'UTR|OCIAD2_ENST00000273860.4_Missense_Mutation_p.S83L	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2	83	OCIA.					endosome				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						TTTGGGCAATGATCCAAATCT	0.338000													11	17					0	0	0.003163	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64137230	64137230	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:64137230C>T	ENST00000528057.1	+	14	1729	c.1641C>T	c.(1639-1641)ttC>ttT	p.F547F	RPS6KA4_ENST00000294261.4_Intron|RPS6KA4_ENST00000334205.4_Silent_p.F554F	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	554	Protein kinase 2.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						ACTTCGGGTTCGCGCGGTTGC	0.706000													9	13					0	0	0.008291	0	0
EPHA2	1969	broad.mit.edu	37	1	16460021	16460021	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:16460021C>T	ENST00000358432.5	-	10	1973	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	607	Mediates interaction with ARHGEF16 and ELMO2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		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;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GGATGGATCTCGGTAGTGAAC	0.592000													25	34					0	0	0.003954	0	0
NMUR2	56923	broad.mit.edu	37	5	151784563	151784563	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:151784563C>T	ENST00000255262.3	-	1	277	c.112G>A	c.(112-114)Gga>Aga	p.G38R	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	38					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CGCCGAGGTCCGCAGAGGAAG	0.522000													15	23					0	0	0.004007	0	0
PCLO	27445	broad.mit.edu	37	7	82585639	82585639	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82585639C>T	ENST00000423517.2	-	5	4967	c.4630G>A	c.(4630-4632)Gaa>Aaa	p.E1544K	PCLO_ENST00000333891.8_Missense_Mutation_p.E1544K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1475					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGCTGTCTTCCTGTTTATAC	0.408000													18	47					0	0	0.004990	0	0
KRT9	3857	broad.mit.edu	37	17	39727770	39727770	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:39727770C>T	ENST00000246662.4	-	1	540	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	KRT9_ENST00000588431.1_Intron	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	159	Coil 1A.|Rod.			MQELNSRLASYLDK -> HLGAGSTPITASQP (in Ref. 6; AAI21171).	intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	p.E159K(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				GAATTGAGTTCCTGCATGGTG	0.527000													19	9					0	0	0.008871	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724495	38724495	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:38724495G>A	ENST00000342213.2	-	1	1079	c.733C>T	c.(733-735)Ccc>Tcc	p.P245S		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	245	EGF-like.					integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCGGGGCAGGGACACAACACA	0.617000													28	160					0	0	0.013726	0	0
SYNE1	23345	broad.mit.edu	37	6	152847286	152847286	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:152847286C>T	ENST00000367255.5	-	5	755	c.154G>A	c.(154-156)Gat>Aat	p.D52N	SYNE1_ENST00000341594.5_Missense_Mutation_p.D52N|SYNE1_ENST00000367253.4_Missense_Mutation_p.D52N|SYNE1_ENST00000413186.2_Missense_Mutation_p.D52N|SYNE1_ENST00000448038.1_Missense_Mutation_p.D52N|SYNE1_ENST00000367248.3_Missense_Mutation_p.D52N|SYNE1_ENST00000423061.1_Missense_Mutation_p.D52N|SYNE1_ENST00000265368.4_Missense_Mutation_p.D52N|SYNE1_ENST00000466159.2_Missense_Mutation_p.D52N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	52	Actin-binding.|CH 1.				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)		TCAAAAAGATCGTCCACCACC	0.423000										HNSCC(10;0.0054)			25	36					0	0	0.007291	0	0
HECW2	57520	broad.mit.edu	37	2	197184551	197184551	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:197184551C>T	ENST00000260983.2	-	9	1245	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	355					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGCATGTCCTCGTCATCGGAA	0.512000													12	37					0	0	0.013537	0	0
SGSM1	129049	broad.mit.edu	37	22	25264765	25264765	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:25264765G>A	ENST00000400358.4	+	12	1291	c.1234G>A	c.(1234-1236)Gat>Aat	p.D412N	SGSM1_ENST00000400359.4_Missense_Mutation_p.D412N	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	412						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CAAAGATGATGATGAGGCCAC	0.537000													36	61					0	0	0.004289	0	0
FBN2	2201	broad.mit.edu	37	5	127855039	127855039	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:127855039C>T	ENST00000508053.1	-	11	1529	c.555G>A	c.(553-555)caG>caA	p.Q185Q	FBN2_ENST00000262464.4_Silent_p.Q185Q|FBN2_ENST00000508989.1_Silent_p.Q152Q			P35556	FBN2_HUMAN	fibrillin 2	185	EGF-like 3.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GTCCACCATTCTGACATCCAT	0.433000													10	17					0	0	0.010729	0	0
NUP62	23636	broad.mit.edu	37	19	50412799	50412799	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:50412799G>A	ENST00000596217.1	-	2	2153	c.266C>T	c.(265-267)tCt>tTt	p.S89F	IL4I1_ENST00000595948.1_Intron|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597723.1_Missense_Mutation_p.S89F|NUP62_ENST00000413454.1_Missense_Mutation_p.S89F|NUP62_ENST00000597029.1_Missense_Mutation_p.S89F|NUP62_ENST00000352066.3_Missense_Mutation_p.S89F|CTC-326K19.6_ENST00000451973.1_3'UTR|NUP62_ENST00000422090.2_Missense_Mutation_p.S89F			P37198	NUP62_HUMAN	nucleoporin 62kDa	89	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GATCCCCAAAGAAAATCCAGT	0.582000													48	90					0	0	0.014410	0	0
TNFSF15	9966	broad.mit.edu	37	9	117554687	117554687	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:117554687C>T	ENST00000374045.4	-	3	414	c.301_splice	c.e3+1	p.V101_splice		NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	101					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						GGAGGCTTACCTGTCAGGTGT	0.438000													6	21					0	0	0.004482	0	0
LRP1B	53353	broad.mit.edu	37	2	141083357	141083357	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:141083357G>A	ENST00000389484.3	-	80	13285	c.12314C>T	c.(12313-12315)tCa>tTa	p.S4105L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4105					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)		AGAGACTACTGAATTAGAGCC	0.363000										TSP Lung(27;0.18)			7	19					0	0	0.001984	0	0
KLHL1	57626	broad.mit.edu	37	13	70535503	70535503	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:70535503C>T	ENST00000377844.4	-	3	1513	c.754G>A	c.(754-756)Gag>Aag	p.E252K	KLHL1_ENST00000545028.1_Missense_Mutation_p.E59K	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	252	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.E252K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ATTTTGATCTCCTCTTGCTTG	0.408000													12	18					0	0	0.002450	0	0
PRKG1	5592	broad.mit.edu	37	10	54040643	54040643	+	Missense_Mutation	SNP	C	C	T	rs78350819		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:54040643C>T	ENST00000373980.4	+	13	1915	c.1498C>T	c.(1498-1500)Ctc>Ttc	p.L500F	PRKG1-AS1_ENST00000452247.2_RNA|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373985.1_Missense_Mutation_p.L473F|PRKG1_ENST00000373975.2_Missense_Mutation_p.L203F|PRKG1_ENST00000401604.2_Missense_Mutation_p.L485F	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	485	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TTACAGGGACCTCAAGCCAGA	0.413000													11	28					0	0	0.008291	0	0
CIC	23152	broad.mit.edu	37	19	42798205	42798205	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:42798205C>T	ENST00000572681.2	+	18	6945	c.6877C>T	c.(6877-6879)Ctg>Ttg	p.L2293L	CIC_ENST00000160740.3_Silent_p.L1385L|CIC_ENST00000575354.2_Silent_p.L1387L			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCGGGCCATCCTGGGCTCTTA	0.637000			"""Mis, F, S"""		oligodendroglioma								34	60					0	0	0.012213	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072847	17072847	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:17072847G>A	ENST00000359963.3	-	1	853	c.594C>T	c.(592-594)ttC>ttT	p.F198F		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	198					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GCTCAGGCTTGAAGCTGCCGT	0.602000													39	48					0	0	0.006230	0	0
MUC16	94025	broad.mit.edu	37	19	9077766	9077766	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9077766G>A	ENST00000397910.4	-	3	9883	c.9680C>T	c.(9679-9681)tCt>tTt	p.S3227F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3228	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						CTTCCAAGGAGAATTTCTCAC	0.527000													47	122					0	0	0.010771	0	0
MIR519B	574469	broad.mit.edu	37	19	54198488	54198488	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:54198488G>A	ENST00000385090.1	+	0	22					NR_030191.1																						CCTCTAGAGGGAAGCGCTTTC	0.403000													25	67					0	0	0.009535	0	0
ZNF366	167465	broad.mit.edu	37	5	71756184	71756184	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:71756184C>T	ENST00000318442.5	-	2	1630	c.1140G>A	c.(1138-1140)ctG>ctA	p.L380L		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGTGTCTCTTCAGCTGGGCCA	0.627000													8	23					0	0	0.006214	0	0
ADCK1	57143	broad.mit.edu	37	14	78365596	78365596	+	Silent	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:78365596T>C	ENST00000238561.5	+	6	835	c.736T>C	c.(736-738)Ttg>Ctg	p.L246L	ADCK1_ENST00000341211.5_Silent_p.L178L	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	253	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		TTTTGACTTCTTGAAGGTAGG	0.507000													18	72					0	0	0.014323	0	0
SEMA6C	10500	broad.mit.edu	37	1	151108594	151108594	+	Silent	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:151108594A>C	ENST00000341697.3	-	13	2843	c.1152T>G	c.(1150-1152)tcT>tcG	p.S384S				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	384	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGTCTCGGGAAGAGGAGAACA	0.587000													15	39					0	0	0.007413	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56807801	56807801	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:56807801G>A	ENST00000413728.2	-	2	701	c.158C>T	c.(157-159)tCg>tTg	p.S53L	ARHGEF3_ENST00000497267.1_Missense_Mutation_p.S18L|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.S79L|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.S53L|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.S47L|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.S47L	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	47					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GTTTGCTAGCGACGTGACTCG	0.463000													45	87					0	0	0.014410	0	0
RFX6	222546	broad.mit.edu	37	6	117237412	117237412	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:117237412C>T	ENST00000332958.2	+	9	923	c.907C>T	c.(907-909)Ctt>Ttt	p.L303F	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	303					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGACCATCTCCTTCCCCTGCT	0.348000													27	89					0	0	0.009535	0	0
FREM2	341640	broad.mit.edu	37	13	39343905	39343905	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:39343905C>T	ENST00000280481.7	+	4	5817	c.5601C>T	c.(5599-5601)ttC>ttT	p.F1867F		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1867					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCTTGGAATTCCCCACAGTCG	0.532000													18	26					0	0	0.008871	0	0
PROSC	11212	broad.mit.edu	37	8	37633525	37633525	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:37633525C>T	ENST00000328195.3	+	7	754	c.687C>T	c.(685-687)ttC>ttT	p.F229F		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	229							pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	CCGCGGATTTCCAGCATGCGG	0.572000													27	66					0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179456835	179456835	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179456835C>T	ENST00000589042.1	-	302	60020	c.59796G>A	c.(59794-59796)aaG>aaA	p.K19932K	TTN_ENST00000460472.2_Silent_p.K10867K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Silent_p.K10992K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.K17364K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.K11059K|TTN_ENST00000591111.1_Silent_p.K18291K|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18291	Fibronectin type-III 44.						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)			GACTCTTTTTCTTTGATGTAG	0.473000													5	24					0	0	0.001168	0	0
VCX	26609	broad.mit.edu	37	X	7811740	7811740	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:7811740G>A	ENST00000381059.3	+	3	523	c.304G>A	c.(304-306)Gac>Aac	p.D102N	VCX_ENST00000341408.4_Missense_Mutation_p.D102N	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	102	Glu-rich.				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				GACCCAGCACGACCCCCTGAG	0.687000													51	44					0	0	0.014410	0	0
F2RL1	2150	broad.mit.edu	37	5	76128626	76128626	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:76128626C>T	ENST00000296677.4	+	2	400	c.194C>T	c.(193-195)tCt>tTt	p.S65F		NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	65					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		GATGAGTTTTCTGCATCTGTC	0.458000													75	249					0	0	0.014410	0	0
GRHL2	79977	broad.mit.edu	37	8	102582566	102582566	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:102582566G>A	ENST00000251808.3	+	5	1016		c.e5-1		GRHL2_ENST00000395927.1_Splice_Site	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)							cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ATATTTTGCAGAAATTTCGGA	0.333000													22	88					0	0	0.004656	0	0
GLYAT	10249	broad.mit.edu	37	11	58477456	58477456	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:58477456G>A	ENST00000344743.3	-	6	815	c.674C>T	c.(673-675)aCt>aTt	p.T225I	GLYAT_ENST00000529732.1_Missense_Mutation_p.T225I	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	225					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CATCTCTCCAGTCTGGTCCAT	0.562000													12	44					0	0	0.013537	0	0
OR2T11	127077	broad.mit.edu	37	1	248790397	248790397	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248790397G>A	ENST00000330803.2	-	1	94	c.33C>T	c.(31-33)ctC>ctT	p.L11L		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAAGCCCCAGGAGGGTGAAGT	0.522000													18	29					0	0	0.008871	0	0
NUP35	129401	broad.mit.edu	37	2	184016308	184016308	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:184016308C>T	ENST00000295119.4	+	5	573	c.470C>T	c.(469-471)cCt>cTt	p.P157L	NUP35_ENST00000409798.1_Missense_Mutation_p.P140L|NUP35_ENST00000541912.1_Missense_Mutation_p.P22L	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	157					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						CAGTTGGATCCTTTTTATACT	0.398000													11	38					0	0	0.013537	0	0
PCLO	27445	broad.mit.edu	37	7	82583731	82583731	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82583731C>T	ENST00000423517.2	-	5	6875	c.6538G>A	c.(6538-6540)Gac>Aac	p.D2180N	PCLO_ENST00000333891.8_Missense_Mutation_p.D2180N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2111					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAAGGTGTGTCAGAGGGTGGG	0.443000													16	27					0	0	0.004990	0	0
BCO2	83875	broad.mit.edu	37	11	112085548	112085548	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:112085548C>T	ENST00000357685.5	+	10	1531	c.1396C>T	c.(1396-1398)Cct>Tct	p.P466S	BCO2_ENST00000393032.2_Missense_Mutation_p.P432S|BCO2_ENST00000438022.1_Missense_Mutation_p.P432S|BCO2_ENST00000361053.4_Missense_Mutation_p.P393S|BCO2_ENST00000532593.1_Missense_Mutation_p.P361S|BCO2_ENST00000531169.1_Missense_Mutation_p.P432S|BCO2_ENST00000526088.1_Missense_Mutation_p.P432S			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	466					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						CATTGAATTTCCTCAGATCTA	0.398000													16	40					0	0	0.006122	0	0
SLC15A2	6565	broad.mit.edu	37	3	121658222	121658222	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:121658222G>A	ENST00000489711.1	+	20	2176	c.1788G>A	c.(1786-1788)tgG>tgA	p.W596*	SLC15A2_ENST00000295605.2_Nonsense_Mutation_p.W565*	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	596					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TTCAGGCCTGGAAGATTGAAG	0.448000													26	36					0	0	0.008361	0	0
PDK4	5166	broad.mit.edu	37	7	95222119	95222119	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:95222119C>T	ENST00000005178.5	-	4	679	c.482G>A	c.(481-483)cGa>cAa	p.R161Q		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	161	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	p.R161Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			CATGTAAAATCGATCCAAGAA	0.383000													34	30					0	0	0.013726	0	0
SPTBN5	51332	broad.mit.edu	37	15	42166142	42166142	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:42166142G>A	ENST00000320955.6	-	25	5018	c.4791C>T	c.(4789-4791)atC>atT	p.I1597I		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1597					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ACTGCTCCACGATGTGTTGGG	0.647000													6	22					0	0	0.001168	0	0
CPEB3	22849	broad.mit.edu	37	10	93841190	93841190	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:93841190C>T	ENST00000412050.4	-	9	1802	c.1714G>A	c.(1714-1716)Gag>Aag	p.E572K	CPEB3_ENST00000265997.4_Missense_Mutation_p.E586K	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	586	RRM 2.						nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				TACTTCAGCTCTGGGTCCGTA	0.478000													6	29					0	0	0.001984	0	0
SYNE1	23345	broad.mit.edu	37	6	152823854	152823854	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:152823854C>T	ENST00000367255.5	-	10	1403	c.802G>A	c.(802-804)Gag>Aag	p.E268K	SYNE1_ENST00000341594.5_Missense_Mutation_p.E268K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E268K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E268K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E275K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E275K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E275K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E268K|SYNE1_ENST00000466159.2_Missense_Mutation_p.E268K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	268	Actin-binding.|CH 2.				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)		ATAGATTTCTCATCTGGTTTA	0.348000										HNSCC(10;0.0054)			16	23					0	0	0.006122	0	0
NKX3-1	4824	broad.mit.edu	37	8	23538787	23538787	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:23538787G>A	ENST00000380871.4	-	2	689	c.652C>T	c.(652-654)Cct>Tct	p.P218S	NKX3-1_ENST00000523261.1_Missense_Mutation_p.P143S	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	218					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		GGGTAGTAAGGATAGCTGTTA	0.557000													23	50					0	0	0.014323	0	0
FAM184A	79632	broad.mit.edu	37	6	119332557	119332557	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:119332557C>T	ENST00000338891.7	-	6	2013	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	FAM184A_ENST00000522284.1_Missense_Mutation_p.E404K|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Missense_Mutation_p.E524K|FAM184A_ENST00000368475.4_Missense_Mutation_p.E404K|FAM184A_ENST00000352896.5_Missense_Mutation_p.E404K	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	524										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTATCCTCTTCCAGGTTTAGT	0.303000													7	25					0	0	0.001984	0	0
MCTP2	55784	broad.mit.edu	37	15	94899495	94899495	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:94899495C>T	ENST00000357742.4	+	8	1135	c.1135C>T	c.(1135-1137)Cag>Tag	p.Q379*	MCTP2_ENST00000451018.3_Nonsense_Mutation_p.Q379*|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Nonsense_Mutation_p.Q379*|MCTP2_ENST00000557742.1_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	379	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GATGTTTGTCCAGTTAAAACT	0.338000													14	32					0	0	0.004007	0	0
WFDC2	10406	broad.mit.edu	37	20	44108311	44108311	+	Silent	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:44108311A>C	ENST00000217425.5	+	3	279	c.253A>C	c.(253-255)Agg>Cgg	p.R85R	WFDC2_ENST00000339946.3_Intron|WFDC2_ENST00000342873.3_5'UTR|WFDC2_ENST00000372676.3_Intron|WFDC2_ENST00000488143.1_3'UTR			Q14508	WFDC2_HUMAN	WAP four-disulfide core domain 2	0	WAP 2.				proteolysis|spermatogenesis	extracellular space	serine-type endopeptidase inhibitor activity			lung(1)	1		Myeloproliferative disorder(115;0.0122)				aaagacacggaggctctggga	0.483000													25	44					0	0	0.007291	0	0
OR13F1	138805	broad.mit.edu	37	9	107267146	107267146	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:107267146G>A	ENST00000334726.2	+	1	692	c.603G>A	c.(601-603)gtG>gtA	p.V201V		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCATGCTGGTGATCAGTGTAC	0.433000													37	113					0	0	0.007835	0	0
PTPRD	5789	broad.mit.edu	37	9	8500885	8500885	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:8500885G>A	ENST00000381196.4	-	21	2540	c.1997C>T	c.(1996-1998)cCt>cTt	p.P666L	PTPRD_ENST00000358503.5_Missense_Mutation_p.P653L|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.P666L|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.P653L|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.P666L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	666	Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGTGTCCGAAGGAATTCCCAA	0.483000										TSP Lung(15;0.13)			23	109					0	0	0.003330	0	0
COL21A1	81578	broad.mit.edu	37	6	56044403	56044403	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:56044403C>T	ENST00000244728.5	-	3	1010	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	COL21A1_ENST00000370819.1_Missense_Mutation_p.E205K|COL21A1_ENST00000535941.1_Missense_Mutation_p.E205K	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	205	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTCATCACTTCCCTTATTTTG	0.323000													7	31					0	0	0.004482	0	0
GPR171	29909	broad.mit.edu	37	3	150917163	150917163	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:150917163C>T	ENST00000309180.5	-	3	241	c.11G>A	c.(10-12)aGt>aAt	p.S4N	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	4						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)			GAAGAACGAACTGTTTGTCAT	0.338000													14	32					0	0	0.003163	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475301	140475301	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140475301G>A	ENST00000194155.4	+	1	1075	c.927G>A	c.(925-927)ctG>ctA	p.L309L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		309	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACAGAAACTGGATTTCGAAT	0.408000													12	33					0	0	0.001855	0	0
PCLO	27445	broad.mit.edu	37	7	82544610	82544610	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82544610G>A	ENST00000423517.2	-	7	13029	c.12692C>T	c.(12691-12693)tCc>tTc	p.S4231F	PCLO_ENST00000437081.1_Missense_Mutation_p.S951F|PCLO_ENST00000333891.8_Missense_Mutation_p.S4231F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4162	Ser-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S4231F(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCCCTGGAGGAAATGCCACC	0.388000													10	27					0	0	0.013537	0	0
KMT2C	58508	broad.mit.edu	37	7	151874081	151874081	+	Silent	SNP	G	G	A	rs141305805		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:151874081G>A	ENST00000355193.2	-	38	8675	c.8457C>T	c.(8455-8457)acC>acT	p.T2819T	KMT2C_ENST00000262189.6_Silent_p.T2819T					lysine (K)-specific methyltransferase 2C																		TTACCTCATTGGTAACAGTGG	0.333000													23	54					0	0	0.003954	0	0
CACNG2	10369	broad.mit.edu	37	22	36960533	36960533	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:36960533C>T	ENST00000300105.6	-	4	1818	c.837G>A	c.(835-837)aaG>aaA	p.K279K		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	279					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGGTGGCGGCCTTCAGGGGGT	0.607000													39	55					0	0	0.009718	0	0
SPTAN1	6709	broad.mit.edu	37	9	131390214	131390214	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:131390214C>T	ENST00000372739.3	+	51	6810	c.6700C>T	c.(6700-6702)Ctc>Ttc	p.L2234F	SPTAN1_ENST00000358161.5_Intron|SPTAN1_ENST00000372731.4_Missense_Mutation_p.L2229F	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2229					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GACATACCTCCTCGATGGGTT	0.567000													68	274					0	0	0.014410	0	0
LRIT2	340745	broad.mit.edu	37	10	85984737	85984737	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:85984737C>T	ENST00000372113.4	-	2	249	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	LRIT2_ENST00000538192.1_Missense_Mutation_p.E82K	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	82						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CAGAGGTATTCCAAGGTGCTC	0.473000													22	50					0	0	0.010504	0	0
SPINK5	11005	broad.mit.edu	37	5	147477514	147477514	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:147477514G>A	ENST00000359874.3	+	11	1040	c.967G>A	c.(967-969)Ggg>Agg	p.G323R	SPINK5_ENST00000476608.1_3'UTR|SPINK5_ENST00000398454.1_Missense_Mutation_p.G323R|SPINK5_ENST00000256084.7_Missense_Mutation_p.G323R	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	323	Kazal-like 5.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTCCAGATGGGAAAATGCA	0.368000													8	17					0	0	0.006214	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37547012	37547012	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:37547012G>A	ENST00000299824.1	+	11	1596	c.1407G>A	c.(1405-1407)tgG>tgA	p.W469*	PPP1R16B_ENST00000373331.2_Nonsense_Mutation_p.W427*	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	469					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CCCCGCCCTGGAGCAGCTACA	0.637000													27	52					0	0	0.003954	0	0
SYNGR2	9144	broad.mit.edu	37	17	76166954	76166954	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:76166954C>G	ENST00000225777.3	+	2	215	c.156C>G	c.(154-156)caC>caG	p.H52Q	SYNGR2_ENST00000590201.1_5'UTR|SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000589711.1_Intron|SYNGR2_ENST00000585591.1_Missense_Mutation_p.H52Q|SYNGR2_ENST00000588282.1_Missense_Mutation_p.H52Q			O43760	SNG2_HUMAN	synaptogyrin 2	52	MARVEL.					integral to plasma membrane				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			GCAATGCCCACGAGTCTAAGC	0.617000													88	55					0	0	0.014410	0	0
CLSTN2	64084	broad.mit.edu	37	3	140122557	140122557	+	Missense_Mutation	SNP	C	C	T	rs150165907		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:140122557C>T	ENST00000458420.3	+	3	509	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	107	Cadherin 1.				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						GGGCCGGCTCCGTGCCAAGAG	0.562000										HNSCC(16;0.037)			42	86					0	0	0.008740	0	0
VWA7	80737	broad.mit.edu	37	6	31734953	31734953	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:31734953G>A	ENST00000375686.3	-	13	2101	c.1864C>T	c.(1864-1866)Ctg>Ttg	p.L622L	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Silent_p.L622L|VWA7_ENST00000447450.1_Silent_p.L622L	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	622						extracellular region											GGCTGAGTCAGGGGGTAGAGG	0.478000													70	164					0	0	0.014410	0	0
FLG	2312	broad.mit.edu	37	1	152282675	152282675	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152282675C>T	ENST00000368799.1	-	3	4722	c.4687G>A	c.(4687-4689)Gaa>Aaa	p.E1563K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1563	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGAAGGTTCATGGTGACGT	0.587000									Ichthyosis				80	144					0	0	0.014410	0	0
ZNF804A	91752	broad.mit.edu	37	2	185798363	185798363	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:185798363C>T	ENST00000302277.6	+	3	883	c.289C>T	c.(289-291)Cga>Tga	p.R97*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	97						intracellular	zinc ion binding	p.R97*(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GGAATTTGCTCGAAATGTAGC	0.368000													5	16					0	0	0.000602	0	0
PREP	5550	broad.mit.edu	37	6	105726130	105726130	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:105726130C>T	ENST00000369110.3	-	15	2214	c.2022G>A	c.(2020-2022)gtG>gtA	p.V674V		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	674					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	CCTTGGTGTCCACGTGGATAA	0.597000													17	36					0	0	0.004007	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480638	140480638	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140480638A>C	ENST00000231130.2	+	1	405	c.405A>C	c.(403-405)gaA>gaC	p.E135D	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		135					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATTCTTTGAAAATGAAATGC	0.398000													22	34					0	0	0.012319	0	0
MIR873	100126316	broad.mit.edu	37	9	28888890	28888890	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:28888890C>T	ENST00000401120.1	-	0	63					NR_030618.1																						TGGGTGTTCCCGGGAACTCAT	0.428000													5	24					0	0	0.000602	0	0
OR8D2	283160	broad.mit.edu	37	11	124189845	124189845	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:124189845C>T	ENST00000357438.2	-	1	339	c.249G>A	c.(247-249)gtG>gtA	p.V83V		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		GAACAAAGTTCACCAGCATCT	0.388000													4	24					0	0	0.009096	0	0
RP1	6101	broad.mit.edu	37	8	55539665	55539665	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:55539665G>A	ENST00000220676.1	+	4	3371	c.3223G>A	c.(3223-3225)Gaa>Aaa	p.E1075K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1075					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)			AGATCCTATAGAAGAGGAAAC	0.403000													16	32					0	0	0.003163	0	0
TEX15	56154	broad.mit.edu	37	8	30701332	30701332	+	Silent	SNP	T	T	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:30701332T>G	ENST00000256246.2	-	1	5276	c.5202A>C	c.(5200-5202)ccA>ccC	p.P1734P		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1734										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GAAATCCACGTGGTTTTCCAA	0.363000													9	39					0	0	0.006214	0	0
POM121L12	285877	broad.mit.edu	37	7	53103598	53103598	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:53103598C>T	ENST00000408890.4	+	1	250	c.234C>T	c.(232-234)atC>atT	p.I78I		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	78										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCACCTCATCGAGGTGCGGC	0.716000													15	30					0	0	0.006122	0	0
PLCZ1	89869	broad.mit.edu	37	12	18836234	18836234	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:18836234G>A	ENST00000266505.7	-	15	2029	c.1766C>T	c.(1765-1767)tCc>tTc	p.S589F	PLCZ1_ENST00000541695.1_3'UTR|PLCZ1_ENST00000539875.1_Missense_Mutation_p.S396F|PLCZ1_ENST00000538330.1_Missense_Mutation_p.S371F|PLCZ1_ENST00000447925.2_Missense_Mutation_p.S587F|PLCZ1_ENST00000534932.1_Missense_Mutation_p.S70F|PLCZ1_ENST00000435379.1_Missense_Mutation_p.S394F			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	589					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					ACCCATTCTGGAAAACAGAGG	0.388000													47	20					0	0	0.014410	0	0
PCLO	27445	broad.mit.edu	37	7	82584822	82584822	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82584822G>A	ENST00000423517.2	-	5	5784	c.5447C>T	c.(5446-5448)gCt>gTt	p.A1816V	PCLO_ENST00000333891.8_Missense_Mutation_p.A1816V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1747					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTTCTCTGAGCTCGAAGTTC	0.408000													36	109					0	0	0.004289	0	0
PTGER2	5732	broad.mit.edu	37	14	52781482	52781482	+	Silent	SNP	C	C	T	rs143268571		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:52781482C>T	ENST00000245457.5	+	1	370	c.216C>T	c.(214-216)acC>acT	p.T72T	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	72						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	TGCTGGTGACCGAGCTGGTGT	0.692000													21	31					0	0	0.014323	0	0
COBL	23242	broad.mit.edu	37	7	51094344	51094344	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:51094344C>T	ENST00000395542.2	-	13	3833	c.3649G>A	c.(3649-3651)Gag>Aag	p.E1217K	COBL_ENST00000265136.7_Missense_Mutation_p.E1135K			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1135										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGCCTGCCCTCCCCGGTGTGT	0.547000													47	77					0	0	0.014410	0	0
RBP3	5949	broad.mit.edu	37	10	48390152	48390152	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:48390152G>A	ENST00000224600.4	-	1	839	c.726C>T	c.(724-726)atC>atT	p.I242I		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	242	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGATGTGCGCGATGTCCTCGG	0.647000													7	20					0	0	0.003080	0	0
NOS3	4846	broad.mit.edu	37	7	150703536	150703536	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:150703536G>A	ENST00000297494.3	+	15	2131	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K	NOS3_ENST00000461406.1_Missense_Mutation_p.E386K	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	592	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TGCCCTGATGGAGATGTCCGG	0.522000													60	101					0	0	0.014410	0	0
CUZD1	50624	broad.mit.edu	37	10	124600823	124600823	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:124600823C>T	ENST00000368904.1	-	4	1053	c.104G>A	c.(103-105)aGt>aAt	p.S35N	CUZD1_ENST00000392790.1_Missense_Mutation_p.S35N|CUZD1_ENST00000545804.1_Missense_Mutation_p.S35N			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	35	CUB 1.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		ACCCCCTAGACTGACTGTGCA	0.493000													4	37					0	0	0.000602	0	0
GP2	2813	broad.mit.edu	37	16	20328586	20328586	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:20328586G>A	ENST00000302555.5	-	8	1514	c.1365C>T	c.(1363-1365)ttC>ttT	p.F455F	GP2_ENST00000341642.5_Silent_p.F308F|GP2_ENST00000381360.5_Silent_p.F311F|GP2_ENST00000381362.4_Silent_p.F458F			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	458	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CACAATGCAGGAAAACTAGGT	0.483000													8	28					0	0	0.004482	0	0
DNAH9	1770	broad.mit.edu	37	17	11583117	11583117	+	Silent	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:11583117T>C	ENST00000262442.3	+	18	3465	c.3397T>C	c.(3397-3399)Tta>Cta	p.L1133L	DNAH9_ENST00000454412.2_Silent_p.L1133L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1133	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGAGAGCGGCTTACTCAAGAA	0.433000													36	46					0	0	0.008740	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820805	35820805	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:35820805G>A	ENST00000399989.1	+	2	771	c.492G>A	c.(490-492)atG>atA	p.M164I	MAGEB16_ENST00000399992.1_Missense_Mutation_p.M196I|MAGEB16_ENST00000399987.1_Missense_Mutation_p.M164I|MAGEB16_ENST00000399988.1_Missense_Mutation_p.M164I|MAGEB16_ENST00000399985.1_Missense_Mutation_p.M164I	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	164	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ACCTAGAGATGATATTTGGCC	0.468000													23	40					0	0	0.003330	0	0
MAP3K9	4293	broad.mit.edu	37	14	71206780	71206780	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:71206780G>A	ENST00000554752.2	-	7	1668	c.1669C>T	c.(1669-1671)Cct>Tct	p.P557S	MAP3K9_ENST00000381250.4_Missense_Mutation_p.P557S|MAP3K9_ENST00000555993.2_Missense_Mutation_p.P557S|MAP3K9_ENST00000554146.1_Missense_Mutation_p.P294S|MAP3K9_ENST00000553414.1_Missense_Mutation_p.P251S			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	557					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CGAAGGCGAGGAATGATGGTG	0.567000													24	32					0	0	0.002780	0	0
MROH2B	133558	broad.mit.edu	37	5	41058294	41058294	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:41058294G>A	ENST00000399564.4	-	7	1077	c.627C>T	c.(625-627)atC>atT	p.I209I	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GGGCCTTAACGATGCTCAAAG	0.512000													7	12					0	0	0.003080	0	0
RGS9BP	388531	broad.mit.edu	37	19	33167782	33167782	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:33167782G>A	ENST00000334176.3	+	1	1470	c.613G>A	c.(613-615)Ggt>Agt	p.G205S		NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	205					negative regulation of signal transduction	integral to membrane				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					GCGCGGGGGGGGTTGCGACCC	0.741000													5	23					0	0	0.001168	0	0
CRB1	23418	broad.mit.edu	37	1	197390629	197390629	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:197390629C>T	ENST00000367400.3	+	6	1806	c.1671C>T	c.(1669-1671)ttC>ttT	p.F557F	CRB1_ENST00000535699.1_Silent_p.F488F|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Silent_p.F557F|CRB1_ENST00000543483.1_Silent_p.F256F|CRB1_ENST00000544212.1_Silent_p.F38F|CRB1_ENST00000367399.2_Silent_p.F445F	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	557	Laminin G-like 1.				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						TGCTTCTGTTCATTTCCCACA	0.448000													38	83					0	0	0.011902	0	0
PTPRS	5802	broad.mit.edu	37	19	5220313	5220313	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:5220313G>A	ENST00000372412.4	-	21	3743	c.3510C>T	c.(3508-3510)ttC>ttT	p.F1170F	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Silent_p.F1165F|PTPRS_ENST00000592099.1_Silent_p.F738F|PTPRS_ENST00000588012.1_Silent_p.F1147F|PTPRS_ENST00000587303.1_Silent_p.F1169F|PTPRS_ENST00000353284.2_Silent_p.F738F|PTPRS_ENST00000348075.2_Silent_p.F1147F|PTPRS_ENST00000357368.4_Silent_p.F1169F			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1169					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCGGGGTCAGGAATTGGCCTC	0.582000													21	26					0	0	0.004656	0	0
RYR2	6262	broad.mit.edu	37	1	237660052	237660052	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:237660052G>A	ENST00000366574.2	+	20	2520	c.2203_splice	c.e20+1	p.G735_splice	RYR2_ENST00000542537.1_Splice_Site_p.G719_splice|RYR2_ENST00000360064.6_Splice_Site_p.G733_splice	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	735	B30.2/SPRY 1.				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)			TCTCTGGTCAGGTACGTACTA	0.468000													29	150					0	0	0.009535	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6908965	6908965	+	Silent	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:6908965T>C	ENST00000419673.2	+	16	1777	c.1560T>C	c.(1558-1560)ggT>ggC	p.G520G	ARHGAP28_ENST00000531294.1_Silent_p.G515G|ARHGAP28_ENST00000383472.4_Silent_p.G679G|ARHGAP28_ENST00000314319.3_Silent_p.G520G	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	502					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TCAGTCATGGTTCATCAGAAT	0.284000													9	38					0	0	0.006214	0	0
PCDHA9	9752	broad.mit.edu	37	5	140228407	140228407	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140228407C>T	ENST00000378122.3	+	1	1051	c.327C>T	c.(325-327)atC>atT	p.I109I	PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.I109I|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGGTGATCGTAGACAGGC	0.542000													37	55					0	0	0.006999	0	0
ZCCHC18	644353	broad.mit.edu	37	X	103359773	103359773	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:103359773G>C	ENST00000537356.2	+	1	971	c.971G>C	c.(970-972)aGt>aCt	p.S324T	SLC25A53_ENST00000357421.4_Intron|ZCCHC18_ENST00000422784.1_Intron	NM_001143978.1	NP_001137450.1	P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	324							nucleic acid binding|zinc ion binding										CTTTCTACCAGTGGTGGTTCT	0.517000													2	0					0	0	0.004672	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325895	79325895	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:79325895G>A	ENST00000428286.1	-	8	1418	c.218C>T	c.(217-219)aCc>aTc	p.T73I	PRUNE2_ENST00000376718.3_Missense_Mutation_p.T432I			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	432					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GCTCCTAATGGTAGCCAGTCC	0.547000													4	24					0	0	0.000602	0	0
NPHP4	261734	broad.mit.edu	37	1	5923956	5923956	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:5923956G>A	ENST00000378156.4	-	29	4399	c.4134C>T	c.(4132-4134)tcC>tcT	p.S1378S	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1378					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		ACACCTGGAAGGAGTCCTCTC	0.602000													12	41					0	0	0.010729	0	0
VRTN	55237	broad.mit.edu	37	14	74824241	74824241	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:74824241C>T	ENST00000256362.4	+	2	996	c.755C>T	c.(754-756)cCt>cTt	p.P252L		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	252					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GAAGGTGCCCCTGGCGTGGCC	0.652000													22	29					0	0	0.003330	0	0
LVRN	206338	broad.mit.edu	37	5	115319033	115319033	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:115319033C>T	ENST00000357872.4	+	2	869	c.745C>T	c.(745-747)Cct>Tct	p.P249S	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		249					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										GTATGTTTTCCCTTGTTTTGA	0.398000													3	17					0	0	0.004672	0	0
GLIS3	169792	broad.mit.edu	37	9	4118600	4118600	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:4118600G>A	ENST00000324333.10	-	3	606	c.413C>T	c.(412-414)tCc>tTc	p.S138F	GLIS3_ENST00000381971.3_Missense_Mutation_p.S293F	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	138	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GGCCGAGTGGGACCTGGTGGA	0.552000													11	91					0	0	0.010729	0	0
ACER2	340485	broad.mit.edu	37	9	19423880	19423880	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:19423880C>T	ENST00000340967.2	+	2	155	c.129C>T	c.(127-129)ttC>ttT	p.F43F	ACER2_ENST00000380376.1_5'UTR	NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	43					ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						TCTTATTTTTCATTTTACCGC	0.373000													28	36					0	0	0.006320	0	0
GAS2L2	246176	broad.mit.edu	37	17	34074268	34074268	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:34074268G>A	ENST00000254466.6	-	5	879	c.852C>T	c.(850-852)ttC>ttT	p.F284F	GAS2L2_ENST00000587565.1_Silent_p.F268F	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	284					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGGCTTCAGGAAGCTGCCTG	0.597000													106	73					0	0	0.014410	0	0
DYSF	8291	broad.mit.edu	37	2	71741043	71741043	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:71741043G>A	ENST00000258104.3	+	6	932	c.655G>A	c.(655-657)Gat>Aat	p.D219N	DYSF_ENST00000410020.3_Missense_Mutation_p.D251N|DYSF_ENST00000413539.2_Missense_Mutation_p.D250N|DYSF_ENST00000409651.1_Missense_Mutation_p.D251N|DYSF_ENST00000409366.1_Missense_Mutation_p.D220N|DYSF_ENST00000429174.2_Missense_Mutation_p.D219N|DYSF_ENST00000409582.3_Missense_Mutation_p.D250N|DYSF_ENST00000394120.2_Missense_Mutation_p.D220N|DYSF_ENST00000410041.1_Missense_Mutation_p.D251N|DYSF_ENST00000409744.1_Missense_Mutation_p.D220N|DYSF_ENST00000409762.1_Missense_Mutation_p.D250N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	219	C2 2.					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						CAAACCGCAGGATTTCCAGGT	0.572000													7	16					0	0	0.004482	0	0
OR4X2	119764	broad.mit.edu	37	11	48267363	48267363	+	Silent	SNP	C	C	T	rs144663280	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:48267363C>T	ENST00000302329.3	+	1	756	c.708C>T	c.(706-708)ttC>ttT	p.F236F		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F236F(2)		breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GGTCCCATTTCGCTGTGGTTA	0.522000													14	23					0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179477637	179477637	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179477637C>T	ENST00000589042.1	-	265	50035	c.49811G>A	c.(49810-49812)gGg>gAg	p.G16604E	TTN_ENST00000460472.2_Missense_Mutation_p.G7539E|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G7664E|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G14036E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G7731E|TTN_ENST00000591111.1_Missense_Mutation_p.G14963E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14963	Fibronectin type-III 20.						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)			GGTGGGAACCCCTTCCGCCAC	0.488000													15	25					0	0	0.002450	0	0
GKAP1	80318	broad.mit.edu	37	9	86403586	86403586	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:86403586G>A	ENST00000376371.2	-	5	768	c.368C>T	c.(367-369)tCt>tTt	p.S123F	GKAP1_ENST00000376365.3_Missense_Mutation_p.S123F	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	123					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						AAACATTTCAGATGTCAGCTA	0.289000													33	60					0	0	0.006999	0	0
YLPM1	56252	broad.mit.edu	37	14	75264365	75264365	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:75264365C>T	ENST00000325680.7	+	5	2489	c.2365C>T	c.(2365-2367)Cgc>Tgc	p.R789C	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.R594C	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	594					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TGAAGGAAATCGCCCCGATGG	0.488000													5	6					0	0	0.000602	0	0
MUC16	94025	broad.mit.edu	37	19	9057093	9057093	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9057093G>A	ENST00000397910.4	-	3	30556	c.30353C>T	c.(30352-30354)tCc>tTc	p.S10118F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10120	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						TGAAACAGAGGAATATAGTTC	0.473000													17	31					0	0	0.004990	0	0
GCM2	9247	broad.mit.edu	37	6	10876690	10876690	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:10876690C>T	ENST00000379491.4	-	3	591	c.444G>A	c.(442-444)gcG>gcA	p.A148A	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	148					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GAAAAAAGATCGCGTTGCCAT	0.498000													13	38					0	0	0.001855	0	0
LCE2C	353140	broad.mit.edu	37	1	152648565	152648565	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152648565C>T	ENST00000368783.1	+	2	129	c.74C>T	c.(73-75)cCa>cTa	p.P25L	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	25	Cys-rich.				keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ccaaaatgtccacctaagtgt	0.572000													26	64					0	0	0.003954	0	0
GRM1	2911	broad.mit.edu	37	6	146351223	146351223	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:146351223C>T	ENST00000392299.2	+	2	1040	c.570C>T	c.(568-570)atC>atT	p.I190I	GRM1_ENST00000355289.4_Silent_p.I190I|GRM1_ENST00000492807.2_Silent_p.I190I|GRM1_ENST00000361719.2_Silent_p.I190I|GRM1_ENST00000507907.1_Silent_p.I190I|GRM1_ENST00000282753.1_Silent_p.I190I			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	190					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)	CCACAAGCATCGACCTGAGTG	0.507000													26	54					0	0	0.008361	0	0
COL7A1	1294	broad.mit.edu	37	3	48619180	48619180	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:48619180G>A	ENST00000328333.8	-	48	4788	c.4681C>T	c.(4681-4683)Ccc>Tcc	p.P1561S	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1561S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1561	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCCCAGCGGGCCCCACATCT	0.577000													19	112					0	0	0.007413	0	0
CSMD1	64478	broad.mit.edu	37	8	2820869	2820869	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:2820869C>T	ENST00000520002.1	-	61	9887	c.9332G>A	c.(9331-9333)gGa>gAa	p.G3111E	CSMD1_ENST00000602557.1_Missense_Mutation_p.G3111E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2933E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2934E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2934E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G3110E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3111	Sushi 25.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GAAATCACTTCCCTCCACTGT	0.582000													52	129					0	0	0.014410	0	0
NCEH1	57552	broad.mit.edu	37	3	172351691	172351691	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:172351691G>A	ENST00000475381.1	-	5	1034	c.801C>T	c.(799-801)atC>atT	p.I267I	NCEH1_ENST00000273512.3_Silent_p.I299I|NCEH1_ENST00000543711.1_Silent_p.I134I|NCEH1_ENST00000538775.1_Silent_p.I307I			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	267					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						GATTGTTAACGATCATTGCCT	0.478000													11	39					0	0	0.001855	0	0
OR2W1	26692	broad.mit.edu	37	6	29012269	29012269	+	Silent	SNP	C	C	T	rs144276666		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:29012269C>T	ENST00000377175.1	-	1	748	c.684G>A	c.(682-684)acG>acA	p.T228T		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T228T(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CTTTTGACTTCGTTCTCAGCA	0.393000													34	51					0	0	0.003271	0	0
FARSB	10056	broad.mit.edu	37	2	223499232	223499232	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:223499232G>A	ENST00000281828.6	-	6	747	c.484C>T	c.(484-486)Cat>Tat	p.H162Y	FARSB_ENST00000536361.1_Missense_Mutation_p.H63Y	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	162					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)	TCCAAATCATGGGTACCAATG	0.433000													7	30					0	0	0.003080	0	0
TMEM59	9528	broad.mit.edu	37	1	54509162	54509162	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:54509162G>A	ENST00000371344.1	-	1	1453	c.34C>T	c.(34-36)Cct>Tct	p.P12S	TMEM59_ENST00000371348.1_Missense_Mutation_p.P12S|TMEM59_ENST00000234831.5_Missense_Mutation_p.P143S|TMEM59_ENST00000371341.1_Missense_Mutation_p.P12S			Q9BXS4	TMM59_HUMAN	transmembrane protein 59	143						Golgi membrane|integral to membrane				kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						AGAGTTAGAGGAAAGAGTAGG	0.343000													26	53					0	0	0.009535	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85492772	85492772	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:85492772G>A	ENST00000393217.2	+	13	3270	c.3209_splice	c.e13+1	p.S1070_splice		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1070										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TCTCAAAACAGGTAAAAGCAT	0.289000													6	21					0	0	0.001168	0	0
EMR1	2015	broad.mit.edu	37	19	6897289	6897289	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:6897289G>A	ENST00000312053.4	+	4	405	c.368G>A	c.(367-369)gGa>gAa	p.G123E	EMR1_ENST00000381404.4_Intron|EMR1_ENST00000450315.3_Missense_Mutation_p.G123E|EMR1_ENST00000250572.8_Missense_Mutation_p.G123E|EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000381407.5_Intron	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	123	EGF-like 2; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.G123V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGGGTCCCAGGAAAGCCGGGC	0.498000													16	32					0	0	0.007413	0	0
HHIPL2	79802	broad.mit.edu	37	1	222715384	222715384	+	Missense_Mutation	SNP	G	G	A	rs146335870		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:222715384G>A	ENST00000343410.6	-	3	1146	c.1088C>T	c.(1087-1089)cCc>cTc	p.P363L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	363					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CAGGCCAAAGGGATCTCCAGC	0.527000													140	271					0	0	0.014410	0	0
OR4K13	390433	broad.mit.edu	37	14	20502813	20502813	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:20502813G>A	ENST00000315693.2	-	1	106	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CAATCCCCACGAAGACCACAG	0.413000													11	22					0	0	0.010729	0	0
SYNE1	23345	broad.mit.edu	37	6	152738117	152738117	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:152738117C>T	ENST00000367255.5	-	41	6056	c.5455G>A	c.(5455-5457)Gaa>Aaa	p.E1819K	SYNE1_ENST00000341594.5_Missense_Mutation_p.E1856K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1826K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1826K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1819K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1819					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)		CTCTGCAATTCGCCCTTTTTG	0.517000										HNSCC(10;0.0054)			18	71					0	0	0.007413	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43795855	43795855	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:43795855G>A	ENST00000291532.3	-	12	2272	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S	TMPRSS3_ENST00000433957.2_Silent_p.S438S|TMPRSS3_ENST00000380399.1_Silent_p.S523S|TMPRSS3_ENST00000398405.1_Silent_p.S436S|TMPRSS3_ENST00000474596.1_5'UTR	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	439	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						AGTCCAGGAAGGAGGTGACAC	0.597000													38	36					0	0	0.004878	0	0
KCNAB1	7881	broad.mit.edu	37	3	156009848	156009848	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:156009848G>A	ENST00000302490.8	+	1	1023	c.152G>A	c.(151-153)gGg>gAg	p.G51E	KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000490337.1_Intron|KCNAB1_ENST00000471742.1_Intron|KCNAB1_ENST00000389634.5_Missense_Mutation_p.G51E	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	69						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CGCAGCCTGGGGACGTTCACG	0.577000													12	46					0	0	0.013537	0	0
MMP26	56547	broad.mit.edu	37	11	5011075	5011075	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5011075G>A	ENST00000380390.1	+	3	513	c.297G>A	c.(295-297)tgG>tgA	p.W99*	MMP26_ENST00000300762.1_Nonsense_Mutation_p.W99*			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	99					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		GATGCAAGTGGAATAAGCACA	0.527000													10	25					0	0	0.006214	0	0
IGHG1	3500	broad.mit.edu	37	14	106208404	106208404	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:106208404C>T	ENST00000390548.2	-	0	495																											TTATGCACCTCCACGCCGTCC	0.602000													35	112					0	0	0.005524	0	0
NTRK3	4916	broad.mit.edu	37	15	88423518	88423518	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:88423518G>A	ENST00000394480.1	-	18	2596	c.2275C>T	c.(2275-2277)Caa>Taa	p.Q759*	NTRK3_ENST00000557856.1_Nonsense_Mutation_p.Q751*|NTRK3_ENST00000360948.2_Nonsense_Mutation_p.Q773*|NTRK3_ENST00000355254.2_Nonsense_Mutation_p.Q759*|NTRK3_ENST00000357724.2_Nonsense_Mutation_p.Q765*	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	773	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.Q759K(1)|p.Q773K(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTTGAGAGTTGGAACCATGGC	0.493000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			19	48					0	0	0.008871	0	0
NRXN1	9378	broad.mit.edu	37	2	51255007	51255007	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:51255007G>A	ENST00000404971.1	-	2	1744	c.405C>T	c.(403-405)gcC>gcT	p.A135A	NRXN1_ENST00000405472.3_Silent_p.A135A|NRXN1_ENST00000405581.1_Silent_p.A135A|NRXN1_ENST00000402717.3_Silent_p.A135A|NRXN1_ENST00000401669.2_Silent_p.A135A|NRXN1_ENST00000406859.3_Silent_p.A135A|NRXN1_ENST00000406316.2_Silent_p.A135A	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	135	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCACCCACTTGGCCTCCACCT	0.687000													9	21					0	0	0.010729	0	0
RARRES1	5918	broad.mit.edu	37	3	158422676	158422676	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:158422676C>T	ENST00000237696.5	-	4	856	c.576G>A	c.(574-576)tgG>tgA	p.W192*	RARRES1_ENST00000479756.1_Nonsense_Mutation_p.W192*|RARRES1_ENST00000498640.1_5'UTR	NM_206963.1	NP_996846.1	P49788	TIG1_HUMAN	retinoic acid receptor responder (tazarotene induced) 1	192					negative regulation of cell proliferation	integral to membrane				NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	AAGCCAAATCCCAGATGAGTC	0.418000													8	18					0	0	0.003080	0	0
GOPC	57120	broad.mit.edu	37	6	117900091	117900091	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:117900091G>A	ENST00000535237.1	-	2	651	c.422C>T	c.(421-423)gCt>gTt	p.A141V	GOPC_ENST00000052569.6_Missense_Mutation_p.A141V|GOPC_ENST00000368498.2_Missense_Mutation_p.A141V					golgi-associated PDZ and coiled-coil motif containing										GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		ACCAGAGTCAGCACTTTGACC	0.408000			O	ROS1	glioblastoma								10	34					0	0	0.013537	0	0
USP43	124739	broad.mit.edu	37	17	9586206	9586206	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:9586206C>T	ENST00000570827.2	+	7	1313	c.239C>T	c.(238-240)tCt>tTt	p.S80F	USP43_ENST00000285199.6_Missense_Mutation_p.S391F|USP43_ENST00000570475.1_Missense_Mutation_p.S391F|USP43_ENST00000575346.1_3'UTR			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	391					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TTCTCCCTCTCTCTCCACAGT	0.527000													31	17					0	0	0.009535	0	0
OR14J1	442191	broad.mit.edu	37	6	29275110	29275110	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:29275110C>T	ENST00000377160.2	+	1	708	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						ATTGTGCTCTCCTACATTCGC	0.468000													9	118					0	0	0.004482	0	0
EWSR1	2130	broad.mit.edu	37	22	29693828	29693828	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:29693828C>G	ENST00000397938.2	+	13	1625	c.1306C>G	c.(1306-1308)Caa>Gaa	p.Q436E	EWSR1_ENST00000406548.1_Missense_Mutation_p.Q435E|EWSR1_ENST00000332035.6_Missense_Mutation_p.Q380E|EWSR1_ENST00000331029.7_Missense_Mutation_p.Q398E|EWSR1_ENST00000332050.6_Missense_Mutation_p.Q363E|EWSR1_ENST00000414183.2_Missense_Mutation_p.Q441E	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	436	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	p.Q436*(1)	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAAAGATTTTCAAGGGAGCAA	0.512000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								8	56					0	0	0.003080	0	0
LPPR1	54886	broad.mit.edu	37	9	104032288	104032288	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:104032288G>A	ENST00000374874.3	+	3	629	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	LPPR1_ENST00000395056.2_Missense_Mutation_p.E64K	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		64						integral to membrane	catalytic activity										AGGGACAGAGGAAGAAAGCTT	0.463000													13	29					0	0	0.001855	0	0
ERMARD	55780	broad.mit.edu	37	6	170156440	170156440	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:170156440C>T	ENST00000366773.3	+	4	355	c.322C>T	c.(322-324)Cct>Tct	p.P108S	C6orf70_ENST00000366772.2_Missense_Mutation_p.P108S|C6orf70_ENST00000588451.1_5'UTR|C6orf70_ENST00000392095.4_5'UTR|C6orf70_ENST00000418781.3_Missense_Mutation_p.P108S	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	CF070_HUMAN		108						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		ATAGTTATTTCCTGAAATATT	0.333000													17	32					0	0	0.007413	0	0
KIAA1377	57562	broad.mit.edu	37	11	101815013	101815013	+	Missense_Mutation	SNP	G	G	A	rs145886481		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:101815013G>A	ENST00000263468.8	+	3	536	c.266G>A	c.(265-267)cGa>cAa	p.R89Q		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	89							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GAGGAGAAACGAAAAGAACAG	0.313000													10	12					0	0	0.006214	0	0
VWA5A	4013	broad.mit.edu	37	11	124007909	124007909	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:124007909C>T	ENST00000456829.2	+	15	2064	c.1813C>T	c.(1813-1815)Cat>Tat	p.H605Y	VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Missense_Mutation_p.H605Y	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	605										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						GCCTCTGGCTCATAGGGACGT	0.453000													15	18					0	0	0.004007	0	0
IFIH1	64135	broad.mit.edu	37	2	163134828	163134828	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:163134828T>A	ENST00000263642.2	-	9	2047	c.1652A>T	c.(1651-1653)aAa>aTa	p.K551I		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	551					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						AAGTTTCTCTTTAAATGGATC	0.279000													17	24					0	0	0.008871	0	0
CDH13	1012	broad.mit.edu	37	16	83704515	83704515	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:83704515G>A	ENST00000566620.1	+	9	1512	c.1222G>A	c.(1222-1224)Ggg>Agg	p.G408R	CDH13_ENST00000268613.10_Missense_Mutation_p.G455R|CDH13_ENST00000428848.3_Missense_Mutation_p.G369R	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	408	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CGGAAACCCCGGGCAGAGCTT	0.498000													28	95					0	0	0.010818	0	0
PTF1A	256297	broad.mit.edu	37	10	23482809	23482809	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:23482809G>A	ENST00000376504.3	+	2	1165	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	321					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CATAGAAAACGAACCACCATT	0.398000													25	99					0	0	0.007291	0	0
DNAH9	1770	broad.mit.edu	37	17	11809055	11809055	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:11809055C>T	ENST00000262442.3	+	61	11746	c.11678C>T	c.(11677-11679)tCg>tTg	p.S3893L	DNAH9_ENST00000454412.2_Missense_Mutation_p.S3893L|DNAH9_ENST00000396001.2_Missense_Mutation_p.S205L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3893	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTGAAGAATCGGGACCAGCC	0.468000													17	15					0	0	0.004990	0	0
MYO7B	4648	broad.mit.edu	37	2	128363455	128363455	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:128363455C>T	ENST00000389524.4	+	20	2429	c.2376C>T	c.(2374-2376)acC>acT	p.T792T	MYO7B_ENST00000409816.2_Silent_p.T792T|MYO7B_ENST00000428314.1_Silent_p.T792T			Q6PIF6	MYO7B_HUMAN	myosin VIIB	792	IQ 2.|IQ 3.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CAGCTGTGACCCTGCAGGCCT	0.587000													9	30					0	0	0.002450	0	0
PRKCB	5579	broad.mit.edu	37	16	24046808	24046808	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:24046808G>A	ENST00000303531.7	+	5	621	c.469G>A	c.(469-471)Gag>Aag	p.E157K	PRKCB_ENST00000321728.7_Missense_Mutation_p.E157K	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	157					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GGACCACACGGAGCGCCGCGG	0.617000													20	29					0	0	0.008871	0	0
LTBP2	4053	broad.mit.edu	37	14	75052711	75052711	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:75052711C>T	ENST00000261978.4	-	3	1062	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.E226K	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	226					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGGTCAAATTCCTCATCGGGA	0.682000													7	5					0	0	0.001984	0	0
LGI2	55203	broad.mit.edu	37	4	25030152	25030152	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:25030152G>A	ENST00000382114.4	-	2	431	c.246C>T	c.(244-246)tcC>tcT	p.S82S		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	82						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				AAGGCAGATGGGAAAACATTC	0.522000													5	5					0	0	0.001168	0	0
KCNF1	3754	broad.mit.edu	37	2	11053886	11053886	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:11053886C>T	ENST00000295082.1	+	1	1824	c.1334C>T	c.(1333-1335)tCc>tTc	p.S445F		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	445						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		ACCGGGGGCTCCCGCAGTGAC	0.667000													5	26					0	0	0.000602	0	0
TFCP2L1	29842	broad.mit.edu	37	2	122007207	122007207	+	Silent	SNP	G	G	A	rs61734658		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:122007207G>A	ENST00000263707.5	-	3	328	c.231C>T	c.(229-231)atC>atT	p.I77I		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	77					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CCAGTAGTCGGATTTCATAAG	0.458000													34	74					0	0	0.005524	0	0
KIF2B	84643	broad.mit.edu	37	17	51901025	51901025	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:51901025G>A	ENST00000268919.4	+	1	787	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	211	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCCCCCGCAAGAACATCGCAT	0.537000													15	17					0	0	0.003163	0	0
PPFIA1	8500	broad.mit.edu	37	11	70183477	70183477	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:70183477C>T	ENST00000253925.7	+	12	1650	c.1435C>T	c.(1435-1437)Ctt>Ttt	p.L479F	PPFIA1_ENST00000389547.3_Missense_Mutation_p.L479F|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	479					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TCAGAACTCTCTTTTAAGAGA	0.333000													3	6					0	0	0.009096	0	0
ABCB9	23457	broad.mit.edu	37	12	123419895	123419895	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:123419895G>A	ENST00000542678.1	-	10	4665	c.1827C>T	c.(1825-1827)ttC>ttT	p.F609F	ABCB9_ENST00000344275.7_Silent_p.F609F|ABCB9_ENST00000442833.2_Silent_p.F609F|ABCB9_ENST00000280560.8_Silent_p.F609F|ABCB9_ENST00000392439.3_Silent_p.F609F|ABCB9_ENST00000346530.5_Silent_p.F566F|ABCB9_ENST00000442028.2_Silent_p.F609F|ABCB9_ENST00000540285.1_Silent_p.F546F			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	609	ABC transporter.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CCACCATCTCGAAAGGCACAG	0.637000													12	12					0	0	0.010729	0	0
OR4M1	441670	broad.mit.edu	37	14	20248579	20248579	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:20248579C>T	ENST00000315957.4	+	1	179	c.98C>T	c.(97-99)tCc>tTc	p.S33F		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S33Y(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATATTTCTATCCTTCTATTTG	0.413000													22	246					0	0	0.012319	0	0
C3orf55	152078	broad.mit.edu	37	3	157296096	157296096	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:157296096C>T	ENST00000312275.5	+	5	623	c.331C>T	c.(331-333)Cat>Tat	p.H111Y	C3orf55_ENST00000449199.2_Intron|C3orf55_ENST00000461040.1_Intron|C3orf55_ENST00000426338.2_Intron|C3orf55_ENST00000459838.1_3'UTR	NM_001099777.3	NP_001093247.1	A1A4F0	CC055_HUMAN	chromosome 3 open reading frame 55	0										breast(1)|lung(1)	2			Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037)			GAAGGAACTTCATTTCTGCTG	0.398000													16	22					0	0	0.008871	0	0
COL19A1	1310	broad.mit.edu	37	6	70866042	70866042	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:70866042C>T	ENST00000322773.4	+	32	2205	c.2103C>T	c.(2101-2103)gcC>gcT	p.A701A	COL19A1_ENST00000393344.1_Silent_p.A323A	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	701	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ACTGCCAAGCCAGTGTCCCAG	0.468000													5	23					0	0	0.001168	0	0
OR2M7	391196	broad.mit.edu	37	1	248487463	248487463	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248487463C>T	ENST00000317965.2	-	1	436	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTTGGGTCTCATGAGATTGG	0.448000													43	161					0	0	0.014410	0	0
MYH14	79784	broad.mit.edu	37	19	50812329	50812329	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:50812329C>T	ENST00000440075.2	+	42	5902	c.5855C>T	c.(5854-5856)tCc>tTc	p.S1952F	MYH14_ENST00000596571.1_Missense_Mutation_p.S1911F|MYH14_ENST00000601313.1_Missense_Mutation_p.S1952F|MYH14_ENST00000598205.1_Missense_Mutation_p.S1919F|MYH14_ENST00000425460.1_Missense_Mutation_p.S1919F|MYH14_ENST00000376970.2_Missense_Mutation_p.S1944F|MYH14_ENST00000262269.8_Missense_Mutation_p.S1952F			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1911					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GAGGAGGCATCCCGGGCTCAG	0.622000													13	26					0	0	0.001855	0	0
BMP6	654	broad.mit.edu	37	6	7880319	7880319	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:7880319G>A	ENST00000283147.6	+	6	1536	c.1377G>A	c.(1375-1377)gcG>gcA	p.A459A		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	459					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CCAACCACGCGATTGTGCAGA	0.483000													14	62					0	0	0.003163	0	0
SCAI	286205	broad.mit.edu	37	9	127762192	127762192	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:127762192G>A	ENST00000336505.5	-	13	1280	c.1222C>T	c.(1222-1224)Cag>Tag	p.Q408*	SCAI_ENST00000373549.4_Nonsense_Mutation_p.Q431*|SCAI_ENST00000487795.1_5'UTR	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	408					negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TTGTGGGACTGATTTCGTTTG	0.328000													46	85					0	0	0.014410	0	0
HMCN1	83872	broad.mit.edu	37	1	186114634	186114634	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:186114634C>T	ENST00000271588.4	+	92	14595	c.14366C>T	c.(14365-14367)cCc>cTc	p.P4789L	HMCN1_ENST00000367492.2_Missense_Mutation_p.P4789L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4789	TSP type-1 5.				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						AACCCTCCTCCCTCCAATGGG	0.577000													10	25					0	0	0.006214	0	0
NFIX	4784	broad.mit.edu	37	19	13192533	13192533	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:13192533C>T	ENST00000358552.3	+	6	992	c.992C>T	c.(991-993)tCc>tTc	p.S331F	NFIX_ENST00000588228.1_Missense_Mutation_p.S326F|NFIX_ENST00000585575.1_Missense_Mutation_p.S365F|NFIX_ENST00000587260.1_Missense_Mutation_p.S372F|NFIX_ENST00000592199.1_Missense_Mutation_p.S373F|NFIX_ENST00000397661.2_Missense_Mutation_p.S373F|NFIX_ENST00000360105.4_Missense_Mutation_p.S335F|NFIX_ENST00000587760.1_Missense_Mutation_p.S365F			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	373					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CACTTCCCCTCCACGTCCATC	0.632000													17	18					0	0	0.006122	0	0
NUP210	23225	broad.mit.edu	37	3	13417834	13417834	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:13417834C>T	ENST00000254508.5	-	10	1332	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	417					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GGCCGTCTGTCCCCTCTTTAG	0.572000													23	44					0	0	0.012319	0	0
PCLO	27445	broad.mit.edu	37	7	82581291	82581291	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82581291G>A	ENST00000423517.2	-	5	9315	c.8978C>T	c.(8977-8979)tCc>tTc	p.S2993F	PCLO_ENST00000333891.8_Missense_Mutation_p.S2993F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2924					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTCAGACATGGAAGGCTTCAT	0.403000													56	136					0	0	0.014410	0	0
TSHR	7253	broad.mit.edu	37	14	81609650	81609650	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:81609650C>T	ENST00000541158.2	+	11	1570	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F	TSHR_ENST00000298171.2_Silent_p.F416F|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	416					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GCTACAAGTTCCTGAGAATTG	0.502000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						18	113					0	0	0.012319	0	0
AGO1	26523	broad.mit.edu	37	1	36379862	36379862	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:36379862C>A	ENST00000373204.4	+	14	2033	c.1820C>A	c.(1819-1821)cCt>cAt	p.P607H	AGO1_ENST00000373206.1_Missense_Mutation_p.P532H	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		GGGAAAAAACCTTCTATCACA	0.483000													23	42					3.83957e-06	4.17097e-06	0.002780	1	0
FAM47B	170062	broad.mit.edu	37	X	34962818	34962818	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:34962818C>T	ENST00000329357.5	+	1	1906	c.1870C>T	c.(1870-1872)Cct>Tct	p.P624S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	624								p.P624A(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGTTAAGACTCCTATTCAACG	0.398000													24	46					0	0	0.005443	0	0
ZCWPW1	55063	broad.mit.edu	37	7	99999545	99999545	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:99999545C>T	ENST00000398027.2	-	17	1838	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	ZCWPW1_ENST00000490721.1_Intron|ZCWPW1_ENST00000324725.6_Intron|ZCWPW1_ENST00000360951.4_Intron	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	531							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTTGGCCTTCTTTCCTTCCC	0.532000													19	83					0	0	0.006122	0	0
PDE1C	5137	broad.mit.edu	37	7	31887604	31887604	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:31887604T>G	ENST00000396184.3	-	10	1162	c.958A>C	c.(958-960)Aac>Cac	p.N320H	PDE1C_ENST00000396191.1_Missense_Mutation_p.N320H|PDE1C_ENST00000321453.7_Missense_Mutation_p.N320H|PDE1C_ENST00000396193.1_Missense_Mutation_p.N380H|PDE1C_ENST00000396182.2_Missense_Mutation_p.N320H	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	320	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTTGAGAGGTTAATCAAAATA	0.398000													6	54					0	0	0.001984	0	0
OBP2A	29991	broad.mit.edu	37	9	138441153	138441153	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:138441153G>A	ENST00000539850.1	+	6	516		c.e6-1		OBP2A_ENST00000340780.3_Splice_Site|OBP2A_ENST00000371776.1_Splice_Site|OBP2A_ENST00000342114.4_Splice_Site			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A						response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		GGTCTCTGCAGGAAGCTGCGT	0.617000													23	101					0	0	0.005443	0	0
JUP	3728	broad.mit.edu	37	17	39919277	39919277	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:39919277G>A	ENST00000393931.3	-	8	1573	c.1455C>T	c.(1453-1455)atC>atT	p.I485I	JUP_ENST00000310706.5_Silent_p.I485I|JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Silent_p.I485I	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	485					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCAGCTTCACGATGGCTGGGA	0.622000													17	25					0	0	0.007413	0	0
INPP5A	3632	broad.mit.edu	37	10	134540383	134540383	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:134540383C>T	ENST00000368594.3	+	9	983	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	INPP5A_ENST00000487614.1_3'UTR|INPP5A_ENST00000368593.3_Missense_Mutation_p.R236W	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	236					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TTTCAACTTCCGGCTGGATTC	0.522000													14	41					0	0	0.004990	0	0
CSMD3	114788	broad.mit.edu	37	8	113516034	113516034	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:113516034G>A	ENST00000297405.5	-	30	5312	c.5068C>T	c.(5068-5070)Cat>Tat	p.H1690Y	CSMD3_ENST00000455883.2_Missense_Mutation_p.H1586Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.H1690Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.H1650Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1690	CUB 9.					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						TATTCTAGATGAAATCCAGTG	0.323000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	48					0	0	0.010729	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420143	56420143	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:56420143C>T	ENST00000407595.2	+	2	1310	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	270	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AACCCCAGATCGCCCCAAAGC	0.657000													8	30					0	0	0.003080	0	0
DCC	1630	broad.mit.edu	37	18	50592432	50592432	+	Missense_Mutation	SNP	G	G	A	rs140711456	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:50592432G>A	ENST00000442544.2	+	7	1773	c.1157G>A	c.(1156-1158)cGg>cAg	p.R386Q	DCC_ENST00000412726.1_Missense_Mutation_p.R234Q|DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Missense_Mutation_p.R41Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	386	Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.R386Q(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGCAACTTACGGATACTTGGG	0.418000													27	70					0	0	0.006320	0	0
ACSS1	84532	broad.mit.edu	37	20	24994251	24994251	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:24994251G>A	ENST00000537502.1	-	8	2782	c.1251C>T	c.(1249-1251)tcC>tcT	p.S417S	ACSS1_ENST00000542618.1_Silent_p.S379S|ACSS1_ENST00000323482.4_Silent_p.S500S|ACSS1_ENST00000432802.2_Silent_p.S500S			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	500					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCCAGGCCTGGGAGATGCACA	0.642000													4	21					0	0	0.000602	0	0
ZNF287	57336	broad.mit.edu	37	17	16466462	16466462	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:16466462G>A	ENST00000395824.1	-	5	1330	c.713C>T	c.(712-714)cCa>cTa	p.P238L	ZNF287_ENST00000395825.3_Missense_Mutation_p.P238L			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	231					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TTTCTCACCTGGACTAGGGCC	0.378000													24	21					0	0	0.004656	0	0
CD101	9398	broad.mit.edu	37	1	117554458	117554458	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:117554458G>A	ENST00000256652.4	+	3	769	c.711G>A	c.(709-711)gaG>gaA	p.E237E	CD101_ENST00000369470.1_Silent_p.E237E	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	237	Ig-like C2-type 2.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGTCCATAGAGAGGCTCCAGT	0.498000													12	23					0	0	0.001855	0	0
ABCB1	5243	broad.mit.edu	37	7	87179839	87179839	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:87179839C>T	ENST00000265724.3	-	12	1586	c.1169G>A	c.(1168-1170)gGa>gAa	p.G390E	ABCB1_ENST00000543898.1_Missense_Mutation_p.G326E	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	390					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTCCAAATTTCCCTTAATATT	0.313000													24	47					0	0	0.003954	0	0
OR51B4	79339	broad.mit.edu	37	11	5322889	5322889	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5322889G>A	ENST00000380224.1	-	1	337	c.288C>T	c.(286-288)ttC>ttT	p.F96F	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGATTGGGTGAAACAGGCAG	0.507000													11	37					0	0	0.010729	0	0
ZZEF1	23140	broad.mit.edu	37	17	3974195	3974195	+	Silent	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:3974195G>T	ENST00000381638.2	-	26	3982	c.3858C>A	c.(3856-3858)ccC>ccA	p.P1286P		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1286							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AATGGCGGCAGGGGTCGTCAG	0.383000													7	27					0.00198382	0.00214421	0.001984	1	0
DHRS1	115817	broad.mit.edu	37	14	24765783	24765783	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:24765783G>T	ENST00000288111.7	-	4	582	c.306C>A	c.(304-306)aaC>aaA	p.N102K	DHRS1_ENST00000396813.1_Missense_Mutation_p.N102K	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	102						endoplasmic reticulum	binding|oxidoreductase activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		TATTCCTGGTGTTCAGGATCG	0.552000											OREG0022622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	101					9.16793e-09	1.0008e-08	0.004990	1	0
COMTD1	118881	broad.mit.edu	37	10	76995454	76995454	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:76995454G>A	ENST00000372538.3	-	2	224	c.142C>T	c.(142-144)Ccc>Tcc	p.P48S	COMTD1_ENST00000460899.1_5'UTR	NM_144589.2	NP_653190.2	Q86VU5	CMTD1_HUMAN	catechol-O-methyltransferase domain containing 1	48						integral to membrane	O-methyltransferase activity			central_nervous_system(1)|large_intestine(1)|lung(1)	3	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)					TCCTCGGGGGGAAGCAGGCAC	0.706000													3	7					0	0	0.000602	0	0
GLB1L2	89944	broad.mit.edu	37	11	134226237	134226237	+	Missense_Mutation	SNP	G	G	A	rs146193618		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:134226237G>A	ENST00000535456.2	+	6	789	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	GLB1L2_ENST00000389881.3_Missense_Mutation_p.E201K|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.E201K	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	201					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GGTGGAGAATGAATATGGTTC	0.478000													43	72					0	0	0.014410	0	0
SLC37A2	219855	broad.mit.edu	37	11	124951352	124951352	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:124951352C>T	ENST00000403796.2	+	8	1031	c.730C>T	c.(730-732)Cac>Tac	p.H244Y	SLC37A2_ENST00000308074.4_Missense_Mutation_p.H244Y|SLC37A2_ENST00000407458.1_Missense_Mutation_p.H244Y|SLC37A2_ENST00000298280.5_Missense_Mutation_p.H244Y	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	244					carbohydrate transport|transmembrane transport	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		TCCTCAGCACCACGTGAGTGT	0.602000													20	16					0	0	0.002780	0	0
LAMA5	3911	broad.mit.edu	37	20	60887028	60887028	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:60887028C>T	ENST00000252999.3	-	70	9649	c.9583G>A	c.(9583-9585)Ggc>Agc	p.G3195S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3195	Laminin G-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCGGCGAAGCCCGCTTGAGTT	0.647000													16	51					0	0	0.004007	0	0
TNS1	7145	broad.mit.edu	37	2	218669209	218669209	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:218669209G>A	ENST00000171887.4	-	33	5633	c.5181C>T	c.(5179-5181)gtC>gtT	p.V1727V	TNS1_ENST00000419504.1_Silent_p.V1713V|TNS1_ENST00000430930.1_Silent_p.V1706V	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1727						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CATTCAGCATGACCTTGGAGA	0.627000													18	65					0	0	0.007413	0	0
FCRL5	83416	broad.mit.edu	37	1	157516818	157516818	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:157516818G>A	ENST00000361835.3	-	3	379	c.222C>T	c.(220-222)atC>atT	p.I74I	FCRL5_ENST00000368190.3_Silent_p.I74I|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368189.3_Silent_p.I74I|FCRL5_ENST00000356953.4_Silent_p.I74I|FCRL5_ENST00000368188.2_Silent_p.I74I	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	74	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAACCTCAAGGATATTGTCTG	0.488000													24	41					0	0	0.014323	0	0
KIF27	55582	broad.mit.edu	37	9	86504116	86504116	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:86504116C>T	ENST00000297814.2	-	7	2005	c.1862G>A	c.(1861-1863)cGa>cAa	p.R621Q	KIF27_ENST00000334204.2_Missense_Mutation_p.R621Q|KIF27_ENST00000376347.1_Missense_Mutation_p.R12Q|KIF27_ENST00000413982.1_Missense_Mutation_p.R621Q	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	621					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ACTTCGTGTTCGAAATCCAGC	0.418000													48	84					0	0	0.014410	0	0
PTPLAD2	401494	broad.mit.edu	37	9	21029392	21029392	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:21029392C>T	ENST00000495827.1	-	2	89	c.44G>A	c.(43-45)aGg>aAg	p.R15K	PTPLAD2_ENST00000513293.2_Missense_Mutation_p.R15K	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	15					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		CGCATTCTTCCTATACCTATA	0.338000													17	87					0	0	0.007413	0	0
TTLL7	79739	broad.mit.edu	37	1	84376910	84376910	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:84376910C>T	ENST00000260505.8	-	15	2101	c.1724G>A	c.(1723-1725)aGa>aAa	p.R575K	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	575				R -> G (in Ref. 4; AAH60878).	cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TTGCTTTTCTCTTTTCTTATT	0.328000													14	38					0	0	0.003163	0	0
USP24	23358	broad.mit.edu	37	1	55547003	55547003	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:55547003C>T	ENST00000294383.6	-	59	7069	c.7070G>A	c.(7069-7071)aGg>aAg	p.R2357K	USP24_ENST00000407756.1_Missense_Mutation_p.R2197K	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2357					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ACCAACATTCCTTTGGGATGA	0.373000													42	264					0	0	0.010771	0	0
FBXW10	10517	broad.mit.edu	37	17	18671950	18671950	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:18671950G>A	ENST00000308799.4	+	9	2114	c.1895G>A	c.(1894-1896)gGg>gAg	p.G632E	FBXW10_ENST00000395665.4_Missense_Mutation_p.G603E|FBXW10_ENST00000395667.1_Missense_Mutation_p.G603E|FBXW10_ENST00000301938.4_Missense_Mutation_p.G603E			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	603										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						AGCATGGTGGGGAAGTACGAG	0.582000													12	14					0	0	0.004007	0	0
COL9A1	1297	broad.mit.edu	37	6	70944264	70944264	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:70944264C>T	ENST00000357250.6	-	35	2450	c.2292G>A	c.(2290-2292)caG>caA	p.Q764Q	RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000320755.7_Silent_p.Q521Q|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Silent_p.Q521Q	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	764	Nonhelical region (NC2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCATGCAAACCTGCTTAATGT	0.353000													6	14					0	0	0.001984	0	0
IGHG4	3503	broad.mit.edu	37	14	106091374	106091374	+	RNA	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:106091374C>A	ENST00000390543.2	-	0	519																											TTGAACTGCTCCTCCCGCGGC	0.592000													33	206					1.45844e-13	1.59759e-13	0.013726	1	0
SLC38A1	81539	broad.mit.edu	37	12	46592514	46592514	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:46592514G>A	ENST00000398637.5	-	14	1710	c.1016C>T	c.(1015-1017)tCc>tTc	p.S339F	SLC38A1_ENST00000549049.1_Missense_Mutation_p.S339F|SLC38A1_ENST00000546893.1_Missense_Mutation_p.S339F|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Missense_Mutation_p.S339F|SLC38A1_ENST00000552197.1_Missense_Mutation_p.S339F	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	339					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			AAGGAGGTCGGACTGCACGTT	0.408000													18	23					0	0	0.010504	0	0
MYO1A	4640	broad.mit.edu	37	12	57431726	57431726	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:57431726C>T	ENST00000442789.2	-	19	2175	c.1888G>A	c.(1888-1890)Ggt>Agt	p.G630S	MYO1A_ENST00000544473.1_Missense_Mutation_p.G468S|MYO1A_ENST00000300119.3_Missense_Mutation_p.G630S	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	630	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GGCCCATAACCCTGGCGGTGG	0.632000													23	15					0	0	0.002780	0	0
ESRRB	2103	broad.mit.edu	37	14	76964706	76964706	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:76964706G>A	ENST00000380887.2	+	7	1279	c.1207G>A	c.(1207-1209)Gcc>Acc	p.A403T	ESRRB_ENST00000556177.1_Missense_Mutation_p.A403T|RP11-187O7.3_ENST00000554926.1_lincRNA|ESRRB_ENST00000261532.7_Missense_Mutation_p.A403T|ESRRB_ENST00000509242.1_Missense_Mutation_p.A403T			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	403						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GCGGCAGACGGCCGCCAAGGC	0.632000													5	11					0	0	0.001168	0	0
EPO	2056	broad.mit.edu	37	7	100320615	100320615	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100320615C>T	ENST00000252723.2	+	5	622	c.441C>T	c.(439-441)tcC>tcT	p.S147S		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	147					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	AAGCCATCTCCCCTCCAGATG	0.537000													26	97					0	0	0.012213	0	0
CD8A	925	broad.mit.edu	37	2	87017743	87017743	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:87017743C>T	ENST00000409511.2	-	5	1141	c.111G>A	c.(109-111)gaG>gaA	p.E37E	CD8A_ENST00000456996.2_Silent_p.E37E|CD8A_ENST00000352580.3_Silent_p.E37E|CD8A_ENST00000283635.3_Silent_p.E37E|CD8A_ENST00000409781.1_Silent_p.E37E|CD8A_ENST00000538832.1_Silent_p.E78E	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	37	Ig-like V-type.				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GCTCCACTGTCTCGCCCAGGT	0.716000													16	25					0	0	0.007413	0	0
CLCA2	9635	broad.mit.edu	37	1	86921097	86921097	+	Silent	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:86921097T>C	ENST00000370565.4	+	14	2881	c.2719T>C	c.(2719-2721)Tta>Cta	p.L907L		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	907					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GAAAGGAGTTTTAACAGCAAT	0.398000													60	106					0	0	0.014410	0	0
KLHDC3	116138	broad.mit.edu	37	6	42985014	42985014	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:42985014C>T	ENST00000326974.4	+	2	279	c.84C>T	c.(82-84)tcC>tcT	p.S28S	KLHDC3_ENST00000244670.8_5'UTR|KLHDC3_ENST00000332245.8_Silent_p.S28S	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	28					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGGTATACTCCTTCGGGGGTT	0.587000													41	82					0	0	0.008740	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56766272	56766272	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:56766272C>T	ENST00000413728.2	-	9	1783	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	ARHGEF3_ENST00000497267.1_Missense_Mutation_p.E379K|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.E440K|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.E414K|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.E408K|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.E408K	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	408	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		ATACTTCTCTCATTGTTGCTG	0.557000													4	41					0	0	0.009096	0	0
FBXO40	51725	broad.mit.edu	37	3	121341093	121341093	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:121341093C>T	ENST00000338040.4	+	3	1231	c.817C>T	c.(817-819)Cag>Tag	p.Q273*		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	273					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		ACAGGAAAATCAGAAGCAGCA	0.493000													11	32					0	0	0.008291	0	0
PSTPIP2	9050	broad.mit.edu	37	18	43591177	43591177	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:43591177G>A	ENST00000409746.5	-	5	395	c.324C>T	c.(322-324)ttC>ttT	p.F108F	PSTPIP2_ENST00000589328.1_Silent_p.F108F|PSTPIP2_ENST00000588801.1_5'UTR	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	108						membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						GCTTTTCCCTGAATTCTTCCA	0.373000													46	87					0	0	0.014410	0	0
PCSK2	5126	broad.mit.edu	37	20	17434578	17434578	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:17434578G>A	ENST00000262545.2	+	9	1392	c.1077G>A	c.(1075-1077)agG>agA	p.R359R	PCSK2_ENST00000377899.1_Silent_p.R340R|PCSK2_ENST00000536609.1_Silent_p.R324R	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	359	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCAACGGGAGGAAAAGGAACC	0.592000													8	21					0	0	0.004482	0	0
COL1A2	1278	broad.mit.edu	37	7	94049955	94049955	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:94049955C>T	ENST00000297268.6	+	37	2761	c.2290C>T	c.(2290-2292)Cca>Tca	p.P764S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	764			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AGCTGCTGGCCCAGCTGTAAG	0.507000										HNSCC(75;0.22)			10	4					0	0	0.008291	0	0
BEND2	139105	broad.mit.edu	37	X	18192218	18192218	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:18192218C>T	ENST00000380033.4	-	12	2045	c.1913G>A	c.(1912-1914)aGt>aAt	p.S638N	BEND2_ENST00000380030.3_Missense_Mutation_p.S547N	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	638										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GATAGCATTACTGTTTGGCTG	0.403000													11	20					0	0	0.010729	0	0
TAAR6	319100	broad.mit.edu	37	6	132891909	132891909	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:132891909G>A	ENST00000275198.1	+	1	449	c.449G>A	c.(448-450)gGa>gAa	p.G150E		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	150						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TCTGTGTCAGGAATTTGCATC	0.502000													29	229					0	0	0.007291	0	0
MACF1	23499	broad.mit.edu	37	1	39852864	39852864	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:39852864C>T	ENST00000564288.1	+	58	15127	c.14350C>T	c.(14350-14352)Cgc>Tgc	p.R4784C	MACF1_ENST00000545844.1_Missense_Mutation_p.R2722C|MACF1_ENST00000372915.3_Missense_Mutation_p.R4789C|MACF1_ENST00000567887.1_Missense_Mutation_p.R4821C|MACF1_ENST00000361689.2_Missense_Mutation_p.R2722C|MACF1_ENST00000289893.4_Missense_Mutation_p.R3224C|MACF1_ENST00000317713.7_Missense_Mutation_p.R2722C|MACF1_ENST00000539005.1_Missense_Mutation_p.R2701C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4789					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTCAGCCGATCGCATTAACAG	0.443000													60	122					0	0	0.014410	0	0
PDE4C	5143	broad.mit.edu	37	19	18332997	18332997	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:18332997C>T	ENST00000355502.3	-	6	1250	c.379G>A	c.(379-381)Gac>Aac	p.D127N	PDE4C_ENST00000594617.2_Missense_Mutation_p.D127N|PDE4C_ENST00000262805.11_Missense_Mutation_p.D95N|PDE4C_ENST00000594465.2_Missense_Mutation_p.D127N|PDE4C_ENST00000447275.2_Missense_Mutation_p.D21N			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	127					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	AGTTCATAGTCGCTATCTGAG	0.652000													4	27					0	0	0.000602	0	0
KRT26	353288	broad.mit.edu	37	17	38928356	38928356	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:38928356G>A	ENST00000335552.4	-	1	58	c.10C>T	c.(10-12)Cga>Tga	p.R4*		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	4	Head.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CCAGAAAGTCGAAAAGACATG	0.557000													47	17					0	0	0.010771	0	0
EPHA4	2043	broad.mit.edu	37	2	222365816	222365816	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:222365816G>A	ENST00000281821.2	-	4	941	c.900C>T	c.(898-900)gtC>gtT	p.V300V	EPHA4_ENST00000409938.1_Silent_p.V300V|EPHA4_ENST00000409854.1_Silent_p.V300V|EPHA4_ENST00000392071.4_Silent_p.V249V	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	300	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CTCCTTCCCAGACAGAGTAGC	0.522000													20	39					0	0	0.012319	0	0
CACNA1B	774	broad.mit.edu	37	9	140777318	140777318	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:140777318C>T	ENST00000371372.1	+	3	658	c.513C>T	c.(511-513)ttC>ttT	p.F171F	RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000371357.1_Silent_p.F171F|CACNA1B_ENST00000277551.2_Silent_p.F171F|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Silent_p.F171F|CACNA1B_ENST00000371355.4_Silent_p.F171F	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	171					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCATGGACTTCGTGGTCGTCC	0.607000													35	229					0	0	0.010771	0	0
TM4SF19	116211	broad.mit.edu	37	3	196054333	196054333	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:196054333G>A	ENST00000446879.1	-	2	254	c.129C>T	c.(127-129)gtC>gtT	p.V43V	TM4SF19_ENST00000454715.1_Silent_p.V43V|TM4SF19_ENST00000273695.3_Silent_p.V43V			Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	43						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		ACAGGTAGGTGACATCCCAGT	0.617000													17	65					0	0	0.006122	0	0
DPYS	1807	broad.mit.edu	37	8	105405184	105405184	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:105405184T>A	ENST00000351513.2	-	8	1403	c.1271A>T	c.(1270-1272)aAc>aTc	p.N424I	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	424					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AATGTTGAAGTTAACAGCCTG	0.413000													17	47					0	0	0.004990	0	0
SPRR4	163778	broad.mit.edu	37	1	152944534	152944534	+	Silent	SNP	G	G	A	rs147360157		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152944534G>A	ENST00000328051.2	+	2	217	c.168G>A	c.(166-168)ccG>ccA	p.P56P		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	56	Gln-rich.				keratinization|peptide cross-linking	cell cortex		p.P56P(1)		lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AATGCCCACCGAAAGGCACCA	0.522000													20	51					0	0	0.012319	0	0
SORCS3	22986	broad.mit.edu	37	10	107022213	107022213	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:107022213G>A	ENST00000369701.3	+	26	3795	c.3568G>A	c.(3568-3570)Gag>Aag	p.E1190K		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1190						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGAGCCTGAGGAGCTGCTGGA	0.532000													8	26					0	0	0.006214	0	0
RNF8	9025	broad.mit.edu	37	6	37336500	37336500	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:37336500T>A	ENST00000373479.4	+	3	674	c.481T>A	c.(481-483)Tta>Ata	p.L161I	RNF8_ENST00000469731.1_Missense_Mutation_p.L161I|RNF8_ENST00000479516.1_3'UTR	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	161					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						TTTGGATGAATTAGCAGGTCC	0.383000													19	30					0	0	0.007413	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140763674	140763674	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140763674G>A	ENST00000518325.1	+	1	1208	c.1208G>A	c.(1207-1209)aGa>aAa	p.R403K	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATTATTATAGATTGGTCACA	0.398000													3	1					0	0	0.004672	0	0
VWCE	220001	broad.mit.edu	37	11	61048587	61048587	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:61048587G>A	ENST00000335613.5	-	8	1294	c.908C>T	c.(907-909)cCt>cTt	p.P303L		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	303						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						AGCCCCAGAAGGAGGGCTATG	0.677000													24	32					0	0	0.003330	0	0
KIF21B	23046	broad.mit.edu	37	1	200943941	200943941	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:200943941C>T	ENST00000332129.2	-	33	4992	c.4676G>A	c.(4675-4677)tGg>tAg	p.W1559*	KIF21B_ENST00000360529.5_Nonsense_Mutation_p.W1559*|KIF21B_ENST00000422435.2_Nonsense_Mutation_p.W1572*|KIF21B_ENST00000461742.2_Nonsense_Mutation_p.W1572*	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1572					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GTCCACGTTCCAGACCTTGAT	0.602000													44	96					0	0	0.014410	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10525256	10525256	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:10525256C>T	ENST00000396560.2	+	3	1006	c.779C>T	c.(778-780)tCa>tTa	p.S260L	ATF7IP2_ENST00000396559.1_Missense_Mutation_p.S260L|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.S260L|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.S260L	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						ACCAGTATTTCAAATTGTGAA	0.343000													12	38					0	0	0.003163	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21422553	21422553	+	Missense_Mutation	SNP	C	C	T	rs150224028	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:21422553C>T	ENST00000307378.6	-	16	2662	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K	SLCO1A2_ENST00000537524.1_Missense_Mutation_p.E516K|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.E516K|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.E648K	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	648					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						CACTCATTTTCCTTCCCTTTG	0.333000													28	42					0	0	0.007291	0	0
MUC13	56667	broad.mit.edu	37	3	124642454	124642454	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:124642454G>A	ENST00000311075.3	-	3	592	c.554C>T	c.(553-555)tCg>tTg	p.S185L		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	185	EGF-like 1.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						AACACATAACGAATTATCTGC	0.383000													13	28					0	0	0.001855	0	0
SLC9A1	6548	broad.mit.edu	37	1	27436209	27436209	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:27436209G>A	ENST00000263980.3	-	3	1448	c.873C>T	c.(871-873)atC>atT	p.I291I	SLC9A1_ENST00000374086.3_Silent_p.I291I|SLC9A1_ENST00000545949.1_5'UTR	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	291					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	AGCCGAGGAAGATGTCCACGA	0.622000													34	73					0	0	0.003755	0	0
TSPAN10	83882	broad.mit.edu	37	17	79612079	79612079	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:79612079C>T	ENST00000328585.4	+	0	188				TSPAN10_ENST00000572675.1_RNA	NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGCCTAGGTCCAGTGCCCAGG	0.657000													10	29					0	0	0.013537	0	0
FOXR2	139628	broad.mit.edu	37	X	55650865	55650865	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:55650865C>T	ENST00000339140.3	+	1	1033	c.721C>T	c.(721-723)Cat>Tat	p.H241Y		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	241					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						GAGCACCATTCATTACAACCT	0.507000													30	9					0	0	0.013726	0	0
PGM5	5239	broad.mit.edu	37	9	71002416	71002416	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:71002416C>T	ENST00000396396.1	+	4	838	c.609C>T	c.(607-609)ctC>ctT	p.L203L	PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Silent_p.L203L	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	203					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ATCTTAACCTCCTTCGGACCA	0.438000													40	55					0	0	0.009718	0	0
MMP3	4314	broad.mit.edu	37	11	102713310	102713310	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:102713310C>T	ENST00000299855.5	-	3	607	c.350_splice	c.e3-1	p.R117_splice		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	117					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	AATTCACAATCCTGTAGGAGA	0.378000													22	48					0	0	0.012319	0	0
FBXO30	84085	broad.mit.edu	37	6	146127418	146127418	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:146127418G>A	ENST00000237281.4	-	2	290	c.124C>T	c.(124-126)Cat>Tat	p.H42Y		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	42							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		TTACAAGAATGGAAAACTGCA	0.438000													22	49					0	0	0.010504	0	0
ALS2	57679	broad.mit.edu	37	2	202617878	202617878	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:202617878C>T	ENST00000264276.6	-	7	2100	c.1728G>A	c.(1726-1728)gcG>gcA	p.A576A		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	576					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CCTGGGATTTCGCAGTAAGTG	0.403000													37	70					0	0	0.007835	0	0
MARVELD3	91862	broad.mit.edu	37	16	71674741	71674741	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:71674741G>A	ENST00000299952.4	+	3	1087	c.1044G>A	c.(1042-1044)tgG>tgA	p.W348*	MARVELD3_ENST00000561682.1_Intron|PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000565261.1_3'UTR	NM_001017967.2	NP_001017967.2	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	351	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GTCTCACCTGGATGGACTGCC	0.587000													14	34					0	0	0.004990	0	0
MSR1	4481	broad.mit.edu	37	8	16026228	16026228	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:16026228C>T	ENST00000350896.3	-	4	566	c.369G>A	c.(367-369)aaG>aaA	p.K123K	MSR1_ENST00000262101.5_Silent_p.K123K|MSR1_ENST00000445506.2_Silent_p.K141K|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000355282.2_Silent_p.K123K|MSR1_ENST00000381998.4_Silent_p.K123K	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	123					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GCTGGATTCTCTTCTCCATGT	0.378000													34	87					0	0	0.005524	0	0
TCF21	6943	broad.mit.edu	37	6	134210590	134210590	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:134210590G>A	ENST00000367882.4	+	1	315	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.E19K	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	19					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		GGAGATGTTGGAATGTGACGG	0.542000													30	51					0	0	0.012213	0	0
SI	6476	broad.mit.edu	37	3	164716441	164716441	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:164716441C>T	ENST00000264382.3	-	38	4489	c.4427G>A	c.(4426-4428)gGa>gAa	p.G1476E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1476	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)	CCCTCTTTTTCCAGTTGTCTT	0.388000										HNSCC(35;0.089)			5	27					0	0	0.001984	0	0
KCNB2	9312	broad.mit.edu	37	8	73849256	73849256	+	Missense_Mutation	SNP	C	C	T	rs144823279		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:73849256C>T	ENST00000523207.1	+	3	2254	c.1666C>T	c.(1666-1668)Cca>Tca	p.P556S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	556					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TCATTCTCACCCAAACCCAGA	0.512000													15	44					0	0	0.004990	0	0
SLC17A1	6568	broad.mit.edu	37	6	25799016	25799016	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:25799016G>A	ENST00000244527.4	-	12	1516	c.1401C>T	c.(1399-1401)ctC>ctT	p.L467L	SLC17A1_ENST00000468082.1_Silent_p.L413L|SLC17A1_ENST00000476801.1_Silent_p.L467L|SLC17A1_ENST00000427328.1_Silent_p.L413L	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	467					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						CTCACCTTCAGAGACGTGTGT	0.433000													24	49					0	0	0.003954	0	0
NAV3	89795	broad.mit.edu	37	12	78594372	78594372	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:78594372G>A	ENST00000397909.2	+	38	7007		c.e38+1		NAV3_ENST00000541270.1_Splice_Site|NAV3_ENST00000228327.6_Splice_Site|NAV3_ENST00000266692.7_Splice_Site|NAV3_ENST00000536525.2_Splice_Site			Q8IVL0	NAV3_HUMAN	neuron navigator 3							nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGGTCTTCAGGTATAGTACTC	0.318000										HNSCC(70;0.22)			23	11					0	0	0.014323	0	0
OR2T4	127074	broad.mit.edu	37	1	248524930	248524930	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248524930C>T	ENST00000366475.1	+	1	48	c.48C>T	c.(46-48)ttC>ttT	p.F16F		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGTCGGATTTCATCCTGATGG	0.493000													19	40					0	0	0.010504	0	0
PGM5P2	595135	broad.mit.edu	37	9	69127060	69127060	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:69127060C>T	ENST00000591037.1	-	0	498					NR_002836.2																						CTGCCTTGATCTTCCTGATAA	0.438000													8	20					0	0	0.006214	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738765	176738765	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:176738765C>T	ENST00000367662.3	+	16	5510	c.4346C>T	c.(4345-4347)tCt>tTt	p.S1449F		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1449	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTCACATGTTCTTCTGGGCAC	0.478000													30	42					0	0	0.012213	0	0
NOS2	4843	broad.mit.edu	37	17	26101376	26101376	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:26101376C>T	ENST00000313735.6	-	12	1616	c.1383G>A	c.(1381-1383)tgG>tgA	p.W461*		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	461					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CCAGCCAAATCCAGTCTGCCG	0.552000													18	20					0	0	0.007413	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3669801	3669801	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:3669801C>T	ENST00000344754.4	-	20	5070		c.e20+1		SIGLEC1_ENST00000202578.4_Intron	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin						cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TGAATGGATACCTGCGTGGTC	0.532000													41	63					0	0	0.010771	0	0
TF	7018	broad.mit.edu	37	3	133475779	133475779	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:133475779C>T	ENST00000402696.3	+	7	1281	c.796C>T	c.(796-798)Cct>Tct	p.P266S	TF_ENST00000264998.3_Missense_Mutation_p.P139S	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	266	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GGCCCAGGTCCCTTCTCATAC	0.587000													15	53					0	0	0.006122	0	0
CCR5	1234	broad.mit.edu	37	3	46414700	46414700	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:46414700C>T	ENST00000343801.4	+	3	664	c.307C>T	c.(307-309)Ctc>Ttc	p.L103F	CCR5_ENST00000292303.4_Missense_Mutation_p.L103F|CCR5_ENST00000445772.1_Missense_Mutation_p.L103F|RP11-24F11.2_ENST00000451485.1_RNA	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	103					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	AATGTGTCAACTCTTGACAGG	0.488000													59	170					0	0	0.014410	0	0
VAPB	9217	broad.mit.edu	37	20	56993269	56993269	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:56993269C>T	ENST00000475243.1	+	2	399	c.61C>T	c.(61-63)Ccc>Tcc	p.P21S	VAPB_ENST00000265619.2_3'UTR|VAPB_ENST00000395802.3_Missense_Mutation_p.P21S	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	21	MSP.				cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			TTCTACAGGTCCCTTCACCGA	0.448000													18	65					0	0	0.008871	0	0
EPHA10	284656	broad.mit.edu	37	1	38185154	38185154	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:38185154G>A	ENST00000373048.4	-	15	2687	c.2688C>T	c.(2686-2688)atC>atT	p.I896I	EPHA10_ENST00000540011.1_Intron|EPHA10_ENST00000330210.7_Silent_p.I391I|EPHA10_ENST00000427468.2_Silent_p.I896I|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	896	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGATGCTGTGGATCTGGGAGA	0.617000													29	43					0	0	0.003271	0	0
CERS2	29956	broad.mit.edu	37	1	150936861	150936861	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:150936861C>T	ENST00000561294.1	-	10	1087	c.1066G>A	c.(1066-1068)Ggt>Agt	p.G356S	SETDB1_ENST00000271640.5_3'UTR|SETDB1_ENST00000368969.4_3'UTR			Q96G23	CERS2_HUMAN	ceramide synthase 2	0						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TCTTCCCAACCCTTCTTGAAC	0.532000													4	9					0	0	0.009096	0	0
KAT6A	7994	broad.mit.edu	37	8	41801318	41801318	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:41801318C>T	ENST00000396930.3	-	14	2719	c.2176G>A	c.(2176-2178)Gac>Aac	p.D726N	KAT6A_ENST00000406337.1_Missense_Mutation_p.D726N|KAT6A_ENST00000265713.2_Missense_Mutation_p.D726N|KAT6A_ENST00000485568.1_Missense_Mutation_p.D726N	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	726	Catalytic.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GAAGTGATGTCTTGAGGGCAG	0.403000													24	60					0	0	0.006320	0	0
OR2M4	26245	broad.mit.edu	37	1	248403085	248403085	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248403085G>A	ENST00000306687.1	+	1	855	c.855G>A	c.(853-855)ctG>ctA	p.L285L		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCCCTATGCTGAACCCTCTCA	0.433000													21	30					0	0	0.014323	0	0
XYLT1	64131	broad.mit.edu	37	16	17232272	17232272	+	Silent	SNP	G	G	A	rs139802880	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:17232272G>A	ENST00000261381.6	-	8	1788	c.1704C>T	c.(1702-1704)atC>atT	p.I568I	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	568					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACCAGTCCACGATGTGCTTGT	0.582000													7	38					0	0	0.006214	0	0
CLIC6	54102	broad.mit.edu	37	21	36081660	36081660	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:36081660G>A	ENST00000360731.3	+	6	1777	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K	CLIC6_ENST00000349499.2_Missense_Mutation_p.E575K			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	593	GST C-terminal.					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						TTTAGTTCATGAAAAGAACCT	0.458000													9	37					0	0	0.004482	0	0
SLC16A6	9120	broad.mit.edu	37	17	66267746	66267746	+	Silent	SNP	G	G	A	rs141718604		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:66267746G>A	ENST00000327268.4	-	6	719	c.555C>T	c.(553-555)ttC>ttT	p.F185F	SLC16A6_ENST00000580666.1_Silent_p.F185F|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	185						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GTAGGCCCACGAAGAGGAGGC	0.458000													16	28					0	0	0.006122	0	0
DNAH5	1767	broad.mit.edu	37	5	13841984	13841984	+	Silent	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:13841984A>T	ENST00000265104.4	-	33	5405	c.5301T>A	c.(5299-5301)tcT>tcA	p.S1767S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1767	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CACCCTCTTGAGAGGAAATTG	0.333000									Kartagener syndrome				17	38					0	0	0.004990	0	0
PHLDB2	90102	broad.mit.edu	37	3	111632319	111632319	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:111632319G>A	ENST00000431670.2	+	3	1900	c.1489G>A	c.(1489-1491)Gaa>Aaa	p.E497K	PHLDB2_ENST00000412622.1_Missense_Mutation_p.E497K|PHLDB2_ENST00000477695.1_Missense_Mutation_p.E497K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E497K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E524K|PHLDB2_ENST00000495180.1_Missense_Mutation_p.E83K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E497K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	497						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGTGTTTGAGGAAGCCCTCAT	0.532000													25	59					0	0	0.005443	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209591	140209591	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140209591G>A	ENST00000529310.1	+	1	2029	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCTGGACGAAGCGGACTC	0.667000													10	31					0	0	0.008291	0	0
RPP25L	138716	broad.mit.edu	37	9	34611258	34611258	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:34611258G>A	ENST00000297613.4	-	2	316	c.36C>T	c.(34-36)ctC>ctT	p.L12L	RPP25L_ENST00000378959.4_Silent_p.L12L	NM_148179.2	NP_680545.1	Q8N5L8	CI023_HUMAN	ribonuclease P/MRP 25kDa subunit-like	12							nucleic acid binding										AAGGCGCTGGGAGCTCTACAG	0.582000													7	22					0	0	0.004482	0	0
JAK3	3718	broad.mit.edu	37	19	17945447	17945447	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:17945447G>A	ENST00000458235.1	-	17	2382	c.2283C>T	c.(2281-2283)gcC>gcT	p.A761A	JAK3_ENST00000527670.1_Silent_p.A761A|JAK3_ENST00000534444.1_Silent_p.A761A	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	761	Protein kinase 1.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.A761A(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CCGGCTCATAGGCCATGCACT	0.612000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								27	67					0	0	0.009535	0	0
LPO	4025	broad.mit.edu	37	17	56320356	56320356	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:56320356C>T	ENST00000262290.4	+	2	332	c.16C>T	c.(16-18)Cat>Tat	p.H6Y	LPO_ENST00000421678.2_Missense_Mutation_p.H6Y|LPO_ENST00000582328.1_Missense_Mutation_p.H6Y|LPO_ENST00000543544.1_5'UTR	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	6					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGTCCTTCTCCATCTCCCAGC	0.537000													116	72					0	0	0.014410	0	0
GRHL1	29841	broad.mit.edu	37	2	10105479	10105479	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:10105479C>T	ENST00000324907.9	+	8	1215	c.1079C>T	c.(1078-1080)tCc>tTc	p.S360F	GRHL1_ENST00000324883.5_Missense_Mutation_p.S171F|GRHL1_ENST00000405379.2_Missense_Mutation_p.S360F	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	360					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		AACGCCATTTCCTTCACATGG	0.443000													23	39					0	0	0.002780	0	0
MRPL44	65080	broad.mit.edu	37	2	224822312	224822312	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:224822312C>T	ENST00000258383.3	+	1	192	c.123C>T	c.(121-123)ttC>ttT	p.F41F		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	41					RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCTTCCGCTTCCAGAAGGAGT	0.692000													4	16					0	0	0.000602	0	0
UBQLN4	56893	broad.mit.edu	37	1	156011382	156011382	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:156011382G>A	ENST00000368309.3	-	10	1639	c.1547C>T	c.(1546-1548)tCc>tTc	p.S516F	UBQLN4_ENST00000368307.1_Silent_p.F168F	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	516						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding	p.S516F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GGCTGGTGAGGAAGTGGGGGC	0.607000													4	30					0	0	0.009096	0	0
MYH13	8735	broad.mit.edu	37	17	10265528	10265528	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:10265528C>T	ENST00000418404.3	-	4	575	c.412G>A	c.(412-414)Gag>Aag	p.E138K	MYH13_ENST00000570743.1_Missense_Mutation_p.E138K|MYH13_ENST00000252172.4_Missense_Mutation_p.E138K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	138	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCACCACCTCGGGCTTGTAC	0.537000													21	37					0	0	0.013726	0	0
OR52E8	390079	broad.mit.edu	37	11	5878069	5878069	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5878069G>A	ENST00000537935.1	-	1	895	c.864C>T	c.(862-864)gtC>gtT	p.V288V	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCTGGTGGGACAACCACAT	0.408000													43	80					0	0	0.007835	0	0
OR7G1	125962	broad.mit.edu	37	19	9225996	9225996	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9225996G>A	ENST00000293614.1	-	1	443	c.444C>T	c.(442-444)tcC>tcT	p.S148S	OR7G1_ENST00000541538.1_Silent_p.S148S			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						TCATGAACATGGAGAGAAGAA	0.488000													22	55					0	0	0.003954	0	0
TTC7B	145567	broad.mit.edu	37	14	91123621	91123621	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:91123621G>A	ENST00000357056.2	-	11	1359	c.1236_splice	c.e11-1	p.S413_splice	TTC7B_ENST00000328459.6_Splice_Site_p.S413_splice			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	413							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				GGCACGGGCAGACTTGGCAAG	0.542000													11	27					0	0	0.010729	0	0
WFDC8	90199	broad.mit.edu	37	20	44187548	44187548	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:44187548C>T	ENST00000357199.4	-	3	298	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	WFDC8_ENST00000289953.2_Missense_Mutation_p.E74K	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	74	WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				TTCTGGTATTCCTTGCAGTCA	0.478000													28	83					0	0	0.009535	0	0
AKNA	80709	broad.mit.edu	37	9	117099518	117099518	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:117099518G>A	ENST00000307564.4	-	22	4297	c.4136C>T	c.(4135-4137)cCa>cTa	p.P1379L	AKNA_ENST00000374079.4_Missense_Mutation_p.P324L|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374075.5_Missense_Mutation_p.P1298L|AKNA_ENST00000223791.3_Missense_Mutation_p.P839L|AKNA_ENST00000374088.3_Missense_Mutation_p.P1379L	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CCGGGCTGGTGGGGGAGAGGC	0.657000													7	47					0	0	0.004482	0	0
PAK4	10298	broad.mit.edu	37	19	39669193	39669193	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:39669193C>T	ENST00000599386.1	+	9	1472	c.1291C>T	c.(1291-1293)Ctc>Ttc	p.L431F	PAK4_ENST00000435673.2_Missense_Mutation_p.L584F|PAK4_ENST00000358301.3_Missense_Mutation_p.L584F|PAK4_ENST00000360442.3_Missense_Mutation_p.L584F|PAK4_ENST00000599470.1_Missense_Mutation_p.L431F|PAK4_ENST00000321944.4_Missense_Mutation_p.L494F|PAK4_ENST00000593690.1_Missense_Mutation_p.L584F	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	584	Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CATCGTGCCCCTCATGCGCCA	0.716000													8	24					0	0	0.003080	0	0
MYO18B	84700	broad.mit.edu	37	22	26164822	26164822	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:26164822C>T	ENST00000335473.7	+	4	1189	c.939C>T	c.(937-939)atC>atT	p.I313I	MYO18B_ENST00000536101.1_Silent_p.I313I|MYO18B_ENST00000407587.2_Silent_p.I313I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	313						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGCCCCAAATCCCTGGGAGAA	0.532000													5	13					0	0	0.001168	0	0
SCUBE1	80274	broad.mit.edu	37	22	43735128	43735128	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:43735128C>T	ENST00000360835.3	-	2	328	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	SCUBE1_ENST00000290460.7_Missense_Mutation_p.E68K	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	68	EGF-like 1; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TGCTTGCCTTCCCCCTTGTAG	0.612000													25	51					0	0	0.004656	0	0
POM121C	100101267	broad.mit.edu	37	7	75051364	75051364	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:75051364G>A	ENST00000453279.2	-	13	3035	c.2171C>T	c.(2170-2172)cCc>cTc	p.P724L	POM121C_ENST00000257665.5_Missense_Mutation_p.P966L	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	966	Pore side (Potential).				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GCCAAAGCTGGGGGTAAGGGC	0.667000													5	18					0	0	0.003080	0	0
NTRK1	4914	broad.mit.edu	37	1	156843675	156843675	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:156843675C>T	ENST00000368196.3	+	8	1221	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F	NTRK1_ENST00000358660.3_Silent_p.F367F|NTRK1_ENST00000524377.1_Silent_p.F367F|NTRK1_ENST00000392302.2_Silent_p.F337F	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	367					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CCAACCCCTTCGGCCAGGCCT	0.647000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			3	8					0	0	0.004672	0	0
NAT2	10	broad.mit.edu	37	8	18258007	18258007	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:18258007G>A	ENST00000286479.3	+	2	601	c.494G>A	c.(493-495)aGg>aAg	p.R165K	NAT2_ENST00000520116.1_Missense_Mutation_p.R35K	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	165					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		GACCAAATCAGGAGAGAGCAG	0.403000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				8	38					0	0	0.006214	0	0
CDK20	23552	broad.mit.edu	37	9	90584230	90584230	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:90584230G>A	ENST00000375883.3	-	6	965	c.659C>T	c.(658-660)tCc>tTc	p.S220F	CDK20_ENST00000325303.8_Missense_Mutation_p.S241F|CDK20_ENST00000605159.1_Missense_Mutation_p.S220F|CDK20_ENST00000375871.4_Missense_Mutation_p.P179S|CDK20_ENST00000336654.5_Missense_Mutation_p.S233F	NM_001170639.1|NM_012119.4|NM_178432.3	NP_001164110.1|NP_036251.2|NP_848519.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	241	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						CTCCTTAAAGGAGATCTTGTT	0.577000													19	74					0	0	0.012319	0	0
LYNX1	66004	broad.mit.edu	37	8	143846075	143846075	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:143846075C>T	ENST00000335822.5	-	5	971	c.344G>A	c.(343-345)gGc>gAc	p.G115D	LYNX1_ENST00000317543.7_Missense_Mutation_p.G81D|RP11-706C16.7_ENST00000523657.1_RNA|LYNX1_ENST00000523332.1_Intron	NM_023946.2	NP_076435.1	Q86SR0	SLUR2_HUMAN	Ly6/neurotoxin 1	81						extracellular region				endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TACGTAGGGGCCCAGGCCCAG	0.652000													28	49					0	0	0.006320	0	0
MYH8	4626	broad.mit.edu	37	17	10307766	10307766	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:10307766C>T	ENST00000403437.2	-	22	2663	c.2569G>A	c.(2569-2571)Gaa>Aaa	p.E857K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	857					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGGAATTCTTCCTTCATGGTG	0.448000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				16	64					0	0	0.004007	0	0
ATMIN	23300	broad.mit.edu	37	16	81075941	81075941	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:81075941C>T	ENST00000566488.1	+	2	1013	c.50C>T	c.(49-51)tCg>tTg	p.S17L	ATMIN_ENST00000299575.4_Missense_Mutation_p.S173L|ATMIN_ENST00000564241.1_Missense_Mutation_p.S17L|ATMIN_ENST00000539819.1_Intron			O43313	ATMIN_HUMAN	ATM interactor	173	Ala-rich.				response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						TGCAGCAATTCGTACGGTACA	0.493000													39	44					0	0	0.005524	0	0
TMEM132A	54972	broad.mit.edu	37	11	60699489	60699489	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:60699489G>A	ENST00000005286.4	+	7	1402	c.1249G>A	c.(1249-1251)Gga>Aga	p.G417R	TMEM132A_ENST00000453848.2_Missense_Mutation_p.G416R	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	416						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						ACCACTGACTGGAGTGCCCCA	0.662000													25	33					0	0	0.003330	0	0
KARS	3735	broad.mit.edu	37	16	75669881	75669881	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:75669881G>A	ENST00000319410.5	-	6	803	c.682C>T	c.(682-684)Ccg>Tcg	p.P228S	KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Missense_Mutation_p.P200S	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	200					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	ATCTCATACGGAATGATGCTC	0.448000													15	22					0	0	0.002450	0	0
MYO3B	140469	broad.mit.edu	37	2	171358335	171358335	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:171358335A>G	ENST00000334231.6	+	28	3357	c.3357A>G	c.(3355-3357)atA>atG	p.I1119M	MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000409044.3_Intron|MYO3B_ENST00000408978.4_Missense_Mutation_p.I1110M			Q8WXR4	MYO3B_HUMAN	myosin IIIB	1110					response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TTAAGAAAATAAGCAACAGAA	0.358000													7	25					0	0	0.006214	0	0
SZT2	23334	broad.mit.edu	37	1	43886602	43886602	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:43886602C>T	ENST00000562955.1	+	10	1444	c.1444C>T	c.(1444-1446)Cgt>Tgt	p.R482C		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	482						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCAGCCCATTCGTTCATTGTA	0.527000													46	116					0	0	0.014410	0	0
OTOGL	283310	broad.mit.edu	37	12	80761442	80761442	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:80761442C>T	ENST00000458043.2	+	53	6412	c.6406C>T	c.(6406-6408)Ctg>Ttg	p.L2136L	OTOGL_ENST00000546620.1_Silent_p.L155L|OTOGL_ENST00000547103.1_Silent_p.L2124L	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TATAGAGTGTCTGGAAGAAAA	0.323000													9	0					0	0	0.004482	0	0
OTOA	146183	broad.mit.edu	37	16	21709108	21709108	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:21709108C>T	ENST00000388958.3	+	9	753	c.752C>T	c.(751-753)tCa>tTa	p.S251L	OTOA_ENST00000286149.4_Missense_Mutation_p.S251L|OTOA_ENST00000388956.4_Missense_Mutation_p.S172L	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	251					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GACTCTGCTTCATGGGTCAGT	0.353000													22	72					0	0	0.002780	0	0
SLC26A5	375611	broad.mit.edu	37	7	103050852	103050852	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:103050852C>T	ENST00000306312.3	-	7	976	c.715G>A	c.(715-717)Gga>Aga	p.G239R	SLC26A5_ENST00000393729.1_Missense_Mutation_p.G202R|SLC26A5_ENST00000393723.1_Missense_Mutation_p.G239R|SLC26A5_ENST00000432958.2_Missense_Mutation_p.G239R|SLC26A5_ENST00000393727.1_Missense_Mutation_p.G239R|SLC26A5_ENST00000393730.1_Missense_Mutation_p.G239R|SLC26A5_ENST00000393735.2_Missense_Mutation_p.G239R|SLC26A5_ENST00000339444.6_Missense_Mutation_p.G239R|SLC26A5_ENST00000356767.4_Missense_Mutation_p.G239R|SLC26A5_ENST00000354356.4_5'UTR	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	239					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GAAAAGATTCCACTGTACCGC	0.433000													14	37					0	0	0.003163	0	0
SEC24D	9871	broad.mit.edu	37	4	119666174	119666174	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:119666174G>A	ENST00000379735.5	-	14	2023	c.1752C>T	c.(1750-1752)tcC>tcT	p.S584S	SEC24D_ENST00000280551.6_Silent_p.S583S|SEC24D_ENST00000419654.2_Silent_p.S139S|SEC24D_ENST00000511481.1_Silent_p.S214S|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000429811.2_Silent_p.S139S	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	583					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			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CAGTTGGCAAGGAAGAATGGA	0.398000													29	23					0	0	0.009535	0	0
GRIK2	2898	broad.mit.edu	37	6	102124583	102124583	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:102124583G>A	ENST00000369138.1	+	4	1117	c.627G>A	c.(625-627)aaG>aaA	p.K209K	GRIK2_ENST00000421544.1_Silent_p.K209K|GRIK2_ENST00000413795.1_Silent_p.K209K|GRIK2_ENST00000358361.3_Silent_p.K209K|GRIK2_ENST00000318991.6_Silent_p.K209K|GRIK2_ENST00000369134.4_Silent_p.K160K|GRIK2_ENST00000369137.3_Silent_p.K209K	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	209					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CTGATACAAAGGATGCAAAAC	0.368000													9	22					0	0	0.004482	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45567095	45567095	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:45567095C>T	ENST00000588982.1	-	3	885	c.384G>A	c.(382-384)gaG>gaA	p.E128E	ZBTB7C_ENST00000586438.1_Silent_p.E128E|ZBTB7C_ENST00000535628.2_Silent_p.E128E|ZBTB7C_ENST00000332053.2_Silent_p.E128E|ZBTB7C_ENST00000590800.1_Silent_p.E128E			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	128	Glu-rich.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						cccccCCAGGCTCCATGATCT	0.592000													5	19					0	0	0.000602	0	0
KDR	3791	broad.mit.edu	37	4	55970896	55970896	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:55970896A>T	ENST00000263923.4	-	13	2196	c.1901T>A	c.(1900-1902)tTg>tAg	p.L634*		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	634	Ig-like C2-type 6.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTGGTCCTGCAAGGATGCATT	0.443000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			14	15					0	0	0.001855	0	0
TEKT4	150483	broad.mit.edu	37	2	95540641	95540641	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:95540641C>T	ENST00000295201.4	+	4	971	c.834C>T	c.(832-834)tcC>tcT	p.S278S	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	278					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCGACACCTCCGAGGACCTGC	0.682000													3	15					0	0	0.004672	0	0
XKR4	114786	broad.mit.edu	37	8	56435906	56435906	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:56435906G>A	ENST00000327381.5	+	3	1173	c.1073G>A	c.(1072-1074)cGg>cAg	p.R358Q		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	358						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			AAGGCCCTCCGGGACTCTCGA	0.577000													6	28					0	0	0.001168	0	0
FREM1	158326	broad.mit.edu	37	9	14789061	14789061	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:14789061C>T	ENST00000380881.4	-	24	4851	c.4036G>A	c.(4036-4038)Gaa>Aaa	p.E1346K	FREM1_ENST00000380880.3_Missense_Mutation_p.E1345K|FREM1_ENST00000422223.2_Missense_Mutation_p.E1345K			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1345					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGATCCACTTCCTCCTGAGTG	0.507000													6	4					0	0	0.001168	0	0
CMA1	1215	broad.mit.edu	37	14	24975483	24975483	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:24975483C>T	ENST00000250378.3	-	4	380	c.351G>A	c.(349-351)aaG>aaA	p.K117K	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Silent_p.K6K	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	117	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		TGGCTTTCTCCTTCAACTGTG	0.557000													5	33					0	0	0.004482	0	0
SH3RF3	344558	broad.mit.edu	37	2	110065723	110065723	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:110065723C>T	ENST00000309415.6	+	8	1926	c.1926C>T	c.(1924-1926)ctC>ctT	p.L642L		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	642							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CCACCAGCCTCAGGCCCCACT	0.692000													7	7					0	0	0.003080	0	0
SDK1	221935	broad.mit.edu	37	7	3861081	3861081	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:3861081G>A	ENST00000404826.2	+	5	852		c.e5-1		SDK1_ENST00000389531.3_Splice_Site	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1						cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TTCTGAAACAGAGCCATCACA	0.453000													20	43					0	0	0.012319	0	0
OR2M4	26245	broad.mit.edu	37	1	248402372	248402372	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248402372C>T	ENST00000306687.1	+	1	142	c.142C>T	c.(142-144)Ctc>Ttc	p.L48F		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATGGTTCTCCTCATCTACAT	0.483000													37	69					0	0	0.006999	0	0
TRIM56	81844	broad.mit.edu	37	7	100730624	100730624	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100730624C>T	ENST00000306085.6	+	3	328	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	11					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCCTCCCTCCTGGAGGCCCT	0.612000													50	84					0	0	0.014410	0	0
ANK3	288	broad.mit.edu	37	10	61831637	61831637	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:61831637T>G	ENST00000280772.1	-	37	9193	c.9002A>C	c.(9001-9003)aAa>aCa	p.K3001T	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3001					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AACTGTCTCTTTACTCATGCT	0.363000													8	23					0	0	0.003080	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596614	24596614	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:24596614G>A	ENST00000535378.1	-	4	903	c.261C>T	c.(259-261)atC>atT	p.I87I	KIAA0319_ENST00000537886.1_Silent_p.I96I|KIAA0319_ENST00000378214.3_Silent_p.I96I|KIAA0319_ENST00000543707.1_Silent_p.I96I|KIAA0319_ENST00000430948.2_Silent_p.I51I	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	96	MANSC.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GATAAGACCTGATGGGGCCCA	0.602000													10	54					0	0	0.010729	0	0
KCNK1	3775	broad.mit.edu	37	1	233807017	233807017	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:233807017G>A	ENST00000366621.3	+	3	920	c.751_splice	c.e3-1	p.C251_splice	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Splice_Site_p.C135_splice	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	251						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TCTCACACAGGTTACCTGCTA	0.418000													40	79					0	0	0.014410	0	0
DNAH17	8632	broad.mit.edu	37	17	76525736	76525736	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:76525736C>T	ENST00000389840.5	-	22	3449	c.3325G>A	c.(3325-3327)Ggc>Agc	p.G1109S	DNAH17_ENST00000585328.1_Missense_Mutation_p.G1106S					dynein, axonemal, heavy chain 17									p.G1106C(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTGGTCAAGCCCATTCTGGCG	0.582000													23	13					0	0	0.003330	0	0
IQCH	64799	broad.mit.edu	37	15	67687867	67687867	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:67687867C>T	ENST00000335894.4	+	13	1937	c.1871C>T	c.(1870-1872)cCt>cTt	p.P624L	IQCH_ENST00000546225.1_Intron|IQCH_ENST00000360277.4_Intron|IQCH_ENST00000358767.3_Intron	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	624										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GTGGCAGTTCCTCCTGGAATA	0.423000													19	29					0	0	0.008871	0	0
KSR1	8844	broad.mit.edu	37	17	25950394	25950394	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:25950394G>A	ENST00000578981.1	+	2	294	c.116G>A	c.(115-117)tGg>tAg	p.W39*	AC015688.3_ENST00000584605.1_Nonsense_Mutation_p.W2*|KSR1_ENST00000319524.6_Silent_p.L916L|KSR1_ENST00000268763.6_Silent_p.L779L|KSR1_ENST00000398988.3_3'UTR|KSR1_ENST00000582410.1_3'UTR			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	0					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TGGGCGTCCTGGAGTCCAGTA	0.428000													14	10					0	0	0.006122	0	0
COL4A3	1285	broad.mit.edu	37	2	228157935	228157935	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:228157935G>A	ENST00000396578.3	+	38	3401	c.3239G>A	c.(3238-3240)gGa>gAa	p.G1080E	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1080	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGTGATATGGGAAAGAAAGGA	0.498000													8	18					0	0	0.003080	0	0
DDX60	55601	broad.mit.edu	37	4	169167643	169167643	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:169167643G>A	ENST00000393743.3	-	30	4381	c.4090C>T	c.(4090-4092)Ctc>Ttc	p.L1364F		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1364	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GTTATGCTGAGAGGGAAGTGT	0.488000													24	15					0	0	0.003330	0	0
F3	2152	broad.mit.edu	37	1	94997929	94997929	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:94997929C>T	ENST00000334047.7	-	5	862	c.699G>A	c.(697-699)aaG>aaA	p.K233K	F3_ENST00000370207.4_Intron	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	233					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	TGTCTGTACTCTTCCGGTTAA	0.488000													34	67					0	0	0.003271	0	0
LIN28B	389421	broad.mit.edu	37	6	105406086	105406086	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:105406086G>A	ENST00000345080.4	+	2	326	c.123G>A	c.(121-123)atG>atA	p.M41I		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	41	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				ATGTGCGCATGGGATTTGGAT	0.522000													44	71					0	0	0.009718	0	0
MYO7A	4647	broad.mit.edu	37	11	76909548	76909548	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:76909548C>T	ENST00000409709.3	+	34	4722	c.4450C>T	c.(4450-4452)Ctc>Ttc	p.L1484F	MYO7A_ENST00000409619.2_Missense_Mutation_p.L1473F|MYO7A_ENST00000458637.2_Missense_Mutation_p.L1484F	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1484	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGGCCCCAGTCTCCCCAAGAA	0.592000													5	41					0	0	0.000602	0	0
DSG1	1828	broad.mit.edu	37	18	28934722	28934722	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:28934722G>A	ENST00000257192.4	+	15	2775	c.2563G>A	c.(2563-2565)Gat>Aat	p.D855N	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.D214N|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	855					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GCACGTTCACGATAACCGACC	0.517000													36	77					0	0	0.006230	0	0
MRPL13	28998	broad.mit.edu	37	8	121426320	121426320	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:121426320A>G	ENST00000306185.3	-	6	716	c.425T>C	c.(424-426)gTa>gCa	p.V142A		NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	142					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AAGCTCCTCTACTAAATTCTT	0.303000													16	14					0	0	0.004007	0	0
OSBPL5	114879	broad.mit.edu	37	11	3115047	3115047	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:3115047T>C	ENST00000263650.7	-	16	1897	c.1738A>G	c.(1738-1740)Acc>Gcc	p.T580A	OSBPL5_ENST00000525498.1_Missense_Mutation_p.T491A|OSBPL5_ENST00000542243.1_Missense_Mutation_p.T211A|OSBPL5_ENST00000348039.5_Missense_Mutation_p.T512A|OSBPL5_ENST00000478260.1_Missense_Mutation_p.T34A|OSBPL5_ENST00000389989.3_Missense_Mutation_p.T512A	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	580					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TTGATGCTGGTGCTACCCCCG	0.652000													8	15					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179639836	179639836	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179639836G>A	ENST00000589042.1	-	29	6826	c.6602C>T	c.(6601-6603)cCa>cTa	p.P2201L	TTN_ENST00000460472.2_Missense_Mutation_p.P2155L|TTN_ENST00000360870.5_Missense_Mutation_p.P2201L|TTN_ENST00000359218.5_Missense_Mutation_p.P2155L|TTN_ENST00000342992.6_Missense_Mutation_p.P2201L|TTN_ENST00000342175.6_Missense_Mutation_p.P2155L|TTN_ENST00000591111.1_Missense_Mutation_p.P2201L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1950	Ig-like 11.						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)			TTTGACAAATGGTTCTGAAGT	0.393000													12	31					0	0	0.010729	0	0
MGAM	8972	broad.mit.edu	37	7	141740542	141740542	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:141740542G>A	ENST00000475668.2	+	21	2448	c.2394G>A	c.(2392-2394)agG>agA	p.R798R	MGAM_ENST00000549489.2_Silent_p.R798R			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	798	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGAGATGGAGGAAGCAAAAAG	0.468000													5	22					0	0	0.000602	0	0
PCLO	27445	broad.mit.edu	37	7	82763878	82763878	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82763878C>T	ENST00000423517.2	-	3	3325	c.2988G>A	c.(2986-2988)gtG>gtA	p.V996V	PCLO_ENST00000333891.8_Silent_p.V996V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	942					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.V996V(4)|p.V942V(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTCCTTTTTCACAGGTATAC	0.468000													8	31					0	0	0.006214	0	0
EPS15	2060	broad.mit.edu	37	1	51929354	51929354	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:51929354G>A	ENST00000371733.3	-	7	588	c.492C>T	c.(490-492)atC>atT	p.I164I	EPS15_ENST00000371730.2_Silent_p.I164I	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	164	EF-hand 1.|EH 2.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CTCTTCCAAGGATATCCACAG	0.303000			T	MLL	ALL								7	29					0	0	0.001984	0	0
CEP85L	387119	broad.mit.edu	37	6	118791736	118791736	+	Silent	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:118791736T>C	ENST00000368491.3	-	11	2607	c.1986A>G	c.(1984-1986)gaA>gaG	p.E662E	CEP85L_ENST00000368488.5_Silent_p.E665E	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	662						centrosome											GTACATTTCTTTCTTTCTTTT	0.303000													11	72					0	0	0.002450	0	0
AADACL2	344752	broad.mit.edu	37	3	151475146	151475146	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:151475146G>A	ENST00000356517.3	+	5	1079	c.970G>A	c.(970-972)Gat>Aat	p.D324N	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	324						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GTTGGCCAATGATTCTCAGTT	0.363000													21	69					0	0	0.003954	0	0
CXXC5	51523	broad.mit.edu	37	5	139060274	139060274	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:139060274C>T	ENST00000302517.3	+	2	880	c.166C>T	c.(166-168)Ccc>Tcc	p.P56S	CXXC5_ENST00000511048.1_Missense_Mutation_p.P56S	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	56					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACACCACCCCCCGAGCGTCG	0.642000													9	27					0	0	0.004482	0	0
MET	4233	broad.mit.edu	37	7	116380952	116380952	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:116380952C>A	ENST00000397752.3	+	5	1774	c.1574C>A	c.(1573-1575)tCc>tAc	p.S525Y	MET_ENST00000318493.6_Missense_Mutation_p.S525Y|MET_ENST00000495962.1_3'UTR|MET_ENST00000436117.2_Missense_Mutation_p.S525Y	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	525					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CATTTCCAGTCCTGCAGTCAA	0.517000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				31	100					7.01153e-11	7.67353e-11	0.007291	1	0
RP1	6101	broad.mit.edu	37	8	55541954	55541954	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:55541954C>T	ENST00000220676.1	+	4	5660	c.5512C>T	c.(5512-5514)Cgc>Tgc	p.R1838C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1838					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)			GCTGGATGTTCGCAATGAAAC	0.423000													7	14					0	0	0.001984	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8436279	8436279	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:8436279C>T	ENST00000301455.2	+	6	1083	c.912C>T	c.(910-912)ctC>ctT	p.L304L	ANGPTL4_ENST00000541807.1_Silent_p.L137L|ANGPTL4_ENST00000393962.2_Silent_p.L266L	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	304	Fibrinogen C-terminal.			L -> F (in Ref. 1; AAF62868).	angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						GCCTGCAGCTCACTGCACCCG	0.697000													12	32					0	0	0.013537	0	0
KMT2C	58508	broad.mit.edu	37	7	151884809	151884809	+	Missense_Mutation	SNP	G	G	A	rs149660967		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:151884809G>A	ENST00000355193.2	-	32	5002	c.4784C>T	c.(4783-4785)cCt>cTt	p.P1595L	KMT2C_ENST00000262189.6_Missense_Mutation_p.P1595L					lysine (K)-specific methyltransferase 2C																		CCTGGCATCAGGATAAGAGGA	0.373000													13	30					0	0	0.001855	0	0
CILP2	148113	broad.mit.edu	37	19	19655535	19655535	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:19655535C>T	ENST00000586018.1	+	8	2301	c.2199C>T	c.(2197-2199)ttC>ttT	p.F733F	CILP2_ENST00000291495.4_Silent_p.F727F			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	727						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGCGCCTGTTCAATCTGGACG	0.706000													6	17					0	0	0.001168	0	0
OR2A5	393046	broad.mit.edu	37	7	143747527	143747527	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:143747527C>T	ENST00000408906.2	+	1	67	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCACAGAATTCATTCTCCTGG	0.502000													27	75					0	0	0.007291	0	0
GRM3	2913	broad.mit.edu	37	7	86468417	86468417	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:86468417G>A	ENST00000361669.2	+	4	2686	c.1587G>A	c.(1585-1587)tgG>tgA	p.W529*	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Nonsense_Mutation_p.W121*|GRM3_ENST00000536043.1_Nonsense_Mutation_p.W401*	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	529					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)	TCTGCTGCTGGATTTGCATCC	0.542000													21	60					0	0	0.012319	0	0
CYLC1	1538	broad.mit.edu	37	X	83129566	83129566	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:83129566C>T	ENST00000329312.4	+	4	1887	c.1850C>T	c.(1849-1851)cCa>cTa	p.P617L		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	617	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CCTTCTCTACCATCACCAAAG	0.418000													10	8					0	0	0.001855	0	0
MUC16	94025	broad.mit.edu	37	19	9089446	9089446	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9089446G>A	ENST00000397910.4	-	1	2572	c.2369C>T	c.(2368-2370)tCc>tTc	p.S790F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	790	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						AGTCAGAGGGGAAGTTGCATT	0.507000													72	125					0	0	0.014410	0	0
PHACTR4	65979	broad.mit.edu	37	1	28785614	28785614	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:28785614C>T	ENST00000373839.3	+	3	296	c.35C>T	c.(34-36)aCt>aTt	p.T12I	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.T22I	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	12							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		GACCAGCCCACTACAGAGCCA	0.473000													8	35					0	0	0.003080	0	0
GABRP	2568	broad.mit.edu	37	5	170235728	170235728	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:170235728C>T	ENST00000518525.1	+	9	1268	c.804C>T	c.(802-804)ctC>ctT	p.L268L	GABRP_ENST00000519385.1_Silent_p.L268L|GABRP_ENST00000519598.1_Silent_p.L268L|GABRP_ENST00000265294.4_Silent_p.L268L			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	268						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGATCTCTCTCGATTCAGTCC	0.423000													4	34					0	0	0.009096	0	0
LRP1B	53353	broad.mit.edu	37	2	140990791	140990791	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:140990791C>T	ENST00000389484.3	-	91	14735	c.13764G>A	c.(13762-13764)aaG>aaA	p.K4588K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4588					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)		TTTCTATTTTCTTTGGAAGCA	0.318000										TSP Lung(27;0.18)			18	11					0	0	0.006122	0	0
MYO5B	4645	broad.mit.edu	37	18	47563306	47563306	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:47563306G>A	ENST00000285039.7	-	4	668	c.369C>T	c.(367-369)gtC>gtT	p.V123V		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	123	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGGTATAGATGACATCTTGTC	0.473000													17	30					0	0	0.004007	0	0
PTPRD	5789	broad.mit.edu	37	9	8331682	8331682	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:8331682C>T	ENST00000381196.4	-	41	5977	c.5434G>A	c.(5434-5436)Gga>Aga	p.G1812R	PTPRD_ENST00000358503.5_Missense_Mutation_p.G1790R|PTPRD_ENST00000486161.1_Missense_Mutation_p.G1405R|PTPRD_ENST00000356435.5_Missense_Mutation_p.G1812R|PTPRD_ENST00000397617.3_Missense_Mutation_p.G1405R|PTPRD_ENST00000397606.3_Missense_Mutation_p.G1405R|PTPRD_ENST00000397611.3_Missense_Mutation_p.G1402R|PTPRD_ENST00000355233.5_Missense_Mutation_p.G1406R|PTPRD_ENST00000537002.1_Missense_Mutation_p.G1402R|PTPRD_ENST00000540109.1_Missense_Mutation_p.G1812R|PTPRD_ENST00000360074.4_Missense_Mutation_p.G1799R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1812	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTTGGCACTCCTTGCTCTGGC	0.512000										TSP Lung(15;0.13)			14	69					0	0	0.004007	0	0
PCDH12	51294	broad.mit.edu	37	5	141336751	141336751	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:141336751G>A	ENST00000231484.3	-	1	1876	c.666C>T	c.(664-666)ccC>ccT	p.P222P		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	222	Cadherin 2.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACTTGGGGGGGTTCCCAT	0.478000													19	54					0	0	0.008871	0	0
IGKV2-30	28919	broad.mit.edu	37	2	89544305	89544305	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:89544305C>T	ENST00000468494.1	-	0	348																											ACCCCAACATCCTCAGCCTCC	0.537000													11	67					0	0	0.002450	0	0
RASL12	51285	broad.mit.edu	37	15	65347594	65347594	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:65347594C>T	ENST00000220062.4	-	5	720	c.444G>A	c.(442-444)gaG>gaA	p.E148E	RASL12_ENST00000434605.2_Silent_p.E137E|RASL12_ENST00000421977.3_Silent_p.E129E	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	148					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						AAGCCACACCCTCTGCCTTGG	0.602000													3	6					0	0	0.004672	0	0
EFCAB13	124989	broad.mit.edu	37	17	45422425	45422425	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:45422425G>A	ENST00000331493.2	+	8	889	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	EFCAB13_ENST00000517484.1_Missense_Mutation_p.E160K	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		ATTATATGATGAAGTAACCCA	0.318000													71	49					0	0	0.014410	0	0
NLRP10	338322	broad.mit.edu	37	11	7981506	7981506	+	Silent	SNP	C	C	T	rs144039243		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:7981506C>T	ENST00000328600.2	-	2	1814	c.1653G>A	c.(1651-1653)caG>caA	p.Q551Q		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	551							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAGATTCCATCTGTTCTTTAA	0.393000													13	35					0	0	0.013537	0	0
SLC28A2	9153	broad.mit.edu	37	15	45555390	45555390	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:45555390A>C	ENST00000347644.3	+	5	459	c.394A>C	c.(394-396)Aca>Cca	p.T132P	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	132					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		CAAAAAATTAACAAGATGTCT	0.463000													4	24					0	0	0.000602	0	0
SMOC1	64093	broad.mit.edu	37	14	70461189	70461189	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:70461189G>A	ENST00000381280.4	+	7	909	c.656G>A	c.(655-657)aGa>aAa	p.R219K	SMOC1_ENST00000361956.3_Missense_Mutation_p.R219K	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	219					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		ACCAACATAAGAAATTCAGGT	0.413000													63	74					0	0	0.014410	0	0
FMO2	2327	broad.mit.edu	37	1	171168536	171168536	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:171168536C>T	ENST00000441535.1	+	5	653	c.536C>T	c.(535-537)cCa>cTa	p.P179L	RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|RP1-45C12.1_ENST00000455124.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.P179L|FMO2_ENST00000529935.1_Intron	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	179					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TACAAGCATCCAGATGGATTT	0.478000													30	52					0	0	0.013726	0	0
GZMA	3001	broad.mit.edu	37	5	54404085	54404085	+	Missense_Mutation	SNP	G	G	A	rs149445760	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:54404085G>A	ENST00000274306.6	+	4	525	c.490G>A	c.(490-492)Gat>Aat	p.D164N		NM_006144.3	NP_006135.1	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	164	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity	p.D164N(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				ATCTTGGTCCGATACTCTGAG	0.428000													5	28					0	0	0.001984	0	0
GINS2	51659	broad.mit.edu	37	16	85721180	85721180	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:85721180C>T	ENST00000253462.3	-	2	191	c.90_splice	c.e2-1	p.G31_splice		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	31					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)	6						CCCAGGTCCCCCTGCCAAAAG	0.478000													10	36					0	0	0.006214	0	0
POM121L12	285877	broad.mit.edu	37	7	53103609	53103609	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:53103609C>T	ENST00000408890.4	+	1	261	c.245C>T	c.(244-246)cCc>cTc	p.P82L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	82										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GAGGTGCGGCCCACCCAGGAC	0.711000													14	27					0	0	0.004007	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011256	105011256	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:105011256G>A	ENST00000372582.1	+	11	2419	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K	IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.E160K|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.E555K	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	555	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTTAGTATATGAAATGCCCAT	0.423000													47	28					0	0	0.014410	0	0
OR5K2	402135	broad.mit.edu	37	3	98217208	98217208	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:98217208G>A	ENST00000427338.1	+	1	761	c.684G>A	c.(682-684)atG>atA	p.M228I	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTTTCAGAATGAAATCCAAGG	0.343000													19	32					0	0	0.007413	0	0
TACR3	6870	broad.mit.edu	37	4	104510994	104510994	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:104510994G>A	ENST00000304883.2	-	5	1383	c.1243C>T	c.(1243-1245)Ccc>Tcc	p.P415S	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	415						integral to plasma membrane	tachykinin receptor activity	p.P415A(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GCATCGTTGGGGTCAAACACG	0.512000													25	112					0	0	0.006320	0	0
CACNA1B	774	broad.mit.edu	37	9	141010047	141010047	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:141010047A>G	ENST00000277549.5	+	42	5844	c.3275A>G	c.(3274-3276)gAg>gGg	p.E1092G	CACNA1B_ENST00000371372.1_Missense_Mutation_p.E1898G|CACNA1B_ENST00000371357.1_Missense_Mutation_p.E1897G|CACNA1B_ENST00000277551.2_Missense_Mutation_p.E1898G|CACNA1B_ENST00000371363.1_Missense_Mutation_p.E1896G|CACNA1B_ENST00000371355.4_Missense_Mutation_p.E1899G			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1898					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GCCACCCTGGAGCAGACACAG	0.597000													12	110					0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179428325	179428325	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179428325C>T	ENST00000589042.1	-	326	82758	c.82534G>A	c.(82534-82536)Gaa>Aaa	p.E27512K	TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E18447K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18572K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24944K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E18639K|TTN_ENST00000591111.1_Missense_Mutation_p.E25871K|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25871	Fibronectin type-III 100.						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)			CTAACGCCTTCCTTATCTCGT	0.468000													37	80					0	0	0.003755	0	0
PTCD1	26024	broad.mit.edu	37	7	99022765	99022765	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:99022765G>A	ENST00000292478.4	-	6	1640	c.1390C>T	c.(1390-1392)Cgg>Tgg	p.R464W	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.R513W|PTCD1_ENST00000555673.1_Missense_Mutation_p.R513W	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AAGGCCAGCCGGTCAGCTGGG	0.652000													11	31					0	0	0.010729	0	0
PARD3B	117583	broad.mit.edu	37	2	206165305	206165305	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:206165305C>T	ENST00000406610.2	+	17	2444	c.2237C>T	c.(2236-2238)tCc>tTc	p.S746F	PARD3B_ENST00000349953.3_Missense_Mutation_p.S746F|PARD3B_ENST00000462231.1_Missense_Mutation_p.S746F|PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000358768.2_Missense_Mutation_p.S684F	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	746					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AAGTCCAGCTCCTTGGAGAGT	0.537000													21	76					0	0	0.010504	0	0
AXL	558	broad.mit.edu	37	19	41743986	41743986	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:41743986C>T	ENST00000301178.4	+	7	1111	c.921C>T	c.(919-921)atC>atT	p.I307I	AXL_ENST00000359092.3_Silent_p.I307I|AXL_ENST00000593513.1_Silent_p.I39I	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	307	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CTTATCACATCCGCGTGGCAT	0.652000													49	88					0	0	0.014410	0	0
ITGA4	3676	broad.mit.edu	37	2	182390014	182390014	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:182390014C>T	ENST00000397033.2	+	21	2765	c.2335C>T	c.(2335-2337)Cat>Tat	p.H779Y		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	779					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GCTGACTGTTCATGGGTAAGT	0.323000													5	16					0	0	0.000602	0	0
LILRP2	79166	broad.mit.edu	37	19	55221680	55221680	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55221680G>A	ENST00000413439.1	+	0	1415																											GCTCCGCACAGGCCCTGCTGG	0.672000													6	12					0	0	0.001168	0	0
HRASLS2	54979	broad.mit.edu	37	11	63326003	63326003	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:63326003C>T	ENST00000255695.1	-	3	306	c.248G>A	c.(247-249)aGa>aAa	p.R83K		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	83					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						TGGTGTGTATCTGTCATCGTG	0.532000													20	67					0	0	0.014323	0	0
LY9	4063	broad.mit.edu	37	1	160793421	160793421	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:160793421C>T	ENST00000263285.5	+	8	1695	c.1665C>T	c.(1663-1665)ccC>ccT	p.P555P	LY9_ENST00000341032.4_Silent_p.P421P|LY9_ENST00000368035.1_Silent_p.P193P|LY9_ENST00000368041.2_Silent_p.P425P|LY9_ENST00000368040.1_Silent_p.P193P	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	555					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGCACAAGCCCATCAGTGGAA	0.577000													36	67					0	0	0.003755	0	0
PACSIN1	29993	broad.mit.edu	37	6	34496573	34496573	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:34496573C>T	ENST00000538621.1	+	4	620	c.375C>T	c.(373-375)atC>atT	p.I125I	PACSIN1_ENST00000374043.2_Silent_p.I83I|PACSIN1_ENST00000486120.1_3'UTR|PACSIN1_ENST00000244458.2_Silent_p.I125I	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	125					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						ACAAGCAGATCATGGGTGGCT	0.557000													25	65					0	0	0.009535	0	0
SULF2	55959	broad.mit.edu	37	20	46365604	46365604	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:46365604G>A	ENST00000359930.4	-	3	1109	c.258C>T	c.(256-258)ccC>ccT	p.P86P	SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000467815.1_Silent_p.P86P|SULF2_ENST00000361612.4_Silent_p.P86P|SULF2_ENST00000484875.1_Silent_p.P86P	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	86					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GGCAGCACATGGGTGTGGTCA	0.592000													5	41					0	0	0.000602	0	0
TAP1	6890	broad.mit.edu	37	6	32815321	32815321	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:32815321G>A	ENST00000354258.4	-	9	2213	c.2052C>T	c.(2050-2052)ttC>ttT	p.F684F	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Silent_p.F423F	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	684	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						GTCCAGAGATGAAACTATGGG	0.488000													9	67					0	0	0.006214	0	0
EIF2B4	8890	broad.mit.edu	37	2	27591996	27591996	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:27591996C>T	ENST00000493344.2	-	3	670	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	EIF2B4_ENST00000451130.2_Missense_Mutation_p.E119K|EIF2B4_ENST00000347454.4_Missense_Mutation_p.E99K|EIF2B4_ENST00000445933.2_Missense_Mutation_p.E98K			Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	99					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCGAAGTTCGGCCTTACTC	0.572000													36	51					0	0	0.006230	0	0
DAB2IP	153090	broad.mit.edu	37	9	124535061	124535061	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:124535061C>T	ENST00000408936.3	+	12	2436	c.2254C>T	c.(2254-2256)Cag>Tag	p.Q752*	DAB2IP_ENST00000259371.2_Nonsense_Mutation_p.Q724*|DAB2IP_ENST00000309989.1_Nonsense_Mutation_p.Q628*			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	752					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GGTGGACCTCCAGGACGCCCG	0.692000													8	14					0	0	0.003080	0	0
LEMD1	93273	broad.mit.edu	37	1	205389633	205389633	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:205389633T>A	ENST00000367153.4	-	2	134	c.32A>T	c.(31-33)aAa>aTa	p.K11I	LEMD1_ENST00000476884.1_5'UTR|LEMD1_ENST00000391936.2_Missense_Mutation_p.K11I|LEMD1_ENST00000367154.1_Missense_Mutation_p.K11I|LEMD1_ENST00000367151.2_Missense_Mutation_p.K11I|LEMD1_ENST00000367149.3_Missense_Mutation_p.K11I|LEMD1_ENST00000367152.1_Missense_Mutation_p.K11I	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	LEM domain containing 1	11	LEM.					integral to membrane|nuclear envelope				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			GTTCTGCAATTTACAGTCACT	0.358000													25	36					0	0	0.004656	0	0
SPAM1	6677	broad.mit.edu	37	7	123594435	123594435	+	Missense_Mutation	SNP	C	C	T	rs141109529		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:123594435C>T	ENST00000340011.5	+	3	1168	c.811C>T	c.(811-813)Cct>Tct	p.P271S	SPAM1_ENST00000223028.7_Missense_Mutation_p.P271S|SPAM1_ENST00000460182.1_Missense_Mutation_p.P271S|SPAM1_ENST00000402183.2_Missense_Mutation_p.P271S|SPAM1_ENST00000439500.1_Missense_Mutation_p.P271S	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	271					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TCAGCAGTCTCCTGTAGCTGC	0.413000													23	47					0	0	0.004656	0	0
ARID5A	10865	broad.mit.edu	37	2	97216893	97216893	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:97216893G>T	ENST00000454558.2	+	7	1601	c.424G>T	c.(424-426)Gag>Tag	p.E142*	ARID5A_ENST00000357485.3_Nonsense_Mutation_p.E210*			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	210	ARID.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						TCCCAGCCAGGAGCCCCCCAG	0.602000													9	66					0.00621372	0.00671005	0.006214	1	0
PYGO2	90780	broad.mit.edu	37	1	154931774	154931774	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:154931774G>A	ENST00000368457.2	-	3	873	c.702C>T	c.(700-702)ctC>ctT	p.L234L	PYGO2_ENST00000368456.1_Silent_p.L197L	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	234	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCAGGCTGGGGAGCCCCTGAC	0.627000													13	31					0	0	0.002450	0	0
NEK10	152110	broad.mit.edu	37	3	27216271	27216271	+	Silent	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:27216271C>A	ENST00000429845.2	-	28	2921	c.2559G>T	c.(2557-2559)ctG>ctT	p.L853L	NEK10_ENST00000383770.3_Silent_p.L165L|NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000357467.2_Silent_p.L250L|NEK10_ENST00000295720.6_Silent_p.L165L|NEK10_ENST00000383771.4_Silent_p.L165L			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	853							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GTTCACTTTTCAGGCTGGCTG	0.498000													50	114					8.44121e-28	9.277e-28	0.014410	1	0
IL1RAP	3556	broad.mit.edu	37	3	190366453	190366453	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:190366453G>A	ENST00000412504.2	+	11	1924	c.1672G>A	c.(1672-1674)Gat>Aat	p.D558N	IL1RAP_ENST00000072516.3_Missense_Mutation_p.D558N|IL1RAP_ENST00000317757.3_Intron|IL1RAP_ENST00000447382.1_Missense_Mutation_p.D558N|IL1RAP_ENST00000443369.2_Intron|IL1RAP_ENST00000439062.1_Missense_Mutation_p.D558N			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	558					inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GTCTAGCAGTGATGAGCAGGG	0.478000													4	32					0	0	0.009096	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101755635	101755635	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:101755635C>T	ENST00000506729.1	-	8	1538	c.1367G>A	c.(1366-1368)aGa>aAa	p.R456K	SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R394K|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R456K|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000513675.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	456						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)		CATTATAAATCTCATAAGGGC	0.358000													13	66					0	0	0.013537	0	0
SIRPG	55423	broad.mit.edu	37	20	1630007	1630007	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:1630007G>A	ENST00000381580.1	-	2	201	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	SIRPG_ENST00000344103.4_Silent_p.L41L|SIRPG_ENST00000216927.4_Silent_p.L41L|SIRPG_ENST00000303415.3_Silent_p.L41L|SIRPG_ENST00000381583.2_Silent_p.L41L			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	41					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GTGACCAACAGGAGCTTCTCA	0.512000													13	40					0	0	0.013537	0	0
KLHL32	114792	broad.mit.edu	37	6	97562297	97562297	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:97562297G>A	ENST00000369261.4	+	7	1629	c.1266G>A	c.(1264-1266)aaG>aaA	p.K422K	KLHL32_ENST00000536676.1_Silent_p.K386K|KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000539200.1_Silent_p.K353K	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	422										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		ATTGCCCCAAGAAGAACAAAT	0.473000													11	48					0	0	0.010729	0	0
PSG2	5670	broad.mit.edu	37	19	43576076	43576076	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:43576076G>A	ENST00000406487.1	-	4	838	c.740C>T	c.(739-741)tCa>tTa	p.S247L		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	247	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				ATTGGTGTATGAAGGGTGAAT	0.483000													18	115					0	0	0.008871	0	0
GBP1	2633	broad.mit.edu	37	1	89520430	89520430	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:89520430T>G	ENST00000370473.4	-	10	1819	c.1600A>C	c.(1600-1602)Aag>Cag	p.K534Q	GBP1_ENST00000484970.1_5'UTR	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	534					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TTCTCCATCTTCTCAGTCAGT	0.433000													155	254					0	0	0.014410	0	0
SGSM1	129049	broad.mit.edu	37	22	25270515	25270515	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:25270515C>T	ENST00000400359.4	+	13	1432	c.1425C>T	c.(1423-1425)ctC>ctT	p.L475L	SGSM1_ENST00000400358.4_Intron	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	475						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ACACTACTCTCCCCACGCCAA	0.637000													6	10					0	0	0.001168	0	0
LILRB2	10288	broad.mit.edu	37	19	54783313	54783313	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:54783313G>A	ENST00000391748.1	-	5	672	c.545C>T	c.(544-546)tCc>tTc	p.S182F	LILRB2_ENST00000314446.5_Missense_Mutation_p.S182F|LILRB2_ENST00000391746.1_Missense_Mutation_p.S182F|LILRB2_ENST00000391749.4_Missense_Mutation_p.S182F|LILRB2_ENST00000434421.1_Missense_Mutation_p.S66F	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	182	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGCCCACGGAGAAGATGGC	0.577000													25	42					0	0	0.005443	0	0
TLL1	7092	broad.mit.edu	37	4	166946575	166946575	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:166946575G>A	ENST00000061240.2	+	9	1797	c.1150G>A	c.(1150-1152)Ggg>Agg	p.G384R	TLL1_ENST00000507499.1_Missense_Mutation_p.G384R|TLL1_ENST00000513213.1_Missense_Mutation_p.G384R	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	384	CUB 1.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			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)		TGTGACCCCAGGGGAGAAGGT	0.388000													27	20					0	0	0.006320	0	0
TMEM163	81615	broad.mit.edu	37	2	135260567	135260567	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:135260567C>T	ENST00000281924.6	-	5	524	c.458_splice	c.e5-1	p.A154_splice		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	154						integral to membrane				endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		ATGACACAGGCTCTGCAAAAA	0.443000													7	8					0	0	0.001984	0	0
ZRANB3	84083	broad.mit.edu	37	2	136023176	136023176	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:136023176G>A	ENST00000401392.1	-	12	1679	c.1467C>T	c.(1465-1467)ttC>ttT	p.F489F	ZRANB3_ENST00000536680.1_Silent_p.F489F|ZRANB3_ENST00000264159.6_Silent_p.F489F			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	489						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		CAAACTGCAGGAAATCCCATT	0.403000													10	10					0	0	0.008291	0	0
ROS1	6098	broad.mit.edu	37	6	117708143	117708143	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:117708143G>A	ENST00000368508.3	-	14	2232	c.2034C>T	c.(2032-2034)atC>atT	p.I678I	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.I673I	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	678					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)		TCACAGCCATGATAAATGGTG	0.363000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								6	57					0	0	0.001168	0	0
MAGEB6	158809	broad.mit.edu	37	X	26213001	26213001	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:26213001G>A	ENST00000379034.1	+	2	1187	c.1038G>A	c.(1036-1038)caG>caA	p.Q346Q		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	346	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TTTACCGGCAGGTGTGCAACA	0.493000													42	17					0	0	0.014410	0	0
ASAP2	8853	broad.mit.edu	37	2	9517083	9517083	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:9517083G>T	ENST00000281419.3	+	18	2133	c.1793G>T	c.(1792-1794)cGa>cTa	p.R598L	ASAP2_ENST00000315273.4_Missense_Mutation_p.R598L	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	598					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TCCGTGGATCGAACCTCTCTT	0.448000													18	124					2.44723e-14	2.68219e-14	0.004656	1	0
CYP4F22	126410	broad.mit.edu	37	19	15654785	15654785	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15654785G>A	ENST00000269703.2	+	9	1142	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	CYP4F22_ENST00000601005.2_Missense_Mutation_p.E315K	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	315						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						ATTCCAGGATGAAGATGGAAA	0.562000													14	28					0	0	0.004007	0	0
RSPRY1	89970	broad.mit.edu	37	16	57254647	57254647	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:57254647T>C	ENST00000537866.1	+	9	1778	c.905T>C	c.(904-906)tTa>tCa	p.L302S	RSPRY1_ENST00000394420.4_Missense_Mutation_p.L302S			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	302	B30.2/SPRY.					extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TTTGCAGTTTTAAAAGAAGGT	0.428000													7	26					0	0	0.001984	0	0
CHRD	8646	broad.mit.edu	37	3	184106376	184106376	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:184106376G>A	ENST00000204604.1	+	21	2802	c.2554_splice	c.e21-1	p.V852_splice	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Splice_Site_p.V812_splice|CHRD_ENST00000450923.1_Splice_Site_p.V852_splice|CHRD_ENST00000545352.1_Splice_Site_p.V394_splice	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	852					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTCAACAGTGGGGTCGGGGG	0.587000													32	97					0	0	0.009718	0	0
COL21A1	81578	broad.mit.edu	37	6	56035641	56035641	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:56035641G>A	ENST00000244728.5	-	5	1229	c.832C>T	c.(832-834)Cct>Tct	p.P278S	COL21A1_ENST00000370819.1_Missense_Mutation_p.P278S|COL21A1_ENST00000535941.1_Missense_Mutation_p.P278S	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	278	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TATGATGGAGGAAGACCTTCT	0.358000													6	24					0	0	0.001168	0	0
NEB	4703	broad.mit.edu	37	2	152553214	152553214	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:152553214G>A	ENST00000397345.3	-	17	1708	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F	NEB_ENST00000172853.10_Silent_p.F502F|NEB_ENST00000603639.1_Silent_p.F502F|NEB_ENST00000427231.2_Silent_p.F502F|NEB_ENST00000604864.1_Silent_p.F502F|NEB_ENST00000409198.1_Silent_p.F502F	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	502					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAACTTGGGTGAATTTTGTCT	0.458000													5	36					0	0	0.000602	0	0
HUNK	30811	broad.mit.edu	37	21	33371477	33371477	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:33371477G>A	ENST00000270112.2	+	11	2485	c.2125G>A	c.(2125-2127)Ggg>Agg	p.G709R		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	709					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CATGGCCGATGGGGTCAAGAC	0.587000													17	28					0	0	0.007413	0	0
TRIM71	131405	broad.mit.edu	37	3	32927435	32927435	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:32927435G>A	ENST00000383763.4	+	3	1093	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	344					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTGAGCATCGAGCAGGCCCA	0.498000													29	33					0	0	0.003755	0	0
CEL	1056	broad.mit.edu	37	9	135946024	135946024	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:135946024G>A	ENST00000372080.4	+	10	1488	c.1472G>A	c.(1471-1473)tGg>tAg	p.W491*	CEL_ENST00000351304.7_Intron	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	488					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		ATCGCCTACTGGACCAACTTT	0.592000													144	220					0	0	0.014410	0	0
SLC44A5	204962	broad.mit.edu	37	1	75688085	75688085	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:75688085C>T	ENST00000370855.5	-	14	1159	c.1046G>A	c.(1045-1047)cGa>cAa	p.R349Q	SLC44A5_ENST00000535611.1_Missense_Mutation_p.R219Q|SLC44A5_ENST00000370859.3_Missense_Mutation_p.R349Q	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	349						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						GACTCGGATTCGATTCCTGAG	0.393000													15	40					0	0	0.004007	0	0
PEAR1	375033	broad.mit.edu	37	1	156878059	156878059	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:156878059C>T	ENST00000338302.3	+	10	1267	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C	PEAR1_ENST00000292357.7_Missense_Mutation_p.R348C			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	348						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGCACGGATCGCCTCTGCCC	0.692000													10	6					0	0	0.008291	0	0
KALRN	8997	broad.mit.edu	37	3	124181432	124181432	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:124181432A>T	ENST00000360013.3	+	25	4104	c.3977A>T	c.(3976-3978)gAg>gTg	p.E1326V	KALRN_ENST00000460856.1_Missense_Mutation_p.E1317V|KALRN_ENST00000240874.3_Missense_Mutation_p.E1326V	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1326	DH 1.		E -> D (in dbSNP:rs2289838).		apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTCAATAAAGAGCATATCATC	0.478000													10	23					0	0	0.010729	0	0
NLRP9	338321	broad.mit.edu	37	19	56223927	56223927	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:56223927G>A	ENST00000332836.2	-	7	2558	c.2531C>T	c.(2530-2532)tCc>tTc	p.S844F		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	844						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GTCCTTACAGGAATCGGAAGT	0.428000													7	39					0	0	0.008291	0	0
MICAL1	64780	broad.mit.edu	37	6	109769147	109769147	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:109769147G>A	ENST00000368952.4	-	14	2222	c.1932C>T	c.(1930-1932)tcC>tcT	p.S644S	MICAL1_ENST00000358807.3_Silent_p.S625S|MICAL1_ENST00000358577.3_Silent_p.S539S			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	625					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AGGTCCCTGGGGAGGCCTGGC	0.592000													10	38					0	0	0.010729	0	0
FAM46D	169966	broad.mit.edu	37	X	79698902	79698902	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:79698902C>T	ENST00000538312.1	+	5	1198	c.864C>T	c.(862-864)ttC>ttT	p.F288F	FAM46D_ENST00000308293.5_Silent_p.F288F	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	288										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						ACAACCATTTCATAGGTGAAG	0.358000													26	10					0	0	0.003954	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113328	117113328	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:117113328G>A	ENST00000310357.3	-	6	2779	c.2758C>T	c.(2758-2760)Cga>Tga	p.R920*	GPRC6A_ENST00000368549.3_Nonsense_Mutation_p.R849*|GPRC6A_ENST00000530250.1_Nonsense_Mutation_p.R745*	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	920					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATTCTTTTTCGAGGCAAAGTT	0.388000													27	109					0	0	0.009535	0	0
TRANK1	9881	broad.mit.edu	37	3	36880169	36880169	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:36880169C>T	ENST00000429976.2	-	18	5434	c.5187G>A	c.(5185-5187)gaG>gaA	p.E1729E	TRANK1_ENST00000428977.2_Silent_p.E1179E|TRANK1_ENST00000301807.6_Silent_p.E1179E			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1729					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACTTCTCCTTCTCAAATGCAC	0.483000													7	19					0	0	0.006214	0	0
ZMYND8	23613	broad.mit.edu	37	20	45927583	45927583	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:45927583G>A	ENST00000311275.7	-	4	536	c.283C>T	c.(283-285)Cac>Tac	p.H95Y	ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000536340.1_Missense_Mutation_p.H122Y|ZMYND8_ENST00000396281.4_Missense_Mutation_p.H95Y|ZMYND8_ENST00000461685.1_Missense_Mutation_p.H115Y|ZMYND8_ENST00000360911.3_Missense_Mutation_p.H90Y|ZMYND8_ENST00000355972.4_Missense_Mutation_p.H95Y|ZMYND8_ENST00000352431.2_Missense_Mutation_p.H115Y|ZMYND8_ENST00000262975.4_Missense_Mutation_p.H95Y|ZMYND8_ENST00000372023.3_Missense_Mutation_p.H90Y|ZMYND8_ENST00000458360.2_Missense_Mutation_p.H90Y|ZMYND8_ENST00000446994.2_Missense_Mutation_p.H70Y|ZMYND8_ENST00000471951.2_Missense_Mutation_p.H115Y|ZMYND8_ENST00000540497.1_Missense_Mutation_p.H90Y			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	95							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CCTTCCCGGTGACAAACCCAG	0.517000													16	49					0	0	0.004990	0	0
HNF4A	3172	broad.mit.edu	37	20	43030112	43030112	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:43030112T>A	ENST00000316099.3	+	1	189	c.100T>A	c.(100-102)Ttg>Atg	p.L34M	HNF4A_ENST00000443598.2_Missense_Mutation_p.L34M|HNF4A_ENST00000457232.1_Intron|HNF4A_ENST00000415691.1_Missense_Mutation_p.L34M	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	34					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGTGCAGGTGTTGACGATGGG	0.577000													42	184					0	0	0.014410	0	0
TYR	7299	broad.mit.edu	37	11	88961003	88961003	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:88961003C>T	ENST00000263321.5	+	3	1551	c.1049C>T	c.(1048-1050)cCa>cTa	p.P350L		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	350					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TTTGCTAGTCCACTTACTGGG	0.363000													11	24					0	0	0.001855	0	0
SYT4	6860	broad.mit.edu	37	18	40853803	40853803	+	Silent	SNP	C	C	T	rs150432952		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:40853803C>T	ENST00000255224.3	-	2	959	c.591G>A	c.(589-591)acG>acA	p.T197T	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.T179T	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	197	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	p.T197T(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CTGGGAGGATCGTCATTTTGA	0.443000													7	55					0	0	0.001984	0	0
ARFGAP1	55738	broad.mit.edu	37	20	61908621	61908621	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:61908621C>T	ENST00000370275.4	+	5	499	c.407C>T	c.(406-408)cCa>cTa	p.P136L	ARFGAP1_ENST00000353546.3_Missense_Mutation_p.P136L|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.P62L|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.P83L|ARFGAP1_ENST00000370283.4_Missense_Mutation_p.P136L|ARFGAP1_ENST00000519273.2_Intron			Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	136					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					AACTGGACCCCACCTCAGCCC	0.582000													6	26					0	0	0.001168	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530066	140530066	+	Silent	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140530066T>C	ENST00000231136.1	+	1	228	c.228T>C	c.(226-228)ttT>ttC	p.F76F	PCDHB6_ENST00000543635.1_Intron	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		76	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTTGCAGTTTGATCCACAGA	0.532000													22	61					0	0	0.010504	0	0
HID1	283987	broad.mit.edu	37	17	72954523	72954523	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:72954523C>T	ENST00000425042.2	-	11	1368	c.1291G>A	c.(1291-1293)Ggg>Agg	p.G431R		NM_030630.2	NP_085133.1			HID1 domain containing																		TTCCGCTCCCCGCTCAGAAGC	0.632000											OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	6					0	0	0.004672	0	0
INTS4	92105	broad.mit.edu	37	11	77594888	77594888	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:77594888G>A	ENST00000534064.1	-	22	2737	c.2703C>T	c.(2701-2703)acC>acT	p.T901T	AAMDC_ENST00000304716.8_Intron|AAMDC_ENST00000532481.1_Intron|AAMDC_ENST00000527134.1_Intron|INTS4_ENST00000535943.1_Silent_p.T276T	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	901				HT -> PP (in Ref. 1; AAQ13616).	snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CTGTCCAAGCGGTGTGGGAGA	0.527000													8	8					0	0	0.004482	0	0
CFAP221	200373	broad.mit.edu	37	2	120373202	120373202	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:120373202C>T	ENST00000602047.1	+	15	1581	c.469C>T	c.(469-471)Cat>Tat	p.H157Y	PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000413369.3_Missense_Mutation_p.H443Y			Q4G0U5	PCDP1_HUMAN		443						cilium	calmodulin binding					Colorectal(110;0.196)					CAAGGAATTTCATCCTACTTT	0.348000													5	10					0	0	0.000602	0	0
SMR3A	26952	broad.mit.edu	37	4	71232443	71232443	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:71232443G>A	ENST00000226460.4	+	3	233	c.137G>A	c.(136-138)gGa>gAa	p.G46E		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	46	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TTTCCTTTTGGAACAGGATTT	0.552000													15	22					0	0	0.006122	0	0
GLB1L2	89944	broad.mit.edu	37	11	134240215	134240215	+	Silent	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:134240215T>A	ENST00000535456.2	+	12	1325	c.1137T>A	c.(1135-1137)ctT>ctA	p.L379L	GLB1L2_ENST00000389881.3_Silent_p.L379L|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Silent_p.L379L	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	379					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CACCTGACCTTCTTCCCAAGA	0.602000													5	86					0	0	0.004482	0	0
DMWD	1762	broad.mit.edu	37	19	46288921	46288921	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:46288921G>A	ENST00000593999.1	-	1	310	c.311C>T	c.(310-312)tCc>tTc	p.S104F	DMWD_ENST00000270223.6_Silent_p.F611F|DMWD_ENST00000377735.3_Silent_p.F611F																							AGTCCTCCAGGAACAGGAGGA	0.687000													11	14					0	0	0.001855	0	0
NKAP	79576	broad.mit.edu	37	X	119068457	119068457	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:119068457G>A	ENST00000371410.3	-	5	903	c.737_splice	c.e5+1	p.S246_splice	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	246	Lys-rich.|Necessary for interaction with CIR1.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						AAAAACTGACGATCTGTGTTT	0.289000													15	4					0	0	0.002450	0	0
SH2D3C	10044	broad.mit.edu	37	9	130502567	130502567	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:130502567G>A	ENST00000314830.8	-	10	2283	c.2170C>T	c.(2170-2172)Cct>Tct	p.P724S	SH2D3C_ENST00000373277.4_Missense_Mutation_p.P567S|SH2D3C_ENST00000373276.3_Missense_Mutation_p.P656S|SH2D3C_ENST00000420366.1_Missense_Mutation_p.P566S|SH2D3C_ENST00000429553.1_Missense_Mutation_p.P370S|SH2D3C_ENST00000373274.3_Missense_Mutation_p.P564S	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	724	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTGAGAAAAGGCTTGAGCTTC	0.577000													7	47					0	0	0.003080	0	0
VPS45	11311	broad.mit.edu	37	1	150116887	150116887	+	Splice_Site	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:150116887T>C	ENST00000369130.3	+	15	2172	c.1625_splice	c.e15-1	p.S542_splice	VPS45_ENST00000535106.1_3'UTR|VPS45_ENST00000484306.1_3'UTR|VPS45_ENST00000369128.5_Splice_Site_p.F469_splice	NM_007259.3	NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	542					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TACTTATCAGTTTCCTAGAGG	0.428000													16	39					0	0	0.004007	0	0
OR4X2	119764	broad.mit.edu	37	11	48267543	48267543	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:48267543G>A	ENST00000302329.3	+	1	936	c.888G>A	c.(886-888)agG>agA	p.R296R		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGTGGATTAGGACATTGAGAC	0.433000													16	49					0	0	0.007413	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76075183	76075183	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:76075183C>T	ENST00000395215.3	+	0	823																											CCCCGGCACCCCCAGCAGTGA	0.557000													10	7					0	0	0.006214	0	0
IL1B	3553	broad.mit.edu	37	2	113588928	113588928	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:113588928C>T	ENST00000263341.2	-	6	748	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	180					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	p.E180K(1)		breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	AGATTCTTTTCCTTGAGGCCC	0.468000													41	78					0	0	0.011902	0	0
MAGEC3	139081	broad.mit.edu	37	X	140984593	140984593	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:140984593C>T	ENST00000544766.1	+	5	682	c.155C>T	c.(154-156)cCc>cTc	p.P52L	MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000536088.1_Missense_Mutation_p.P52L|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000409007.1_Missense_Mutation_p.P52L|MAGEC3_ENST00000443323.2_Intron	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	446										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					tttttattcccctcctcctct	0.522000													10	2					0	0	0.006214	0	0
ADRA1B	147	broad.mit.edu	37	5	159344660	159344660	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:159344660G>A	ENST00000306675.3	+	1	871	c.748G>A	c.(748-750)Gag>Aag	p.E250K		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	250					cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	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)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	CAACTCCAAGGAGCTGACCCT	0.517000													8	38					0	0	0.004482	0	0
GTF2IRD2	84163	broad.mit.edu	37	7	74211373	74211373	+	Silent	SNP	G	G	A	rs146532025	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:74211373G>A	ENST00000405086.2	-	16	2667	c.2478C>T	c.(2476-2478)atC>atT	p.I826I	GTF2IRD2_ENST00000451013.2_Silent_p.I373I	NM_173537.2	NP_775808.2	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	826					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						tgagttccgcgattttgggaa	0.478000													21	118					0	0	0.003330	0	0
NSD1	64324	broad.mit.edu	37	5	176638012	176638012	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:176638012C>T	ENST00000439151.2	+	5	2657	c.2612C>T	c.(2611-2613)tCc>tTc	p.S871F	NSD1_ENST00000361032.4_Missense_Mutation_p.S768F|NSD1_ENST00000354179.4_Missense_Mutation_p.S602F|NSD1_ENST00000347982.4_Missense_Mutation_p.S602F	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	871					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCTTACAGATCCTTAGGTGAG	0.403000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			17	37					0	0	0.004990	0	0
OR14C36	127066	broad.mit.edu	37	1	248512081	248512081	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248512081C>T	ENST00000317861.1	+	1	5	c.5C>T	c.(4-6)cCc>cTc	p.P2L		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CCACCGATGCCCAATTCAACC	0.403000													9	37					0	0	0.008291	0	0
IL1RL1	9173	broad.mit.edu	37	2	102968097	102968097	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:102968097G>A	ENST00000233954.1	+	11	1658	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	463	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	p.E463*(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CTACGAGCAGGAGGTTGCCCT	0.537000													9	31					0	0	0.006214	0	0
LIG1	3978	broad.mit.edu	37	19	48653380	48653380	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:48653380G>A	ENST00000263274.7	-	8	1081	c.662C>T	c.(661-663)cCc>cTc	p.P221L	LIG1_ENST00000427526.2_Missense_Mutation_p.P190L|LIG1_ENST00000536218.1_Missense_Mutation_p.P153L|LIG1_ENST00000599165.1_5'UTR	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	221					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	AGCTCTGCGGGGAGGCTTGGT	0.612000								Nucleotide excision repair (NER)					12	45					0	0	0.010729	0	0
MANEA	79694	broad.mit.edu	37	6	96034425	96034425	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:96034425G>A	ENST00000358812.4	+	2	244	c.110G>A	c.(109-111)gGa>gAa	p.G37E	MANEA_ENST00000369293.1_Missense_Mutation_p.G37E	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	37					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		GCTACTTTTGGAGCTCCTTTT	0.358000													23	35					0	0	0.003330	0	0
PSD2	84249	broad.mit.edu	37	5	139193879	139193879	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:139193879C>T	ENST00000274710.3	+	4	1151	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	316	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGCTCATCGGCTGGCACG	0.647000													7	15					0	0	0.003080	0	0
TTBK1	84630	broad.mit.edu	37	6	43251647	43251647	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:43251647C>T	ENST00000259750.4	+	14	3252	c.3169C>T	c.(3169-3171)Cct>Tct	p.P1057S		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1057						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GAGCCGTATCCCTGTCCTGCT	0.687000													15	23					0	0	0.004990	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185276156	185276156	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:185276156A>G	ENST00000367498.3	-	7	1269	c.647T>C	c.(646-648)cTg>cCg	p.L216P	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	216	BACK.|Sufficient for AHR interaction and signaling.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						CTCTTCCATCAGCTCTTCCAG	0.358000													14	29					0	0	0.001855	0	0
LRFN2	57497	broad.mit.edu	37	6	40359880	40359880	+	Silent	SNP	G	G	A	rs144850104	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:40359880G>A	ENST00000338305.6	-	3	2714	c.2172C>T	c.(2170-2172)ttC>ttT	p.F724F		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	724						cell junction|integral to membrane|postsynaptic membrane		p.F724F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCCCATGTCGAAGGAGTGGC	0.692000													7	15					0	0	0.003080	0	0
C2orf78	388960	broad.mit.edu	37	2	74043271	74043271	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:74043271G>A	ENST00000409561.1	+	3	2042	c.1921G>A	c.(1921-1923)Ggg>Agg	p.G641R		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	641								p.G641W(1)|p.G611W(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCATGCACTCGGGAAAAAGAT	0.493000													24	38					0	0	0.003954	0	0
ZNF300	91975	broad.mit.edu	37	5	150275445	150275445	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:150275445G>A	ENST00000446148.2	-	7	1831	c.1404C>T	c.(1402-1404)ctC>ctT	p.L468L	ZNF300_ENST00000274599.5_Silent_p.L452L|ZNF300_ENST00000394226.2_Silent_p.L452L|ZNF300_ENST00000418587.2_Silent_p.L416L|ZNF300_ENST00000427179.1_3'UTR	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGTGTAATGAGTTCTGTCT	0.413000													5	23					0	0	0.000602	0	0
OR8U1	219417	broad.mit.edu	37	11	56143728	56143728	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:56143728C>T	ENST00000302270.1	+	1	629	c.629C>T	c.(628-630)tCc>tTc	p.S210F		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TTCATTTCCTCCCTTCTGATT	0.473000													7	69					0	0	0.001984	0	0
STON1	11037	broad.mit.edu	37	2	48818932	48818932	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:48818932G>A	ENST00000309835.3	+	2	2081	c.2071G>A	c.(2071-2073)Gga>Aga	p.G691R	STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.G691R|STON1_ENST00000406226.1_Missense_Mutation_p.G691R|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.G691R|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.G691R|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.G691R|STON1_ENST00000404752.1_Missense_Mutation_p.G691R|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.G691R					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAGGTCTCTGGGAGTGGAGAG	0.488000													31	25					0	0	0.008361	0	0
FDXR	2232	broad.mit.edu	37	17	72858944	72858944	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:72858944G>A	ENST00000442102.2	-	12	1686	c.1600C>T	c.(1600-1602)Cac>Tac	p.H534Y	FDXR_ENST00000544854.1_Missense_Mutation_p.H439Y|FDXR_ENST00000583917.1_Missense_Mutation_p.H463Y|FDXR_ENST00000293195.5_Missense_Mutation_p.H491Y|FDXR_ENST00000420580.2_Missense_Mutation_p.H451Y|FDXR_ENST00000455107.2_3'UTR|FDXR_ENST00000581530.1_Missense_Mutation_p.H497Y|FDXR_ENST00000582944.1_Missense_Mutation_p.H483Y|FDXR_ENST00000413947.2_Missense_Mutation_p.H522Y	NM_001258012.1	NP_001244941.1	P22570	ADRO_HUMAN	ferredoxin reductase	491					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					TGGGCTCAGTGGCCCAGGAGG	0.682000													8	45					0	0	0.003080	0	0
MYH8	4626	broad.mit.edu	37	17	10304266	10304266	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:10304266C>T	ENST00000403437.2	-	26	3359	c.3265G>A	c.(3265-3267)Gaa>Aaa	p.E1089K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1089					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTGCTGATTTCAAATTCTTTC	0.333000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				9	11					0	0	0.004482	0	0
LINGO2	158038	broad.mit.edu	37	9	27949575	27949575	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:27949575C>T	ENST00000379992.2	-	6	1544	c.1095G>A	c.(1093-1095)tgG>tgA	p.W365*	LINGO2_ENST00000308675.3_Nonsense_Mutation_p.W365*	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	365	LRRCT.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GCTGCAAGATCCAGAGAAGGC	0.542000													6	17					0	0	0.001168	0	0
REM1	28954	broad.mit.edu	37	20	30064427	30064427	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:30064427C>T	ENST00000201979.2	+	2	472	c.179C>T	c.(178-180)tCa>tTa	p.S60L	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	60					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CAGAAACCTTCACCTGCCCCA	0.612000													16	35					0	0	0.004007	0	0
CAMK2D	817	broad.mit.edu	37	4	114378625	114378625	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:114378625C>T	ENST00000454265.2	-	19	2232	c.1374G>A	c.(1372-1374)agG>agA	p.R458R	CAMK2D_ENST00000394524.3_Silent_p.R433R|CAMK2D_ENST00000418639.2_Silent_p.R447R|CAMK2D_ENST00000342666.5_Silent_p.R433R|CAMK2D_ENST00000511664.1_Silent_p.R467R|CAMK2D_ENST00000514328.1_Silent_p.R432R|CAMK2D_ENST00000394522.3_Silent_p.R447R|CAMK2D_ENST00000508738.1_Silent_p.R444R|CAMK2D_ENST00000515496.1_Silent_p.R444R|CAMK2D_ENST00000429180.1_Silent_p.R453R|CAMK2D_ENST00000394526.2_Silent_p.R444R|CAMK2D_ENST00000379773.2_Silent_p.R433R|CAMK2D_ENST00000296402.5_Silent_p.R433R|CAMK2D_ENST00000505990.1_Silent_p.R467R			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	433					interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		ACTGTGTGAGCCTAATATATG	0.458000													34	35					0	0	0.012213	0	0
NANS	54187	broad.mit.edu	37	9	100843246	100843246	+	Missense_Mutation	SNP	C	C	T	rs117325934	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:100843246C>T	ENST00000210444.5	+	5	822	c.752C>T	c.(751-753)tCg>tTg	p.S251L	TRIM14_ENST00000375098.3_Intron|NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000478530.1_5'UTR	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	251					lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				AGTGACCACTCGGCCTCGCTG	0.617000													16	21					0	0	0.004007	0	0
OR51F1	256892	broad.mit.edu	37	11	4790995	4790995	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:4790995G>A	ENST00000380383.1	-	1	173	c.174C>T	c.(172-174)atC>atT	p.I58I	OR51F1_ENST00000343430.3_Silent_p.I51I|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	51						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GCTGGGTAATGATGACAAACA	0.463000													8	25					0	0	0.003080	0	0
CYP1A2	1544	broad.mit.edu	37	15	75047367	75047367	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:75047367C>T	ENST00000343932.4	+	7	1552	c.1489C>T	c.(1489-1491)Ctg>Ttg	p.L497L		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	497					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CATCTACGGGCTGACCATGAA	0.612000													5	34					0	0	0.000602	0	0
KCNK10	54207	broad.mit.edu	37	14	88729615	88729615	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:88729615G>A	ENST00000340700.5	-	2	769	c.318C>T	c.(316-318)gcC>gcT	p.A106A	KCNK10_ENST00000312350.5_Silent_p.A111A|KCNK10_ENST00000319231.5_Silent_p.A111A	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	106					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						CCTTCTCCAAGGCGATGGTAT	0.562000													7	17					0	0	0.013537	0	0
TLR4	7099	broad.mit.edu	37	9	120474858	120474858	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:120474858C>A	ENST00000355622.6	+	3	553	c.452C>A	c.(451-453)aCt>aAt	p.T151N	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.T111N	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	151					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CATCTCAAAACTTTGAAAGAA	0.418000													9	39					1.12685e-05	1.22345e-05	0.004482	1	0
OR13C8	138802	broad.mit.edu	37	9	107331603	107331603	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:107331603A>T	ENST00000335040.1	+	1	155	c.155A>T	c.(154-156)gAt>gTt	p.D52V		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D52G(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ATCATCTTTGATTCTCACCTG	0.443000													76	104					0	0	0.014410	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945450	16945450	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:16945450G>A	ENST00000412962.1	-	0	2069																											GCCTCCCTACGACGGCAGGCC	0.642000													9	96					0	0	0.006214	0	0
OR8K3	219473	broad.mit.edu	37	11	56086445	56086445	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:56086445C>T	ENST00000312711.1	+	1	663	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ACCTGCTCATCCTTGTAGCCA	0.388000													12	26					0	0	0.001855	0	0
NOS1	4842	broad.mit.edu	37	12	117710301	117710301	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:117710301G>A	ENST00000317775.6	-	10	2413	c.1728C>T	c.(1726-1728)ctC>ctT	p.L576L	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.L576L	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	576					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.L576L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CAATCTCTAGGAGCATGTTGG	0.612000													21	16					0	0	0.014323	0	0
AZGP1	563	broad.mit.edu	37	7	99564826	99564826	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:99564826C>T	ENST00000292401.4	-	4	833	c.697G>A	c.(697-699)Ggg>Agg	p.G233R	AZGP1_ENST00000483612.1_5'UTR|AZGP1_ENST00000411734.1_3'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	233	Ig-like C1-type.				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCAATTTTCCCTGGGTAGAAG	0.557000													4	25					0	0	0.000602	0	0
TNIP1	10318	broad.mit.edu	37	5	150411874	150411874	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:150411874G>A	ENST00000389378.2	-	17	2438	c.1850C>T	c.(1849-1851)cCt>cTt	p.P617L	TNIP1_ENST00000315050.7_Missense_Mutation_p.P617L|TNIP1_ENST00000521591.1_Missense_Mutation_p.P617L|TNIP1_ENST00000520931.1_Missense_Mutation_p.P564L|TNIP1_ENST00000523200.1_Missense_Mutation_p.P553L|TNIP1_ENST00000518977.1_Missense_Mutation_p.P617L|TNIP1_ENST00000523338.1_Missense_Mutation_p.P617L|TNIP1_ENST00000521423.1_5'UTR|TNIP1_ENST00000524280.1_Intron|TNIP1_ENST00000522226.1_Missense_Mutation_p.P617L	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	617	Pro-rich.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCTGTGGGAGGGTCCATCAC	0.517000													6	16					0	0	0.001168	0	0
ZNF559	84527	broad.mit.edu	37	19	9453397	9453397	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9453397C>T	ENST00000393883.2	+	6	1918	c.1270C>T	c.(1270-1272)Ctt>Ttt	p.L424F	ZNF559_ENST00000603380.1_Missense_Mutation_p.L424F|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.L488F|ZNF559_ENST00000538743.1_Missense_Mutation_p.L344F|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						ATCCTCATTTCTTATTCGACA	0.408000													7	36					0	0	0.003080	0	0
CR2	1380	broad.mit.edu	37	1	207649738	207649738	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:207649738G>A	ENST00000367057.3	+	15	3065	c.2876G>A	c.(2875-2877)tGg>tAg	p.W959*	CR2_ENST00000458541.2_Nonsense_Mutation_p.W873*|CR2_ENST00000367059.3_Intron|CR2_ENST00000367058.3_Nonsense_Mutation_p.W900*	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	900	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						GAGGGAACCTGGAGCCAACCT	0.423000													17	26					0	0	0.006122	0	0
DNAH9	1770	broad.mit.edu	37	17	11556305	11556305	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:11556305C>T	ENST00000262442.3	+	14	2649	c.2581C>T	c.(2581-2583)Cac>Tac	p.H861Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.H861Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	861	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCTTAAGATCCACGCCCTTGT	0.418000													11	12					0	0	0.010729	0	0
OR2C1	4993	broad.mit.edu	37	16	3406776	3406776	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:3406776C>T	ENST00000304936.2	+	1	888	c.836C>T	c.(835-837)tCg>tTg	p.S279L		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S279W(1)		kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CTGTTCTACTCGTTGGTCACA	0.542000													8	31					0	0	0.003080	0	0
PGPEP1	54858	broad.mit.edu	37	19	18453694	18453694	+	Silent	SNP	C	C	T	rs147343602		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:18453694C>T	ENST00000269919.5	+	2	155	c.60C>T	c.(58-60)acC>acT	p.T20T	PGPEP1_ENST00000252813.5_Intron|PGPEP1_ENST00000604499.1_Silent_p.T20T|PGPEP1_ENST00000595066.1_Silent_p.T20T|PGPEP1_ENST00000595552.1_Silent_p.T20T	NM_017712.2	NP_060182.1	Q9NXJ5	PGPI_HUMAN	pyroglutamyl-peptidase I	20							cysteine-type peptidase activity										GGGAACACACCGTGAACGCCA	0.537000													21	34					0	0	0.002780	0	0
OR6C68	403284	broad.mit.edu	37	12	55886866	55886866	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:55886866C>T	ENST00000379662.1	+	1	720	c.720C>T	c.(718-720)gcC>gcT	p.A240A	OR6C68_ENST00000548615.1_Silent_p.A235A|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA			A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						AGAAAAAAGCCTTTTCTACCT	0.333000													13	14					0	0	0.013537	0	0
E2F6	1876	broad.mit.edu	37	2	11593743	11593743	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:11593743G>A	ENST00000381525.3	-	3	614	c.345C>T	c.(343-345)ctC>ctT	p.L115L	E2F6_ENST00000542100.1_Silent_p.L40L|E2F6_ENST00000362009.4_Silent_p.L115L|E2F6_ENST00000307236.4_Silent_p.L83L|E2F6_ENST00000546212.1_Silent_p.L40L	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN	E2F transcription factor 6	115					negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		TCTTTTCAACGAGGTCGATTC	0.423000													42	46					0	0	0.014410	0	0
OR13C2	392376	broad.mit.edu	37	9	107367602	107367602	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:107367602G>A	ENST00000542196.1	-	1	349	c.307C>T	c.(307-309)Ctc>Ttc	p.L103F		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCCAAGCCGAGGAACATCTGC	0.517000													23	71					0	0	0.004656	0	0
DMRT3	58524	broad.mit.edu	37	9	990474	990474	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:990474G>A	ENST00000190165.2	+	2	926	c.888G>A	c.(886-888)gaG>gaA	p.E296E		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	296					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CGGGAGCAGAGCGAACTTCCG	0.582000													22	35					0	0	0.010504	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518865	113518865	+	Missense_Mutation	SNP	C	C	T	rs62001880	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:113518865C>T	ENST00000284601.3	-	4	2350	c.2282G>A	c.(2281-2283)cGa>cAa	p.R761Q		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	761					glycogen metabolic process	integral to membrane		p.R761Q(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCTGTCACTTCGTGCTGTCTC	0.413000													29	57					0	0	0.012213	0	0
HERC3	8916	broad.mit.edu	37	4	89608440	89608440	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:89608440A>T	ENST00000402738.1	+	23	2886	c.2647A>T	c.(2647-2649)Aag>Tag	p.K883*	HERC3_ENST00000543130.1_Nonsense_Mutation_p.K327*|HERC3_ENST00000264345.3_Nonsense_Mutation_p.K883*	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	883					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		AACTGTGTGCAAGGATAACAG	0.353000													9	6					0	0	0.006214	0	0
SPEF2	79925	broad.mit.edu	37	5	35727893	35727893	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:35727893G>A	ENST00000440995.2	+	21	3016	c.3016G>A	c.(3016-3018)Gaa>Aaa	p.E1006K	SPEF2_ENST00000356031.3_Missense_Mutation_p.E1011K|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1011					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGATCAGAAGAATGGGTCTA	0.428000													15	29					0	0	0.004990	0	0
DSG4	147409	broad.mit.edu	37	18	28986274	28986274	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:28986274C>T	ENST00000359747.4	+	12	1900	c.1871C>T	c.(1870-1872)tCa>tTa	p.S624L	DSG4_ENST00000308128.4_Missense_Mutation_p.S624L|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	624					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCTGGAGTTTCAAATGTTGGT	0.478000													14	63					0	0	0.003163	0	0
FBN2	2201	broad.mit.edu	37	5	127728929	127728929	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:127728929C>T	ENST00000508053.1	-	16	2338	c.1364G>A	c.(1363-1365)gGg>gAg	p.G455E	FBN2_ENST00000262464.4_Missense_Mutation_p.G455E|FBN2_ENST00000508989.1_Missense_Mutation_p.G422E			P35556	FBN2_HUMAN	fibrillin 2	455					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GAAGCCTGTCCCTCCTGGGCC	0.612000													13	50					0	0	0.001855	0	0
FLRT2	23768	broad.mit.edu	37	14	86089609	86089609	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:86089609G>A	ENST00000330753.4	+	2	2518	c.1751G>A	c.(1750-1752)cGg>cAg	p.R584Q	FLRT2_ENST00000554746.1_Missense_Mutation_p.R584Q	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	584					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CGGGGCCGGCGGAAAGATGAT	0.493000													38	55					0	0	0.005524	0	0
CLU	1191	broad.mit.edu	37	8	27456060	27456060	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:27456060G>A	ENST00000316403.10	-	8	1662	c.1257C>T	c.(1255-1257)gtC>gtT	p.V419V	CLU_ENST00000405140.3_Silent_p.V419V|CLU_ENST00000546343.1_Silent_p.V430V|CLU_ENST00000560366.1_Silent_p.V471V|CLU_ENST00000523500.1_Silent_p.V419V			P10909	CLUS_HUMAN	clusterin	419					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CTTCTACAGGGACCGTCACAG	0.542000													9	70					0	0	0.006214	0	0
CDH5	1003	broad.mit.edu	37	16	66436656	66436656	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:66436656G>A	ENST00000341529.3	+	12	2087	c.1939G>A	c.(1939-1941)Gag>Aag	p.E647K	CDH5_ENST00000539168.1_Missense_Mutation_p.E86K	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	647					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CACCTACGACGAGGAGGGCGG	0.721000													9	9					0	0	0.006214	0	0
CEP76	79959	broad.mit.edu	37	18	12674539	12674539	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:12674539G>A	ENST00000262127.2	-	11	2062	c.1837C>T	c.(1837-1839)Ctt>Ttt	p.L613F	CEP76_ENST00000423709.2_Missense_Mutation_p.L538F|RP11-973H7.2_ENST00000585331.1_RNA	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	613					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTTACCGAAGACATGTGGCA	0.363000													28	31					0	0	0.006320	0	0
SULT2A1	6822	broad.mit.edu	37	19	48382323	48382323	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:48382323G>A	ENST00000222002.3	-	4	676	c.537C>T	c.(535-537)ttC>ttT	p.F179F		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	179					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		TCAGTAACAGGAAGTTTTTCT	0.448000													55	114					0	0	0.014410	0	0
PRSS45	377047	broad.mit.edu	37	3	46785598	46785598	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:46785598G>A	ENST00000442359.2	-	2	145	c.146C>T	c.(145-147)tCc>tTc	p.S49F	PRSS50_ENST00000460241.1_Intron	NM_199183.2	NP_954652.2	Q7RTY3	PRS45_HUMAN	protease, serine, 45	49	Peptidase S1.				proteolysis		serine-type endopeptidase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CTGCAGCTTGGAGGTGCCAAG	0.582000													5	4					0	0	0.001168	0	0
MUC4	4585	broad.mit.edu	37	3	195517235	195517235	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:195517235T>G	ENST00000463781.3	-	2	1675	c.1216A>C	c.(1216-1218)Aac>Cac	p.N406H	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.N406H|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	411					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCCTCTGTGTTTCCAAGAGTA	0.453000													42	61					0	0	0.006999	0	0
DDC	1644	broad.mit.edu	37	7	50605603	50605603	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:50605603C>T	ENST00000444124.2	-	4	590	c.390G>A	c.(388-390)aaG>aaA	p.K130K	DDC_ENST00000489162.1_5'UTR|DDC_ENST00000357936.5_Silent_p.K130K|DDC_ENST00000431062.1_Silent_p.K130K|DDC_ENST00000380984.4_Silent_p.K130K|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000426377.1_Intron	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	130	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TCAAAAATGCCTTTGGTAGTT	0.557000													14	60					0	0	0.004990	0	0
MCTP2	55784	broad.mit.edu	37	15	94884147	94884147	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:94884147G>A	ENST00000357742.4	+	6	963	c.963G>A	c.(961-963)aaG>aaA	p.K321K	MCTP2_ENST00000451018.3_Silent_p.K321K|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Silent_p.K321K	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	321					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GTGATTTCAAGAGACACGTAA	0.378000													5	13					0	0	0.000602	0	0
HECW1	23072	broad.mit.edu	37	7	43484268	43484268	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:43484268G>A	ENST00000395891.1	+	11	2102	c.1497G>A	c.(1495-1497)agG>agA	p.R499R	HECW1_ENST00000453890.1_Silent_p.R499R	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	499	Glu-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGGCTGGAAGggaagaagagg	0.622000													3	6					0	0	0.004672	0	0
CYP4F11	57834	broad.mit.edu	37	19	16032971	16032971	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:16032971C>T	ENST00000326742.7	-	8	992	c.991G>A	c.(991-993)Gac>Aac	p.D331N	CYP4F11_ENST00000402119.3_Missense_Mutation_p.D331N|CYP4F11_ENST00000248041.7_Missense_Mutation_p.D331N			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	331					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GCTGTAGTGTCATGGCCTGAG	0.562000													7	39					0	0	0.003080	0	0
TNXB	7148	broad.mit.edu	37	6	32038093	32038093	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:32038093G>A	ENST00000375244.3	-	14	5290	c.5089C>T	c.(5089-5091)Cct>Tct	p.P1697S	TNXB_ENST00000375247.2_Missense_Mutation_p.P1697S			P22105	TENX_HUMAN	tenascin XB	1779	Fibronectin type-III 9.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGGCCCTCAGGAACCGTCCAG	0.662000													69	123					0	0	0.014410	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807820	15807820	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15807820G>A	ENST00000550308.1	+	13	1880	c.1500G>A	c.(1498-1500)agG>agA	p.R500R	CYP4F12_ENST00000324632.9_Silent_p.R500R	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					AGCCCCGCAGGAAGCTGGAAT	0.597000													20	39					0	0	0.012319	0	0
STAB2	55576	broad.mit.edu	37	12	104063338	104063338	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:104063338G>A	ENST00000388887.2	+	21	2396	c.2192G>A	c.(2191-2193)gGc>gAc	p.G731D		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	731					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGCTGCAAAGGCTTCTATGGA	0.453000													52	32					0	0	0.014410	0	0
SATB1	6304	broad.mit.edu	37	3	18391025	18391025	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:18391025C>T	ENST00000338745.6	-	11	3663	c.1929G>A	c.(1927-1929)caG>caA	p.Q643Q	SATB1_ENST00000454909.2_Silent_p.Q643Q|SATB1_ENST00000417717.2_Silent_p.Q675Q|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	643					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GCCGGGTCTTCTGTCGGTTTT	0.592000													23	69					0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179416711	179416711	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179416711C>T	ENST00000589042.1	-	335	91140	c.90916G>A	c.(90916-90918)Gga>Aga	p.G30306R	TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G21241R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G21366R|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G27738R|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G21433R|TTN_ENST00000591111.1_Missense_Mutation_p.G28665R|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28665	Fibronectin type-III 121.						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)			TGGCTGACTCCGTATCTGTTT	0.438000													16	51					0	0	0.003163	0	0
TLN1	7094	broad.mit.edu	37	9	35710878	35710878	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:35710878G>A	ENST00000314888.9	-	32	4472	c.4119C>T	c.(4117-4119)gtC>gtT	p.V1373V	TLN1_ENST00000540444.1_Silent_p.V1373V	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1373	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGTTCCCGGACCGTCTGTG	0.547000													24	55					0	0	0.003954	0	0
SERPINA4	5267	broad.mit.edu	37	14	95033528	95033528	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:95033528G>A	ENST00000557004.1	+	3	1292	c.871G>A	c.(871-873)Gag>Aag	p.E291K	SERPINA4_ENST00000555095.1_Missense_Mutation_p.E291K|SERPINA4_ENST00000298841.5_Missense_Mutation_p.E291K|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	291					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GGAGATTGAAGAGGTTCTGAC	0.463000													7	22					0	0	0.001984	0	0
PTPRJ	5795	broad.mit.edu	37	11	48158626	48158626	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:48158626G>A	ENST00000418331.2	+	10	2297	c.1945G>A	c.(1945-1947)Gat>Aat	p.D649N		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	649	Fibronectin type-III 7.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCAGAACTTTGATGACGCCTC	0.443000													9	62					0	0	0.008291	0	0
ABCD2	225	broad.mit.edu	37	12	39994425	39994425	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:39994425C>T	ENST00000308666.3	-	6	1729	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	532	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AGGACTCCTTCATACACAGGC	0.373000													34	58					0	0	0.003271	0	0
SLC6A9	6536	broad.mit.edu	37	1	44468196	44468196	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:44468196G>A	ENST00000372310.3	-	7	1011	c.846C>T	c.(844-846)atC>atT	p.I282I	SLC6A9_ENST00000372306.3_Silent_p.I282I|SLC6A9_ENST00000360584.2_Silent_p.I355I|SLC6A9_ENST00000372307.3_Silent_p.I217I|SLC6A9_ENST00000357730.2_Silent_p.I301I|SLC6A9_ENST00000537678.1_Silent_p.I217I|SLC6A9_ENST00000475075.2_Silent_p.I171I	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	355						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)	TGGCCTCCAGGATCTTGTCCC	0.632000													11	42					0	0	0.013537	0	0
FIBIN	387758	broad.mit.edu	37	11	27016391	27016391	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:27016391C>T	ENST00000318627.2	+	1	764	c.318C>T	c.(316-318)tcC>tcT	p.S106S		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	106						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						AAAGCATCTCCTACGACCTAG	0.632000													5	37					0	0	0.000602	0	0
PSMD13	5719	broad.mit.edu	37	11	251895	251895	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:251895C>T	ENST00000532097.1	+	12	1498	c.994C>T	c.(994-996)Cac>Tac	p.H332Y	PSMD13_ENST00000532025.1_3'UTR|PSMD13_ENST00000352303.5_Missense_Mutation_p.H305Y|PSMD13_ENST00000431206.2_Missense_Mutation_p.H334Y	NM_002817.3	NP_002808.3	Q9UNM6	PSD13_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 13	332	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	10		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		CAAACGAGTCCACATGACCTG	0.527000													46	121					0	0	0.014410	0	0
PHKG1	5260	broad.mit.edu	37	7	56149359	56149359	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:56149359C>T	ENST00000452681.2	-	10	1127	c.978G>A	c.(976-978)gaG>gaA	p.E326E	PHKG1_ENST00000537360.1_Silent_p.E240E|PHKG1_ENST00000297373.2_Silent_p.E294E	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	294	Calmodulin-binding (domain-N).				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCCGCACTTCCTCCACCAAGT	0.602000													8	44					0	0	0.003080	0	0
KIAA1958	158405	broad.mit.edu	37	9	115337393	115337393	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:115337393C>T	ENST00000337530.6	+	2	1329	c.1033C>T	c.(1033-1035)Cat>Tat	p.H345Y	KIAA1958_ENST00000374244.3_Missense_Mutation_p.H345Y|KIAA1958_ENST00000536272.1_Missense_Mutation_p.H345Y	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	345								p.H345N(1)		endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GTTCCTGTCCCATCTGCCCAG	0.567000													25	105					0	0	0.002780	0	0
CLCN1	1180	broad.mit.edu	37	7	143028356	143028356	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:143028356C>T	ENST00000343257.2	+	9	1098	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	337					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GAACCAATTTCCGAATGGATT	0.522000													20	72					0	0	0.003954	0	0
BRINP2	57795	broad.mit.edu	37	1	177250287	177250287	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:177250287G>A	ENST00000361539.4	+	8	2287	c.1975G>A	c.(1975-1977)Gag>Aag	p.E659K	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		659						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						CAGCTCCAATGAGACAATCTA	0.458000													19	52					0	0	0.014323	0	0
TEAD1	7003	broad.mit.edu	37	11	12903501	12903501	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:12903501C>T	ENST00000361905.4	+	8	1191	c.526C>T	c.(526-528)Cca>Tca	p.P176S	TEAD1_ENST00000361985.2_Missense_Mutation_p.P191S|TEAD1_ENST00000526600.1_Missense_Mutation_p.P95S|TEAD1_ENST00000527575.1_Missense_Mutation_p.P191S|TEAD1_ENST00000527636.1_Missense_Mutation_p.P191S|TEAD1_ENST00000334310.6_Missense_Mutation_p.P180S	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	191	Pro-rich.|Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AGCCCCCATTCCAGGTGAGTG	0.552000													26	37					0	0	0.006320	0	0
DGCR14	8220	broad.mit.edu	37	22	19125737	19125737	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:19125737G>A	ENST00000252137.6	-	7	959	c.916C>T	c.(916-918)Cct>Tct	p.P306S		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	306					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					CCAGGGGCAGGGGAAGGAGTG	0.632000													9	26					0	0	0.006214	0	0
OR8K3	219473	broad.mit.edu	37	11	56085818	56085818	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:56085818C>T	ENST00000312711.1	+	1	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TGAATGAATTCATTCTTACGG	0.413000													20	55					0	0	0.008871	0	0
TRAF1	7185	broad.mit.edu	37	9	123673735	123673735	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:123673735C>T	ENST00000373887.3	-	6	3207	c.762G>A	c.(760-762)gaG>gaA	p.E254E	TRAF1_ENST00000540010.1_Silent_p.E254E|TRAF1_ENST00000546084.1_Silent_p.E132E	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	254					apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						GCAAGCTCTGCTCCAGCTTGC	0.607000													11	34					0	0	0.010729	0	0
IGFBPL1	347252	broad.mit.edu	37	9	38414197	38414197	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:38414197G>A	ENST00000377694.1	-	2	486	c.464C>T	c.(463-465)cCt>cTt	p.P155L		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	155	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		GACGACCACAGGAGCTAGGAG	0.617000													9	40					0	0	0.006214	0	0
VSTM1	284415	broad.mit.edu	37	19	54545038	54545038	+	Missense_Mutation	SNP	G	G	A	rs141064630		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:54545038G>A	ENST00000338372.2	-	8	761	c.586C>T	c.(586-588)Ctc>Ttc	p.L196F	VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000366170.2_Missense_Mutation_p.L108F|VSTM1_ENST00000376626.1_Missense_Mutation_p.L165F	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	196						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		CTCACCGAGAGAGATACCCTT	0.468000													14	20					0	0	0.003163	0	0
TBX15	6913	broad.mit.edu	37	1	119427732	119427732	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:119427732G>A	ENST00000369429.3	-	8	1441	c.1432C>T	c.(1432-1434)Cag>Tag	p.Q478*	TBX15_ENST00000207157.3_Nonsense_Mutation_p.Q372*			Q96SF7	TBX15_HUMAN	T-box 15	478						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		ATGACATACTGAAACTGGGAA	0.567000													20	23					0	0	0.010504	0	0
DNAJA2	10294	broad.mit.edu	37	16	47001557	47001557	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:47001557G>A	ENST00000317089.5	-	5	660	c.443_splice	c.e5-1	p.Q149_splice		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	149					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				TTTCCGCCTTGGCTAAAGCAA	0.468000													20	71					0	0	0.012319	0	0
TP63	8626	broad.mit.edu	37	3	189587118	189587118	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:189587118C>T	ENST00000264731.3	+	9	1224	c.1135C>T	c.(1135-1137)Cgt>Tgt	p.R379C	TP63_ENST00000437221.1_Missense_Mutation_p.R285C|TP63_ENST00000354600.5_Missense_Mutation_p.R285C|TP63_ENST00000320472.5_Missense_Mutation_p.R379C|TP63_ENST00000392463.2_Missense_Mutation_p.R285C|TP63_ENST00000449992.1_Missense_Mutation_p.R200C|TP63_ENST00000456148.1_Missense_Mutation_p.R281C|TP63_ENST00000382063.4_Missense_Mutation_p.R294C|TP63_ENST00000440651.2_Missense_Mutation_p.R375C|TP63_ENST00000392460.3_Missense_Mutation_p.R379C|TP63_ENST00000392461.3_Missense_Mutation_p.R285C|TP63_ENST00000418709.2_Missense_Mutation_p.R379C	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	379	Interaction with HIPK2.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R379C(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACCAGCGTTTCGTCAGAACAC	0.363000										HNSCC(45;0.13)			7	33					0	0	0.006214	0	0
DEF6	50619	broad.mit.edu	37	6	35280081	35280081	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:35280081G>A	ENST00000316637.5	+	4	431	c.426G>A	c.(424-426)gtG>gtA	p.V142V	DEF6_ENST00000542066.1_Intron	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	142						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						TGCTCCAGGTGGAATACCTGC	0.607000													14	26					0	0	0.001855	0	0
ACSM5	54988	broad.mit.edu	37	16	20451727	20451727	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:20451727G>A	ENST00000331849.4	+	14	1865	c.1718G>A	c.(1717-1719)cGa>cAa	p.R573Q	CTD-2194A8.2_ENST00000574654.1_RNA	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	573					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						AGTAAATTGCGAAGTCAGGAG	0.488000													6	31					0	0	0.010729	0	0
BPIFA1	51297	broad.mit.edu	37	20	31825524	31825524	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:31825524C>T	ENST00000354297.4	+	2	78	c.7C>T	c.(7-9)Caa>Taa	p.Q3*	BPIFA1_ENST00000375422.2_Nonsense_Mutation_p.Q3*|BPIFA1_ENST00000375413.4_Nonsense_Mutation_p.Q3*	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	3					innate immune response	extracellular region	lipid binding										AAAGATGTTTCAAACTGGGGG	0.552000													19	27					0	0	0.008871	0	0
ZNF365	22891	broad.mit.edu	37	10	64136000	64136000	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:64136000C>T	ENST00000395254.3	+	2	328	c.48C>T	c.(46-48)tcC>tcT	p.S16S	ZNF365_ENST00000395255.3_Silent_p.S16S|ZNF365_ENST00000410046.3_Silent_p.S16S|ZNF365_ENST00000466727.1_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGCAGGAGTCCTTTGAGAATG	0.493000													11	40					0	0	0.010729	0	0
ABCA12	26154	broad.mit.edu	37	2	215843674	215843674	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:215843674C>T	ENST00000272895.7	-	32	5050	c.4831G>A	c.(4831-4833)Gat>Aat	p.D1611N	ABCA12_ENST00000389661.4_Missense_Mutation_p.D1293N	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1611					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCCCCAATATCCTCCTTGAGG	0.493000													14	37					0	0	0.002450	0	0
PTN	5764	broad.mit.edu	37	7	136936040	136936040	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:136936040C>T	ENST00000348225.2	-	4	815	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	PTN_ENST00000393083.2_Missense_Mutation_p.E130K	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	130					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TTCTGGCATTCGGCATTGTGC	0.507000													66	134					0	0	0.014410	0	0
ATRNL1	26033	broad.mit.edu	37	10	117308974	117308974	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:117308974C>T	ENST00000355044.3	+	26	3849	c.3723C>T	c.(3721-3723)ttC>ttT	p.F1241F	ATRNL1_ENST00000303745.7_Silent_p.F34F|ATRNL1_ENST00000423111.2_Silent_p.F292F	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1241						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CCAGTTGTTTCCTATCCTTAT	0.313000													9	19					0	0	0.013537	0	0
SLC13A4	26266	broad.mit.edu	37	7	135378926	135378926	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:135378926C>T	ENST00000354042.4	-	10	1766	c.1077G>A	c.(1075-1077)gaG>gaA	p.E359E		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	359						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						GGATCCTCTTCTCTGACAACT	0.413000													20	47					0	0	0.012319	0	0
OR2B11	127623	broad.mit.edu	37	1	247614805	247614805	+	Silent	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:247614805G>T	ENST00000318749.6	-	1	503	c.480C>A	c.(478-480)tcC>tcA	p.S160S		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCTGCACGAAGGAGTTGCCGA	0.602000													9	25					3.09899e-07	3.37378e-07	0.004482	1	0
PLG	5340	broad.mit.edu	37	6	161173212	161173212	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:161173212C>T	ENST00000308192.9	+	18	2254	c.2191C>T	c.(2191-2193)Cgc>Tgc	p.R731C		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	731	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGTGTGCAATCGCTATGAGTT	0.473000													25	35					0	0	0.003954	0	0
PHKB	5257	broad.mit.edu	37	16	47644793	47644793	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:47644793A>G	ENST00000455779.1	+	15	1584	c.1399A>G	c.(1399-1401)Aag>Gag	p.K467E	PHKB_ENST00000323584.5_Missense_Mutation_p.K474E|PHKB_ENST00000299167.8_Missense_Mutation_p.K474E|PHKB_ENST00000566044.1_Missense_Mutation_p.K467E			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	474					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TGTCCCACTAAAGGATCAACG	0.368000													10	27					0	0	0.013537	0	0
ASNS	440	broad.mit.edu	37	7	97483989	97483989	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:97483989G>A	ENST00000175506.4	-	11	1669	c.1141C>T	c.(1141-1143)Cct>Tct	p.P381S	ASNS_ENST00000394308.3_Missense_Mutation_p.P381S|ASNS_ENST00000444334.1_Missense_Mutation_p.P360S|ASNS_ENST00000437628.1_Missense_Mutation_p.P298S|ASNS_ENST00000422745.1_Missense_Mutation_p.P360S|ASNS_ENST00000455086.1_Missense_Mutation_p.P298S|ASNS_ENST00000394309.3_Missense_Mutation_p.P381S	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	381	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TCAGGAGAAGGAGCCTATTTC	0.448000													14	28					0	0	0.003163	0	0
FAM171B	165215	broad.mit.edu	37	2	187627133	187627133	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:187627133C>T	ENST00000304698.5	+	8	2267	c.2064C>T	c.(2062-2064)tcC>tcT	p.S688S		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	688						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGAGGCACTCCTTTATAGACC	0.517000													10	46					0	0	0.006214	0	0
DEFB131	644414	broad.mit.edu	37	4	9452214	9452214	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:9452214G>A	ENST00000334879.1	+	2	187	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K		NM_001040448.2|NM_001242853.1	NP_001035538.2|NP_001229782.1	P59861	DB131_HUMAN	defensin, beta 131	63					defense response to bacterium	extracellular region				lung(2)	2						GAAGATCATTGAAATTGACGG	0.363000													7	8					0	0	0.003080	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935935	151935935	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:151935935G>A	ENST00000393902.3	-	3	799	c.232C>T	c.(232-234)Cct>Tct	p.P78S	MAGEA3_ENST00000370278.3_Missense_Mutation_p.P78S			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	78										endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCAGAGAGGGTAGTTCATG	0.592000													14	7					0	0	0.006122	0	0
GPA33	10223	broad.mit.edu	37	1	167042670	167042670	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:167042670G>A	ENST00000367868.3	-	2	493	c.150C>T	c.(148-150)tcC>tcT	p.S50S	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	50	Ig-like V-type.					integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CCTCTCGACTGGAGGTGGAAG	0.517000													14	29					0	0	0.004990	0	0
CPNE8	144402	broad.mit.edu	37	12	39161474	39161474	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:39161474G>A	ENST00000331366.5	-	8	634	c.538C>T	c.(538-540)Cct>Tct	p.P180S	CPNE8_ENST00000360449.3_Missense_Mutation_p.P168S	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	180	C2 2.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				ACAAGGAAAGGATCTGATTTT	0.289000													27	31					0	0	0.009535	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73022164	73022164	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:73022164C>T	ENST00000263674.3	+	1	2831	c.2481C>T	c.(2479-2481)tcC>tcT	p.S827S		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	827					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AGAAGAAATCCCTGAGTGACC	0.622000													32	47					0	0	0.012213	0	0
TRAV18	28665	broad.mit.edu	37	14	22471402	22471402	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:22471402C>T	ENST00000390446.3	+	0	58																											ATATACCTTTCGGTTTGGATA	0.408000													24	13					0	0	0.003954	0	0
C20orf85	128602	broad.mit.edu	37	20	56728623	56728623	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:56728623C>T	ENST00000371168.3	+	2	153	c.92C>T	c.(91-93)tCg>tTg	p.S31L		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	31										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			AAGGCTGAATCGGAAGCACGG	0.473000													29	53					0	0	0.013726	0	0
FCHO2	115548	broad.mit.edu	37	5	72333013	72333013	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:72333013C>T	ENST00000430046.2	+	10	1001	c.885C>T	c.(883-885)atC>atT	p.I295I	FCHO2_ENST00000512348.1_Silent_p.I262I|FCHO2_ENST00000287761.6_Silent_p.I295I|FCHO2_ENST00000341845.6_Silent_p.I295I	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	295										cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		TGCCAGGAATCATTAAAAAGG	0.249000													5	13					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179395822	179395822	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179395822G>A	ENST00000589042.1	-	358	105744	c.105520C>T	c.(105520-105522)Cgc>Tgc	p.R35174C	TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R26109C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R26234C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R32606C|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R26301C|TTN_ENST00000591111.1_Missense_Mutation_p.R33533C|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33533							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)			ACTTGGTGGCGGGCAGAAGTA	0.512000													33	167					0	0	0.003271	0	0
C14orf28	122525	broad.mit.edu	37	14	45369720	45369720	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:45369720C>T	ENST00000325192.3	+	2	357	c.82C>T	c.(82-84)Cct>Tct	p.P28S	RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Missense_Mutation_p.P28S	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	28										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						GCCTGTTCTTCCTTGGGGGGG	0.373000													8	46					0	0	0.006214	0	0
FCGBP	8857	broad.mit.edu	37	19	40368658	40368658	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:40368658G>A	ENST00000221347.6	-	28	12697	c.12690C>T	c.(12688-12690)ttC>ttT	p.F4230F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4230	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGCCATTAGGGAAGACCTGGT	0.642000													37	234					0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9084264	9084264	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9084264C>T	ENST00000397910.4	-	1	7754	c.7551G>A	c.(7549-7551)atG>atA	p.M2517I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2517	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						TGAGAAAGCCCATGGCAGGTA	0.517000													12	33					0	0	0.001855	0	0
DIAPH1	1729	broad.mit.edu	37	5	140954622	140954622	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140954622C>T	ENST00000253811.6	-	15	1693	c.1553G>A	c.(1552-1554)gGa>gAa	p.G518E	DIAPH1_ENST00000518047.1_Missense_Mutation_p.G509E|DIAPH1_ENST00000520569.1_Missense_Mutation_p.G464E|DIAPH1_ENST00000389057.5_Missense_Mutation_p.G509E|DIAPH1_ENST00000398562.2_Missense_Mutation_p.G509E|DIAPH1_ENST00000398566.3_Missense_Mutation_p.G509E|DIAPH1_ENST00000389054.3_Missense_Mutation_p.G518E|DIAPH1_ENST00000398557.4_Missense_Mutation_p.G518E			O60610	DIAP1_HUMAN	diaphanous-related formin 1	518					regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCTTTTTCTCCCTGAAGATC	0.463000													10	35					0	0	0.008291	0	0
EPHA6	285220	broad.mit.edu	37	3	96706415	96706415	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:96706415G>A	ENST00000389672.5	+	3	730	c.692G>A	c.(691-693)gGa>gAa	p.G231E	EPHA6_ENST00000542517.1_Missense_Mutation_p.G137E|EPHA6_ENST00000470610.2_Missense_Mutation_p.G231E	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	136						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GAGTCCCACGGAATTAAATTC	0.403000													33	130					0	0	0.013726	0	0
SUGP1	57794	broad.mit.edu	37	19	19420913	19420913	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:19420913G>A	ENST00000247001.5	-	3	650	c.303C>T	c.(301-303)acC>acT	p.T101T	SUGP1_ENST00000585763.1_5'UTR|SUGP1_ENST00000334782.5_Silent_p.T101T	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	101					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CACCTGTGCTGGTCTGTGCCT	0.527000													15	29					0	0	0.003163	0	0
SERTAD4	56256	broad.mit.edu	37	1	210415615	210415615	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:210415615C>T	ENST00000367012.3	+	4	1234	c.1004C>T	c.(1003-1005)tCc>tTc	p.S335F		NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	335							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TGGAAAAAGTCCTTACGGAAA	0.388000													18	35					0	0	0.006122	0	0
CTSL3P	392360	broad.mit.edu	37	9	90388119	90388119	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:90388119G>A	ENST00000354530.2	+	0	190					NR_027917.1																						CAAATCTGTGGATTGGAGAGA	0.502000													8	24					0	0	0.004482	0	0
FREM1	158326	broad.mit.edu	37	9	14863874	14863874	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:14863874C>T	ENST00000380881.4	-	4	1077	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	FREM1_ENST00000380880.3_Missense_Mutation_p.E88K|FREM1_ENST00000422223.2_Missense_Mutation_p.E88K			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	88					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.E88K(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TACTTGACTTCGTTGGGAAGG	0.413000													11	14					0	0	0.001855	0	0
OR8U1	219417	broad.mit.edu	37	11	56143975	56143975	+	Silent	SNP	C	C	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:56143975C>G	ENST00000302270.1	+	1	876	c.876C>G	c.(874-876)ctC>ctG	p.L292L		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TCTATAGCCTCCAGAATAAGG	0.373000													30	93					0	0	0.006230	0	0
CST11	140880	broad.mit.edu	37	20	23433381	23433381	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:23433381G>A	ENST00000377009.3	-	1	101	c.68C>T	c.(67-69)cCc>cTc	p.P23L	CST11_ENST00000377007.3_Missense_Mutation_p.P23L	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	23					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TGCTTGGTAGGGGAGGGCCAT	0.512000													17	29					0	0	0.004007	0	0
PABPC3	5042	broad.mit.edu	37	13	25671071	25671071	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:25671071G>A	ENST00000281589.3	+	1	772	c.735G>A	c.(733-735)caG>caA	p.Q245Q		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	245	RRM 3.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAGATGCACAGAAAGCTGTAG	0.433000													5	47					0	0	0.000602	0	0
USP29	57663	broad.mit.edu	37	19	57642615	57642615	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:57642615G>A	ENST00000254181.4	+	4	3026	c.2572G>A	c.(2572-2574)Gat>Aat	p.D858N	USP29_ENST00000598197.1_Missense_Mutation_p.D858N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	858					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACATACAACGATCTATGTGT	0.453000													18	36					0	0	0.007413	0	0
CFHR5	81494	broad.mit.edu	37	1	196953159	196953159	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:196953159G>A	ENST00000367414.5	+	3	450	c.394G>A	c.(394-396)Gat>Aat	p.D132N	CFHR5_ENST00000256785.4_Missense_Mutation_p.D108N	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	108	Sushi 2.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TCTGGAAGGTGATACTGTACA	0.378000													14	30					0	0	0.001855	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010864	59010864	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:59010864G>A	ENST00000263093.2	-	7	1771	c.1662C>T	c.(1660-1662)acC>acT	p.T554T	SLC27A5_ENST00000601355.1_Silent_p.T470T	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	554					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	p.T554I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CGGACCGGAAGGTGTCCCCGA	0.657000													22	43					0	0	0.014323	0	0
RPL35	11224	broad.mit.edu	37	9	127620225	127620225	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:127620225G>A	ENST00000348462.3	-	4	392	c.344C>T	c.(343-345)cCg>cTg	p.P115L	RPL35_ENST00000373570.4_3'UTR	NM_007209.3	NP_009140.1	P42766	RL35_HUMAN	ribosomal protein L35	115					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4				GBM - Glioblastoma multiforme(294;0.182)		CTTCCGCAGCGGGTACAGCCG	0.592000													10	25					0	0	0.008291	0	0
GHR	2690	broad.mit.edu	37	5	42718801	42718801	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:42718801G>A	ENST00000230882.4	+	10	1382	c.1192G>A	c.(1192-1194)Gat>Aat	p.D398N	GHR_ENST00000357703.3_Missense_Mutation_p.D376N|GHR_ENST00000537449.1_Missense_Mutation_p.D211N|GHR_ENST00000513625.1_3'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	398					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TCTGGAGACTGATTTCAATGC	0.468000													13	40					0	0	0.003163	0	0
ANPEP	290	broad.mit.edu	37	15	90340908	90340908	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:90340908G>A	ENST00000300060.6	-	15	2368	c.2055C>T	c.(2053-2055)ttC>ttT	p.F685F	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	685	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CTTCAATCAGGAAGAGGGTGT	0.577000													32	76					0	0	0.006230	0	0
KCNH1	3756	broad.mit.edu	37	1	210857182	210857182	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:210857182G>A	ENST00000367007.4	-	11	2499	c.2330C>T	c.(2329-2331)tCc>tTc	p.S777F	KCNH1_ENST00000271751.4_Missense_Mutation_p.S804F	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	804					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CCCGGAGGTGGAGGCTGCCTG	0.672000													24	56					0	0	0.014323	0	0
POTEH	23784	broad.mit.edu	37	22	16279199	16279199	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:16279199C>T	ENST00000343518.6	-	4	1075	c.1024G>A	c.(1024-1026)Gga>Aga	p.G342R		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	342										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTATACCTTCCATATCTATCC	0.318000													16	208					0	0	0.006122	0	0
CDC40	51362	broad.mit.edu	37	6	110533353	110533353	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:110533353T>C	ENST00000368932.1	+	8	846	c.745T>C	c.(745-747)Tat>Cat	p.Y249H	CDC40_ENST00000368930.1_Missense_Mutation_p.Y249H|CDC40_ENST00000307731.1_Missense_Mutation_p.Y249H|CDC40_ENST00000368933.1_Missense_Mutation_p.Y249H			O60508	PRP17_HUMAN	cell division cycle 40	249					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		AATGTATGACTATCAAGGCAG	0.328000													16	38					0	0	0.004990	0	0
DSG4	147409	broad.mit.edu	37	18	28991347	28991347	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:28991347G>A	ENST00000359747.4	+	14	2377	c.2348G>A	c.(2347-2349)gGa>gAa	p.G783E	DSG4_ENST00000308128.4_Missense_Mutation_p.G764E|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	764					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCTACCATGGGAACCCTGCGG	0.582000													14	28					0	0	0.001855	0	0
IL17RB	55540	broad.mit.edu	37	3	53883697	53883697	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:53883697G>A	ENST00000288167.3	+	3	110	c.101G>A	c.(100-102)tGg>tAg	p.W34*		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	34					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		TCTCCAGAGTGGATGCTACAA	0.483000													23	103					0	0	0.004656	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883656	228883656	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:228883656G>A	ENST00000392056.3	-	7	1960	c.1914C>T	c.(1912-1914)gaC>gaT	p.D638D	SPHKAP_ENST00000344657.5_Silent_p.D638D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	638						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGTCCAGAAAGTCTCCAATGC	0.483000													17	21					0	0	0.004007	0	0
GRIK2	2898	broad.mit.edu	37	6	102307279	102307279	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:102307279G>A	ENST00000369138.1	+	10	1925	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	GRIK2_ENST00000421544.1_Missense_Mutation_p.E479K|GRIK2_ENST00000413795.1_Missense_Mutation_p.E479K|GRIK2_ENST00000318991.6_Missense_Mutation_p.E479K|GRIK2_ENST00000369134.4_Missense_Mutation_p.E430K|GRIK2_ENST00000369137.3_Missense_Mutation_p.E479K	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	479					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CTTTACATATGAAATTAGACT	0.388000													12	30					0	0	0.013537	0	0
KPRP	448834	broad.mit.edu	37	1	152732846	152732846	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152732846G>A	ENST00000368773.1	+	2	840	c.782G>A	c.(781-783)cGg>cAg	p.R261Q	KPRP_ENST00000606109.1_Missense_Mutation_p.R261Q	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	261	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCTCGGCGGCTGCAGCTT	0.607000													9	49					0	0	0.004482	0	0
SLC6A11	6538	broad.mit.edu	37	3	10974875	10974875	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:10974875C>T	ENST00000254488.2	+	11	1476	c.1410C>T	c.(1408-1410)gcC>gcT	p.A470A		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	470					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		ACTCCTATGCCGCCAGTGGGA	0.592000													31	182					0	0	0.010818	0	0
POFUT1	23509	broad.mit.edu	37	20	30804488	30804488	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:30804488C>T	ENST00000375749.3	+	4	568	c.506C>T	c.(505-507)tCc>tTc	p.S169F	POFUT1_ENST00000486717.1_3'UTR|POFUT1_ENST00000375730.3_Missense_Mutation_p.S169F|POFUT1_ENST00000539210.1_Intron	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	169					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACAGGCATTTCCTTCAGTGCT	0.507000													30	66					0	0	0.012213	0	0
CDR1	1038	broad.mit.edu	37	X	139866204	139866204	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:139866204C>T	ENST00000370532.2	-	1	519	c.328G>A	c.(328-330)Gat>Aat	p.D110N		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	110	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCCAAAAAATCCGGGTCTTCC	0.453000													39	10					0	0	0.005524	0	0
ARPP21	10777	broad.mit.edu	37	3	35770852	35770852	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:35770852C>T	ENST00000187397.4	+	15	1739	c.1283C>T	c.(1282-1284)cCt>cTt	p.P428L	ARPP21_ENST00000458225.1_Missense_Mutation_p.P394L|ARPP21_ENST00000337271.5_Missense_Mutation_p.P374L|ARPP21_ENST00000417925.1_Missense_Mutation_p.P394L|ARPP21_ENST00000444190.1_Missense_Mutation_p.P374L	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	428						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ACCCATCCACCTCTCCAGAGC	0.567000													31	57					0	0	0.013726	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872921	51872921	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:51872921C>T	ENST00000371497.5	+	2	3811	c.2924C>T	c.(2923-2925)tCg>tTg	p.S975L	TSHZ2_ENST00000329613.6_Missense_Mutation_p.S972L|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Missense_Mutation_p.S972L	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	975					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCCCGGGTATCGTCGGCTCAG	0.493000													9	33					0	0	0.006214	0	0
SATB1	6304	broad.mit.edu	37	3	18393508	18393508	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:18393508G>A	ENST00000338745.6	-	10	3489	c.1755C>T	c.(1753-1755)atC>atT	p.I585I	SATB1_ENST00000454909.2_Silent_p.I585I|SATB1_ENST00000417717.2_Silent_p.I585I|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	585					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTGGAACATGGATAATGTGGG	0.463000													37	86					0	0	0.013114	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65715223	65715223	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:65715223G>A	ENST00000532620.1	+	0	1158							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						AATGGAGGAAGACAAGGGCCA	0.617000													3	5					0	0	0.004672	0	0
EPS8L3	79574	broad.mit.edu	37	1	110294795	110294795	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:110294795C>T	ENST00000369805.3	-	15	1488	c.1259G>A	c.(1258-1260)gGg>gAg	p.G420E	EPS8L3_ENST00000361965.4_Missense_Mutation_p.G419E|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Intron	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	419						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TGAGGTGCTCCCTAACCTATG	0.582000													75	134					0	0	0.014410	0	0
KDM3A	55818	broad.mit.edu	37	2	86709633	86709633	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:86709633C>T	ENST00000409556.1	+	19	3103	c.2738C>T	c.(2737-2739)tCt>tTt	p.S913F	KDM3A_ENST00000542128.1_Missense_Mutation_p.S861F|KDM3A_ENST00000312912.5_Missense_Mutation_p.S913F|KDM3A_ENST00000409064.1_Missense_Mutation_p.S913F			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	913					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						ATCTTTGCCTCTTTGGTGCAA	0.403000													10	74					0	0	0.010729	0	0
AKR1D1	6718	broad.mit.edu	37	7	137790062	137790062	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:137790062G>A	ENST00000242375.3	+	5	508	c.466G>A	c.(466-468)Gct>Act	p.A156T	AKR1D1_ENST00000411726.2_Intron|AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000432161.1_Missense_Mutation_p.A156T	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	156					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						GGCGATGGAAGCTTGCAAAGA	0.463000													55	77					0	0	0.014410	0	0
DSCAML1	57453	broad.mit.edu	37	11	117299164	117299164	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:117299164C>T	ENST00000321322.6	-	33	6223	c.6222G>A	c.(6220-6222)ggG>ggA	p.G2074G	DSCAML1_ENST00000527706.1_Silent_p.G1804G	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	2014					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)		TGTGTGGGCCCCCGGCTCGTG	0.736000													7	9					0	0	0.004482	0	0
PLXNB2	23654	broad.mit.edu	37	22	50722331	50722331	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:50722331G>A	ENST00000449103.1	-	14	2492	c.2352C>T	c.(2350-2352)ggC>ggT	p.G784G	PLXNB2_ENST00000359337.4_Silent_p.G784G|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	784					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACCTGCTCTGGCCCCCGCACC	0.672000													4	3					0	0	0.009096	0	0
TRAV21	28662	broad.mit.edu	37	14	22521032	22521032	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:22521032G>A	ENST00000390449.3	+	0	60																											ACAGGGGTGAGCAGCAAACAG	0.408000													44	54					0	0	0.014410	0	0
WNT2	7472	broad.mit.edu	37	7	116937698	116937698	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:116937698G>A	ENST00000265441.3	-	4	1120	c.821C>T	c.(820-822)tCt>tTt	p.S274F		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	274					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GTAGTCTGGAGAATTCTCAAA	0.413000													22	36					0	0	0.003954	0	0
OR2T6	254879	broad.mit.edu	37	1	248551306	248551306	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248551306C>T	ENST00000355728.2	+	1	397	c.397C>T	c.(397-399)Cct>Tct	p.P133S		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACTGCGCTATCCTGTCCTCAT	0.562000													17	50					0	0	0.004007	0	0
KLHL32	114792	broad.mit.edu	37	6	97562253	97562253	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:97562253G>A	ENST00000369261.4	+	7	1585	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	KLHL32_ENST00000536676.1_Missense_Mutation_p.E372K|KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000539200.1_Missense_Mutation_p.E339K	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	408										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		GGGCAGAAATGAACTGCGCCA	0.498000													5	46					0	0	0.001168	0	0
SRRM4	84530	broad.mit.edu	37	12	119583234	119583234	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:119583234C>T	ENST00000267260.4	+	9	1208	c.820C>T	c.(820-822)Ccg>Tcg	p.P274S		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	274	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AACAGCCAGCCCGCTCACCAC	0.612000													3	6					0	0	0.004672	0	0
EDEM1	9695	broad.mit.edu	37	3	5241372	5241372	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:5241372C>T	ENST00000256497.4	+	3	811	c.678C>T	c.(676-678)gcC>gcT	p.A226A	EDEM1_ENST00000445686.1_Silent_p.A31A	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	226					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		TCTTTGAGGCCACGATAAGGT	0.343000													10	22					0	0	0.006214	0	0
CASR	846	broad.mit.edu	37	3	122003444	122003444	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:122003444C>T	ENST00000498619.1	+	7	3111	c.2673C>T	c.(2671-2673)ttC>ttT	p.F891F	CASR_ENST00000296154.5_Silent_p.F881F|CASR_ENST00000490131.1_Silent_p.F881F	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	881	Interaction with RNF19A.				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTCACGCTTTCAAGGTGGCTG	0.617000													9	10					0	0	0.008291	0	0
SMR3A	26952	broad.mit.edu	37	4	71232694	71232694	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:71232694C>T	ENST00000226460.4	+	3	484	c.388C>T	c.(388-390)Cct>Tct	p.P130S		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	130	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TCCTGCCCTCCCTACTCCTGC	0.493000													5	23					0	0	0.001168	0	0
C16orf45	89927	broad.mit.edu	37	16	15528612	15528612	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:15528612G>A	ENST00000300006.4	+	1	461	c.102G>A	c.(100-102)ggG>ggA	p.G34G	C16orf45_ENST00000566490.1_Silent_p.G34G|RP11-1021N1.1_ENST00000568222.1_3'UTR	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	34				MELKQSLSTHLEAEKPLRRYGAVEETAWKTERLGRN -> M WGDLTETGCMGRRSAKKD (in Ref. 3; AAH23603).						endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						AGAGACTGGGGAGAAGTGAGT	0.652000													14	37					0	0	0.003163	0	0
SCN3A	6328	broad.mit.edu	37	2	165947098	165947098	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:165947098G>A	ENST00000360093.3	-	28	6056	c.5565C>T	c.(5563-5565)gcC>gcT	p.A1855A	SCN3A_ENST00000409101.3_Silent_p.A1806A|SCN3A_ENST00000540861.1_Silent_p.A338A|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Silent_p.A1855A	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1855						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)	GCTTTGTAAAGGCAAATAAAA	0.458000													25	29					0	0	0.003954	0	0
MED12L	116931	broad.mit.edu	37	3	151073805	151073805	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:151073805G>A	ENST00000474524.1	+	17	2572	c.2534G>A	c.(2533-2535)gGa>gAa	p.G845E	MED12L_ENST00000491549.1_3'UTR|P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.G705E	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	845					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AACATCAACGGACTAATTGAC	0.428000													12	27					0	0	0.013537	0	0
TEX15	56154	broad.mit.edu	37	8	30694351	30694351	+	Missense_Mutation	SNP	C	C	T	rs112222282	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:30694351C>T	ENST00000256246.2	-	3	8374	c.8300G>A	c.(8299-8301)cGa>cAa	p.R2767Q		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2767										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGGCACAAATCGATTAGGAAG	0.378000													17	19					0	0	0.008871	0	0
CLCNKA	1187	broad.mit.edu	37	1	16355340	16355340	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:16355340G>A	ENST00000375692.1	+	12	1181	c.1053_splice	c.e12+1	p.R351_splice	CLCNKA_ENST00000331433.4_Splice_Site_p.R351_splice|CLCNKA_ENST00000439316.2_Splice_Site_p.R308_splice|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Splice_Site_p.R351_splice			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	351					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)	TAGCTTCTCGGGTAAGGGGTC	0.617000													30	48					0	0	0.003271	0	0
FAM129A	116496	broad.mit.edu	37	1	184764240	184764240	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:184764240G>A	ENST00000367511.3	-	14	2851	c.2658C>T	c.(2656-2658)gcC>gcT	p.A886A	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	886					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CATGAATACGGGCTACCTTGA	0.562000													41	75					0	0	0.008740	0	0
GRXCR2	643226	broad.mit.edu	37	5	145246183	145246183	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:145246183C>T	ENST00000377976.1	-	2	444	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	149										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GCCTCCTCTTCCTTCTGGAGA	0.418000													14	43					0	0	0.002450	0	0
IL1A	3552	broad.mit.edu	37	2	113537166	113537166	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:113537166C>T	ENST00000263339.3	-	5	552	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	133					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			breast(2)|large_intestine(1)|lung(9)	12						AGGATGAATTCGTATTTGATG	0.403000													12	35					0	0	0.013537	0	0
AKAP7	9465	broad.mit.edu	37	6	131466437	131466437	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:131466437C>T	ENST00000431975.2	+	2	130	c.32C>T	c.(31-33)tCc>tTc	p.S11F	AKAP7_ENST00000366358.2_3'UTR|AKAP7_ENST00000541650.1_Missense_Mutation_p.S10F	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	0	Required for membrane localization.				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)		GGAATTAATTCCAATGAGTGT	0.303000													9	13					0	0	0.004482	0	0
PPM1F	9647	broad.mit.edu	37	22	22285612	22285612	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:22285612G>A	ENST00000407142.1	-	4	1355	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L	PPM1F_ENST00000263212.5_Silent_p.L267L|PPM1F_ENST00000538191.1_Silent_p.L163L|PPM1F_ENST00000397495.4_Silent_p.L267L			P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	267					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		GCGACGTGCAGGGTCGCTCCT	0.622000													24	43					0	0	0.005443	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136307852	136307852	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:136307852C>T	ENST00000371929.3	+	18	2666	c.2222C>T	c.(2221-2223)cCc>cTc	p.P741L	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.P741L|ADAMTS13_ENST00000536611.1_Intron|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.P710L	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	741					cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GTGCTCGAACCCTGCCCTCCC	0.662000													6	27					0	0	0.001984	0	0
CD1C	911	broad.mit.edu	37	1	158263016	158263016	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158263016A>G	ENST00000368170.3	+	5	1183	c.904A>G	c.(904-906)Atg>Gtg	p.M302V		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	302					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CCACTTTTCCATGAATTGGAT	0.378000													48	122					0	0	0.014410	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83400549	83400549	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:83400549C>T	ENST00000262752.2	-	6	445	c.438G>A	c.(436-438)ggG>ggA	p.G146G	RPS6KA6_ENST00000543399.1_Silent_p.G146G	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	146	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AGTACAGTTTCCCTTCAGTCT	0.289000													7	5					0	0	0.001984	0	0
SLC14A2	8170	broad.mit.edu	37	18	43204774	43204774	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:43204774G>A	ENST00000255226.6	+	2	961	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	SLC14A2_ENST00000586448.1_Missense_Mutation_p.E49K	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	49						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AATGCCTGAAGAAAAGGTGAG	0.557000													14	34					0	0	0.004990	0	0
MMP13	4322	broad.mit.edu	37	11	102819836	102819836	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:102819836C>T	ENST00000260302.3	-	7	997	c.969G>A	c.(967-969)acG>acA	p.T323T	MMP13_ENST00000340273.4_Silent_p.T323T	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	323	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		AAAATGATTTCGTTAAAAACA	0.423000													13	29					0	0	0.013537	0	0
DNAH9	1770	broad.mit.edu	37	17	11666923	11666923	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:11666923C>T	ENST00000262442.3	+	36	7230	c.7162C>T	c.(7162-7164)Caa>Taa	p.Q2388*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.Q2388*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2388					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGCAATGGTCCAAGATCAGGT	0.463000													10	14					0	0	0.006214	0	0
COL14A1	7373	broad.mit.edu	37	8	121209076	121209076	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:121209076C>T	ENST00000297848.3	+	6	753	c.483C>T	c.(481-483)atC>atT	p.I161I	COL14A1_ENST00000537875.1_Silent_p.I161I|COL14A1_ENST00000247781.3_Silent_p.I161I|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.I161I	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	161	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACATTGTAATCCTGGTCGATG	0.428000													29	67					0	0	0.009535	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711558	155711558	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:155711558C>T	ENST00000295101.2	+	3	1716	c.1239C>T	c.(1237-1239)ccC>ccT	p.P413P	KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	413					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AAGACTTTCCCAAAAAACTCT	0.388000													24	60					0	0	0.014323	0	0
TFR2	7036	broad.mit.edu	37	7	100238703	100238703	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100238703G>A	ENST00000462107.1	-	3	469	c.182C>T	c.(181-183)cCc>cTc	p.P61L	TFR2_ENST00000223051.3_Missense_Mutation_p.P61L|TFR2_ENST00000431692.1_Missense_Mutation_p.P61L			Q9UP52	TFR2_HUMAN	transferrin receptor 2	61					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AGAGCCCAGGGGCTCAGGGCC	0.677000													9	11					0	0	0.004482	0	0
TKTL1	8277	broad.mit.edu	37	X	153556195	153556195	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:153556195C>T	ENST00000369915.3	+	12	1698	c.1509C>T	c.(1507-1509)atC>atT	p.I503I	TKTL1_ENST00000369912.2_Silent_p.I447I|TKTL1_ENST00000217905.7_Silent_p.I243I|TKTL1_ENST00000482044.1_3'UTR	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	503					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATATTTTTATCCGTGTCATCG	0.453000													68	40					0	0	0.014410	0	0
MRAP2	112609	broad.mit.edu	37	6	84799011	84799011	+	Silent	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:84799011A>G	ENST00000257776.4	+	4	564	c.429A>G	c.(427-429)caA>caG	p.Q143Q		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	143					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						GTGACGTCCAACTCCAGGAAG	0.522000													19	57					0	0	0.007413	0	0
ERC2	26059	broad.mit.edu	37	3	56330247	56330247	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:56330247C>T	ENST00000288221.6	-	3	1129	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	292						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTCTGCGTTTCAATTCTCAGC	0.468000													46	326					0	0	0.014410	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49687790	49687790	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:49687790C>T	ENST00000249601.4	-	4	636	c.340G>A	c.(340-342)Gag>Aag	p.E114K	ARHGAP22_ENST00000374170.1_Missense_Mutation_p.E24K|ARHGAP22_ENST00000374172.1_5'UTR|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.E120K|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.E24K|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.E114K	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	114	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGCACCTTCTCCCGCTCCCCG	0.677000													6	8					0	0	0.001168	0	0
AMPD3	272	broad.mit.edu	37	11	10506453	10506453	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:10506453G>A	ENST00000444303.2	+	4	671	c.199G>A	c.(199-201)Ggg>Agg	p.G67R	AMPD3_ENST00000396554.3_Missense_Mutation_p.G235R	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	226					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CCACATGCAGGGGGGCATCCT	0.572000													43	48					0	0	0.014410	0	0
BLNK	29760	broad.mit.edu	37	10	97976457	97976457	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:97976457C>T	ENST00000224337.5	-	7	700	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	BLNK_ENST00000371176.2_Missense_Mutation_p.E187K|BLNK_ENST00000413476.2_Missense_Mutation_p.E187K|BLNK_ENST00000427367.2_Missense_Mutation_p.E187K	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	187	Pro-rich.				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)		ATATAGTTTTCATCATTATCT	0.398000													7	15					0	0	0.003080	0	0
LTBP2	4053	broad.mit.edu	37	14	75017968	75017968	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:75017968C>T	ENST00000261978.4	-	7	1871	c.1485G>A	c.(1483-1485)cgG>cgA	p.R495R	LTBP2_ENST00000557425.1_5'UTR|LTBP2_ENST00000556690.1_Silent_p.R495R	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	495					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CCACCCCGCCCCGCACCTGGG	0.682000													10	5					0	0	0.008291	0	0
TRABD2A	129293	broad.mit.edu	37	2	85097394	85097394	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:85097394C>T	ENST00000335459.5	-	2	829	c.624G>A	c.(622-624)aaG>aaA	p.K208K	TRABD2A_ENST00000409133.1_Silent_p.K208K|TRABD2A_ENST00000409520.2_Silent_p.K208K	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		GCTCTTCCACCTTTTCCACTG	0.488000													40	146					0	0	0.014410	0	0
SYNJ2	8871	broad.mit.edu	37	6	158514020	158514020	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:158514020G>A	ENST00000355585.4	+	26	3703	c.3628G>A	c.(3628-3630)Gag>Aag	p.E1210K	SYNJ2_ENST00000367112.1_Missense_Mutation_p.E295K|SYNJ2_ENST00000367122.2_Missense_Mutation_p.E1165K|SYNJ2_ENST00000367121.3_Missense_Mutation_p.E1210K	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1210	Pro-rich.						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)		CTCTGAACCAGAGCCCACACC	0.597000													11	45					0	0	0.008291	0	0
ZNF516	9658	broad.mit.edu	37	18	74091392	74091392	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:74091392C>T	ENST00000443185.2	-	4	2995	c.2678G>A	c.(2677-2679)gGc>gAc	p.G893D	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	893					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TGGCTCCTGGCCGTGACAAGG	0.682000													29	40					0	0	0.008361	0	0
GJA1	2697	broad.mit.edu	37	6	121768626	121768626	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:121768626C>T	ENST00000282561.3	+	2	790	c.633C>T	c.(631-633)atC>atT	p.I211I		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	211					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TCTTCATCATCTTCATGCTGG	0.483000													48	81					0	0	0.014410	0	0
CDC14B	8555	broad.mit.edu	37	9	99286000	99286000	+	Silent	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:99286000A>T	ENST00000375241.1	-	10	1405	c.954T>A	c.(952-954)ctT>ctA	p.L318L	CDC14B_ENST00000265659.2_Silent_p.L318L|CDC14B_ENST00000375240.3_Silent_p.L318L|CDC14B_ENST00000375236.1_Silent_p.L318L|CDC14B_ENST00000463569.1_Silent_p.L318L|CDC14B_ENST00000375242.3_Silent_p.L281L	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	318	B.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				CCGTGCGACCAAGGCCAGCTA	0.493000													4	19					0	0	0.000602	0	0
C9orf152	401546	broad.mit.edu	37	9	112963499	112963499	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:112963499C>T	ENST00000400613.4	-	2	1058	c.449G>A	c.(448-450)aGg>aAg	p.R150K	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	150										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						AGGAGGGAGCCTTTGATCAGA	0.542000													23	116					0	0	0.004656	0	0
UGT1A10	54575	broad.mit.edu	37	2	234546024	234546024	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:234546024G>A	ENST00000344644.5	+	1	924		c.e1+1		UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Splice_Site	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATTGCCTATGGTAAGTCACCT	0.403000													37	60					0	0	0.006999	0	0
LIPG	9388	broad.mit.edu	37	18	47110052	47110052	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:47110052G>A	ENST00000261292.4	+	8	1562	c.1284G>A	c.(1282-1284)aaG>aaA	p.K428K	LIPG_ENST00000427224.2_Silent_p.K354K	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	428	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						ACCTGTGGAAGGAGTTTCGCA	0.587000													8	28					0	0	0.003080	0	0
DRC1	92749	broad.mit.edu	37	2	26676293	26676293	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:26676293G>A	ENST00000288710.2	+	14	1869	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		gggagaaaaggaagaaagcct	0.582000													15	29					0	0	0.002450	0	0
KSR2	283455	broad.mit.edu	37	12	117914306	117914306	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:117914306G>A	ENST00000425217.1	-	17	2512	c.2458C>T	c.(2458-2460)Ctc>Ttc	p.L820F	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.L849F	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	849	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAGAAGGGGAGCTTATCCTCC	0.612000													10	5					0	0	0.008291	0	0
TNNT1	7138	broad.mit.edu	37	19	55649424	55649424	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55649424C>T	ENST00000588981.1	-	10	610	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	TNNT1_ENST00000585321.2_Missense_Mutation_p.E66K|TNNT1_ENST00000356783.5_Missense_Mutation_p.E125K|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000291901.8_Missense_Mutation_p.E136K|TNNT1_ENST00000536926.1_Missense_Mutation_p.E125K|TNNT1_ENST00000587758.1_Missense_Mutation_p.E125K|TNNT1_ENST00000587465.2_Missense_Mutation_p.E66K|TNNT1_ENST00000588426.1_Missense_Mutation_p.E33K	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	136					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		TCTTCCTCTTCCTTCCTCATC	0.567000													14	50					0	0	0.004007	0	0
CES5A	221223	broad.mit.edu	37	16	55880749	55880749	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:55880749C>T	ENST00000521992.1	-	13	1659	c.1514G>A	c.(1513-1515)gGa>gAa	p.G505E	CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000520435.1_Missense_Mutation_p.G446E|CES5A_ENST00000518005.1_Missense_Mutation_p.G370E|CES5A_ENST00000319165.9_Missense_Mutation_p.G426E|CES5A_ENST00000290567.9_Missense_Mutation_p.G476E	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	476						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTCCGTGGCTCCTTCTGAAGG	0.537000													56	70					0	0	0.014410	0	0
RABEP2	79874	broad.mit.edu	37	16	28925752	28925752	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:28925752G>A	ENST00000358201.4	-	5	1287	c.699C>T	c.(697-699)tcC>tcT	p.S233S	RABEP2_ENST00000544477.1_Silent_p.S162S|RABEP2_ENST00000357573.6_Silent_p.S233S	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	233					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						AGGAGGAGATGGAGGCGCTGT	0.687000													12	16					0	0	0.013537	0	0
CALCR	799	broad.mit.edu	37	7	93108777	93108777	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:93108777G>A	ENST00000359558.2	-	5	447	c.148C>T	c.(148-150)Cca>Tca	p.P50S	CALCR_ENST00000394441.1_Missense_Mutation_p.P32S|CALCR_ENST00000421592.1_Missense_Mutation_p.P32S|CALCR_ENST00000360249.4_Missense_Mutation_p.P32S|CALCR_ENST00000426151.1_Missense_Mutation_p.P32S	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	32					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TCTATTGTTGGATAGGTTTGA	0.413000													33	68					0	0	0.010818	0	0
CLDN25	644672	broad.mit.edu	37	11	113650664	113650664	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:113650664G>A	ENST00000453129.2	+	1	196	c.147G>A	c.(145-147)ggG>ggA	p.G49G		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	49						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						GGATCATGGGGATTTGGGAGG	0.567000													22	54					0	0	0.014323	0	0
GTF3C2	2976	broad.mit.edu	37	2	27560827	27560827	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:27560827G>A	ENST00000359541.2	-	5	1345	c.916C>T	c.(916-918)Cct>Tct	p.P306S	AC109828.1_ENST00000589853.1_RNA|AC109828.1_ENST00000589232.1_RNA|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000587586.1_RNA|AC109828.1_ENST00000590383.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.P306S			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	306						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCAAACAGGAGCCATGATA	0.483000													101	165					0	0	0.014410	0	0
UCKL1	54963	broad.mit.edu	37	20	62571990	62571990	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:62571990C>T	ENST00000369908.5	-	12	1513	c.1214G>A	c.(1213-1215)gGc>gAc	p.G405D	UCKL1_ENST00000354216.6_Missense_Mutation_p.G420D|UCKL1_ENST00000358711.3_3'UTR|UCKL1_ENST00000369892.3_Missense_Mutation_p.G420D	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	420					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GAGGATGGTGCCGATGCGCAC	0.677000													10	16					0	0	0.006214	0	0
SV2C	22987	broad.mit.edu	37	5	75596681	75596681	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:75596681G>A	ENST00000502798.2	+	11	2206	c.1764G>A	c.(1762-1764)ctG>ctA	p.L588L	RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Silent_p.L588L	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	588					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCAACTTTCTGGGGACATTGG	0.408000													27	42					0	0	0.004656	0	0
ROR1	4919	broad.mit.edu	37	1	64624850	64624850	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:64624850C>T	ENST00000371079.1	+	8	1736	c.1361C>T	c.(1360-1362)tCa>tTa	p.S454L	RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000545203.1_5'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	454					transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						GTAGAGATGTCAATGCTGAAT	0.448000													19	35					0	0	0.010504	0	0
COL19A1	1310	broad.mit.edu	37	6	70840075	70840075	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:70840075G>A	ENST00000322773.4	+	18	1445	c.1341_splice	c.e18-1	p.G448_splice	COL19A1_ENST00000393344.1_Splice_Site_p.G70_splice	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	448	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CACCCCTAGGGAAATGATGAA	0.363000													6	11					0	0	0.001984	0	0
SPTB	6710	broad.mit.edu	37	14	65249076	65249076	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:65249076C>T	ENST00000389722.3	-	19	4251	c.4198G>A	c.(4198-4200)Gac>Aac	p.D1400N	SPTB_ENST00000542895.1_Missense_Mutation_p.D1400N|SPTB_ENST00000389720.3_Missense_Mutation_p.D1400N|SPTB_ENST00000389721.5_Missense_Mutation_p.D1400N|SPTB_ENST00000556626.1_Missense_Mutation_p.D1400N	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1400					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CGCAGCTGGTCCTCCATGGCG	0.587000													40	45					0	0	0.008740	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48523091	48523091	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:48523091G>A	ENST00000339841.2	+	5	649	c.471G>A	c.(469-471)gaG>gaA	p.E157E	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	157	Fibronectin type-II 3.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		CAACCACAGAGAACATGGATA	0.502000													15	30					0	0	0.006122	0	0
LYST	1130	broad.mit.edu	37	1	235972605	235972605	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:235972605C>T	ENST00000389794.3	-	5	1687	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	LYST_ENST00000536965.1_Missense_Mutation_p.E505K|LYST_ENST00000389793.2_Missense_Mutation_p.E505K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	505					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGAGAATATTCACATCGTCTG	0.373000													22	55					0	0	0.003330	0	0
STK36	27148	broad.mit.edu	37	2	219561890	219561890	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:219561890C>T	ENST00000295709.3	+	23	2994	c.2715C>T	c.(2713-2715)tcC>tcT	p.S905S	STK36_ENST00000392106.2_Silent_p.S884S|STK36_ENST00000392105.3_Silent_p.S884S|STK36_ENST00000440309.1_Silent_p.S905S	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	905					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	p.S905S(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TTTCGCTATCCAGTCCACCAA	0.527000													25	91					0	0	0.003954	0	0
NCAN	1463	broad.mit.edu	37	19	19327836	19327836	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:19327836G>A	ENST00000252575.5	+	2	116		c.e2+1			NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan						axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GGGGAACAGGGTGAGTTGGTT	0.567000													37	82					0	0	0.004289	0	0
CSMD2	114784	broad.mit.edu	37	1	34312485	34312485	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:34312485C>T	ENST00000373381.4	-	6	1209	c.1033_splice	c.e6+1	p.V345_splice		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	305	Sushi 2.					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)				ACCTGCCTACCTTGGTATTGG	0.612000													14	44					0	0	0.003163	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72520494	72520494	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:72520494G>A	ENST00000373208.1	+	22	3566	c.3566G>A	c.(3565-3567)gGg>gAg	p.G1189E	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.G1186E	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1186	Pro-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ACCCCCGGGGGGCTGCCTTGG	0.642000													8	25					0	0	0.004482	0	0
TST	7263	broad.mit.edu	37	22	37407092	37407092	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:37407092G>A	ENST00000403892.3	-	2	1604	c.870C>T	c.(868-870)tcC>tcT	p.S290S	TST_ENST00000249042.3_Silent_p.S290S	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	290					cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						ACTTTCCCTGGGACACACGGC	0.602000													24	58					0	0	0.010818	0	0
ASXL3	80816	broad.mit.edu	37	18	31325888	31325888	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:31325888C>T	ENST00000269197.5	+	12	6076	c.6076C>T	c.(6076-6078)Cct>Tct	p.P2026S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2026	Pro-rich.				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						tccccctccccctccaccctt	0.592000													3	3					0	0	0.004672	0	0
FBXL12	54850	broad.mit.edu	37	19	9922366	9922366	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9922366G>A	ENST00000247977.4	-	3	428	c.187C>T	c.(187-189)Ctt>Ttt	p.L63F	FBXL12_ENST00000586469.1_Silent_p.S38S|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000591009.1_Missense_Mutation_p.L10F|FBXL12_ENST00000585379.1_Missense_Mutation_p.L10F|FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000592067.1_3'UTR|FBXL12_ENST00000586651.1_3'UTR	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	63			L -> H (found in a renal cell carcinoma case; somatic mutation).				protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						TACCTTCGAAGGAGGTGCCAC	0.592000													15	25					0	0	0.002450	0	0
TRPM1	4308	broad.mit.edu	37	15	31294043	31294043	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:31294043G>A	ENST00000542188.1	-	27	5224	c.4911C>T	c.(4909-4911)tcC>tcT	p.S1637S	TRPM1_ENST00000256552.6_Silent_p.S1620S|TRPM1_ENST00000397795.2_Silent_p.S1598S	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1598					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CAGTTTCTGTGGAAGCTTTCT	0.358000													6	17					0	0	0.001168	0	0
FMO1	2326	broad.mit.edu	37	1	171227251	171227251	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:171227251G>A	ENST00000354841.4	+	1	156	c.25G>A	c.(25-27)Gga>Aga	p.G9R	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.G9R|FMO1_ENST00000367750.3_Missense_Mutation_p.G9R			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	9					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGCCATTGTGGGAGCTGGGGT	0.577000													33	43					0	0	0.009535	0	0
KCNG1	3755	broad.mit.edu	37	20	49620806	49620806	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:49620806G>A	ENST00000371571.4	-	3	1597	c.1312C>T	c.(1312-1314)Cag>Tag	p.Q438*	RP5-955M13.3_ENST00000506387.1_RNA|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	438						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCCACTACCTGGCCCGGGGTG	0.632000													19	49					0	0	0.002780	0	0
UNC79	57578	broad.mit.edu	37	14	93994983	93994983	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:93994983G>A	ENST00000553484.1	+	9	1197	c.1043G>A	c.(1042-1044)aGg>aAg	p.R348K	UNC79_ENST00000555664.1_Missense_Mutation_p.R348K|UNC79_ENST00000393151.2_Missense_Mutation_p.R348K|UNC79_ENST00000256339.4_Missense_Mutation_p.R171K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	348						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGCAGCGAGAGGATTGCAGGG	0.378000													15	28					0	0	0.004007	0	0
EMB	133418	broad.mit.edu	37	5	49701599	49701599	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:49701599G>A	ENST00000303221.5	-	5	775	c.560C>T	c.(559-561)cCt>cTt	p.P187L	EMB_ENST00000514111.1_Missense_Mutation_p.P137L|EMB_ENST00000508934.1_Missense_Mutation_p.P133L|EMB_ENST00000506190.1_5'UTR	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	187	Ig-like V-type 2.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				CCAATTTAAAGGAAAACAATT	0.328000													14	23					0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179584851	179584851	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179584851C>T	ENST00000589042.1	-	81	23742	c.23518G>A	c.(23518-23520)Gaa>Aaa	p.E7840K	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E6596K|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E7523K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7523	Ig-like 60.						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)			CTGGTATTTTCACTCTCTCTG	0.433000													27	39					0	0	0.009535	0	0
IRF5	3663	broad.mit.edu	37	7	128588051	128588051	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:128588051C>T	ENST00000402030.2	+	7	1080	c.1008C>T	c.(1006-1008)gcC>gcT	p.A336A	IRF5_ENST00000477535.1_Silent_p.A250A|IRF5_ENST00000357234.5_Silent_p.A352A|IRF5_ENST00000249375.4_Silent_p.A336A|IRF5_ENST00000473745.1_Silent_p.A336A	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	336					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						ACCTTTATGCCATCCGCCTGT	0.602000													6	71					0	0	0.001984	0	0
OLFM3	118427	broad.mit.edu	37	1	102269929	102269929	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:102269929G>A	ENST00000370103.4	-	6	1455	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000338858.5_Silent_p.F434F|OLFM3_ENST00000536598.1_3'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	434	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		ATTGGTTATGGAAGGGAATGT	0.458000													57	82					0	0	0.014410	0	0
KIF14	9928	broad.mit.edu	37	1	200562861	200562861	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:200562861G>A	ENST00000367350.4	-	15	3024	c.2586C>T	c.(2584-2586)atC>atT	p.I862I		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	862	FHA.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CCCCAACTGGGATAATACTCA	0.318000													26	83					0	0	0.010818	0	0
SLC17A6	57084	broad.mit.edu	37	11	22381008	22381008	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:22381008C>T	ENST00000263160.3	+	4	945	c.508C>T	c.(508-510)Cca>Tca	p.P170S		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	170					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TATGCTAATTCCATCAGCAGC	0.388000													24	46					0	0	0.006320	0	0
ZNF221	7638	broad.mit.edu	37	19	44466927	44466927	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:44466927C>T	ENST00000251269.5	+	3	377	c.49C>T	c.(49-51)Cct>Tct	p.P17S	ZNF221_ENST00000592350.1_Missense_Mutation_p.P17S|ZNF221_ENST00000587682.1_Missense_Mutation_p.P17S	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				CTGCAAATTCCCTGAAGTAGA	0.403000													4	41					0	0	0.001168	0	0
FCGBP	8857	broad.mit.edu	37	19	40396021	40396021	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:40396021G>A	ENST00000221347.6	-	15	7383	c.7376C>T	c.(7375-7377)cCc>cTc	p.P2459L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2459	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGTGTAGTGGGGATCTCCCGA	0.677000													5	56					0	0	0.000602	0	0
TRHDE	29953	broad.mit.edu	37	12	72893403	72893403	+	Silent	SNP	C	C	T	rs138225464		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:72893403C>T	ENST00000261180.4	+	6	1671	c.1575C>T	c.(1573-1575)atC>atT	p.I525I		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	525					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTGACTGGATCGCATATAAAA	0.388000													21	12					0	0	0.002780	0	0
CFHR5	81494	broad.mit.edu	37	1	196952085	196952085	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:196952085C>T	ENST00000367414.5	+	2	257	c.201C>T	c.(199-201)tcC>tcT	p.S67S	CFHR5_ENST00000256785.4_Silent_p.S43S	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	43	Sushi 1.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ACCCTTTTTCCCAAGTTCCTA	0.348000													23	49					0	0	0.014323	0	0
OR4D6	219983	broad.mit.edu	37	11	59224646	59224646	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:59224646C>T	ENST00000300127.2	+	1	236	c.213C>T	c.(211-213)atC>atT	p.I71I		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I71I(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TCCTGGACATCGTTTTTTCAT	0.463000													34	50					0	0	0.013726	0	0
CYP21A2	1589	broad.mit.edu	37	6	32007948	32007948	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:32007948C>T	ENST00000418967.2	+	7	1063	c.905C>T	c.(904-906)tCc>tTc	p.S302F	CYP21A2_ENST00000435122.2_Missense_Mutation_p.S272F	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	301					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						AACACCCTCTCCTGGGCCGTG	0.617000													123	244					0	0	0.014410	0	0
NFKBID	84807	broad.mit.edu	37	19	36388565	36388565	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:36388565G>A	ENST00000352614.2	-	4	449	c.450C>T	c.(448-450)ccC>ccT	p.P150P	NFKBID_ENST00000606253.1_5'UTR|NFKBID_ENST00000396901.1_5'UTR			Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	294					inflammatory response	nucleus				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						CCATGCCCTGGGGAAATGGGC	0.562000													36	97					0	0	0.008740	0	0
LRRC32	2615	broad.mit.edu	37	11	76370954	76370954	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:76370954G>A	ENST00000407242.2	-	3	1925	c.1683C>T	c.(1681-1683)acC>acT	p.T561T	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Silent_p.T561T|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Silent_p.T561T	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	561						integral to plasma membrane		p.T561T(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GCCGGAGGCTGGTCTCCAGGC	0.662000													19	20					0	0	0.006122	0	0
PCSK5	5125	broad.mit.edu	37	9	78936388	78936388	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:78936388G>A	ENST00000545128.1	+	30	4392	c.3854G>A	c.(3853-3855)aGa>aAa	p.R1285K		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	694					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TCTCCTTGCAGAACATGTGAA	0.557000													22	44					0	0	0.002780	0	0
BMS1	9790	broad.mit.edu	37	10	43315783	43315783	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:43315783C>T	ENST00000374518.4	+	16	2743	c.2680C>T	c.(2680-2682)Ccc>Tcc	p.P894S		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	894					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGAAAATGTTCCCTGTGAATT	0.488000													5	62					0	0	0.000602	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175833	140175833	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140175833G>A	ENST00000526136.1	+	1	1284	c.1284G>A	c.(1282-1284)cgG>cgA	p.R428R	PCDHA2_ENST00000378132.1_Silent_p.R428R|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.R428R|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACCGCACGGGACGGGGGCT	0.632000													15	47					0	0	0.006122	0	0
PTPRD	5789	broad.mit.edu	37	9	8341167	8341167	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:8341167G>A	ENST00000381196.4	-	38	5592	c.5049C>T	c.(5047-5049)tcC>tcT	p.S1683S	PTPRD_ENST00000358503.5_Silent_p.S1661S|PTPRD_ENST00000486161.1_Silent_p.S1276S|PTPRD_ENST00000356435.5_Silent_p.S1683S|PTPRD_ENST00000397617.3_Silent_p.S1276S|PTPRD_ENST00000397606.3_Silent_p.S1276S|PTPRD_ENST00000397611.3_Silent_p.S1273S|PTPRD_ENST00000355233.5_Silent_p.S1277S|PTPRD_ENST00000537002.1_Silent_p.S1273S|PTPRD_ENST00000540109.1_Silent_p.S1683S|PTPRD_ENST00000360074.4_Silent_p.S1670S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1683	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATACCCTTGTGGATTCATATG	0.413000										TSP Lung(15;0.13)			31	120					0	0	0.013726	0	0
LPHN2	23266	broad.mit.edu	37	1	82436123	82436123	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:82436123G>A	ENST00000370728.1	+	18	3492	c.2847G>A	c.(2845-2847)agG>agA	p.R949R	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Silent_p.R936R|LPHN2_ENST00000359929.3_Silent_p.R936R|LPHN2_ENST00000370725.1_Silent_p.R949R|LPHN2_ENST00000370721.1_Silent_p.R874R|LPHN2_ENST00000319517.6_Silent_p.R936R|LPHN2_ENST00000370730.1_Silent_p.R949R|LPHN2_ENST00000370713.1_Silent_p.R936R|LPHN2_ENST00000335786.5_Silent_p.R949R|LPHN2_ENST00000370715.1_Silent_p.R936R|LPHN2_ENST00000370717.2_Silent_p.R949R|LPHN2_ENST00000370723.1_Silent_p.R936R|LPHN2_ENST00000271029.4_Silent_p.R949R|LPHN2_ENST00000370727.1_Silent_p.R949R			O95490	LPHN2_HUMAN	latrophilin 2	949					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AATATTCAAGGAAAAAATATT	0.378000													27	61					0	0	0.004656	0	0
THRB	7068	broad.mit.edu	37	3	24231761	24231761	+	Silent	SNP	T	T	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:24231761T>G	ENST00000396671.2	-	5	435	c.87A>C	c.(85-87)ctA>ctC	p.L29L	THRB_ENST00000416420.1_Silent_p.L29L|THRB_ENST00000356447.4_Silent_p.L29L	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	29	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	ACATTCCTACTAGCTTCCAGT	0.498000													27	70					0	0	0.007291	0	0
OBSL1	23363	broad.mit.edu	37	2	220422727	220422727	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:220422727G>A	ENST00000404537.1	-	11	3664	c.3608C>T	c.(3607-3609)cCc>cTc	p.P1203L	OBSL1_ENST00000373876.1_Missense_Mutation_p.P1203L|OBSL1_ENST00000603926.1_Missense_Mutation_p.P1203L|OBSL1_ENST00000265317.5_Missense_Mutation_p.P194L|OBSL1_ENST00000265318.4_Missense_Mutation_p.P1111L	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1203	Ig-like 10.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCAGACCACGGGGGCGCCAGC	0.682000													10	15					0	0	0.006214	0	0
A1CF	29974	broad.mit.edu	37	10	52573619	52573619	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:52573619G>A	ENST00000395489.2	-	12	1720	c.1324C>T	c.(1324-1326)Cag>Tag	p.Q442*	A1CF_ENST00000374001.1_Nonsense_Mutation_p.Q441*|A1CF_ENST00000373993.1_Nonsense_Mutation_p.Q449*|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395495.1_Nonsense_Mutation_p.Q394*|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373997.3_Nonsense_Mutation_p.Q441*|A1CF_ENST00000282641.2_Nonsense_Mutation_p.Q449*|A1CF_ENST00000373995.3_Nonsense_Mutation_p.Q449*	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	449					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTACCTACCTGGGGAGCGAGT	0.388000													17	48					0	0	0.007413	0	0
ATP13A5	344905	broad.mit.edu	37	3	193036815	193036815	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:193036815C>T	ENST00000342358.4	-	17	2115	c.1998G>A	c.(1996-1998)aaG>aaA	p.K666K		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	666					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GATTCCCCATCTTTAAGGTTT	0.498000													29	89					0	0	0.010818	0	0
ZG16B	124220	broad.mit.edu	37	16	2882116	2882116	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:2882116C>T	ENST00000382280.3	+	4	662	c.583C>T	c.(583-585)Cca>Tca	p.P195S	ZG16B_ENST00000572863.1_Missense_Mutation_p.P165S	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	195						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CACTGAGCCACCAGTTAATCT	0.552000													38	44					0	0	0.006230	0	0
PRRT1	80863	broad.mit.edu	37	6	32119621	32119621	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:32119621G>A	ENST00000375150.2	-	3	248	c.64C>T	c.(64-66)Cca>Tca	p.P22S	PRRT1_ENST00000211413.5_5'UTR|PRRT1_ENST00000375152.2_Missense_Mutation_p.P22S			Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	105					response to biotic stimulus	integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GGTCTCGCTGGGACAGGGTCC	0.627000													94	183					0	0	0.014410	0	0
ZNF98	148198	broad.mit.edu	37	19	22574613	22574613	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:22574613G>A	ENST00000357774.5	-	4	1545	c.1424C>T	c.(1423-1425)tCa>tTa	p.S475L		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				AGAAAGAGTTGAGGACTGGTT	0.373000													12	18					0	0	0.004007	0	0
MALAT1	378938	broad.mit.edu	37	11	65266490	65266490	+	RNA	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:65266490A>G	ENST00000534336.1	+	0	1258					NR_002819.2																						TCCGTCTATAAATACGCCTCG	0.537000													28	74					0	0	0.012213	0	0
GK2	2712	broad.mit.edu	37	4	80329209	80329209	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:80329209T>C	ENST00000358842.3	-	1	163	c.146A>G	c.(145-147)aAa>aGa	p.K49R		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	49					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CCATCCTTCTTTTGGGAACTC	0.418000													31	35					0	0	0.008361	0	0
POU5F1B	5462	broad.mit.edu	37	8	128428154	128428154	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:128428154C>T	ENST00000465342.2	+	2	1200	c.43C>T	c.(43-45)Cca>Tca	p.P15S	CASC8_ENST00000501396.1_RNA|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000502082.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.P15S			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	15						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						CTCGCCCCCTCCAGGCGGTGG	0.642000													6	10					0	0	0.001168	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178541003	178541003	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:178541003G>A	ENST00000251582.7	-	22	3602	c.3501C>T	c.(3499-3501)atC>atT	p.I1167I		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1167					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCAGGCCATGGATTTTGTAGG	0.527000													20	63					0	0	0.008871	0	0
RECK	8434	broad.mit.edu	37	9	36108051	36108051	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:36108051T>C	ENST00000377966.3	+	14	2221	c.1655T>C	c.(1654-1656)gTt>gCt	p.V552A		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	552						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GCAGGGGAAGTTGGTTGTTAT	0.423000													10	48					0	0	0.010729	0	0
MUC16	94025	broad.mit.edu	37	19	9089866	9089866	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9089866G>A	ENST00000397910.4	-	1	2152	c.1949C>T	c.(1948-1950)tCc>tTc	p.S650F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	650	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						TGGAGACACGGAGACTGGGAC	0.552000													42	87					0	0	0.009718	0	0
GPR98	84059	broad.mit.edu	37	5	90136463	90136463	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:90136463G>A	ENST00000405460.2	+	78	16776	c.16680G>A	c.(16678-16680)gtG>gtA	p.V5560V	GPR98_ENST00000425867.2_Silent_p.V1221V	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5560					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)		AGGATTTTGTGATAACTGAAG	0.398000													11	79					0	0	0.013537	0	0
ST18	9705	broad.mit.edu	37	8	53092862	53092862	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:53092862C>T	ENST00000276480.7	-	9	780	c.97G>A	c.(97-99)Gat>Aat	p.D33N		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	33						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ATGGAGCAATCATAGGCAACA	0.418000													22	87					0	0	0.003954	0	0
AGL	178	broad.mit.edu	37	1	100368320	100368320	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:100368320C>T	ENST00000294724.4	+	27	4148	c.3670C>T	c.(3670-3672)Ccc>Tcc	p.P1224S	AGL_ENST00000361915.3_Missense_Mutation_p.P1224S|AGL_ENST00000361302.3_Missense_Mutation_p.P1208S|AGL_ENST00000361522.4_Missense_Mutation_p.P1207S|AGL_ENST00000370165.3_Missense_Mutation_p.P1224S|AGL_ENST00000370161.2_Missense_Mutation_p.P1208S|AGL_ENST00000370163.3_Missense_Mutation_p.P1224S	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1224					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GAATGCTGGTCCCCAGATAGA	0.388000													21	25					0	0	0.010504	0	0
GALNT13	114805	broad.mit.edu	37	2	155099242	155099242	+	Silent	SNP	G	G	A	rs142707218		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:155099242G>A	ENST00000392825.3	+	6	1077	c.510G>A	c.(508-510)gtG>gtA	p.V170V	GALNT13_ENST00000409237.1_Silent_p.V170V	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	170	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AGAATTACGTGAAAAATTTAG	0.353000													8	15					0	0	0.006214	0	0
DIDO1	11083	broad.mit.edu	37	20	61511969	61511969	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:61511969G>A	ENST00000266070.4	-	16	5664	c.5339C>T	c.(5338-5340)cCg>cTg	p.P1780L	DIDO1_ENST00000395343.1_Missense_Mutation_p.P1780L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1780	Pro-rich.				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)					TTCTGGAAACGGAGGGGCTGG	0.627000													23	99					0	0	0.002780	0	0
LYN	4067	broad.mit.edu	37	8	56863069	56863069	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:56863069C>T	ENST00000520220.2	+	5	547	c.273C>T	c.(271-273)ttC>ttT	p.F91F	LYN_ENST00000519728.1_Silent_p.F112F	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	112	SH3.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			AAGAAGGCTTCATCCCCAGCA	0.393000													60	95					0	0	0.014410	0	0
CASZ1	54897	broad.mit.edu	37	1	10720315	10720315	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:10720315C>T	ENST00000377022.3	-	6	1101	c.784G>A	c.(784-786)Gag>Aag	p.E262K	CASZ1_ENST00000344008.5_Missense_Mutation_p.E262K	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		ACCCGCTCCTCGGTCTTGGTG	0.687000													23	31					0	0	0.012319	0	0
IGSF1	3547	broad.mit.edu	37	X	130415215	130415215	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:130415215C>T	ENST00000370904.1	-	15	2506	c.1596G>A	c.(1594-1596)tgG>tgA	p.W532*	IGSF1_ENST00000361420.3_Nonsense_Mutation_p.W541*|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.W541*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.W532*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	541					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCCGACACTTCCACCTTATCC	0.483000													68	32					0	0	0.014410	0	0
BCL11A	53335	broad.mit.edu	37	2	60688386	60688386	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:60688386G>A	ENST00000335712.6	-	4	1888	c.1661C>T	c.(1660-1662)tCc>tTc	p.S554F	BCL11A_ENST00000538214.1_Missense_Mutation_p.S520F|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Missense_Mutation_p.S223F|BCL11A_ENST00000356842.4_Missense_Mutation_p.S554F|BCL11A_ENST00000358510.4_Missense_Mutation_p.S520F	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	554					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.S554F(1)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GTGCTGCATGGAGCTGAGCAC	0.706000			T	IGH@	B-CLL								35	128					0	0	0.007835	0	0
SLC12A8	84561	broad.mit.edu	37	3	124802800	124802800	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:124802800G>A	ENST00000423114.2	-	14	2165	c.2166C>T	c.(2164-2166)ttC>ttT	p.F722F	SLC12A8_ENST00000314584.7_Silent_p.F354F|SLC12A8_ENST00000469902.1_Silent_p.F693F|SLC12A8_ENST00000393469.4_Silent_p.F693F|SLC12A8_ENST00000430155.2_Silent_p.F494F|SLC12A8_ENST00000465475.1_5'UTR			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	693					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						CCCGAGTGGCGAAGTCTGCAT	0.587000													5	8					0	0	0.000602	0	0
SYT17	51760	broad.mit.edu	37	16	19194956	19194956	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:19194956G>A	ENST00000562034.1	+	3	4053	c.255G>A	c.(253-255)cgG>cgA	p.R85R	SYT17_ENST00000562711.2_Silent_p.R142R|SYT17_ENST00000355377.2_Silent_p.R146R|SYT17_ENST00000568115.1_Silent_p.R85R			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	146						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						TGCTCAGACGGACCTATAACC	0.542000													10	48					0	0	0.006214	0	0
SLC35G2	80723	broad.mit.edu	37	3	136574470	136574470	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:136574470G>A	ENST00000446465.2	+	2	1796	c.1168G>A	c.(1168-1170)Ggc>Agc	p.G390S	RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA|SLC35G2_ENST00000393079.3_Missense_Mutation_p.G390S	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN	solute carrier family 35, member G2	390	DUF6 2.					Golgi apparatus|integral to membrane											TGTCCTTGCTGGCTATAAACT	0.373000													25	65					0	0	0.003954	0	0
TEX11	56159	broad.mit.edu	37	X	69871302	69871302	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:69871302C>T	ENST00000395889.2	-	18	1681	c.1526G>A	c.(1525-1527)aGa>aAa	p.R509K	TEX11_ENST00000374333.2_Missense_Mutation_p.R494K|TEX11_ENST00000374320.2_Missense_Mutation_p.R184K|TEX11_ENST00000344304.3_Missense_Mutation_p.R509K	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	509							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					ATTTATACCTCTTTCAGAGTT	0.343000													7	7					0	0	0.003080	0	0
MCTP2	55784	broad.mit.edu	37	15	94884146	94884146	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:94884146A>C	ENST00000357742.4	+	6	962	c.962A>C	c.(961-963)aAg>aCg	p.K321T	MCTP2_ENST00000451018.3_Missense_Mutation_p.K321T|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Missense_Mutation_p.K321T	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	321					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GGTGATTTCAAGAGACACGTA	0.378000													5	13					0	0	0.000602	0	0
MUC16	94025	broad.mit.edu	37	19	9074665	9074665	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9074665G>A	ENST00000397910.4	-	3	12984	c.12781C>T	c.(12781-12783)Cct>Tct	p.P4261S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4263	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						CCTGGGATAGGAGAATATTCA	0.473000													24	58					0	0	0.004656	0	0
TSEN15	116461	broad.mit.edu	37	1	184041968	184041968	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:184041968C>T	ENST00000361641.1	+	5	582	c.503C>T	c.(502-504)tCt>tTt	p.S168F	TSEN15_ENST00000423085.2_Missense_Mutation_p.L121F|TSEN15_ENST00000533373.1_Silent_p.F133F	NM_052965.2	NP_443197.1	Q8WW01	SEN15_HUMAN	TSEN15 tRNA splicing endonuclease subunit	168					mRNA processing|tRNA processing	nucleolus	protein binding	p.S168Y(1)		breast(1)|kidney(3)|large_intestine(2)|lung(2)	8						CAGAATATTTCTCTTAGAAGA	0.308000													9	40					0	0	0.013537	0	0
ST14	6768	broad.mit.edu	37	11	130066489	130066489	+	Silent	SNP	C	C	T	rs138855512		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:130066489C>T	ENST00000278742.5	+	11	1666	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	416	CUB 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GGTCCCAGTTCGTCGTCACCA	0.617000													17	17					0	0	0.006122	0	0
B3GNT3	10331	broad.mit.edu	37	19	17922734	17922734	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:17922734G>A	ENST00000318683.6	+	3	1069	c.922G>A	c.(922-924)Gga>Aga	p.G308R	B3GNT3_ENST00000595387.1_Missense_Mutation_p.G308R	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	308					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GGAGCTTGAGGGACTGAAGCC	0.627000													61	110					0	0	0.014410	0	0
IMPG2	50939	broad.mit.edu	37	3	100962396	100962396	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:100962396G>A	ENST00000193391.7	-	13	2966	c.2779C>T	c.(2779-2781)Ctg>Ttg	p.L927L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	927	SEA 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CTTTGCTCCAGGGCTTTATAC	0.413000													7	20					0	0	0.004482	0	0
SORCS1	114815	broad.mit.edu	37	10	108367054	108367054	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:108367054G>A	ENST00000263054.6	-	23	3042	c.3033_splice	c.e23-1	p.A1012_splice	SORCS1_ENST00000344440.6_Splice_Site_p.A1012_splice|SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000369698.1_Splice_Site_p.A547_splice	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1012						integral to membrane	neuropeptide receptor activity|protein binding			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)		AACCCCTGTGGCCTGAGGGAC	0.572000													5	20					0	0	0.001168	0	0
SZT2	23334	broad.mit.edu	37	1	43890484	43890484	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:43890484C>T	ENST00000562955.1	+	17	2501	c.2501C>T	c.(2500-2502)gCc>gTc	p.A834V	SZT2_ENST00000372442.1_5'UTR	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	834						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTCCACTTCGCCTGCAGTGGG	0.537000													23	57					0	0	0.003954	0	0
CHDH	55349	broad.mit.edu	37	3	53851977	53851977	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:53851977C>T	ENST00000315251.5	-	9	2049	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	538					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CTGAGGTTTTCCACCCCGAGG	0.597000													33	72					0	0	0.003755	0	0
OR10G4	390264	broad.mit.edu	37	11	123887188	123887188	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:123887188G>A	ENST00000320891.4	+	1	907	c.907G>A	c.(907-909)Gac>Aac	p.D303N		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		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;0.0401)		GAAACTTAGAGACAAAGTAGC	0.368000													4	30					0	0	0.000602	0	0
PTPRT	11122	broad.mit.edu	37	20	40980823	40980823	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:40980823C>T	ENST00000373198.3	-	10	1898	c.1663G>A	c.(1663-1665)Ggt>Agt	p.G555S	PTPRT_ENST00000373190.1_Missense_Mutation_p.G555S|PTPRT_ENST00000373184.1_Missense_Mutation_p.G555S|PTPRT_ENST00000356100.2_Missense_Mutation_p.G555S|PTPRT_ENST00000373187.1_Missense_Mutation_p.G555S|PTPRT_ENST00000373193.3_Missense_Mutation_p.G555S|PTPRT_ENST00000373201.1_Missense_Mutation_p.G555S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	555	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGGTACAGACCCACAAAGAGG	0.567000													25	53					0	0	0.003954	0	0
OR6V1	346517	broad.mit.edu	37	7	142749749	142749749	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142749749C>T	ENST00000418316.1	+	1	333	c.312C>T	c.(310-312)tcC>tcT	p.S104S		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	104					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)					TCCACTTTTCCCTGGGGTCCA	0.557000													7	124					0	0	0.003080	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563715	140563715	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140563715C>T	ENST00000361016.2	+	1	2736	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		527	Cadherin 5.				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)			TGCGGGAGTTCGAGTTCCGCG	0.687000													23	54					0	0	0.003330	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914760	94914760	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:94914760C>T	ENST00000334708.3	-	2	416	c.352G>A	c.(352-354)Ggc>Agc	p.G118S	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	118					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CTCCGGAAGCCCTGGTGGATG	0.587000													63	74					0	0	0.014410	0	0
CDC42EP1	11135	broad.mit.edu	37	22	37964701	37964701	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:37964701C>T	ENST00000249014.4	+	3	1470	c.1050C>T	c.(1048-1050)tcC>tcT	p.S350S		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	350					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CCCGGGCCTCCTGGGAGAGCC	0.672000													11	16					0	0	0.008291	0	0
SLC17A6	57084	broad.mit.edu	37	11	22384351	22384351	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:22384351C>T	ENST00000263160.3	+	6	1165	c.728C>T	c.(727-729)tCt>tTt	p.S243F		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	243					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ACTGGCTGGTCTTCAGTGTTT	0.403000													21	53					0	0	0.004656	0	0
SYNGR4	23546	broad.mit.edu	37	19	48878949	48878949	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:48878949C>T	ENST00000344846.2	+	4	661	c.411C>T	c.(409-411)ctC>ctT	p.L137L	SYNGR4_ENST00000601610.1_Silent_p.L88L|SYNGR4_ENST00000595322.1_Intron	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	137	MARVEL.					integral to membrane				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		AAGAGTTCCTCCTGGGGAGCA	0.602000													25	55					0	0	0.007291	0	0
TMEM39A	55254	broad.mit.edu	37	3	119156934	119156934	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:119156934G>A	ENST00000319172.5	-	6	1012	c.592C>T	c.(592-594)Cct>Tct	p.P198S	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	198						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		CAGCAAAGAGGAACATAAACA	0.383000													5	22					0	0	0.000602	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42410944	42410944	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:42410944C>T	ENST00000378152.4	+	26	2625	c.2527C>T	c.(2527-2529)Ccg>Tcg	p.P843S	ARHGEF1_ENST00000599846.1_3'UTR|ARHGEF1_ENST00000337665.4_3'UTR|ARHGEF1_ENST00000354532.3_3'UTR|ARHGEF1_ENST00000347545.4_3'UTR			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	0					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CTTGAGGTTCCCGCCCAGGAA	0.647000													9	9					0	0	0.008291	0	0
OR4C46	119749	broad.mit.edu	37	11	51515947	51515947	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:51515947C>T	ENST00000328188.1	+	1	666	c.666C>T	c.(664-666)tcC>tcT	p.S222S		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TCTTGTGCTCCCTAAGGACTC	0.488000													22	36					0	0	0.010504	0	0
KIR2DL4	3805	broad.mit.edu	37	19	55324656	55324656	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55324656C>T	ENST00000396284.2	+	6	777	c.777C>T	c.(775-777)ctC>ctT	p.L259L	KIR2DL4_ENST00000357494.4_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000396293.1_Intron|KIR2DL4_ENST00000359085.4_Silent_p.L261L|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000345540.5_Intron					killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4											NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CCTTCTTTCTCCTTCATCGCT	0.522000													17	11					0	0	0.007413	0	0
IL18RAP	8807	broad.mit.edu	37	2	103061691	103061691	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:103061691C>T	ENST00000264260.2	+	9	1552	c.963C>T	c.(961-963)atC>atT	p.I321I	IL18RAP_ENST00000409369.1_Silent_p.I179I	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	321	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AGCGTAATATCATCTTGGAAA	0.388000													14	22					0	0	0.004007	0	0
MUC16	94025	broad.mit.edu	37	19	9063501	9063501	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9063501G>A	ENST00000397910.4	-	3	24148	c.23945C>T	c.(23944-23946)tCa>tTa	p.S7982L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7984	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						AGGAGAAGGTGAAGTTGTGGC	0.483000													7	22					0	0	0.006214	0	0
SDR42E1	93517	broad.mit.edu	37	16	82034450	82034450	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:82034450C>T	ENST00000328945.5	-	2	141	c.14G>A	c.(13-15)aGa>aAa	p.R5K	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	5					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						CTTTTGAGATCTTTTGGGGTC	0.373000													6	28					0	0	0.003080	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157210	26157210	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:26157210G>A	ENST00000325250.1	+	2	295	c.108G>A	c.(106-108)gaG>gaA	p.E36E		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	36							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						CAGAAGGAGAGTCACCCTCCC	0.577000													8	15					0	0	0.004482	0	0
KDM5B	10765	broad.mit.edu	37	1	202709807	202709807	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:202709807G>A	ENST00000367265.3	-	20	4243	c.3079C>T	c.(3079-3081)Ctg>Ttg	p.L1027L	KDM5B_ENST00000367264.2_Silent_p.L1063L	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1027					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCAACCTGCAGGCCCTCTACA	0.522000													22	40					0	0	0.002780	0	0
OTOGL	283310	broad.mit.edu	37	12	80714438	80714438	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:80714438G>A	ENST00000458043.2	+	33	4018	c.4012G>A	c.(4012-4014)Gat>Aat	p.D1338N	OTOGL_ENST00000547103.1_Missense_Mutation_p.D1338N	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AAAATATGATGATTCTGAAGA	0.348000													8	5					0	0	0.004482	0	0
PIBF1	10464	broad.mit.edu	37	13	73401869	73401869	+	Splice_Site	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:73401869A>G	ENST00000326291.6	+	8	1253		c.e8-1			NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1							centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		ACATGTATGTAGGTAGTCACC	0.363000													12	16					0	0	0.001855	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48511930	48511930	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:48511930C>T	ENST00000339841.2	+	2	184	c.6C>T	c.(4-6)acC>acT	p.T2T	ELSPBP1_ENST00000597519.1_Silent_p.T2T	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	2				T -> N (in Ref. 1; CAC14267).	single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		CCAAGATGACCCGATGGTCCA	0.468000													7	17					0	0	0.001984	0	0
PKN1	5585	broad.mit.edu	37	19	14581591	14581591	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:14581591G>A	ENST00000242783.6	+	21	2718	c.2553G>A	c.(2551-2553)cgG>cgA	p.R851R	PKN1_ENST00000342216.4_Silent_p.R857R	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	851	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						AGCTGCTTCGGAGGAACCCAG	0.617000													24	53					0	0	0.006320	0	0
PTPRU	10076	broad.mit.edu	37	1	29606570	29606570	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:29606570C>T	ENST00000373779.3	+	11	1914	c.1785C>T	c.(1783-1785)gcC>gcT	p.A595A	PTPRU_ENST00000345512.3_Silent_p.A595A|PTPRU_ENST00000460170.2_Silent_p.A595A|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Silent_p.A595A|PTPRU_ENST00000323874.8_Silent_p.A595A|PTPRU_ENST00000356870.3_Silent_p.A595A	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	595	Fibronectin type-III 4.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TTGATTATGCCGACATGCCGT	0.637000													21	44					0	0	0.004656	0	0
NTN4	59277	broad.mit.edu	37	12	96131721	96131721	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:96131721A>T	ENST00000343702.4	-	3	1235	c.787T>A	c.(787-789)Ttc>Atc	p.F263I	NTN4_ENST00000553059.1_Missense_Mutation_p.F263I|NTN4_ENST00000344911.4_Missense_Mutation_p.F226I|NTN4_ENST00000552603.1_5'UTR|NTN4_ENST00000538383.1_Missense_Mutation_p.F226I	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	263	Laminin EGF-like 1.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CCATTGCAGAAGCAGCTGCCC	0.478000													19	27					0	0	0.007413	0	0
MUC16	94025	broad.mit.edu	37	19	9063963	9063963	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9063963G>A	ENST00000397910.4	-	3	23686	c.23483C>T	c.(23482-23484)tCc>tTc	p.S7828F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7830	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S7828Y(2)|p.S3461Y(1)		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						AGGGGTCAGGGAGGAAGCTAG	0.542000													7	65					0	0	0.003080	0	0
SLC22A8	9376	broad.mit.edu	37	11	62766395	62766395	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:62766395G>A	ENST00000336232.2	-	5	894	c.759C>T	c.(757-759)tcC>tcT	p.S253S	SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000430500.2_Silent_p.S253S|SLC22A8_ENST00000535878.1_Silent_p.S130S|SLC22A8_ENST00000311438.8_Silent_p.S253S|SLC22A8_ENST00000545207.1_Silent_p.S162S	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	253					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						CCACATACCAGGATGATAGGA	0.592000													9	35					0	0	0.010729	0	0
POLD3	10714	broad.mit.edu	37	11	74324008	74324008	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:74324008C>T	ENST00000263681.2	+	5	474	c.345C>T	c.(343-345)ttC>ttT	p.F115F	POLD3_ENST00000532497.1_Silent_p.F9F|POLD3_ENST00000527458.1_Silent_p.F76F	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	115					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					GGCCTCTGTTCAATACTGACT	0.443000													24	49					0	0	0.003330	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420389	55420389	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:55420389G>A	ENST00000242994.3	+	2	544	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	56	Asp/Glu-rich (acidic).				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CAGTATTgaggaagaagaaga	0.478000													6	10					0	0	0.001168	0	0
OR52H1	390067	broad.mit.edu	37	11	5566574	5566574	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5566574C>A	ENST00000322653.4	-	1	205	c.180G>T	c.(178-180)gaG>gaT	p.E60D	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGACTATGCTCCACCACAA	0.463000													8	41					1.12685e-05	1.22345e-05	0.004482	1	0
CREG2	200407	broad.mit.edu	37	2	102000125	102000125	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:102000125C>T	ENST00000324768.4	-	2	618	c.481G>A	c.(481-483)Gat>Aat	p.D161N	CREG2_ENST00000495455.1_5'UTR	NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	161						extracellular region	FMN binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						AAGGGGCCATCACTGACGGGC	0.522000													23	64					0	0	0.004656	0	0
KRTAP19-7	337974	broad.mit.edu	37	21	31933513	31933513	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:31933513G>A	ENST00000334849.2	-	1	120	c.96C>T	c.(94-96)ttC>ttT	p.F32F		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	32						intermediate filament				endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						CCAGTCTGCGGAAGCTGCCAC	0.542000													4	64					0	0	0.000602	0	0
CEACAM20	125931	broad.mit.edu	37	19	45028262	45028262	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:45028262C>T	ENST00000454753.1	-	0	507							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				ATGGCAGTGCCTGGGCTGACT	0.512000													121	258					0	0	0.014410	0	0
LRFN5	145581	broad.mit.edu	37	14	42356279	42356279	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:42356279G>A	ENST00000554171.1	+	5	2883	c.451G>A	c.(451-453)Gag>Aag	p.E151K	LRFN5_ENST00000298119.4_Missense_Mutation_p.E151K|LRFN5_ENST00000554120.1_Missense_Mutation_p.E151K			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	151						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CGCCCTTGAGGAGCTGGATCT	0.393000										HNSCC(30;0.082)			13	45					0	0	0.003163	0	0
COL4A5	1287	broad.mit.edu	37	X	107840644	107840644	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:107840644G>A	ENST00000328300.6	+	24	1869	c.1625G>A	c.(1624-1626)gGa>gAa	p.G542E	COL4A5_ENST00000361603.2_Missense_Mutation_p.G542E	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	542	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGCTTTCCTGGATCTAAAGGT	0.453000									Alport syndrome with Diffuse Leiomyomatosis				43	24					0	0	0.014410	0	0
TNFSF18	8995	broad.mit.edu	37	1	173013110	173013110	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:173013110C>T	ENST00000404377.3	-	2	223		c.e2-1		TNFSF18_ENST00000239468.2_Splice_Site|RP1-15D23.2_ENST00000432694.1_RNA	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18						anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						CCTTAGCAGTCTGTTGGGGAA	0.358000													29	77					0	0	0.013726	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420357	55420357	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:55420357G>A	ENST00000242994.3	+	2	512	c.134G>A	c.(133-135)aGc>aAc	p.S45N		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	45					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GGGATGCTCAGCAGCTTAACT	0.478000													15	13					0	0	0.002450	0	0
CPT1C	126129	broad.mit.edu	37	19	50212046	50212046	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:50212046G>A	ENST00000392518.4	+	14	1888	c.1516G>A	c.(1516-1518)Gac>Aac	p.D506N	CPT1C_ENST00000354199.5_Missense_Mutation_p.D506N|CPT1C_ENST00000598293.1_Missense_Mutation_p.D506N|CPT1C_ENST00000405931.2_Missense_Mutation_p.D495N|CPT1C_ENST00000323446.5_Missense_Mutation_p.D506N	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	506					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GGGGCACCCGGACCCCACACT	0.597000													31	74					0	0	0.003271	0	0
PSD3	23362	broad.mit.edu	37	8	18725306	18725306	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:18725306G>A	ENST00000440756.2	-	4	1614	c.1512C>T	c.(1510-1512)atC>atT	p.I504I	PSD3_ENST00000523619.1_Silent_p.I439I|PSD3_ENST00000327040.8_Silent_p.I504I			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	504					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACACACTCAGGATATCCTGAT	0.502000													48	109					0	0	0.014410	0	0
CDK13	8621	broad.mit.edu	37	7	40037178	40037178	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:40037178C>T	ENST00000181839.4	+	3	2562	c.1957C>T	c.(1957-1959)Cct>Tct	p.P653S	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.P653S	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	653					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						ACCGCTGCCCCCTGAGCTACC	0.398000													57	89					0	0	0.014410	0	0
ALDH18A1	5832	broad.mit.edu	37	10	97371130	97371130	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:97371130G>A	ENST00000371224.2	-	16	2130	c.1993C>T	c.(1993-1995)Cga>Tga	p.R665*	ALDH18A1_ENST00000371221.3_Nonsense_Mutation_p.R663*	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	665	Gamma-glutamyl phosphate reductase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity	p.R665R(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	TACTCAGTTCGGAGTGACTTC	0.502000													33	111					0	0	0.005524	0	0
NOTCH3	4854	broad.mit.edu	37	19	15289871	15289871	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15289871C>T	ENST00000263388.2	-	22	3758	c.3683G>A	c.(3682-3684)gGa>gAa	p.G1228E		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1228	EGF-like 31.				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)			ACGGAAACCTCCGCCTGGGTC	0.622000													10	24					0	0	0.006214	0	0
PCLO	27445	broad.mit.edu	37	7	82390025	82390025	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82390025C>A	ENST00000333891.8	-	24	15555	c.15218G>T	c.(15217-15219)aGa>aTa	p.R5073I		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4996					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCGATCATGTCTGCATACTCT	0.328000													11	45					1.58986e-06	1.72896e-06	0.008291	1	0
KCTD11	147040	broad.mit.edu	37	17	7256688	7256688	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:7256688G>A	ENST00000333751.3	+	1	1481	c.427G>A	c.(427-429)Gtg>Atg	p.V143M	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	143					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CCGATTTGGTGTGGCCAGTGG	0.617000													44	33					0	0	0.014410	0	0
BTNL8	79908	broad.mit.edu	37	5	180338436	180338436	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:180338436G>A	ENST00000231229.4	+	3	729	c.495G>A	c.(493-495)gcG>gcA	p.A165A	BTNL8_ENST00000505126.1_5'UTR|BTNL8_ENST00000400707.3_Silent_p.A40A|BTNL8_ENST00000340184.4_Silent_p.A165A|BTNL8_ENST00000533815.2_5'UTR|BTNL8_ENST00000511704.1_Silent_p.A49A|BTNL8_ENST00000508408.1_Silent_p.A165A	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	165	Ig-like V-type 2.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCCACAGCGAAGTGGAAAG	0.537000													35	121					0	0	0.003755	0	0
SVEP1	79987	broad.mit.edu	37	9	113241922	113241922	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:113241922C>T	ENST00000401783.2	-	13	2816	c.2480G>A	c.(2479-2481)gGa>gAa	p.G827E	SVEP1_ENST00000374461.1_Missense_Mutation_p.G804E|SVEP1_ENST00000302728.8_Missense_Mutation_p.G827E|SVEP1_ENST00000374469.1_Missense_Mutation_p.G804E|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	827					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						TACCATTTTTCCCAGGGTCGT	0.388000													34	161					0	0	0.006230	0	0
KANK2	25959	broad.mit.edu	37	19	11303680	11303680	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:11303680G>A	ENST00000432929.2	-	4	1436	c.1076C>T	c.(1075-1077)cCt>cTt	p.P359L	KANK2_ENST00000589894.1_Missense_Mutation_p.P359L|KANK2_ENST00000355150.5_Missense_Mutation_p.P359L|KANK2_ENST00000589359.1_Missense_Mutation_p.P359L|KANK2_ENST00000586659.1_Missense_Mutation_p.P359L	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	359										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGTGCCGTAAGGCTCCAGGCT	0.692000													14	27					0	0	0.003163	0	0
RIOK1	83732	broad.mit.edu	37	6	7401210	7401210	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:7401210G>C	ENST00000379834.2	+	6	1007	c.500G>C	c.(499-501)aGa>aCa	p.R167T		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	167							ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					CCCAGAACAAGAATGATTTTA	0.338000													8	36					0	0	0.008291	0	0
TRIM29	23650	broad.mit.edu	37	11	119998049	119998049	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:119998049G>A	ENST00000341846.5	-	3	1550	c.1129C>T	c.(1129-1131)Ctg>Ttg	p.L377L	TRIM29_ENST00000529044.1_Silent_p.L116L|TRIM29_ENST00000541857.1_Silent_p.L110L	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	377					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GTTACCTGCAGAAACAACACA	0.517000													22	22					0	0	0.014323	0	0
CCDC102B	79839	broad.mit.edu	37	18	66504003	66504003	+	Translation_Start_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:66504003G>A	ENST00000360242.5	+	2	120	c.3G>A	c.(1-3)atG>atA	p.M1I	CCDC102B_ENST00000584156.1_Start_Codon_SNP_p.M1I|CCDC102B_ENST00000319445.6_Start_Codon_SNP_p.M1I|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Start_Codon_SNP_p.M1I	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	1										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AAATAAATATGAATTTAGATT	0.358000													8	25					0	0	0.006214	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291223	141291223	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:141291223C>T	ENST00000247452.3	-	3	898	c.551G>A	c.(550-552)aGa>aAa	p.R184K		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	184	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CTCACGGGCTCTCTTGAGTAT	0.483000										HNSCC(46;0.14)			71	40					0	0	0.014410	0	0
ZNF98	148198	broad.mit.edu	37	19	22586269	22586269	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:22586269C>T	ENST00000357774.5	-	2	197	c.76G>A	c.(76-78)Gag>Aag	p.E26K	ZNF98_ENST00000601553.1_Missense_Mutation_p.E26K	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	26	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CATTGCCACTCCTCCAGAGAG	0.403000													14	43					0	0	0.001855	0	0
PLD2	5338	broad.mit.edu	37	17	4726072	4726072	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:4726072C>T	ENST00000263088.6	+	25	2846	c.2715C>T	c.(2713-2715)caC>caT	p.H905H	PLD2_ENST00000572940.1_Silent_p.H894H	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	905					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	ACCTGGTCCACTTCCCCCTCA	0.637000													29	22					0	0	0.003271	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102495923	102495923	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:102495923C>T	ENST00000360184.4	+	49	9680	c.9516C>T	c.(9514-9516)acC>acT	p.T3172T		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3172					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGGCCATCACCCCTCGCCACT	0.527000													15	23					0	0	0.003163	0	0
CSMD1	64478	broad.mit.edu	37	8	3038724	3038724	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:3038724G>A	ENST00000520002.1	-	38	6191	c.5636C>T	c.(5635-5637)cCg>cTg	p.P1879L	CSMD1_ENST00000602557.1_Missense_Mutation_p.P1879L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1878L|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1879L|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1879L|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1878L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1878L|CSMD1_ENST00000523387.1_5'UTR			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1879	CUB 11.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGCAGTGCCGGTACTGTGGT	0.393000													6	21					0	0	0.003080	0	0
FBXO7	25793	broad.mit.edu	37	22	32880020	32880020	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:32880020C>T	ENST00000266087.7	+	3	881	c.554C>T	c.(553-555)aCc>aTc	p.T185I	FBXO7_ENST00000397426.1_Missense_Mutation_p.T71I|FBXO7_ENST00000382058.3_Missense_Mutation_p.T106I	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	185					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCATTAGAGACCTTGTATCAA	0.453000													40	54					0	0	0.010771	0	0
FLG2	388698	broad.mit.edu	37	1	152329585	152329585	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152329585C>T	ENST00000388718.5	-	3	749	c.677G>A	c.(676-678)gGa>gAa	p.G226E	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	226	Ser-rich.						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)			TGATCCAGATCCAGATTCATA	0.443000													36	208					0	0	0.006230	0	0
MAPT	4137	broad.mit.edu	37	17	44060909	44060909	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:44060909C>T	ENST00000344290.5	+	6	1061	c.739C>T	c.(739-741)Cag>Tag	p.Q247*	MAPT_ENST00000351559.5_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000262410.5_Nonsense_Mutation_p.Q247*|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000571987.1_Nonsense_Mutation_p.Q247*|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000415613.2_Nonsense_Mutation_p.Q247*	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	247					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				GCGGCCTCCCCAGACAGCCGC	0.642000													17	9					0	0	0.007413	0	0
FREM1	158326	broad.mit.edu	37	9	14746467	14746467	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:14746467C>T	ENST00000380881.4	-	36	6957		c.e36-1		FREM1_ENST00000380880.3_Splice_Site|FREM1_ENST00000380894.1_Splice_Site|FREM1_ENST00000422223.2_Splice_Site			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1						cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTTCCACATCCTGAAAAACAG	0.483000													11	76					0	0	0.013537	0	0
FCRL5	83416	broad.mit.edu	37	1	157516808	157516808	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:157516808G>A	ENST00000361835.3	-	3	389	c.232C>T	c.(232-234)Cag>Tag	p.Q78*	FCRL5_ENST00000368190.3_Nonsense_Mutation_p.Q78*|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368189.3_Nonsense_Mutation_p.Q78*|FCRL5_ENST00000356953.4_Nonsense_Mutation_p.Q78*|FCRL5_ENST00000368188.2_Nonsense_Mutation_p.Q78*	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	78	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CCAGATTCCTGAACCTCAAGG	0.488000													25	41					0	0	0.002780	0	0
EPN1	29924	broad.mit.edu	37	19	56204341	56204341	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:56204341C>T	ENST00000411543.2	+	9	2007	c.1460C>T	c.(1459-1461)cCc>cTc	p.P487L	EPN1_ENST00000270460.6_Missense_Mutation_p.P401L|EPN1_ENST00000085079.7_Missense_Mutation_p.P375L	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	401	Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GACACGGAGCCCGACGAGTTC	0.701000													27	91					0	0	0.009535	0	0
ROBO2	6092	broad.mit.edu	37	3	77612366	77612366	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:77612366G>A	ENST00000461745.1	+	11	2468	c.1568G>A	c.(1567-1569)gGg>gAg	p.G523E	ROBO2_ENST00000487694.3_Missense_Mutation_p.G539E|ROBO2_ENST00000332191.8_Missense_Mutation_p.G523E	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	523	Fibronectin type-III 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GACCTGCCAGGGCCACCATCC	0.453000													10	31					0	0	0.006214	0	0
NPAS4	266743	broad.mit.edu	37	11	66191885	66191885	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:66191885C>T	ENST00000311034.2	+	7	1700	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	508					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCTCCACCTTCCCAGACCAGC	0.582000													72	134					0	0	0.014410	0	0
PREX1	57580	broad.mit.edu	37	20	47274731	47274731	+	Silent	SNP	G	G	A	rs147901913		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:47274731G>A	ENST00000396220.1	-	17	1939	c.1917C>T	c.(1915-1917)atC>atT	p.I639I	PREX1_ENST00000371941.3_Silent_p.I639I			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	639	PDZ.				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)			TCTTCTCCTCGATGTCAAAGC	0.672000											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	252					0	0	0.014323	0	0
LVRN	206338	broad.mit.edu	37	5	115335539	115335539	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:115335539G>A	ENST00000357872.4	+	7	1579	c.1455G>A	c.(1453-1455)aaG>aaA	p.K485K	AQPEP_ENST00000395528.2_Silent_p.K2K	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		485					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										TGGCCATGAAGGTGGAAAATT	0.358000													9	27					0	0	0.001855	0	0
MAGEB2	4113	broad.mit.edu	37	X	30236800	30236800	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:30236800G>A	ENST00000378988.4	+	2	204	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	35							protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TGAAGCAGAGGAAGAAGAGGC	0.602000													7	3					0	0	0.001984	0	0
PRRC2A	7916	broad.mit.edu	37	6	31592070	31592070	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:31592070C>T	ENST00000376033.2	+	4	557	c.323C>T	c.(322-324)tCg>tTg	p.S108L	PRRC2A_ENST00000469577.1_3'UTR|PRRC2A_ENST00000376007.4_Missense_Mutation_p.S108L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	108	4 X 57 AA type A repeats.			ESQPLPASQTPASNQPK -> NRTTAGFTDACLQPAE (in Ref. 8; CAA78744).		cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCGCCGGAATCGCAGCCACTG	0.617000													7	60					0	0	0.001984	0	0
ZEB1	6935	broad.mit.edu	37	10	31812998	31812998	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:31812998C>T	ENST00000446923.2	+	8	3082	c.2691C>T	c.(2689-2691)ttC>ttT	p.F897F	ZEB1_ENST00000320985.10_Silent_p.F913F|ZEB1_ENST00000361642.5_Silent_p.F914F|ZEB1_ENST00000542815.3_Silent_p.F846F|ZEB1_ENST00000560721.2_Silent_p.F893F	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	913					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ACAAGATATTCCAAAAGAGTA	0.358000													11	46					0	0	0.013537	0	0
TNN	63923	broad.mit.edu	37	1	175054614	175054614	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:175054614C>T	ENST00000239462.4	+	6	1421	c.1308C>T	c.(1306-1308)ctC>ctT	p.L436L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	436	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGCCGATCCTCCTGAATGGCA	0.522000													3	9					0	0	0.009096	0	0
CNGB1	1258	broad.mit.edu	37	16	57918121	57918121	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:57918121C>T	ENST00000564448.1	-	33	3745	c.3685G>A	c.(3685-3687)Gag>Aag	p.E1229K	CNGB1_ENST00000251102.8_Missense_Mutation_p.E1235K			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1235					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						AGGATCTGCTCTCCCGGCTCC	0.692000													28	61					0	0	0.005524	0	0
TEX15	56154	broad.mit.edu	37	8	30699863	30699863	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:30699863C>T	ENST00000256246.2	-	1	6745	c.6671G>A	c.(6670-6672)gGa>gAa	p.G2224E		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2224										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GGCCATTTTTCCTAAATCTTT	0.348000													27	52					0	0	0.010818	0	0
DNAAF1	123872	broad.mit.edu	37	16	84203719	84203719	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:84203719G>A	ENST00000378553.5	+	8	1409	c.1285G>A	c.(1285-1287)Gtt>Att	p.V429I	DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000334315.5_Intron	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	429	Pro-rich.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						ACCTGTGGAGGTTAAAGGAGA	0.617000													12	57					0	0	0.013537	0	0
C1orf105	92346	broad.mit.edu	37	1	172431348	172431348	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:172431348G>A	ENST00000367727.4	+	5	502	c.304G>A	c.(304-306)Gat>Aat	p.D102N	C1orf105_ENST00000367725.4_Missense_Mutation_p.D92N|C1orf105_ENST00000367726.1_3'UTR	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	102										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						AATCCCAGATGATCCAAAAGC	0.343000													17	21					0	0	0.007413	0	0
IL20RA	53832	broad.mit.edu	37	6	137322987	137322987	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:137322987A>G	ENST00000367748.1	-	6	1623	c.1037T>C	c.(1036-1038)tTa>tCa	p.L346S	IL20RA_ENST00000541547.1_Missense_Mutation_p.L408S|IL20RA_ENST00000316649.5_Missense_Mutation_p.L457S			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	457						integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CAGGGGGTCTAAGTCTTGGAG	0.597000													21	67					0	0	0.002780	0	0
CORO2A	7464	broad.mit.edu	37	9	100899903	100899903	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:100899903C>T	ENST00000343933.5	-	3	526	c.269G>A	c.(268-270)tGg>tAg	p.W90*	CORO2A_ENST00000375077.4_Nonsense_Mutation_p.W90*	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	90					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AAAAGGGTTCCACTTGACATC	0.557000													17	68					0	0	0.008871	0	0
HSPB8	26353	broad.mit.edu	37	12	119631570	119631570	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:119631570C>T	ENST00000281938.2	+	3	1169	c.498C>T	c.(496-498)atC>atT	p.I166I	HSPB8_ENST00000542496.1_3'UTR	NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	166					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCTGATCATCGAAGCTCCCC	0.498000													21	27					0	0	0.010504	0	0
FBLN1	2192	broad.mit.edu	37	22	45923772	45923772	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:45923772G>A	ENST00000348697.2	+	4	514	c.367G>A	c.(367-369)Ggc>Agc	p.G123S	FBLN1_ENST00000442170.2_Missense_Mutation_p.G123S|FBLN1_ENST00000327858.6_Missense_Mutation_p.G123S|FBLN1_ENST00000340923.5_Missense_Mutation_p.G123S|FBLN1_ENST00000262722.7_Missense_Mutation_p.G123S|FBLN1_ENST00000402984.3_Missense_Mutation_p.G161S			P23142	FBLN1_HUMAN	fibulin 1	123	Anaphylatoxin-like 3.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCAGGCCCAGGGCCAGAGCTG	0.632000													15	64					0	0	0.004007	0	0
KCNT2	343450	broad.mit.edu	37	1	196451491	196451491	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:196451491C>T	ENST00000367433.5	-	4	395	c.294G>A	c.(292-294)gtG>gtA	p.V98V	KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000294725.8_Silent_p.V98V|KCNT2_ENST00000367431.4_Silent_p.V98V			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	98						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						GACTTCTGTTCACCCAAAAGA	0.284000													8	15					0	0	0.004482	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808916	18808916	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:18808916G>A	ENST00000400664.1	+	1	1493	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	481						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGCAGAGCGCGAGCTGATCCT	0.657000													27	61					0	0	0.004656	0	0
MAGEC3	139081	broad.mit.edu	37	X	140984478	140984478	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:140984478G>A	ENST00000544766.1	+	5	567	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000536088.1_Missense_Mutation_p.E14K|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000409007.1_Missense_Mutation_p.E14K|MAGEC3_ENST00000443323.2_Intron	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	0										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCTTTGAGGAAGACTTCCA	0.532000													42	26					0	0	0.014410	0	0
AOX1	316	broad.mit.edu	37	2	201488607	201488607	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:201488607C>T	ENST00000374700.2	+	19	2266	c.2025C>T	c.(2023-2025)gtC>gtT	p.V675V	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	675					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GTCAGCTTGTCTGTGCTGTGC	0.488000													28	84					0	0	0.006320	0	0
SORBS2	8470	broad.mit.edu	37	4	186583354	186583354	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:186583354G>A	ENST00000355634.5	-	8	1011	c.298C>T	c.(298-300)Ccc>Tcc	p.P100S	SORBS2_ENST00000319471.9_Missense_Mutation_p.P86S|SORBS2_ENST00000284776.7_5'UTR|SORBS2_ENST00000437304.2_Missense_Mutation_p.P179S|SORBS2_ENST00000431808.1_5'UTR|SORBS2_ENST00000449407.2_Missense_Mutation_p.P86S|SORBS2_ENST00000393528.3_Missense_Mutation_p.P46S|SORBS2_ENST00000448662.2_Missense_Mutation_p.P69S	NM_001270771.1	NP_001257700.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	0	SoHo.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TAACTCATGGGACTCACGGCA	0.493000													10	6					0	0	0.006214	0	0
TBCK	93627	broad.mit.edu	37	4	107092295	107092295	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:107092295G>A	ENST00000273980.4	-	24	2639	c.2192C>T	c.(2191-2193)cCt>cTt	p.P731L	TBCK_ENST00000514689.1_5'UTR|TBCK_ENST00000361687.4_Missense_Mutation_p.P668L|TBCK_ENST00000394706.3_Missense_Mutation_p.P692L|TBCK_ENST00000432496.2_Missense_Mutation_p.P731L|TBCK_ENST00000394708.2_Missense_Mutation_p.P731L			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	731						intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						AGAGAAATAAGGTGCCGAACT	0.418000													23	27					0	0	0.003330	0	0
FAM220A	84792	broad.mit.edu	37	7	6370581	6370581	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:6370581G>A	ENST00000313324.4	-	2	672	c.205C>T	c.(205-207)Ccg>Tcg	p.P69S		NM_001037163.1	NP_001032240.1	Q7Z4H9	SIPAR_HUMAN	family with sequence similarity 220, member A	69						nucleus											GCCCCGCTCGGATCCTTTCTC	0.542000													26	33					0	0	0.004656	0	0
NLRP2	55655	broad.mit.edu	37	19	55492998	55492998	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55492998G>A	ENST00000543010.1	+	5	554	c.411G>A	c.(409-411)acG>acA	p.T137T	NLRP2_ENST00000537859.1_Intron|NLRP2_ENST00000263437.6_Silent_p.T134T|NLRP2_ENST00000391721.4_Silent_p.T113T|NLRP2_ENST00000339757.7_Intron|NLRP2_ENST00000448584.2_Silent_p.T137T|NLRP2_ENST00000427260.2_Silent_p.T114T|NLRP2_ENST00000538819.1_Silent_p.T113T	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	137					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TTACAGAAACGAAAGGAAATG	0.413000													24	49					0	0	0.003954	0	0
SYT10	341359	broad.mit.edu	37	12	33529798	33529798	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:33529798G>A	ENST00000228567.3	-	7	1835	c.1539C>T	c.(1537-1539)tcC>tcT	p.S513S	SYT10_ENST00000535526.1_Silent_p.S332S	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	513						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GAGAAGGGCAGGATCCTTGAC	0.403000													76	49					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179637975	179637975	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179637975G>A	ENST00000589042.1	-	33	7940	c.7716C>T	c.(7714-7716)atC>atT	p.I2572I	TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000460472.2_Silent_p.I2526I|TTN_ENST00000360870.5_Silent_p.I2572I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.I2526I|TTN_ENST00000342992.6_Silent_p.I2572I|TTN_ENST00000342175.6_Silent_p.I2526I|TTN_ENST00000591111.1_Silent_p.I2572I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2306							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)			AACTGGGCTTGATTTCCTTGT	0.348000													18	13					0	0	0.006122	0	0
ZNF616	90317	broad.mit.edu	37	19	52619558	52619558	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:52619558G>A	ENST00000600228.1	-	4	1120	c.859C>T	c.(859-861)Cat>Tat	p.H287Y	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ATTCTCTGATGAACTGCAAGG	0.393000													20	38					0	0	0.012319	0	0
FAM92B	339145	broad.mit.edu	37	16	85143948	85143948	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:85143948C>T	ENST00000539556.1	-	2	294	c.139G>A	c.(139-141)Gac>Aac	p.D47N		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	47										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						ACCAGCTGGTCCGCCTTGTCC	0.632000													21	26					0	0	0.012319	0	0
CYP4F22	126410	broad.mit.edu	37	19	15648746	15648746	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15648746C>T	ENST00000269703.2	+	7	812	c.613C>T	c.(613-615)Ctc>Ttc	p.L205F	CYP4F22_ENST00000601005.2_Missense_Mutation_p.L205F	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	205						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GCATATCAGCCTCATGACCCT	0.512000													26	42					0	0	0.006320	0	0
PRKAA2	5563	broad.mit.edu	37	1	57169990	57169990	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:57169990A>T	ENST00000371244.4	+	7	1201	c.1135A>T	c.(1135-1137)Aaa>Taa	p.K379*		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	379					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						AGACAGCCCCAAAGCAAGATG	0.468000													21	34					0	0	0.014323	0	0
OR4K13	390433	broad.mit.edu	37	14	20502859	20502859	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:20502859G>A	ENST00000315693.2	-	1	60	c.59C>T	c.(58-60)tCt>tTt	p.S20F		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAGATTTTGAGATTTGGAAAG	0.378000													8	30					0	0	0.006214	0	0
TPO	7173	broad.mit.edu	37	2	1500513	1500513	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:1500513G>A	ENST00000345913.4	+	13	2453	c.2362G>A	c.(2362-2364)Gat>Aat	p.D788N	TPO_ENST00000382198.1_Missense_Mutation_p.D615N|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.D615N|TPO_ENST00000382201.3_Missense_Mutation_p.D731N|TPO_ENST00000329066.4_Missense_Mutation_p.D788N|TPO_ENST00000337415.3_Missense_Mutation_p.D788N|TPO_ENST00000346956.3_Missense_Mutation_p.D788N	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	788	Sushi.				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGAAGGATGGGATTTCCAGCC	0.507000													32	75					0	0	0.004878	0	0
EPHB6	2051	broad.mit.edu	37	7	142566055	142566055	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142566055C>T	ENST00000392957.2	+	14	2762	c.1975C>T	c.(1975-1977)Cga>Tga	p.R659*	EPHB6_ENST00000442129.1_Nonsense_Mutation_p.R659*|EPHB6_ENST00000411471.2_Nonsense_Mutation_p.R382*	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	659						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TCAGGCCATCCGAGAACTTGC	0.562000													31	42					0	0	0.008361	0	0
MYO18B	84700	broad.mit.edu	37	22	26422717	26422717	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:26422717G>A	ENST00000335473.7	+	43	7027	c.6777G>A	c.(6775-6777)agG>agA	p.R2259R	MYO18B_ENST00000536101.1_Silent_p.R2259R|MYO18B_ENST00000407587.2_Silent_p.R2260R	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2259						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGCTCCGGAGGAAGAGAGCCC	0.632000													3	14					0	0	0.004672	0	0
MUC2	4583	broad.mit.edu	37	11	1093693	1093693	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:1093693C>T	ENST00000441003.2	+	30	5539	c.5512C>T	c.(5512-5514)Cac>Tac	p.H1838Y	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Missense_Mutation_p.H126Y	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1841						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCCCCCCACCCACACAAGCAC	0.617000													53	96					0	0	0.014410	0	0
CCNA1	8900	broad.mit.edu	37	13	37016791	37016791	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:37016791C>T	ENST00000418263.1	+	9	1734	c.1384C>T	c.(1384-1386)Ctt>Ttt	p.L462F	CCNA1_ENST00000255465.4_Missense_Mutation_p.L463F|CCNA1_ENST00000440264.1_Missense_Mutation_p.L419F|CCNA1_ENST00000449823.1_Missense_Mutation_p.L419F	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	463					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TGCAGTTCTTCTTCTACAATA	0.443000													6	33					0	0	0.001168	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999697	112999697	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:112999697C>T	ENST00000271277.6	+	6	1808	c.1583C>T	c.(1582-1584)cCc>cTc	p.P528L	CTTNBP2NL_ENST00000607039.1_3'UTR|RP4-671G15.3_ENST00000508462.1_RNA	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	528						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACAGCTCTCCCTTTGGCACA	0.552000													28	43					0	0	0.009535	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215258	140215258	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140215258G>A	ENST00000525929.1	+	1	1290	c.1290G>A	c.(1288-1290)ggG>ggA	p.G430G	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.G430G|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGGACGGGGGCTCGCCTT	0.627000													22	70					0	0	0.014323	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15587195	15587195	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15587195C>T	ENST00000292609.4	-	2	415	c.286G>A	c.(286-288)Gag>Aag	p.E96K	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.E96K			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	96					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CGGGCCACCTCCTTGGTCAGG	0.612000													25	53					0	0	0.003330	0	0
BCL6	604	broad.mit.edu	37	3	187449586	187449586	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:187449586C>T	ENST00000406870.2	-	4	660	c.294G>A	c.(292-294)cgG>cgA	p.R98R	BCL6_ENST00000232014.4_Silent_p.R98R|BCL6_ENST00000450123.2_Silent_p.R98R|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	98	BTB.				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TGTTGCCCTCCCGCAAATTGA	0.493000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								6	39					0	0	0.003080	0	0
FFAR3	2865	broad.mit.edu	37	19	35850271	35850271	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:35850271C>T	ENST00000327809.4	+	2	680	c.479C>T	c.(478-480)tCc>tTc	p.S160F	FFAR3_ENST00000594310.1_Missense_Mutation_p.S160F	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	160						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GGGGACATCTCCCACAGCCAG	0.622000													9	44					0	0	0.010729	0	0
SLIT3	6586	broad.mit.edu	37	5	168123338	168123338	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:168123338C>T	ENST00000519560.1	-	28	3460	c.3041G>A	c.(3040-3042)gGg>gAg	p.G1014E	SLIT3_ENST00000404867.3_Missense_Mutation_p.G1014E|SLIT3_ENST00000332966.8_Missense_Mutation_p.G1021E	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1014	EGF-like 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTGTTGATCCCGTCCACGCA	0.532000													20	41					0	0	0.010504	0	0
PLCB4	5332	broad.mit.edu	37	20	9318655	9318655	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:9318655G>A	ENST00000378501.2	+	3	181	c.165_splice	c.e3-1	p.E56_splice	PLCB4_ENST00000378493.1_Splice_Site_p.E56_splice|PLCB4_ENST00000414679.2_Splice_Site_p.E56_splice|PLCB4_ENST00000278655.4_Splice_Site_p.E56_splice|PLCB4_ENST00000378473.3_Splice_Site_p.E56_splice|PLCB4_ENST00000334005.3_Splice_Site_p.E56_splice|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	56					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						CTCTCTTCAGGAAGGACAGGT	0.428000													17	19					0	0	0.004007	0	0
CST11	140880	broad.mit.edu	37	20	23432486	23432486	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:23432486C>T	ENST00000377009.3	-	2	333	c.300G>A	c.(298-300)acG>acA	p.T100T	CST11_ENST00000377007.3_Intron	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	100					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity	p.T100T(1)		kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GGACACAGTTCGTGGTCTCTG	0.522000													14	50					0	0	0.003163	0	0
TAL2	6887	broad.mit.edu	37	9	108424936	108424936	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:108424936C>T	ENST00000334077.3	+	1	199	c.159C>T	c.(157-159)ttC>ttT	p.F53F		NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN	T-cell acute lymphocytic leukemia 2	53	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										ATATCAACTTCTTGGTCAAGG	0.557000			T	TRB@	T-ALL								13	31					0	0	0.004007	0	0
CYP2S1	29785	broad.mit.edu	37	19	41704515	41704515	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:41704515C>T	ENST00000310054.4	+	4	858	c.642C>T	c.(640-642)tcC>tcT	p.S214S	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	214					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GAGTCAGCTCCCAGGGGGGTC	0.612000													32	63					0	0	0.004289	0	0
CEACAM21	90273	broad.mit.edu	37	19	42083877	42083877	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:42083877G>A	ENST00000187608.9	+	2	430	c.390G>A	c.(388-390)caG>caA	p.Q130Q	CEACAM21_ENST00000407170.2_5'UTR|CEACAM21_ENST00000401445.2_Silent_p.Q130Q|CEACAM21_ENST00000482870.2_3'UTR	NM_001098506.1|NM_033543.3	NP_001091976.1|NP_291021.2	Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	130						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						GAAATTCTCAGATTGAACAGG	0.498000													9	46					0	0	0.006214	0	0
NLRX1	79671	broad.mit.edu	37	11	119050756	119050756	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:119050756C>T	ENST00000409109.1	+	7	2613	c.2026C>T	c.(2026-2028)Ctt>Ttt	p.L676F	NLRX1_ENST00000292199.2_Missense_Mutation_p.L676F|NLRX1_ENST00000409991.1_Missense_Mutation_p.L676F|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000409265.4_Missense_Mutation_p.L676F|NLRX1_ENST00000525863.1_Missense_Mutation_p.L676F			Q86UT6	NLRX1_HUMAN	NLR family member X1	676	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		ATCAGAGCTCCTTGACCACCT	0.607000													4	14					0	0	0.009096	0	0
RXRG	6258	broad.mit.edu	37	1	165398114	165398114	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:165398114C>T	ENST00000359842.5	-	2	441	c.139G>A	c.(139-141)Gat>Aat	p.D47N		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	47	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	ACTGGGGTATCTGTGTAGCTG	0.607000													12	34					0	0	0.010729	0	0
GDF5	8200	broad.mit.edu	37	20	34025277	34025277	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:34025277G>A	ENST00000374372.1	-	3	935	c.432C>T	c.(430-432)ttC>ttT	p.F144F	GDF5_ENST00000374369.3_Silent_p.F144F			P43026	GDF5_HUMAN	growth differentiation factor 5	144					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TCTTCAGCAGGAAGGAGCTGG	0.637000													18	87					0	0	0.007413	0	0
COL4A3	1285	broad.mit.edu	37	2	228169791	228169791	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:228169791G>A	ENST00000396578.3	+	47	4406	c.4244G>A	c.(4243-4245)gGa>gAa	p.G1415E	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1415	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGTTCTAAAGGAGAGCCAGGT	0.488000													8	18					0	0	0.004482	0	0
DENND2C	163259	broad.mit.edu	37	1	115166153	115166153	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:115166153C>T	ENST00000393274.1	-	5	1543	c.918G>A	c.(916-918)gaG>gaA	p.E306E	DENND2C_ENST00000393276.3_Silent_p.E306E|DENND2C_ENST00000481894.1_Intron|DENND2C_ENST00000393277.1_Silent_p.E306E	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	306										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGATATTGTCCTCAGACTGTG	0.353000													6	38					0	0	0.001984	0	0
ZFAND2A	90637	broad.mit.edu	37	7	1197839	1197839	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:1197839G>A	ENST00000401903.1	-	2	269	c.10C>T	c.(10-12)Cct>Tct	p.P4S	ZFAND2A_ENST00000316495.3_Missense_Mutation_p.P4S			Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	4						cytoplasm|nucleus	zinc ion binding			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		CCCAAATCAGGAAACTCCATT	0.428000													31	200					0	0	0.010818	0	0
PRG4	10216	broad.mit.edu	37	1	186278982	186278982	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:186278982G>A	ENST00000445192.2	+	8	3524	c.3479G>A	c.(3478-3480)gGg>gAg	p.G1160E	PRG4_ENST00000367484.3_Missense_Mutation_p.G689E|PRG4_ENST00000367483.4_Missense_Mutation_p.G1119E|PRG4_ENST00000367485.4_Missense_Mutation_p.G1067E|PRG4_ENST00000367486.3_Missense_Mutation_p.G1117E	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1160	Hemopexin-like 1.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TTGCGCAATGGGACATTAGTT	0.363000													23	74					0	0	0.003330	0	0
SKAP1	8631	broad.mit.edu	37	17	46262129	46262129	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:46262129C>T	ENST00000336915.6	-	7	592	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	SKAP1_ENST00000584924.1_Missense_Mutation_p.E175K	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	175	PH.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						AAGCAGGATTCTTTCTTGGAA	0.527000													116	53					0	0	0.014410	0	0
GID8	54994	broad.mit.edu	37	20	61574861	61574861	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:61574861C>T	ENST00000266069.3	+	4	477	c.330C>T	c.(328-330)atC>atT	p.I110I		NM_017896.2	NP_060366.1			GID complex subunit 8																		AGCATTTGATCGAGCTGATCC	0.607000													13	24					0	0	0.002450	0	0
SLC16A11	162515	broad.mit.edu	37	17	6945846	6945846	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:6945846G>T	ENST00000308009.1	-	3	992	c.655C>A	c.(655-657)Ctt>Att	p.L219I	SLC16A11_ENST00000447225.1_Missense_Mutation_p.L195I	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	219						integral to membrane|plasma membrane	symporter activity			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						TCTCCAGGAAGGACCAGGGGT	0.662000													3	2					0.004672	0.0050461	0.004672	1	0
L3MBTL2	83746	broad.mit.edu	37	22	41621034	41621034	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:41621034C>T	ENST00000216237.5	+	11	1473	c.1315C>T	c.(1315-1317)Ccc>Tcc	p.P439S		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	439					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGCCATTGACCCCCTGAATCT	0.597000													20	66					0	0	0.002780	0	0
CTSE	1510	broad.mit.edu	37	1	206319209	206319209	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:206319209C>T	ENST00000361052.3	+	3	452	c.334C>T	c.(334-336)Cca>Tca	p.P112S	CTSE_ENST00000360218.2_Missense_Mutation_p.P112S|CTSE_ENST00000358184.2_Missense_Mutation_p.P112S|CTSE_ENST00000432969.2_Missense_Mutation_p.P37S			P14091	CATE_HUMAN	cathepsin E	112					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CTGCACTAGCCCAGCCTGCAG	0.597000													12	27					0	0	0.010729	0	0
CLCNKA	1187	broad.mit.edu	37	1	16353030	16353030	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:16353030G>A	ENST00000375692.1	+	7	626		c.e7-1		CLCNKA_ENST00000331433.4_Splice_Site|CLCNKA_ENST00000439316.2_Splice_Site|CLCNKA_ENST00000464764.1_Splice_Site|CLCNKA_ENST00000420078.1_Splice_Site			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka						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)	TCCCTCTGCAGGGCCCTTTCG	0.662000													9	55					0	0	0.008291	0	0
TEX15	56154	broad.mit.edu	37	8	30706008	30706008	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:30706008C>T	ENST00000256246.2	-	1	600	c.526G>A	c.(526-528)Gag>Aag	p.E176K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	176										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGAGCCTTCTCCTCACTGTGG	0.423000													7	41					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179401219	179401219	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179401219C>T	ENST00000589042.1	-	357	100479	c.100255G>A	c.(100255-100257)Gat>Aat	p.D33419N	TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D24354N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D24479N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D30851N|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D24546N|TTN_ENST00000591111.1_Missense_Mutation_p.D31778N|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31778			E -> D.				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)			GCACCTCCATCACTGGCAGGT	0.403000													22	57					0	0	0.002780	0	0
LCE1B	353132	broad.mit.edu	37	1	152785023	152785023	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152785023C>T	ENST00000360090.3	+	1	577	c.101C>T	c.(100-102)cCc>cTc	p.P34L		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	34	Pro-rich.				keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAAAGTGTCCCCCTAAGTGT	0.637000													24	47					0	0	0.003330	0	0
CAMKK2	10645	broad.mit.edu	37	12	121682391	121682391	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:121682391G>A	ENST00000324774.5	-	16	2409	c.1581C>T	c.(1579-1581)tcC>tcT	p.S527S	CAMKK2_ENST00000392473.2_Silent_p.S527S|CAMKK2_ENST00000392474.2_Silent_p.S527S|CAMKK2_ENST00000347034.2_Silent_p.S484S|CAMKK2_ENST00000337174.3_Intron|CAMKK2_ENST00000404169.3_Silent_p.S527S|CAMKK2_ENST00000446440.2_Silent_p.S484S|CAMKK2_ENST00000412367.2_Intron|CAMKK2_ENST00000402834.4_Silent_p.S527S|CAMKK2_ENST00000538733.1_Intron|CAMKK2_ENST00000545538.1_Silent_p.S314S	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	527					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCTCAGACAGGGACTCACATT	0.637000													37	134					0	0	0.006230	0	0
PANX1	24145	broad.mit.edu	37	11	93911600	93911600	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:93911600C>T	ENST00000227638.3	+	3	772	c.387C>T	c.(385-387)ttC>ttT	p.F129F	PANX1_ENST00000436171.2_Silent_p.F129F	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	129					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCTGGCGTTTCGCAGCTGCTC	0.468000													29	28					0	0	0.012213	0	0
AP3B1	8546	broad.mit.edu	37	5	77423960	77423960	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:77423960G>T	ENST00000255194.6	-	17	2037	c.1862C>A	c.(1861-1863)aCc>aAc	p.T621N	AP3B1_ENST00000519295.1_Missense_Mutation_p.T572N	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	621					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ATGAGATAAGGTGCCAAGCTG	0.363000									Hermansky-Pudlak syndrome				7	11					1.06961e-07	1.16509e-07	0.003080	1	0
M1AP	130951	broad.mit.edu	37	2	74834197	74834197	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:74834197C>T	ENST00000290536.5	-	4	696	c.580G>A	c.(580-582)Gat>Aat	p.D194N	M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000409585.1_Missense_Mutation_p.D194N|M1AP_ENST00000536235.1_Missense_Mutation_p.D194N	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		TTGCTGGTATCCTCAACAGGA	0.423000													24	39					0	0	0.003330	0	0
TTLL9	164395	broad.mit.edu	37	20	30496439	30496439	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:30496439G>A	ENST00000375938.4	+	5	505	c.252G>A	c.(250-252)cgG>cgA	p.R84R	TTLL9_ENST00000375922.4_Silent_p.R34R|TTLL9_ENST00000375921.2_Silent_p.R34R|TTLL9_ENST00000310998.4_Silent_p.R34R|TTLL9_ENST00000375934.4_Silent_p.R66R|TTLL9_ENST00000535842.1_Silent_p.R84R			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	84	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCTGGCTCCGGGAGAACTTCG	0.602000													5	25					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179614065	179614065	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179614065G>A	ENST00000360870.5	-	46	13284	c.13062C>T	c.(13060-13062)ttC>ttT	p.F4354F	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	488	Ig-like 23.						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)			GACATTGTATGAATTCAGCCC	0.418000													29	45					0	0	0.003271	0	0
KIAA1244	57221	broad.mit.edu	37	6	138640839	138640839	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:138640839G>A	ENST00000251691.4	+	28	4640		c.e28-1			NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244						regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TTCTTTTTCAGGACCAGGGTT	0.488000													47	148					0	0	0.014410	0	0
GALNT6	11226	broad.mit.edu	37	12	51757921	51757921	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:51757921C>T	ENST00000543196.2	-	5	1238	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	GALNT6_ENST00000356317.3_Missense_Mutation_p.E345K			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	345					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGGTAGGTTTCATCCTTGCGC	0.572000													30	37					0	0	0.013726	0	0
PVALB	5816	broad.mit.edu	37	22	37211164	37211164	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:37211164G>A	ENST00000216200.5	-	3	232	c.177C>T	c.(175-177)atC>atT	p.I59I	PVALB_ENST00000417718.2_Silent_p.I59I|PVALB_ENST00000404171.1_Silent_p.I27I	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN	parvalbumin	59	EF-hand 1.						calcium ion binding			large_intestine(1)|lung(1)|skin(1)	3						CATCCTCCTCGATGAAGCCAC	0.557000													7	19					0	0	0.003080	0	0
KSR2	283455	broad.mit.edu	37	12	117962898	117962898	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:117962898C>T	ENST00000425217.1	-	14	1945	c.1891G>A	c.(1891-1893)Gac>Aac	p.D631N	KSR2_ENST00000302438.5_Missense_Mutation_p.D357N|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.D660N	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	660					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGGGGATGTCCCACTCCTGA	0.617000													32	28					0	0	0.004289	0	0
USP24	23358	broad.mit.edu	37	1	55547002	55547002	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:55547002C>T	ENST00000294383.6	-	59	7070	c.7071G>A	c.(7069-7071)agG>agA	p.R2357R	USP24_ENST00000407756.1_Silent_p.R2197R	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2357					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TACCAACATTCCTTTGGGATG	0.373000													42	261					0	0	0.010771	0	0
RP1	6101	broad.mit.edu	37	8	55540720	55540720	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:55540720G>A	ENST00000220676.1	+	4	4426	c.4278G>A	c.(4276-4278)agG>agA	p.R1426R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1426					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)			GTTCACTAAGGAAGTTTCAGG	0.368000													9	18					0	0	0.008291	0	0
ZDHHC21	340481	broad.mit.edu	37	9	14618989	14618989	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:14618989G>A	ENST00000380916.3	-	10	1239	c.773C>T	c.(772-774)cCc>cTc	p.P258L		NM_178566.4	NP_848661.1	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21	258					nitric oxide metabolic process|regulation of nitric-oxide synthase activity	Golgi membrane|integral to membrane	palmitoyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9				GBM - Glioblastoma multiforme(50;4.31e-06)		AAAGTGGTAGGGAACTCGCAG	0.488000													21	23					0	0	0.003330	0	0
DMWD	1762	broad.mit.edu	37	19	46289988	46289988	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:46289988G>A	ENST00000270223.6	-	3	811	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L	DMWD_ENST00000377735.3_Silent_p.L256L	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	256					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		TGCTTCAGCAGGCTGTACTGG	0.667000													23	51					0	0	0.003330	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475257	140475257	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140475257C>T	ENST00000194155.4	+	1	1031	c.883C>T	c.(883-885)Cga>Tga	p.R295*		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		295	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAAACGTTTCGATTAAGTGC	0.428000													5	27					0	0	0.001168	0	0
RBM47	54502	broad.mit.edu	37	4	40440173	40440173	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:40440173C>T	ENST00000319592.4	-	4	1447	c.738G>A	c.(736-738)aaG>aaA	p.K246K	RBM47_ENST00000381793.2_Silent_p.K246K|RBM47_ENST00000514014.1_Silent_p.K208K|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Silent_p.K246K|RBM47_ENST00000381795.6_Silent_p.K246K			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	246	RRM 3.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGTAGAGGATCTTCACGGTCT	0.612000													34	32					0	0	0.006230	0	0
SORCS3	22986	broad.mit.edu	37	10	106865208	106865208	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:106865208G>A	ENST00000369701.3	+	7	1374	c.1147G>A	c.(1147-1149)Ggg>Agg	p.G383R		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	383						integral to membrane	neuropeptide receptor activity	p.G383W(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AACTAGAAGTGGGCCTTTTGC	0.473000													21	41					0	0	0.012319	0	0
ANKRD35	148741	broad.mit.edu	37	1	145562600	145562600	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:145562600C>T	ENST00000355594.4	+	10	2375	c.2288C>T	c.(2287-2289)cCg>cTg	p.P763L		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	763										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCTTGTCCCCGTGTAGGGAG	0.657000													3	9					0	0	0.004672	0	0
MYH8	4626	broad.mit.edu	37	17	10321993	10321993	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:10321993G>A	ENST00000403437.2	-	5	574	c.480C>T	c.(478-480)atC>atT	p.I160I	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	160	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CATTGTCAGAGATGGAGAAGA	0.517000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				53	55					0	0	0.014410	0	0
CCBE1	147372	broad.mit.edu	37	18	57107039	57107039	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:57107039C>T	ENST00000439986.4	-	8	822	c.785G>A	c.(784-786)gGa>gAa	p.G262E	CCBE1_ENST00000398179.2_Intron	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	262	Collagen-like 1.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				TCCCTTTGGTCCTGGTGAGCC	0.597000													9	33					0	0	0.008291	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502505	140502505	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140502505G>A	ENST00000194152.1	+	1	925	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		309	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTGGATTTCGAAAAAATTAA	0.358000													22	78					0	0	0.012319	0	0
PPFIA2	8499	broad.mit.edu	37	12	81734885	81734885	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:81734885G>A	ENST00000550584.2	-	19	2660	c.2365C>T	c.(2365-2367)Cct>Tct	p.P789S	PPFIA2_ENST00000548586.1_Missense_Mutation_p.P789S|PPFIA2_ENST00000541570.2_Missense_Mutation_p.P356S|PPFIA2_ENST00000550359.2_Missense_Mutation_p.P636S|PPFIA2_ENST00000549396.1_Missense_Mutation_p.P789S|PPFIA2_ENST00000552948.1_Missense_Mutation_p.P789S|PPFIA2_ENST00000549325.1_Missense_Mutation_p.P771S|PPFIA2_ENST00000443686.3_Missense_Mutation_p.P690S|PPFIA2_ENST00000333447.7_Missense_Mutation_p.P771S|PPFIA2_ENST00000541017.1_Missense_Mutation_p.P6S|PPFIA2_ENST00000407050.4_Missense_Mutation_p.P715S|PPFIA2_ENST00000545296.2_Intron	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	715										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TAGGAAGAAGGGAGAGTGTGA	0.473000													31	21					0	0	0.012213	0	0
ACSBG1	23205	broad.mit.edu	37	15	78466727	78466727	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:78466727C>T	ENST00000258873.4	-	12	2047	c.1842_splice	c.e12+1	p.K614_splice	ACSBG1_ENST00000541759.1_Splice_Site_p.K372_splice|ACSBG1_ENST00000560817.1_Splice_Site_p.K372_splice	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	614					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CCAGACACACCTTCAAGGTGA	0.597000													5	31					0	0	0.001168	0	0
IMP3	55272	broad.mit.edu	37	15	75931965	75931965	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:75931965A>G	ENST00000314852.2	-	2	1488	c.545T>C	c.(544-546)cTg>cCg	p.L182P	IMP3_ENST00000403490.1_Missense_Mutation_p.L182P			Q9NV31	IMP3_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)	182					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding|rRNA binding			large_intestine(1)	1						CTAGGCTTCCAGATCGAAGTC	0.532000													17	36					0	0	0.006122	0	0
ZNF326	284695	broad.mit.edu	37	1	90484280	90484280	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:90484280C>T	ENST00000340281.4	+	9	1254	c.1111C>T	c.(1111-1113)Cgt>Tgt	p.R371C	ZNF326_ENST00000370447.2_Missense_Mutation_p.R282C|ZNF326_ENST00000455342.2_Missense_Mutation_p.R165C	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		AACATCTATTCGTAAGCAACA	0.259000													26	46					0	0	0.012213	0	0
U66061.31	0	broad.mit.edu	37	7	142423703	142423703	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142423703G>A	ENST00000506718.1	+	0	711																											GTGTTGCACAGCCAGCTGCTC	0.532000													8	36					0	0	0.004482	0	0
NLRP12	91662	broad.mit.edu	37	19	54312891	54312891	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:54312891C>T	ENST00000324134.6	-	3	2190	c.2022G>A	c.(2020-2022)ggG>ggA	p.G674G	NLRP12_ENST00000391773.1_Silent_p.G674G|NLRP12_ENST00000391775.3_Silent_p.G674G|NLRP12_ENST00000351894.4_Silent_p.G674G|NLRP12_ENST00000345770.5_Silent_p.G674G|NLRP12_ENST00000354278.3_Silent_p.G674G|NLRP12_ENST00000391772.1_Silent_p.G674G|NLRP12_ENST00000535162.1_Silent_p.G674G	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	674					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CGCGGTCTTCCCCGTCCGCGC	0.612000													13	27					0	0	0.013537	0	0
SHANK2	22941	broad.mit.edu	37	11	70336376	70336376	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:70336376C>T	ENST00000409530.1	-	8	788	c.789G>A	c.(787-789)aaG>aaA	p.K263K	SHANK2_ENST00000449116.2_Silent_p.K254K|SHANK2_ENST00000409161.1_Intron|SHANK2_ENST00000449833.2_Intron|SHANK2_ENST00000338508.4_Intron|SHANK2_ENST00000357171.3_Silent_p.K264K|SHANK2_ENST00000423696.2_Intron			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	473	PDZ.				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGCCACACTTCTTACCTATTG	0.572000													23	38					0	0	0.004656	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24922358	24922358	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:24922358G>A	ENST00000396432.2	-	6	899	c.413C>T	c.(412-414)tCc>tTc	p.S138F		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	137	PDZ.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						AATTACTTGGGAATAGGTTTT	0.318000													12	24					0	0	0.002450	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31967317	31967317	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:31967317C>T	ENST00000357886.4	-	9	1252	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K	CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.E263K|CDK5RAP1_ENST00000339269.5_Intron|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.E353K|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.E353K			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	367					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						ATCCTCATTTCAGGATCTACT	0.463000													4	31					0	0	0.009096	0	0
NLRP7	199713	broad.mit.edu	37	19	55451341	55451341	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55451341G>A	ENST00000588756.1	-	6	1332	c.846C>T	c.(844-846)ctC>ctT	p.L282L	NLRP7_ENST00000448121.2_Silent_p.L282L|NLRP7_ENST00000592784.1_Silent_p.L282L|NLRP7_ENST00000590030.1_Silent_p.L282L|NLRP7_ENST00000340844.2_Silent_p.L282L|NLRP7_ENST00000328092.5_Silent_p.L282L|NLRP7_ENST00000446217.1_Silent_p.L310L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	282	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AACTCCCCAGGAGGACGGGCA	0.632000													15	31					0	0	0.003163	0	0
CCDC88C	440193	broad.mit.edu	37	14	91749831	91749831	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:91749831G>A	ENST00000389857.6	-	26	4558	c.4472C>T	c.(4471-4473)tCc>tTc	p.S1491F	CCDC88C_ENST00000331194.7_Missense_Mutation_p.S15F	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1491					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TCTGTGTGGGGAGCCTCGCTT	0.602000													5	8					0	0	0.001984	0	0
SCN5A	6331	broad.mit.edu	37	3	38663953	38663953	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:38663953G>A	ENST00000413689.1	-	4	613	c.420C>T	c.(418-420)acC>acT	p.T140T	SCN5A_ENST00000449557.2_Silent_p.T140T|SCN5A_ENST00000451551.2_Silent_p.T140T|SCN5A_ENST00000425664.1_Silent_p.T140T|SCN5A_ENST00000423572.2_Silent_p.T140T|SCN5A_ENST00000450102.2_Silent_p.T140T|SCN5A_ENST00000455624.2_Silent_p.T140T|SCN5A_ENST00000414099.2_Silent_p.T140T|SCN5A_ENST00000333535.4_Silent_p.T140T|SCN5A_ENST00000443581.1_Silent_p.T140T	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	140					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGGTGAGGATGGTGCACATGA	0.627000													3	7					0	0	0.000602	0	0
MECOM	2122	broad.mit.edu	37	3	168833916	168833916	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:168833916G>T	ENST00000464456.1	-	7	2380	c.1180C>A	c.(1180-1182)Ctt>Att	p.L394I	MECOM_ENST00000494292.1_Missense_Mutation_p.L582I|MECOM_ENST00000264674.3_Missense_Mutation_p.L459I|MECOM_ENST00000392736.3_Missense_Mutation_p.L394I|MECOM_ENST00000468789.1_Missense_Mutation_p.L394I|MECOM_ENST00000472280.1_Missense_Mutation_p.L395I|MECOM_ENST00000460814.1_Missense_Mutation_p.L394I|MECOM_ENST00000433243.2_Missense_Mutation_p.L395I	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ACATCATCAAGGTCACTACTC	0.473000													11	82					2.27111e-07	2.47339e-07	0.013537	1	0
ZBTB8A	653121	broad.mit.edu	37	1	33058852	33058852	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:33058852T>C	ENST00000373510.4	+	3	549	c.320T>C	c.(319-321)aTg>aCg	p.M107T	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.M107T	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						TTCCTTCAGATGACTGATGTC	0.373000													36	77					0	0	0.003755	0	0
TMEM130	222865	broad.mit.edu	37	7	98452871	98452871	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:98452871G>A	ENST00000450876.1	-	5	1858	c.543C>T	c.(541-543)ttC>ttT	p.F181F	TMEM130_ENST00000339375.4_Silent_p.F265F|TMEM130_ENST00000416379.2_Silent_p.F265F|TMEM130_ENST00000546258.1_Silent_p.F246F|TMEM130_ENST00000345589.4_Silent_p.F163F			Q8N3G9	TM130_HUMAN	transmembrane protein 130	265	PKD.					Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACCTCCCCAGGAAGTTCAAGG	0.572000													30	46					0	0	0.013726	0	0
DNAH8	1769	broad.mit.edu	37	6	38905821	38905821	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:38905821G>A	ENST00000359357.3	+	76	11238	c.10984G>A	c.(10984-10986)Gaa>Aaa	p.E3662K	DNAH8_ENST00000441566.1_Missense_Mutation_p.E3626K|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.E3879K					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						TGAGGTAAGTGAAAAGTTGCA	0.498000													23	41					0	0	0.014323	0	0
SYCE1	93426	broad.mit.edu	37	10	135367795	135367795	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:135367795C>T	ENST00000368517.3	-	13	986	c.848G>A	c.(847-849)tGa>tAa	p.*283*	SYCE1_ENST00000432597.2_Silent_p.*283*|SPRN_ENST00000541506.1_Intron	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	0	Gln-rich.				cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CCTCTCTCTTCAACTCCACCA	0.473000													16	45					0	0	0.008871	0	0
SNRK	54861	broad.mit.edu	37	3	43388868	43388868	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:43388868C>T	ENST00000296088.7	+	7	1421	c.1117C>T	c.(1117-1119)Ctt>Ttt	p.L373F	SNRK_ENST00000437827.1_Missense_Mutation_p.L167F|RP11-188P20.3_ENST00000607513.1_RNA|SNRK_ENST00000429705.2_Missense_Mutation_p.L373F|SNRK_ENST00000454177.1_Missense_Mutation_p.L373F	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	373					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		ACCCCAGGACCTTGAGGATGA	0.502000													31	128					0	0	0.010818	0	0
PKD1L1	168507	broad.mit.edu	37	7	47930266	47930266	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:47930266G>A	ENST00000289672.2	-	16	2599	c.2549C>T	c.(2548-2550)tCc>tTc	p.S850F		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	850	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGCCTCAAAGGAAACAGTGGG	0.582000													10	39					0	0	0.006214	0	0
SLC30A10	55532	broad.mit.edu	37	1	220091654	220091654	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:220091654C>T	ENST00000366926.3	-	3	1062	c.901G>A	c.(901-903)Gag>Aag	p.E301K	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.E56K	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	301					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		GCAGCGGTCTCCTTGATAAGC	0.468000													39	92					0	0	0.006999	0	0
SEC62	7095	broad.mit.edu	37	3	169700524	169700524	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:169700524C>T	ENST00000337002.4	+	4	339	c.281C>T	c.(280-282)gCc>gTc	p.A94V	SEC62-AS1_ENST00000479626.1_RNA|SEC62_ENST00000480708.1_Missense_Mutation_p.A94V	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	94					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						TTTCACCGAGCCCTAAAAGTA	0.323000													8	66					0	0	0.003080	0	0
LRFN5	145581	broad.mit.edu	37	14	42360456	42360456	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:42360456G>A	ENST00000298119.4	+	4	2578	c.1389G>A	c.(1387-1389)atG>atA	p.M463I	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	463	Fibronectin type-III.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CCCTCAGAATGATACCTCCTA	0.363000										HNSCC(30;0.082)			8	26					0	0	0.003080	0	0
PSG9	5678	broad.mit.edu	37	19	43762142	43762142	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:43762142C>T	ENST00000244293.7	-	4	1242	c.1176G>A	c.(1174-1176)ctG>ctA	p.L392L	PSG9_ENST00000443718.3_Intron|PSG9_ENST00000270077.3_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000596730.1_Silent_p.L299L			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	0	Ig-like C2-type 3.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CTACCTTTTTCAGGCCAGACA	0.478000													4	2					0	0	0.009096	0	0
GPR50	9248	broad.mit.edu	37	X	150349680	150349680	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:150349680C>T	ENST00000218316.3	+	2	1694	c.1625C>T	c.(1624-1626)tCc>tTc	p.S542F		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	542	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTCTGCCTCCCATTGCCCC	0.637000													36	13					0	0	0.004289	0	0
OR10H3	26532	broad.mit.edu	37	19	15852975	15852975	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15852975C>T	ENST00000305892.1	+	1	773	c.773C>T	c.(772-774)tCc>tTc	p.S258F		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						AGTTTTGCCTCCCTTATCTAC	0.512000													36	61					0	0	0.013726	0	0
CBFA2T3	863	broad.mit.edu	37	16	88951529	88951529	+	Missense_Mutation	SNP	C	C	A	rs140507946	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:88951529C>A	ENST00000268679.4	-	7	1438	c.1042G>T	c.(1042-1044)Gcc>Tcc	p.A348S	CBFA2T3_ENST00000327483.5_Missense_Mutation_p.A262S|RP11-830F9.5_ENST00000565053.1_RNA|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.A272S|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.A262S|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.A310S	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	348	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		TGGGCCATGGCTATGTCCTCC	0.706000			T	RUNX1	AML								12	31					1.49906e-05	1.62698e-05	0.002450	1	0
RBMS3	27303	broad.mit.edu	37	3	30032613	30032613	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:30032613C>T	ENST00000434693.2	+	14	1917	c.1217C>T	c.(1216-1218)tCa>tTa	p.S406L	RBMS3_ENST00000396583.3_Missense_Mutation_p.S404L|RBMS3_ENST00000383767.2_Missense_Mutation_p.S407L|RBMS3_ENST00000452462.1_Missense_Mutation_p.S391L|RBMS3_ENST00000383766.2_Missense_Mutation_p.S389L|RBMS3_ENST00000456853.1_Missense_Mutation_p.S404L|RBMS3_ENST00000273139.9_Missense_Mutation_p.S391L|RBMS3_ENST00000473799.1_3'UTR	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	407						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				GTGGCACCTTCATCCCAGGAC	0.488000													19	34					0	0	0.010504	0	0
LRP1	4035	broad.mit.edu	37	12	57600440	57600440	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:57600440C>T	ENST00000243077.3	+	76	12241	c.11775C>T	c.(11773-11775)tcC>tcT	p.S3925S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3925					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCACCATCTCCTACCGCAGCC	0.607000													23	14					0	0	0.003954	0	0
LSAMP	4045	broad.mit.edu	37	3	115805178	115805178	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:115805178G>A	ENST00000490035.1	-	2	880	c.381C>T	c.(379-381)atC>atT	p.I127I	LSAMP_ENST00000539563.1_Silent_p.I124I	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	127					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)		TACCTTGTACGATCAAGTAAA	0.443000													5	22					0	0	0.000602	0	0
OR4C3	256144	broad.mit.edu	37	11	48346780	48346780	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:48346780C>T	ENST00000319856.4	+	1	309	c.288C>T	c.(286-288)acC>acT	p.T96T		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTATTGACACCTTTTATTCTT	0.478000													7	101					0	0	0.001855	0	0
MROH8	140699	broad.mit.edu	37	20	35749412	35749412	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:35749412G>A	ENST00000400441.3	-	16	2003	c.2004C>T	c.(2002-2004)ctC>ctT	p.L668L	MROH8_ENST00000217333.8_Silent_p.L497L|MROH8_ENST00000441008.2_Silent_p.L654L					maestro heat-like repeat family member 8																		TTCTGAGGAGGAGAGTCTTTG	0.463000													7	15					0	0	0.003080	0	0
FRK	2444	broad.mit.edu	37	6	116288831	116288831	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:116288831C>T	ENST00000606080.1	-	4	1128	c.682G>A	c.(682-684)Gag>Aag	p.E228K	FRK_ENST00000538210.1_Missense_Mutation_p.E86K	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	228					negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		CGGTCTATCTCCCATTGGTCC	0.418000													5	38					0	0	0.000602	0	0
VWA3B	200403	broad.mit.edu	37	2	98744761	98744761	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:98744761C>T	ENST00000477737.1	+	6	966	c.762C>T	c.(760-762)ctC>ctT	p.L254L	VWA3B_ENST00000435344.1_Silent_p.L254L|VWA3B_ENST00000451075.2_Silent_p.L104L	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	254										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGGAGCTTCTCCTCCAGAGGG	0.493000													34	55					0	0	0.013726	0	0
E2F8	79733	broad.mit.edu	37	11	19246255	19246255	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:19246255G>C	ENST00000527884.1	-	13	2786	c.2554C>G	c.(2554-2556)Ctc>Gtc	p.L852V	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.L852V	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	852					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGACAAAGAGAGTTCCTAAG	0.438000													10	52					0	0	0.013537	0	0
PDE1C	5137	broad.mit.edu	37	7	31855719	31855719	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:31855719C>T	ENST00000396184.3	-	16	1836	c.1632G>A	c.(1630-1632)gaG>gaA	p.E544E	PDE1C_ENST00000396191.1_Silent_p.E544E|PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000321453.7_Silent_p.E544E|PDE1C_ENST00000396193.1_Silent_p.E604E|PDE1C_ENST00000396182.2_Silent_p.E544E	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	544					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTTGCTGCTCCTCTGCGGCCA	0.493000													67	98					0	0	0.014410	0	0
ADAM28	10863	broad.mit.edu	37	8	24187614	24187614	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:24187614G>A	ENST00000265769.4	+	11	1199	c.1089G>A	c.(1087-1089)atG>atA	p.M363I	RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.M110I|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.M363I|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000540823.1_Missense_Mutation_p.M130I|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	363	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TATGTGTGATGGACAAAGCAC	0.468000													27	47					0	0	0.007291	0	0
ILDR2	387597	broad.mit.edu	37	1	166904650	166904650	+	Silent	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:166904650A>C	ENST00000271417.3	-	6	823	c.768T>G	c.(766-768)ccT>ccG	p.P256P	ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000469934.2_Silent_p.P256P|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000529071.1_Silent_p.P237P	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	256						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GGATGGAGTAAGGGCCGGGGA	0.592000													23	42					0	0	0.002780	0	0
PTPRG	5793	broad.mit.edu	37	3	61989031	61989031	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:61989031C>T	ENST00000474889.1	+	4	756	c.379C>T	c.(379-381)Ctt>Ttt	p.L127F	PTPRG_ENST00000295874.10_Missense_Mutation_p.L127F	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	127	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AGTCGCCATCCTTCTGAAAGA	0.438000													15	48					0	0	0.004007	0	0
ADAM33	80332	broad.mit.edu	37	20	3655221	3655221	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:3655221C>T	ENST00000356518.2	-	6	771	c.530G>A	c.(529-531)gGa>gAa	p.G177E	ADAM33_ENST00000379861.4_Missense_Mutation_p.G177E|ADAM33_ENST00000350009.2_Missense_Mutation_p.G177E	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	177					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GCCACAGGTTCCTTTCCAGGT	0.607000													23	76					0	0	0.004656	0	0
MICALCL	84953	broad.mit.edu	37	11	12315394	12315394	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:12315394G>A	ENST00000256186.2	+	3	707	c.416G>A	c.(415-417)aGg>aAg	p.R139K		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	139					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GGGAAGGACAGGAGCTGGACA	0.592000													13	14					0	0	0.013537	0	0
C12orf50	160419	broad.mit.edu	37	12	88379725	88379725	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:88379725C>T	ENST00000298699.2	-	11	1208	c.1028G>A	c.(1027-1029)aGg>aAg	p.R343K	C12orf50_ENST00000550553.1_Missense_Mutation_p.R304K	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	343										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CGCGACAGTCCTGACAGCATC	0.488000													49	35					0	0	0.014410	0	0
PCED1A	64773	broad.mit.edu	37	20	2816919	2816919	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:2816919G>A	ENST00000360652.2	-	7	1385	c.883C>T	c.(883-885)Cag>Tag	p.Q295*	PCED1A_ENST00000356872.3_Nonsense_Mutation_p.Q244*	NM_022760.3	NP_073597.2			PC-esterase domain containing 1A																		TGGCTTCCCTGGAATGGATGA	0.582000													29	69					0	0	0.009535	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751278	26751278	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:26751278C>T	ENST00000396641.2	+	2	707	c.115C>T	c.(115-117)Ctt>Ttt	p.L39F	LRRC3B_ENST00000417744.1_Missense_Mutation_p.L39F|LRRC3B_ENST00000456208.2_Missense_Mutation_p.L39F	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	39	LRRNT.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CAAGGGCTGTCTTTGTTCTTC	0.443000													19	78					0	0	0.007413	0	0
XIRP2	129446	broad.mit.edu	37	2	168107877	168107877	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:168107877C>T	ENST00000409195.1	+	9	10064	c.9975C>T	c.(9973-9975)ttC>ttT	p.F3325F	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.F3103F|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.F3325F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3150					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGAAAATTTCGTGAATGACC	0.448000													19	53					0	0	0.006122	0	0
TG	7038	broad.mit.edu	37	8	133899330	133899330	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:133899330C>T	ENST00000220616.4	+	9	1753	c.1713C>T	c.(1711-1713)ctC>ctT	p.L571L	TG_ENST00000377869.1_Silent_p.L571L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	571					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTGCTTCTCTCCTGGAGCTTC	0.438000													23	35					0	0	0.002780	0	0
TAF1C	9013	broad.mit.edu	37	16	84218584	84218584	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:84218584G>A	ENST00000567759.1	-	2	193	c.11C>T	c.(10-12)cCc>cTc	p.P4L	TAF1C_ENST00000378541.4_Missense_Mutation_p.P4L|TAF1C_ENST00000341690.6_Intron|TAF1C_ENST00000541676.1_Intron|TAF1C_ENST00000566732.1_Missense_Mutation_p.P4L|TAF1C_ENST00000570117.1_Intron	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	4					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GAGGGAGCTGGGGAAGTCCAT	0.597000													6	19					0	0	0.001984	0	0
EPHA7	2045	broad.mit.edu	37	6	93967867	93967867	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:93967867C>T	ENST00000369303.4	-	11	2244	c.2060G>A	c.(2059-2061)gGg>gAg	p.G687E		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	687	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GTCAAACTGCCCCATGATGCT	0.393000													4	47					0	0	0.009096	0	0
SLC38A4	55089	broad.mit.edu	37	12	47172511	47172511	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:47172511G>A	ENST00000447411.1	-	10	972	c.766C>T	c.(766-768)Cac>Tac	p.H256Y	SLC38A4_ENST00000266579.4_Missense_Mutation_p.H256Y	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	256					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CCAACACTGTGATCCAAAACA	0.363000													32	17					0	0	0.003755	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325191	150325191	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:150325191C>T	ENST00000328902.5	-	3	711	c.495G>A	c.(493-495)aaG>aaA	p.K165K	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	165							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGGTCTTCCTTCCGGGTGA	0.627000													41	70					0	0	0.010771	0	0
XRRA1	143570	broad.mit.edu	37	11	74563124	74563124	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:74563124C>T	ENST00000340360.6	-	13	1481	c.1150G>A	c.(1150-1152)Gca>Aca	p.A384T	XRRA1_ENST00000527087.1_Intron|XRRA1_ENST00000321448.8_Missense_Mutation_p.A109T	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	384					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						TCCTCTTTTGCGATCTGTAAT	0.527000													10	62					0	0	0.006214	0	0
NFX1	4799	broad.mit.edu	37	9	33352709	33352709	+	Silent	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:33352709T>C	ENST00000379540.3	+	17	2783	c.2721T>C	c.(2719-2721)acT>acC	p.T907T	NFX1_ENST00000379521.4_Silent_p.T907T	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	907					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		CATCTAGTACTTATCAAAGGT	0.378000													9	33					0	0	0.008291	0	0
KCNH5	27133	broad.mit.edu	37	14	63246599	63246599	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:63246599G>A	ENST00000322893.7	-	10	2134	c.1866C>T	c.(1864-1866)acC>acT	p.T622T	KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Silent_p.T564T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	622					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CATGGGCAAGGGTGGTTTCCT	0.438000													5	28					0	0	0.001168	0	0
C11orf42	160298	broad.mit.edu	37	11	6232201	6232201	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:6232201G>A	ENST00000316375.2	+	3	981	c.931G>A	c.(931-933)Gac>Aac	p.D311N		NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	311	Pro-rich.									endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCCCCAGGGACCCCGACGG	0.632000													9	20					0	0	0.008291	0	0
COL20A1	57642	broad.mit.edu	37	20	61945238	61945238	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:61945238A>T	ENST00000422202.1	+	17	2442	c.2374A>T	c.(2374-2376)Aaa>Taa	p.K792*	COL20A1_ENST00000326996.6_Nonsense_Mutation_p.K785*|COL20A1_ENST00000358894.6_Nonsense_Mutation_p.K785*|COL20A1_ENST00000435874.1_Nonsense_Mutation_p.K792*			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	785	Fibronectin type-III 6.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGGACCCGAGAAATCCGTGAG	0.667000													5	22					0	0	0.001984	0	0
ZFP64	55734	broad.mit.edu	37	20	50701796	50701796	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:50701796G>A	ENST00000361387.2	-	9	1298	c.1238C>T	c.(1237-1239)cCc>cTc	p.P413L	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Missense_Mutation_p.P194L	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCACTGGAAGGGGGTATCCCC	0.542000													9	10					0	0	0.006214	0	0
KCNH8	131096	broad.mit.edu	37	3	19575008	19575008	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:19575008C>T	ENST00000328405.2	+	16	3007	c.2741C>T	c.(2740-2742)tCt>tTt	p.S914F		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	914						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CACAGCACCTCTGTGTGTCCC	0.522000													26	56					0	0	0.004656	0	0
TACR3	6870	broad.mit.edu	37	4	104510993	104510993	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:104510993G>A	ENST00000304883.2	-	5	1384	c.1244C>T	c.(1243-1245)cCc>cTc	p.P415L	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	415						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TGCATCGTTGGGGTCAAACAC	0.512000													25	112					0	0	0.006320	0	0
LIPF	8513	broad.mit.edu	37	10	90429616	90429616	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:90429616G>A	ENST00000394375.3	+	6	588	c.475G>A	c.(475-477)Gac>Aac	p.D159N	LIPF_ENST00000238983.4_Missense_Mutation_p.D149N|LIPF_ENST00000355843.2_Missense_Mutation_p.D116N	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	149					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		GGCTAAATATGACCTTCCAGC	0.378000													18	73					0	0	0.006122	0	0
ERVFRD-1	405754	broad.mit.edu	37	6	11104936	11104936	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:11104936C>T	ENST00000472091.1	-	2	983	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	ERVFRD-1_ENST00000542862.1_Missense_Mutation_p.R203Q|SMIM13_ENST00000416247.2_Intron	NM_207582.2	NP_997465.1	P60508	EFRD1_HUMAN		203						integral to membrane|plasma membrane|virion		p.R203Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						CCAGAAGTTTCGAGTACTGCA	0.463000													35	77					0	0	0.003755	0	0
SLC6A18	348932	broad.mit.edu	37	5	1239564	1239564	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:1239564G>A	ENST00000324642.3	+	6	855		c.e6-1		SLC6A18_ENST00000296821.4_Intron	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18						cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACTCATTCCAGATGCACATTC	0.567000													13	47					0	0	0.002450	0	0
CCDC88C	440193	broad.mit.edu	37	14	91804373	91804373	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:91804373C>T	ENST00000389857.6	-	10	1112	c.1026G>A	c.(1024-1026)gtG>gtA	p.V342V		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	342					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGTAGAAGTCCACGTCGTGCA	0.612000													10	25					0	0	0.001855	0	0
DNAH17	8632	broad.mit.edu	37	17	76482381	76482381	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:76482381G>A	ENST00000389840.5	-	45	7108	c.6984C>T	c.(6982-6984)tcC>tcT	p.S2328S	DNAH17_ENST00000585328.1_Silent_p.S2337S|RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCTCCCTGGGGGAGTCGGGGG	0.622000													28	14					0	0	0.007291	0	0
NLRC5	84166	broad.mit.edu	37	16	57060342	57060342	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:57060342C>T	ENST00000436936.1	+	6	1712	c.1487C>T	c.(1486-1488)tCc>tTc	p.S496F	NLRC5_ENST00000539144.1_Missense_Mutation_p.S496F|NLRC5_ENST00000262510.6_Missense_Mutation_p.S496F|NLRC5_ENST00000308149.7_Missense_Mutation_p.S496F			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	496	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTGCTGACTTCCTTCTGCGTC	0.577000													16	36					0	0	0.004007	0	0
ROR2	4920	broad.mit.edu	37	9	94486388	94486388	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:94486388G>A	ENST00000375708.3	-	9	2586	c.2388C>T	c.(2386-2388)ttC>ttT	p.F796F	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	796	Pro-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGGCTGTGGGAAGGGCGGGG	0.677000													21	52					0	0	0.003330	0	0
ANKH	56172	broad.mit.edu	37	5	14758692	14758692	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:14758692C>T	ENST00000284268.6	-	3	659	c.329G>A	c.(328-330)gGa>gAa	p.G110E		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	110					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AATGTAGTATCCTAAATCACT	0.398000													20	33					0	0	0.014323	0	0
NCKAP5	344148	broad.mit.edu	37	2	133489315	133489315	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:133489315G>A	ENST00000409261.1	-	17	5811	c.5438C>T	c.(5437-5439)tCc>tTc	p.S1813F	NCKAP5_ENST00000317721.6_Missense_Mutation_p.S1813F|NCKAP5_ENST00000409213.1_Missense_Mutation_p.S494F|NCKAP5_ENST00000405974.3_Missense_Mutation_p.S494F	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1813							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTTACCTGAGGAAGCTGGTTT	0.507000													22	49					0	0	0.014323	0	0
SVEP1	79987	broad.mit.edu	37	9	113192662	113192662	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:113192662C>T	ENST00000401783.2	-	33	5758	c.5422G>A	c.(5422-5424)Ggt>Agt	p.G1808S	SVEP1_ENST00000374469.1_Missense_Mutation_p.G1785S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1808	Sushi 7.				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						ACTTCGGCACCTACTGTATAA	0.408000													7	17					0	0	0.001984	0	0
C1orf173	127254	broad.mit.edu	37	1	75065462	75065462	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:75065462G>A	ENST00000326665.5	-	11	1861	c.1643C>T	c.(1642-1644)tCa>tTa	p.S548L	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.S351L	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	548	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						TGCCTTCTGTGATGAGGTTTC	0.423000													46	66					0	0	0.010771	0	0
SNTG1	54212	broad.mit.edu	37	8	51569490	51569490	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:51569490G>A	ENST00000522124.1	+	14	1532	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	SNTG1_ENST00000518864.1_Missense_Mutation_p.E291K|SNTG1_ENST00000517473.1_Missense_Mutation_p.E291K|SNTG1_ENST00000276467.5_Missense_Mutation_p.E291K	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	291	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GGGCTGGTGTGAAGCCCGGGA	0.453000													13	71					0	0	0.004990	0	0
WWP2	11060	broad.mit.edu	37	16	69922004	69922004	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:69922004C>T	ENST00000359154.2	+	8	867	c.766C>T	c.(766-768)Cca>Tca	p.P256S	WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Missense_Mutation_p.P256S|WWP2_ENST00000569174.1_Missense_Mutation_p.P256S|WWP2_ENST00000356003.2_Missense_Mutation_p.P256S|WWP2_ENST00000542271.1_Missense_Mutation_p.P140S	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	256					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGTGACGTCCCCACCTGCTGC	0.532000													36	62					0	0	0.007835	0	0
KMT2B	9757	broad.mit.edu	37	19	36224547	36224547	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:36224547C>T	ENST00000420124.1	+	29	7009	c.7009C>T	c.(7009-7011)Ctg>Ttg	p.L2337L	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Silent_p.L2337L																							GGTCCTTGACCTGGATCGGCC	0.657000													4	9					0	0	0.001168	0	0
IMPA2	3613	broad.mit.edu	37	18	12012207	12012207	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:12012207G>A	ENST00000269159.3	+	4	616	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	IMPA2_ENST00000588752.1_3'UTR|IMPA2_ENST00000588927.1_5'UTR|IMPA2_ENST00000589238.1_5'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	125					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	TTTGCTGTTCGACAAGAGGTG	0.582000													30	136					0	0	0.004289	0	0
BMPR2	659	broad.mit.edu	37	2	203420895	203420895	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:203420895C>T	ENST00000374580.4	+	12	3046	c.2507C>T	c.(2506-2508)aCc>aTc	p.T836I	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	836					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GGCCAAACAACCAACATAGTG	0.468000													22	32					0	0	0.012319	0	0
SLC29A4	222962	broad.mit.edu	37	7	5338676	5338676	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:5338676G>A	ENST00000396872.2	+	8	1101	c.940G>A	c.(940-942)Gag>Aag	p.E314K	SLC29A4_ENST00000406453.3_Missense_Mutation_p.E300K|SLC29A4_ENST00000297195.4_Missense_Mutation_p.E314K	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	314					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		CCCAGCCCACGAGGTGACCGG	0.692000													8	13					0	0	0.003080	0	0
SRGAP3	9901	broad.mit.edu	37	3	9089102	9089102	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:9089102C>T	ENST00000383836.3	-	10	1808	c.1381G>A	c.(1381-1383)Gat>Aat	p.D461N	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.D461N	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	461					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TTGAGTAAATCGTGCTTGGCC	0.547000			T	RAF1	pilocytic astrocytoma								6	58					0	0	0.001984	0	0
P2RY12	64805	broad.mit.edu	37	3	151056296	151056296	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:151056296G>A	ENST00000302632.3	-	3	637	c.338C>T	c.(337-339)tCa>tTa	p.S113L	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	113					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	TCCCAGGAATGAAATACTGAT	0.403000													15	62					0	0	0.003163	0	0
LRP2BP	55805	broad.mit.edu	37	4	186295301	186295301	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:186295301C>T	ENST00000362004.3	-	5	1384	c.573G>A	c.(571-573)aaG>aaA	p.K191K	LRP2BP_ENST00000328559.7_Silent_p.K189K|LRP2BP_ENST00000510776.1_Silent_p.K163K|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000505916.1_Silent_p.K189K			Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	189						cytoplasm	protein binding			breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		TTTCTAACTCCTTGGGCTCCT	0.403000													19	21					0	0	0.008871	0	0
SERPINB12	89777	broad.mit.edu	37	18	61232681	61232681	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:61232681G>A	ENST00000382768.1	+	6	709	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	SERPINB12_ENST00000269491.1_Missense_Mutation_p.E217K			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	217					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						ACTACAGAATGAAAACAAGAG	0.483000													18	62					0	0	0.007413	0	0
CHRNA1	1134	broad.mit.edu	37	2	175622373	175622373	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:175622373G>A	ENST00000348749.5	-	4	342	c.265C>T	c.(265-267)Cca>Tca	p.P89S	CHRNA1_ENST00000409323.1_Missense_Mutation_p.P89S|CHRNA1_ENST00000261007.5_Missense_Mutation_p.P114S|CHRNA1_ENST00000409219.1_Missense_Mutation_p.P89S|CHRNA1_ENST00000409542.1_Intron|AC018890.6_ENST00000442996.1_RNA	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	114					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						TAGTCATCTGGATTCCATTTT	0.393000													17	36					0	0	0.008871	0	0
PTGFR	5737	broad.mit.edu	37	1	79002314	79002314	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:79002314C>T	ENST00000370757.3	+	3	1259	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F	PTGFR_ENST00000370756.3_3'UTR|PTGFR_ENST00000370758.1_Missense_Mutation_p.S341F	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	341					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	ATTAAAAATTCCTTAAAGGTT	0.408000													14	26					0	0	0.002450	0	0
CACNA1F	778	broad.mit.edu	37	X	49081361	49081361	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:49081361G>A	ENST00000376265.2	-	14	1833	c.1772C>T	c.(1771-1773)tCc>tTc	p.S591F	CACNA1F_ENST00000323022.5_Missense_Mutation_p.S580F|CACNA1F_ENST00000376251.1_Missense_Mutation_p.S526F	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	591					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GTTGAAGAAGGAAGACACATA	0.552000													3	4					0	0	0.000602	0	0
CDH18	1016	broad.mit.edu	37	5	19473628	19473628	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:19473628C>T	ENST00000507958.1	-	15	3070	c.2080G>A	c.(2080-2082)Gaa>Aaa	p.E694K	CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.E694K|CDH18_ENST00000274170.4_Missense_Mutation_p.E694K			Q13634	CAD18_HUMAN	cadherin 18, type 2	694					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGCTTCACTTCAGGTCTGATA	0.507000													18	18					0	0	0.004990	0	0
FYN	2534	broad.mit.edu	37	6	112025283	112025283	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:112025283G>A	ENST00000354650.3	-	7	1072	c.466C>T	c.(466-468)Cga>Tga	p.R156*	FYN_ENST00000229470.5_Nonsense_Mutation_p.R107*|FYN_ENST00000476769.2_5'UTR|FYN_ENST00000368667.2_Nonsense_Mutation_p.R156*|FYN_ENST00000368682.3_Nonsense_Mutation_p.R156*|FYN_ENST00000229471.4_Nonsense_Mutation_p.R156*|FYN_ENST00000538466.1_Nonsense_Mutation_p.R156*|FYN_ENST00000368678.4_Nonsense_Mutation_p.R156*|FYN_ENST00000356013.2_Nonsense_Mutation_p.R156*	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN oncogene related to SRC, FGR, YES	156	SH2.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	GCATCTTTTCGGCCAAGTTTT	0.383000													18	47					0	0	0.008871	0	0
LY75	4065	broad.mit.edu	37	2	160738809	160738809	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:160738809C>T	ENST00000263636.4	-	7	1099	c.1072G>A	c.(1072-1074)Gat>Aat	p.D358N	LY75_ENST00000554112.1_Missense_Mutation_p.D358N|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.D358N|LY75_ENST00000553424.1_Missense_Mutation_p.D358N|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.D358N	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CAGCGGGTATCTGAGTATGTC	0.388000													11	68					0	0	0.013537	0	0
SPTBN2	6712	broad.mit.edu	37	11	66475083	66475083	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:66475083C>T	ENST00000533211.1	-	13	1888	c.1557G>A	c.(1555-1557)atG>atA	p.M519I	SPTBN2_ENST00000529997.1_Missense_Mutation_p.M519I|SPTBN2_ENST00000309996.2_Missense_Mutation_p.M519I			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	519					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GGGCGGCCACCATCTGCCGCA	0.647000													12	27					0	0	0.013537	0	0
SULT4A1	25830	broad.mit.edu	37	22	44237795	44237795	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:44237795C>T	ENST00000330884.4	-	2	307	c.187G>A	c.(187-189)Gag>Aag	p.E63K	SULT4A1_ENST00000249130.5_Missense_Mutation_p.E63K|SULT4A1_ENST00000540422.1_Intron	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	63					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		TAGACCACCTCCTGCAGCAAG	0.677000													8	24					0	0	0.006214	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642985	1642985	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:1642985G>A	ENST00000399682.1	-	1	383	c.339C>T	c.(337-339)tcC>tcT	p.S113S		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	113	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AACCCCCACAGGAGCCACAGC	0.667000													6	98					0	0	0.013537	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907932	164907932	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:164907932C>T	ENST00000475390.1	-	2	1130	c.687G>A	c.(685-687)ctG>ctA	p.L229L	SLITRK3_ENST00000241274.3_Silent_p.L229L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	229						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GGTTTTCTTCCAGCTGGAGCT	0.448000										HNSCC(40;0.11)			22	30					0	0	0.003954	0	0
CTNNA2	1496	broad.mit.edu	37	2	80136838	80136838	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:80136838G>A	ENST00000466387.1	+	11	1695	c.971G>A	c.(970-972)cGa>cAa	p.R324Q	CTNNA2_ENST00000496558.1_Missense_Mutation_p.R324Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R324Q|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R324Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R358Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R324Q			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	324					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						TCCTGCACGCGAGACGACCGG	0.647000													8	54					0	0	0.003080	0	0
PSKH2	85481	broad.mit.edu	37	8	87076500	87076500	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:87076500C>T	ENST00000276616.2	-	2	620	c.546G>A	c.(544-546)agG>agA	p.R182R	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	182	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			GCTTTAGATTCCTATGAGTTA	0.433000													14	42					0	0	0.002450	0	0
OR4N2	390429	broad.mit.edu	37	14	20296445	20296445	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:20296445C>T	ENST00000315947.1	+	1	838	c.838C>T	c.(838-840)Cct>Tct	p.P280S	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGTGATTTTTCCTTTGTTGAA	0.438000													10	100					0	0	0.006214	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870060	151870060	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:151870060C>T	ENST00000329342.5	+	3	975	c.750C>T	c.(748-750)ttC>ttT	p.F250F		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	250	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAATATTTCGTGCAGGAAA	0.537000													80	24					0	0	0.014410	0	0
SLC5A11	115584	broad.mit.edu	37	16	24873970	24873970	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:24873970G>A	ENST00000347898.3	+	3	806	c.184G>A	c.(184-186)Gga>Aga	p.G62R	SLC5A11_ENST00000545376.1_Missense_Mutation_p.G62R|SLC5A11_ENST00000424767.2_Missense_Mutation_p.G62R|SLC5A11_ENST00000449109.2_5'UTR|SLC5A11_ENST00000569071.1_5'UTR|SLC5A11_ENST00000568579.1_Missense_Mutation_p.G62R|SLC5A11_ENST00000565769.1_5'UTR|SLC5A11_ENST00000567758.1_Missense_Mutation_p.G62R|SLC5A11_ENST00000539472.1_5'UTR	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	62					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CTTCCTGGCTGGAGGGGACAT	0.458000													13	31					0	0	0.003163	0	0
SEMA7A	8482	broad.mit.edu	37	15	74707193	74707193	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:74707193G>A	ENST00000261918.4	-	9	1629	c.1081C>T	c.(1081-1083)Ccg>Tcg	p.P361S	SEMA7A_ENST00000543145.2_Missense_Mutation_p.P347S|SEMA7A_ENST00000542748.1_Missense_Mutation_p.P196S	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	361	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CCAGGCCGCGGGTTGGGAAGG	0.622000													8	46					0	0	0.006214	0	0
TRAV9-2	28677	broad.mit.edu	37	14	22409825	22409825	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:22409825G>A	ENST00000390441.2	+	0	371																											CAGACTCAGCGGTGTACTTCT	0.537000													16	28					0	0	0.004990	0	0
ZNF135	7694	broad.mit.edu	37	19	58578377	58578377	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:58578377C>T	ENST00000506786.1	+	5	953	c.399C>T	c.(397-399)ctC>ctT	p.L133L	ZNF135_ENST00000511556.1_Silent_p.L187L|ZNF135_ENST00000401053.4_Silent_p.L199L|ZNF135_ENST00000313434.5_Silent_p.L175L|ZNF135_ENST00000359978.6_Silent_p.L187L|ZNF135_ENST00000439855.2_Silent_p.L175L			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	187					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ACCCTGATCTCCCACATCAAC	0.522000													6	31					0	0	0.003080	0	0
URAD	646625	broad.mit.edu	37	13	28562651	28562651	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:28562651C>A	ENST00000332715.4	-	1	123	c.124G>T	c.(124-126)Gaa>Taa	p.E42*		NM_001105577.1	NP_001099047.1			ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase																		TCTAAATCTTCCAAATCAGAG	0.458000													6	41					0.00116845	0.00126337	0.001168	1	0
DNAH3	55567	broad.mit.edu	37	16	21073850	21073850	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:21073850T>A	ENST00000261383.3	-	25	3672	c.3673A>T	c.(3673-3675)Aaa>Taa	p.K1225*	DNAH3_ENST00000415178.1_Nonsense_Mutation_p.K1225*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1225	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACAGTTTCTTTTTCCGAGCTG	0.428000													24	50					0	0	0.003330	0	0
SUFU	51684	broad.mit.edu	37	10	104309776	104309776	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:104309776C>T	ENST00000369902.3	+	3	533	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C	SUFU_ENST00000423559.2_Missense_Mutation_p.R123C|SUFU_ENST00000369899.2_Missense_Mutation_p.R123C	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	123					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GTTGACCTTTCGTCTGAAGAG	0.478000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				13	36					0	0	0.004007	0	0
POU2AF1	5450	broad.mit.edu	37	11	111225262	111225262	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:111225262C>T	ENST00000393067.3	-	5	1009	c.495G>A	c.(493-495)ctG>ctA	p.L165L		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	165					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		CTGGGCCCTCCAGCGGGGGCC	0.652000			T	BCL6	NHL								4	23					0	0	0.009096	0	0
FAAH2	158584	broad.mit.edu	37	X	57337090	57337090	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:57337090G>A	ENST00000374900.4	+	3	460	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	114						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GCAGGAAGATGAAGCCACCCT	0.408000										HNSCC(52;0.14)			10	7					0	0	0.006214	0	0
LHFPL4	375323	broad.mit.edu	37	3	9547816	9547816	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:9547816C>T	ENST00000287585.6	-	3	763	c.478G>A	c.(478-480)Ggg>Agg	p.G160R		NM_198560.2	NP_940962.1	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	160						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					GTCTTGGCCCCACACATGTCC	0.627000													23	48					0	0	0.003330	0	0
MED16	10025	broad.mit.edu	37	19	880010	880010	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:880010G>A	ENST00000312090.6	-	8	1430	c.1280C>T	c.(1279-1281)cCc>cTc	p.P427L	MED16_ENST00000395808.3_Missense_Mutation_p.P427L|MED16_ENST00000325464.1_Missense_Mutation_p.P427L|MED16_ENST00000589119.1_Missense_Mutation_p.P427L|MED16_ENST00000606828.1_Intron|MED16_ENST00000269814.4_Missense_Mutation_p.P427L			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	427					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|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)		GTGGACGGCGGGGCCCGCGGT	0.687000													7	15					0	0	0.003080	0	0
TFPI2	7980	broad.mit.edu	37	7	93518426	93518426	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:93518426G>A	ENST00000222543.5	-	3	693	c.381C>T	c.(379-381)tcC>tcT	p.S127S	TFPI2_ENST00000545378.1_Intron|GNGT1_ENST00000455502.1_Intron	NM_006528.3	NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	127	BPTI/Kunitz inhibitor 2.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GACACCCACCGGAAAAGAATT	0.438000													54	68					0	0	0.014410	0	0
FOLR1	2348	broad.mit.edu	37	11	71907035	71907035	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:71907035C>T	ENST00000393679.1	+	5	1024	c.588C>T	c.(586-588)tcC>tcT	p.S196S	FOLR1_ENST00000393681.2_Silent_p.S196S|FOLR1_ENST00000312293.4_Silent_p.S196S|FOLR1_ENST00000393676.3_Silent_p.S196S|RP11-807H22.7_ENST00000378140.3_RNA			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	196					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						GGACTCACTCCTACAAGGTCA	0.557000													25	58					0	0	0.003954	0	0
FSIP2	401024	broad.mit.edu	37	2	186671598	186671598	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:186671598C>T	ENST00000343098.5	+	17	17832	c.17832C>T	c.(17830-17832)ttC>ttT	p.F5944F	FSIP2_ENST00000424728.1_Silent_p.F5855F	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GAAATCAGTTCCCTGGGGGTA	0.403000													16	40					0	0	0.004990	0	0
CABYR	26256	broad.mit.edu	37	18	21736152	21736152	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:21736152G>A	ENST00000399481.2	+	2	545	c.393G>A	c.(391-393)aaG>aaA	p.K131K	CABYR_ENST00000327201.6_Intron|CABYR_ENST00000399499.1_Intron|CABYR_ENST00000415309.2_Intron|CABYR_ENST00000399496.3_Intron|CABYR_ENST00000581397.1_Intron			O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	229					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					GTTCTGGAAAGGTGCTAGAAG	0.488000													15	24					0	0	0.002450	0	0
DRD2	1813	broad.mit.edu	37	11	113283471	113283471	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:113283471G>A	ENST00000362072.3	-	7	1289	c.945C>T	c.(943-945)ctC>ctT	p.L315L	DRD2_ENST00000355319.2_Silent_p.L317L|DRD2_ENST00000538967.1_Silent_p.L317L|DRD2_ENST00000346454.3_Silent_p.L286L|DRD2_ENST00000544518.1_Silent_p.L314L|DRD2_ENST00000542968.1_Silent_p.L315L	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	315	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GAGTGCTGTGGAGACCATGGT	0.612000													18	37					0	0	0.002780	0	0
RYR2	6262	broad.mit.edu	37	1	237796931	237796931	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:237796931C>T	ENST00000366574.2	+	43	6926	c.6609C>T	c.(6607-6609)ttC>ttT	p.F2203F	RYR2_ENST00000542537.1_Silent_p.F2187F|RYR2_ENST00000360064.6_Silent_p.F2201F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2203	4 X approximate repeats.				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)			TCTGTTACTTCTGTCGTATAA	0.378000													55	121					0	0	0.014410	0	0
TEX15	56154	broad.mit.edu	37	8	30706067	30706067	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:30706067G>A	ENST00000256246.2	-	1	541	c.467C>T	c.(466-468)tCc>tTc	p.S156F		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	156										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATTGGGAAGGAAAAATTACC	0.458000													18	37					0	0	0.004990	0	0
NPR2	4882	broad.mit.edu	37	9	35792814	35792814	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:35792814C>T	ENST00000342694.2	+	1	664	c.409C>T	c.(409-411)Cgt>Tgt	p.R137C		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	137					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TGACCATTATCGTACCCTGGT	0.602000													6	58					0	0	0.003080	0	0
EIF4G1	1981	broad.mit.edu	37	3	184043640	184043640	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:184043640C>T	ENST00000342981.4	+	20	3540	c.3124_splice	c.e20-1	p.S1042_splice	EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000382330.3_Splice_Site_p.S1048_splice|EIF4G1_ENST00000392537.2_Splice_Site_p.S954_splice|EIF4G1_ENST00000350481.5_Splice_Site_p.S877_splice|EIF4G1_ENST00000414031.1_Splice_Site_p.S1001_splice|EIF4G1_ENST00000427845.1_Splice_Site_p.S955_splice|EIF4G1_ENST00000319274.6_Splice_Site_p.S1041_splice|EIF4G1_ENST00000441154.1_Splice_Site_p.S878_splice|EIF4G1_ENST00000352767.3_Splice_Site_p.S1048_splice|EIF4G1_ENST00000411531.1_Splice_Site_p.S1002_splice|EIF4G1_ENST00000346169.2_Splice_Site_p.S1041_splice|EIF4G1_ENST00000434061.2_Splice_Site_p.S846_splice|EIF4G1_ENST00000435046.2_Splice_Site_p.S845_splice|EIF4G1_ENST00000424196.1_Splice_Site_p.S1048_splice	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1041	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTGTGTCAGGCCGTGGACTTC	0.552000													36	137					0	0	0.013114	0	0
RGPD4	285190	broad.mit.edu	37	2	108488514	108488514	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:108488514G>A	ENST00000408999.3	+	20	4131	c.4054G>A	c.(4054-4056)Gaa>Aaa	p.E1352K	RGPD4_ENST00000354986.4_Missense_Mutation_p.E1352K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1352	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CAGTGGTGAGGAAAATGAAAA	0.368000													60	196					0	0	0.014410	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140735401	140735401	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140735401C>T	ENST00000571252.1	+	1	634	c.634C>T	c.(634-636)Ctc>Ttc	p.L212F	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCTCGTTCTCACGGCCTT	0.567000													3	1					0	0	0.004672	0	0
ITPRIP	85450	broad.mit.edu	37	10	106074331	106074331	+	Silent	SNP	G	G	A	rs147963751		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:106074331G>A	ENST00000278071.2	-	3	1931	c.1479C>T	c.(1477-1479)gcC>gcT	p.A493A	ITPRIP_ENST00000337478.1_Silent_p.A493A|ITPRIP_ENST00000358187.2_Silent_p.A493A	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	493						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CCCTGAGCACGGCCTCAGGGA	0.577000													18	47					0	0	0.010504	0	0
ACTN2	88	broad.mit.edu	37	1	236918447	236918447	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:236918447C>T	ENST00000366578.4	+	17	2269	c.2103C>T	c.(2101-2103)ctC>ctT	p.L701L	ACTN2_ENST00000546208.1_Silent_p.L195L|ACTN2_ENST00000542672.1_Silent_p.L701L	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	701					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ACCATCAGCTCATCCAGGAGG	0.537000													51	98					0	0	0.014410	0	0
KRTAP9-2	83899	broad.mit.edu	37	17	39382951	39382951	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:39382951G>A	ENST00000377721.3	+	1	52	c.45G>A	c.(43-45)agG>agA	p.R15R	KRTAP9-2_ENST00000455970.2_Silent_p.R15R	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	15	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament	protein binding			large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCTGCTGCAGGACCACCTGCT	0.622000													22	73					0	0	0.005443	0	0
TTN	7273	broad.mit.edu	37	2	179612279	179612279	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179612279C>T	ENST00000360870.5	-	46	15070	c.14848G>A	c.(14848-14850)Gaa>Aaa	p.E4950K	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1068	Ig-like 30.						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)			TTGTAGTATTCATACACAGTG	0.428000													21	44					0	0	0.002780	0	0
USP6NL	9712	broad.mit.edu	37	10	11505080	11505080	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:11505080G>A	ENST00000379237.1	-	15	2241	c.1847C>T	c.(1846-1848)cCg>cTg	p.P616L	USP6NL_ENST00000277575.5_Missense_Mutation_p.P633L	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	616						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TAGCTGGGACGGATATCGTGC	0.527000													6	24					0	0	0.001984	0	0
ATP2B3	492	broad.mit.edu	37	X	152825335	152825335	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:152825335T>A	ENST00000370186.1	+	16	3058	c.2732T>A	c.(2731-2733)aTg>aAg	p.M911K	ATP2B3_ENST00000263519.4_Missense_Mutation_p.M925K|ATP2B3_ENST00000359149.3_Missense_Mutation_p.M925K|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000393842.1_Missense_Mutation_p.M911K|ATP2B3_ENST00000370181.2_Missense_Mutation_p.M911K|ATP2B3_ENST00000349466.2_Missense_Mutation_p.M925K			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	925					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCCGCACCATGATGAAGAAC	0.637000													13	7					0	0	0.001855	0	0
CADPS	8618	broad.mit.edu	37	3	62451123	62451123	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:62451123G>A	ENST00000383710.4	-	26	3904	c.3555C>T	c.(3553-3555)ttC>ttT	p.F1185F	CADPS_ENST00000357948.3_Silent_p.F1106F|CADPS_ENST00000283269.9_Silent_p.F1146F|CADPS_ENST00000462768.1_5'UTR	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1185	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.F1146F(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AGATAGTAACGAACTAGAAAA	0.358000													47	100					0	0	0.011902	0	0
ZNF292	23036	broad.mit.edu	37	6	87964474	87964474	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:87964474C>T	ENST00000369577.3	+	8	1170	c.1127C>T	c.(1126-1128)tCa>tTa	p.S376L	ZNF292_ENST00000339907.4_Missense_Mutation_p.S371L	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAGACCATTTCATGTTTGTTG	0.403000													21	53					0	0	0.002780	0	0
TSPEAR	54084	broad.mit.edu	37	21	45987759	45987759	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:45987759G>A	ENST00000323084.4	-	2	278	c.213C>T	c.(211-213)ttC>ttT	p.F71F	TSPEAR_ENST00000397916.1_Silent_p.F3F	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	71					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						TGGATGCTGGGAAGCTCATGG	0.557000													9	50					0	0	0.006214	0	0
CFHR2	3080	broad.mit.edu	37	1	196928152	196928152	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:196928152C>T	ENST00000367415.4	+	5	869	c.755C>T	c.(754-756)tCa>tTa	p.S252L	CFHR2_ENST00000367421.3_Missense_Mutation_p.S252L|CFHR2_ENST00000476712.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	252	Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						AAATCTCATTCATTTCGAGCA	0.323000													15	34					0	0	0.006122	0	0
NOX5	79400	broad.mit.edu	37	15	69325563	69325563	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:69325563C>T	ENST00000260364.5	+	6	1048	c.747C>T	c.(745-747)gtC>gtT	p.V249V	NOX5_ENST00000388866.3_Silent_p.V267V|NOX5_ENST00000530406.2_Silent_p.V239V|NOX5_ENST00000448182.3_Silent_p.V221V|NOX5_ENST00000455873.3_Silent_p.V232V			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	267					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GCGCCAGCGTCATGGTGGCCA	0.647000													6	20					0	0	0.001984	0	0
PRDM5	11107	broad.mit.edu	37	4	121720822	121720822	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:121720822G>A	ENST00000264808.3	-	9	1264	c.1024C>T	c.(1024-1026)Cac>Tac	p.H342Y	PRDM5_ENST00000515109.1_Missense_Mutation_p.H311Y|PRDM5_ENST00000428209.2_Missense_Mutation_p.H311Y	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	342					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTACCTGAGTGGGTGATCATA	0.299000													8	11					0	0	0.003080	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208481	140208481	+	Missense_Mutation	SNP	C	C	T	rs138760871		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140208481C>T	ENST00000529310.1	+	1	919	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.R269W|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTTCTGATCGGGATGAAGG	0.398000													13	35					0	0	0.001855	0	0
MORC2	22880	broad.mit.edu	37	22	31331295	31331295	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:31331295G>A	ENST00000215862.4	-	19	2929	c.1566C>T	c.(1564-1566)atC>atT	p.I522I	MORC2_ENST00000397641.2_Silent_p.I584I	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	584							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CTTGGGAGCGGATGGGTGTGG	0.483000													5	26					0	0	0.001984	0	0
DNAH10	196385	broad.mit.edu	37	12	124364269	124364269	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:124364269T>G	ENST00000409039.3	+	49	8226	c.8201T>G	c.(8200-8202)tTc>tGc	p.F2734C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2734					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)		TTTGGAGACTTCCAGATGGCT	0.512000													102	71					0	0	0.014410	0	0
EPHB1	2047	broad.mit.edu	37	3	134920528	134920528	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:134920528C>T	ENST00000398015.3	+	12	2713	c.2343C>T	c.(2341-2343)tcC>tcT	p.S781S	EPHB1_ENST00000493838.1_Silent_p.S342S	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	781	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ACACCAGCTCCTTGGTGAGTC	0.537000													5	23					0	0	0.001984	0	0
PTPRD	5789	broad.mit.edu	37	9	8517893	8517893	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:8517893C>T	ENST00000381196.4	-	18	2041	c.1498G>A	c.(1498-1500)Gat>Aat	p.D500N	PTPRD_ENST00000358503.5_Missense_Mutation_p.D487N|PTPRD_ENST00000537002.1_Missense_Mutation_p.D497N|PTPRD_ENST00000486161.1_Missense_Mutation_p.D500N|PTPRD_ENST00000356435.5_Missense_Mutation_p.D500N|PTPRD_ENST00000397606.3_Missense_Mutation_p.D490N|PTPRD_ENST00000397617.3_Missense_Mutation_p.D490N|PTPRD_ENST00000355233.5_Missense_Mutation_p.D500N|PTPRD_ENST00000360074.4_Missense_Mutation_p.D487N|PTPRD_ENST00000397611.3_Missense_Mutation_p.D497N|PTPRD_ENST00000540109.1_Missense_Mutation_p.D500N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	500	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGGGGACCATCTCCAATTGAG	0.463000										TSP Lung(15;0.13)			13	26					0	0	0.013537	0	0
RLBP1	6017	broad.mit.edu	37	15	89760465	89760465	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:89760465C>T	ENST00000268125.5	-	5	671	c.232G>A	c.(232-234)Gag>Aag	p.E78K		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	78					response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	GCCAGCTCCTCCCCCGAGGCC	0.657000													10	49					0	0	0.010729	0	0
GNAI1	2770	broad.mit.edu	37	7	79818490	79818490	+	Silent	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:79818490T>C	ENST00000351004.3	+	3	619	c.246T>C	c.(244-246)atT>atC	p.I82I	GNAI1_ENST00000490206.1_3'UTR|GNAI1_ENST00000457358.2_Silent_p.I30I	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	82					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						AGTCAATTATTGCTATCATTA	0.413000													10	27					0	0	0.010729	0	0
RBP3	5949	broad.mit.edu	37	10	48387840	48387840	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:48387840C>T	ENST00000224600.4	-	1	3151	c.3038G>A	c.(3037-3039)gGa>gAa	p.G1013E		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1013	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGGCACAATTCCAGGAATGCG	0.602000													10	46					0	0	0.010729	0	0
MUC16	94025	broad.mit.edu	37	19	9090653	9090653	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9090653C>T	ENST00000397910.4	-	1	1365	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	388	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						CCCAACCATTCTGAAGCCAAA	0.507000													15	28					0	0	0.003163	0	0
SCN11A	11280	broad.mit.edu	37	3	38961472	38961472	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:38961472C>T	ENST00000450244.1	-	7	1111	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	SCN11A_ENST00000302328.3_Missense_Mutation_p.E305K|SCN11A_ENST00000444237.2_Missense_Mutation_p.E305K|SCN11A_ENST00000456224.3_Missense_Mutation_p.E305K			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	305					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GGTGAATTTTCTTTCTTTTCA	0.338000													18	37					0	0	0.010504	0	0
XIRP2	129446	broad.mit.edu	37	2	168108325	168108325	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:168108325G>A	ENST00000409195.1	+	9	10512	c.10423G>A	c.(10423-10425)Gaa>Aaa	p.E3475K	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E3253K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E3475K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3300					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTCACCTAAAGAAGTAAGAAA	0.428000													9	26					0	0	0.004482	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558812	140558812	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140558812G>A	ENST00000239444.2	+	1	1442	c.1197G>A	c.(1195-1197)ggG>ggA	p.G399G		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		399	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCTGTGGGGAACTTTTACA	0.463000													12	26					0	0	0.010729	0	0
CTSA	5476	broad.mit.edu	37	20	44523714	44523714	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:44523714C>T	ENST00000372484.3	+	11	1366	c.1084C>T	c.(1084-1086)Ccg>Tcg	p.P362S	CTSA_ENST00000191018.5_Missense_Mutation_p.P344S|CTSA_ENST00000354880.5_Missense_Mutation_p.P345S|CTSA_ENST00000372459.2_Missense_Mutation_p.P344S	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	344					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CCTCAACAACCCGTACGTGCG	0.607000													9	16					0	0	0.006214	0	0
FAT3	120114	broad.mit.edu	37	11	92085960	92085960	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:92085960G>A	ENST00000298047.6	+	1	699	c.682G>A	c.(682-684)Gat>Aat	p.D228N	FAT3_ENST00000541502.1_Missense_Mutation_p.D228N|FAT3_ENST00000409404.2_Missense_Mutation_p.D228N|FAT3_ENST00000525166.1_Missense_Mutation_p.D78N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	228	Cadherin 2.				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)				GAATAGGTATGATCTGGAAAT	0.388000										TCGA Ovarian(4;0.039)			109	335					0	0	0.014410	0	0
CHAMP1	283489	broad.mit.edu	37	13	115089630	115089630	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:115089630C>T	ENST00000361283.1	+	3	622	c.313C>T	c.(313-315)Cct>Tct	p.P105S		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	105	Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										AGAAACAGATCCTGTGAAAAG	0.398000													15	21					0	0	0.004007	0	0
GRM3	2913	broad.mit.edu	37	7	86468644	86468644	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:86468644C>T	ENST00000361669.2	+	4	2913	c.1814C>T	c.(1813-1815)cCc>cTc	p.P605L	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.P197L|GRM3_ENST00000536043.1_Missense_Mutation_p.P477L	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	605					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)	AACAACACACCCTTGGTCAAA	0.483000													20	55					0	0	0.007413	0	0
ENPP4	22875	broad.mit.edu	37	6	46108891	46108891	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:46108891G>A	ENST00000321037.4	+	3	1159	c.929G>A	c.(928-930)cGa>cAa	p.R310Q		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	310						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CATAATGATCGAATTCAGCCC	0.323000													15	28					0	0	0.004990	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306175	2306175	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:2306175G>A	ENST00000290974.2	-	8	2231	c.1892C>T	c.(1891-1893)tCc>tTc	p.S631F	ZFYVE28_ENST00000515312.1_Missense_Mutation_p.S561F|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.S601F|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	631					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GCACTTGTCGGAAGTGGGGGC	0.662000													27	29					0	0	0.005443	0	0
ADNP	23394	broad.mit.edu	37	20	49509502	49509502	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:49509502G>A	ENST00000396029.3	-	5	2316	c.1749C>T	c.(1747-1749)gcC>gcT	p.A583A	ADNP_ENST00000371602.4_Silent_p.A583A|ADNP_ENST00000349014.3_Silent_p.A583A|ADNP_ENST00000396032.3_Silent_p.A583A	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	583						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GATTATTTTGGGCATGGTAAG	0.453000													37	83					0	0	0.004878	0	0
EMR3	84658	broad.mit.edu	37	19	14740983	14740983	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:14740983G>A	ENST00000253673.5	-	14	1780	c.1680C>T	c.(1678-1680)atC>atT	p.I560I	EMR3_ENST00000599900.1_Silent_p.I345I|EMR3_ENST00000344373.4_Silent_p.I508I|EMR3_ENST00000443157.2_Silent_p.I434I	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	560					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TGCAGCCCAGGATGAAGAGCT	0.512000													21	39					0	0	0.010504	0	0
SNX30	401548	broad.mit.edu	37	9	115580005	115580005	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:115580005C>T	ENST00000374232.3	+	3	533	c.369C>T	c.(367-369)gaC>gaT	p.D123D		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	123	PX.				cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TGGAGTTTGACCTGCCAGAAT	0.433000													9	39					0	0	0.004482	0	0
MTMR8	55613	broad.mit.edu	37	X	63555965	63555965	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:63555965G>A	ENST00000374852.3	-	10	1212	c.1145C>T	c.(1144-1146)tCc>tTc	p.S382F	MTMR8_ENST00000478487.1_Intron|MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	382	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						TTACCTTTGGGAAAACTTGTG	0.343000													32	18					0	0	0.004289	0	0
SLC1A2	6506	broad.mit.edu	37	11	35287113	35287113	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:35287113G>A	ENST00000278379.3	-	10	1896	c.1614C>T	c.(1612-1614)gtC>gtT	p.V538V	SLC1A2_ENST00000479543.1_5'UTR|SLC1A2_ENST00000395753.1_Silent_p.V529V|SLC1A2_ENST00000395750.1_Silent_p.V529V|SLC1A2_ENST00000606205.1_Silent_p.V538V	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	538					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	GTGCAGCATAGACACATTGAT	0.388000													39	87					0	0	0.007835	0	0
GP9	2815	broad.mit.edu	37	3	128780916	128780916	+	Missense_Mutation	SNP	C	C	T	rs139914505	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:128780916C>T	ENST00000307395.4	+	3	556	c.334C>T	c.(334-336)Cgc>Tgc	p.R112C		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	112	LRRCT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding			NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	GCTGCAGGTCCGCTGTGCCAG	0.706000													3	10					0	0	0.004672	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529180	5529180	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5529180C>T	ENST00000311659.4	-	2	1756	c.1609G>A	c.(1609-1611)Gaa>Aaa	p.E537K	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	537										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGAGGTGCTTCAGTAGCTAGG	0.577000													25	35					0	0	0.004656	0	0
VLDLR	7436	broad.mit.edu	37	9	2647568	2647568	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:2647568C>T	ENST00000382100.2	+	12	2154	c.1798C>T	c.(1798-1800)Cag>Tag	p.Q600*	VLDLR_ENST00000478776.1_3'UTR|VLDLR_ENST00000382099.2_Nonsense_Mutation_p.Q600*	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	600					cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		AGCGGATATCCAGTGGCCTAA	0.433000													4	29					0	0	0.000602	0	0
OR8H1	219469	broad.mit.edu	37	11	56058264	56058264	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:56058264G>A	ENST00000313022.2	-	1	302	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GCCCATGAAGGAAATATAGTT	0.398000													56	123					0	0	0.014410	0	0
NEB	4703	broad.mit.edu	37	2	152432249	152432249	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:152432249T>G	ENST00000397345.3	-	107	17175	c.16973A>C	c.(16972-16974)gAa>gCa	p.E5658A	NEB_ENST00000172853.10_Missense_Mutation_p.E3957A|NEB_ENST00000603639.1_Missense_Mutation_p.E5658A|NEB_ENST00000427231.2_Missense_Mutation_p.E5658A|NEB_ENST00000604864.1_Missense_Mutation_p.E5658A|NEB_ENST00000409198.1_Missense_Mutation_p.E3957A	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5673					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAGATTAATTTCTGGAGTATC	0.358000													72	205					0	0	0.014410	0	0
HERC4	26091	broad.mit.edu	37	10	69726449	69726449	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:69726449G>A	ENST00000395198.3	-	16	2164	c.1917C>T	c.(1915-1917)gcC>gcT	p.A639A	HERC4_ENST00000412272.2_Silent_p.A639A|HERC4_ENST00000373700.4_Silent_p.A639A|HERC4_ENST00000277817.6_Silent_p.A529A|HERC4_ENST00000395187.2_3'UTR	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	639					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						CCATTCCATAGGCCTGCTGTT	0.289000													5	5					0	0	0.001984	0	0
PTAFR	5724	broad.mit.edu	37	1	28476731	28476731	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:28476731G>A	ENST00000373857.3	-	2	1436	c.802C>T	c.(802-804)Cac>Tac	p.H268Y	PTAFR_ENST00000539896.1_Missense_Mutation_p.H268Y|PTAFR_ENST00000305392.3_Missense_Mutation_p.H268Y	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	268					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		ATGGCCTGGTGGAATTTGCTG	0.552000													18	34					0	0	0.006122	0	0
ZNF445	353274	broad.mit.edu	37	3	44488121	44488121	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:44488121G>A	ENST00000425708.2	-	7	3383	c.3042C>T	c.(3040-3042)acC>acT	p.T1014T	ZNF445_ENST00000396077.2_Silent_p.T1014T			P59923	ZN445_HUMAN	zinc finger protein 445	1014					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		ACCACCTGAAGGTCTTTCCAC	0.478000													22	53					0	0	0.014323	0	0
MXD3	83463	broad.mit.edu	37	5	176734770	176734770	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:176734770C>T	ENST00000423571.2	-	5	581	c.517G>A	c.(517-519)Gag>Aag	p.E173K	MXD3_ENST00000439742.2_Intron|MXD3_ENST00000513063.1_Intron|MXD3_ENST00000427908.2_Intron			Q9BW11	MAD3_HUMAN	MAX dimerization protein 3	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTCAGCCTCGGGGCACTCA	0.692000													5	11					0	0	0.000602	0	0
PDE8B	8622	broad.mit.edu	37	5	76714114	76714114	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:76714114G>A	ENST00000264917.5	+	18	2017	c.1972G>A	c.(1972-1974)Gat>Aat	p.D658N	PDE8B_ENST00000505283.1_Missense_Mutation_p.D123N|PDE8B_ENST00000346042.3_Missense_Mutation_p.D561N|PDE8B_ENST00000342343.4_Missense_Mutation_p.D638N|PDE8B_ENST00000340978.3_Missense_Mutation_p.D611N|PDE8B_ENST00000333194.4_Missense_Mutation_p.D603N	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	658	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CCATGACGTGGATCACCCGGG	0.562000													61	261					0	0	0.014410	0	0
SCN10A	6336	broad.mit.edu	37	3	38739252	38739252	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:38739252G>A	ENST00000449082.2	-	27	5458	c.5459C>T	c.(5458-5460)tCt>tTt	p.S1820F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1820					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)	TGCCTTCAGAGAATCCAACTC	0.443000													36	36					0	0	0.004289	0	0
SLC45A1	50651	broad.mit.edu	37	1	8395530	8395530	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:8395530G>A	ENST00000471889.1	+	6	1862	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Missense_Mutation_p.E527K|SLC45A1_ENST00000289877.8_Missense_Mutation_p.E493K			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	493					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CGTGAAGTATGAGAGCGAGCT	0.647000													31	74					0	0	0.003271	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55381350	55381350	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:55381350G>A	ENST00000398661.2	-	5	570	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000428842.1_Intron|HMGCLL1_ENST00000308161.4_Intron|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.R117C	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	147							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACAGGATAGCGAACTCCTGGA	0.343000													19	58					0	0	0.012319	0	0
CNBD1	168975	broad.mit.edu	37	8	87917373	87917373	+	Silent	SNP	C	C	T	rs146302968	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:87917373C>T	ENST00000518476.1	+	3	274	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	75										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TAAAGTATTCCTGCACCAAAA	0.368000													6	12					0	0	0.003080	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102516140	102516140	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:102516140C>T	ENST00000360184.4	+	76	13769	c.13605C>T	c.(13603-13605)tcC>tcT	p.S4535S	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4535					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACAGCTGGTCCCTGGAGGAGC	0.607000													26	16					0	0	0.004656	0	0
LIMK1	3984	broad.mit.edu	37	7	73513401	73513401	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:73513401C>T	ENST00000418310.1	+	5	633	c.531C>T	c.(529-531)atC>atT	p.I177I	LIMK1_ENST00000491052.1_3'UTR|LIMK1_ENST00000538333.3_Silent_p.I113I|LIMK1_ENST00000336180.2_Silent_p.I147I			P53667	LIMK1_HUMAN	LIM domain kinase 1	147	PDZ.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				CCCCCGTCATCGAGCAGATCC	0.597000													31	109					0	0	0.010818	0	0
LAMA1	284217	broad.mit.edu	37	18	6965358	6965358	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:6965358G>A	ENST00000389658.3	-	50	7217	c.7124C>T	c.(7123-7125)aCc>aTc	p.T2375I		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2375	Laminin G-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTCAAAAGGGTAATGGGTCC	0.458000													16	59					0	0	0.004990	0	0
MRAP2	112609	broad.mit.edu	37	6	84799172	84799172	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:84799172C>T	ENST00000257776.4	+	4	725	c.590C>T	c.(589-591)tCc>tTc	p.S197F		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	197					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						AAGCCACTTTCCCAGACCTCA	0.423000													19	44					0	0	0.010504	0	0
CDH24	64403	broad.mit.edu	37	14	23523522	23523522	+	Missense_Mutation	SNP	G	G	A	rs61976366		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:23523522G>A	ENST00000397359.3	-	6	1059	c.800C>T	c.(799-801)tCc>tTc	p.S267F	CDH24_ENST00000554034.1_Missense_Mutation_p.S267F|CDH24_ENST00000267383.5_Missense_Mutation_p.S267F|CDH24_ENST00000487137.2_Missense_Mutation_p.S267F	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	267	Cadherin 3.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CTCCACCACGGAGAACTGGTA	0.622000													28	61					0	0	0.009535	0	0
KCNK10	54207	broad.mit.edu	37	14	88729616	88729616	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:88729616G>A	ENST00000340700.5	-	2	768	c.317C>T	c.(316-318)gCc>gTc	p.A106V	KCNK10_ENST00000312350.5_Missense_Mutation_p.A111V|KCNK10_ENST00000319231.5_Missense_Mutation_p.A111V	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	106					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						CTTCTCCAAGGCGATGGTATT	0.562000													7	17					0	0	0.001855	0	0
SAGE1	55511	broad.mit.edu	37	X	134993485	134993485	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:134993485G>A	ENST00000535938.1	+	17	2307	c.2140G>A	c.(2140-2142)Gat>Aat	p.D714N	SAGE1_ENST00000324447.3_Missense_Mutation_p.D714N|SAGE1_ENST00000370709.3_Missense_Mutation_p.D714N|SAGE1_ENST00000537770.1_Missense_Mutation_p.D338N	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	714										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AAGTACCAGGGATCTGTGTAT	0.433000													50	16					0	0	0.014410	0	0
SPATA31A3	727830	broad.mit.edu	37	9	40704191	40704191	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:40704191G>A	ENST00000356699.5	+	4	1877	c.1848G>A	c.(1846-1848)agG>agA	p.R616R		NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3																		ACCTGGGAAGGATCCAAGAGT	0.532000													23	86					0	0	0.003330	0	0
MAP1S	55201	broad.mit.edu	37	19	17838325	17838325	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:17838325C>T	ENST00000324096.4	+	5	2283	c.2132C>T	c.(2131-2133)cCc>cTc	p.P711L	MAP1S_ENST00000544059.2_Missense_Mutation_p.P685L|MAP1S_ENST00000597681.1_3'UTR	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	711	Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CCATCCGCCCCCACCAGTGAG	0.701000													7	17					0	0	0.001984	0	0
FBXO40	51725	broad.mit.edu	37	3	121341642	121341642	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:121341642C>T	ENST00000338040.4	+	3	1780	c.1366C>T	c.(1366-1368)Cac>Tac	p.H456Y		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	456					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AGGGGGACTCCACGTGGAGCT	0.522000													11	27					0	0	0.008291	0	0
AFMID	125061	broad.mit.edu	37	17	76201792	76201792	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:76201792C>T	ENST00000409257.5	+	9	807	c.753C>T	c.(751-753)ttC>ttT	p.F251F	AFMID_ENST00000591952.1_Intron|AFMID_ENST00000589664.1_Intron|AFMID_ENST00000588800.1_Intron|AFMID_ENST00000327898.5_Silent_p.F251F	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	arylformamidase	251						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CCCCCGAATTCCACCGACAGT	0.592000													21	11					0	0	0.010504	0	0
CNTN2	6900	broad.mit.edu	37	1	205034309	205034309	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:205034309G>A	ENST00000331830.4	+	13	1898	c.1614G>A	c.(1612-1614)atG>atA	p.M538I		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	538	Ig-like C2-type 6.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACCCCACCATGGACCTCACCT	0.567000													40	77					0	0	0.006999	0	0
SACS	26278	broad.mit.edu	37	13	23908129	23908129	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:23908129G>A	ENST00000382298.3	-	10	10474	c.9886C>T	c.(9886-9888)Cct>Tct	p.P3296S	SACS_ENST00000402364.1_Missense_Mutation_p.P2546S|SACS_ENST00000382292.3_Missense_Mutation_p.P3296S	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3296					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCTCCTTCAGGAACCACAAGC	0.413000													21	25					0	0	0.014323	0	0
FBXW7	55294	broad.mit.edu	37	4	153245389	153245389	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:153245389G>A	ENST00000281708.4	-	11	3031	c.1802C>T	c.(1801-1803)tCt>tTt	p.S601F	FBXW7_ENST00000603841.1_Missense_Mutation_p.S601F|FBXW7_ENST00000393956.3_Missense_Mutation_p.S425F|FBXW7_ENST00000263981.5_Missense_Mutation_p.S521F|FBXW7_ENST00000296555.5_Missense_Mutation_p.S483F|FBXW7_ENST00000603548.1_Missense_Mutation_p.S601F	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	601					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.S601F(2)|p.S362F(1)|p.S521F(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TTTAACTGTAGAATCTGCATT	0.383000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								12	19					0	0	0.003163	0	0
ADH1C	126	broad.mit.edu	37	4	100261858	100261858	+	RNA	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:100261858G>T	ENST00000515683.1	-	0	1189					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CAACATAACAGGGAAGCCATC	0.433000													42	39					7.66079e-34	8.42239e-34	0.010771	1	0
PLA2R1	22925	broad.mit.edu	37	2	160824073	160824073	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:160824073C>A	ENST00000283243.7	-	20	3087	c.2881G>T	c.(2881-2883)Gga>Tga	p.G961*	PLA2R1_ENST00000392771.1_Nonsense_Mutation_p.G961*	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	961					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TATAGCCATCCTTTGGGACAC	0.343000													22	52					1.85244e-09	2.02292e-09	0.003330	1	0
HFE2	148738	broad.mit.edu	37	1	145416699	145416699	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:145416699G>A	ENST00000336751.5	+	4	1282	c.1044G>A	c.(1042-1044)aaG>aaA	p.K348K	HFE2_ENST00000475797.1_Silent_p.K122K|HFE2_ENST00000357836.5_Silent_p.K235K|HFE2_ENST00000497365.1_Silent_p.K122K	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	348					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGCTGTGCAAGGAAGGGCTTC	0.527000													20	37					0	0	0.008871	0	0
TLR4	7099	broad.mit.edu	37	9	120475867	120475867	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:120475867C>T	ENST00000355622.6	+	3	1562	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.F447F	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	487					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AGGAAAACTTCCTTCCAGATA	0.448000													19	28					0	0	0.006122	0	0
IL1RL1	9173	broad.mit.edu	37	2	102957179	102957179	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:102957179C>T	ENST00000311734.2	+	5	840	c.501C>T	c.(499-501)gtC>gtT	p.V167V	IL1RL1_ENST00000393393.3_Silent_p.V167V|IL1RL1_ENST00000233954.1_Silent_p.V167V|IL1RL1_ENST00000409584.1_Silent_p.V167V|IL1RL1_ENST00000404917.2_Silent_p.V50V			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	167	Ig-like C2-type 2.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CATTTTTGGTCATTGATAATG	0.393000													19	60					0	0	0.008871	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140307560	140307560	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140307560C>T	ENST00000253807.2	+	1	1083	c.1083C>T	c.(1081-1083)ctC>ctT	p.L361L	PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.L361L|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATTGCTCTCTTTAGTGTAA	0.512000													13	30					0	0	0.001855	0	0
ASB15	142685	broad.mit.edu	37	7	123269336	123269336	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:123269336G>A	ENST00000451558.1	+	12	1809	c.1288G>A	c.(1288-1290)Gta>Ata	p.V430I	ASB15_ENST00000434204.1_Missense_Mutation_p.V430I|ASB15_ENST00000275699.3_Missense_Mutation_p.V430I|ASB15_ENST00000540573.1_Missense_Mutation_p.V430I|ASB15_ENST00000451215.1_Missense_Mutation_p.V430I			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	430					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AAACGACGAGGTAATGCTGAG	0.423000													46	67					0	0	0.014410	0	0
HS6ST2	90161	broad.mit.edu	37	X	131762506	131762506	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:131762506C>T	ENST00000370836.2	-	4	1978	c.1563G>A	c.(1561-1563)ctG>ctA	p.L521L	HS6ST2_ENST00000406696.3_Silent_p.L247L|HS6ST2_ENST00000521489.1_Silent_p.L561L|HS6ST2_ENST00000370833.2_Silent_p.L415L|HS6ST2_ENST00000370837.1_Silent_p.L375L	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	521						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GCCTTCCCTTCAGAAATTTGC	0.498000													35	17					0	0	0.013726	0	0
IGSF10	285313	broad.mit.edu	37	3	151164712	151164712	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:151164712C>T	ENST00000282466.3	-	4	3056	c.3057G>A	c.(3055-3057)agG>agA	p.R1019R		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1019					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAATCCGCCCCCTTCCGCCAA	0.478000													7	55					0	0	0.001984	0	0
COL24A1	255631	broad.mit.edu	37	1	86210408	86210408	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:86210408C>T	ENST00000370571.2	-	57	4979	c.4613G>A	c.(4612-4614)cGa>cAa	p.R1538Q	COL24A1_ENST00000436319.1_Missense_Mutation_p.R1517Q	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1538	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)		TGGGTTATCTCGTGTGCCAAG	0.368000													27	49					0	0	0.007291	0	0
OR4C6	219432	broad.mit.edu	37	11	55433219	55433219	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:55433219C>T	ENST00000314259.3	+	1	606	c.577C>T	c.(577-579)Ctg>Ttg	p.L193L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CACCCACATCCTGGGCCTCTT	0.438000													21	52					0	0	0.010504	0	0
PIGR	5284	broad.mit.edu	37	1	207108075	207108075	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:207108075C>T	ENST00000356495.4	-	6	1578	c.1395G>A	c.(1393-1395)aaG>aaA	p.K465K		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	465	Ig-like V-type 5.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCCCTGGTACCTTGAGGTTTG	0.507000													8	17					0	0	0.006214	0	0
CHRM3	1131	broad.mit.edu	37	1	240072190	240072190	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:240072190G>A	ENST00000255380.4	+	5	2218	c.1439G>A	c.(1438-1440)aGg>aAg	p.R480K		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	480					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	AAGCGGAAAAGGATGTCCCTG	0.527000													16	50					0	0	0.004990	0	0
CLDN11	5010	broad.mit.edu	37	3	170140970	170140970	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:170140970C>T	ENST00000064724.3	+	2	448	c.246C>T	c.(244-246)cgC>cgT	p.R82R	CLDN11_ENST00000489485.1_3'UTR|CLDN11_ENST00000486975.1_Silent_p.R82R|CLDN11_ENST00000451576.1_Silent_p.R82R	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	82					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AGGCCTGCCGCGCCCTGATGA	0.597000													30	113					0	0	0.004289	0	0
GLRA1	2741	broad.mit.edu	37	5	151202345	151202345	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:151202345C>T	ENST00000274576.4	-	9	1531	c.1239G>A	c.(1237-1239)aaG>aaA	p.K413K	GLRA1_ENST00000545569.1_Silent_p.K330K|GLRA1_ENST00000455880.2_Silent_p.K421K	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	421					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGTCGATCTTCTTGGCCCTCT	0.507000													16	58					0	0	0.004990	0	0
TENM4	26011	broad.mit.edu	37	11	78467953	78467953	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:78467953G>A	ENST00000278550.7	-	19	3115	c.2653C>T	c.(2653-2655)Cct>Tct	p.P885S		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TGTGACACAGGGACCTGTGTC	0.587000													13	23					0	0	0.002450	0	0
EXOC4	60412	broad.mit.edu	37	7	132959761	132959761	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:132959761C>T	ENST00000253861.4	+	2	140	c.111C>T	c.(109-111)gtC>gtT	p.V37V	EXOC4_ENST00000539845.1_5'UTR|EXOC4_ENST00000393161.2_Silent_p.V37V	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	37					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTGACGATGTCGAAGACAGGG	0.418000													20	30					0	0	0.002780	0	0
POM121L12	285877	broad.mit.edu	37	7	53103787	53103787	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:53103787C>T	ENST00000408890.4	+	1	439	c.423C>T	c.(421-423)atC>atT	p.I141I		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	141										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCATCGGGATCGCGCCCCCTG	0.716000													10	30					0	0	0.008291	0	0
USP17L2	377630	broad.mit.edu	37	8	11995287	11995287	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:11995287C>T	ENST00000333796.3	-	1	1299	c.983G>A	c.(982-984)tGg>tAg	p.W328*	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	328					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GTGACAACTCCACCCAGCGTG	0.488000													6	29					0	0	0.001984	0	0
SAMD4B	55095	broad.mit.edu	37	19	39866354	39866354	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:39866354C>T	ENST00000314471.6	+	7	1767	c.732C>T	c.(730-732)ccC>ccT	p.P244P	SAMD4B_ENST00000596368.1_Silent_p.P244P|SAMD4B_ENST00000598913.1_Silent_p.P244P	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	244							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTACAAGCCCCCAGGTCCCTG	0.612000													57	133					0	0	0.014410	0	0
HTR2A	3356	broad.mit.edu	37	13	47409694	47409694	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:47409694C>T	ENST00000378688.4	-	3	825	c.694G>A	c.(694-696)Gat>Aat	p.D232N	HTR2A_ENST00000543956.1_Missense_Mutation_p.D148N|HTR2A_ENST00000542664.1_Missense_Mutation_p.D232N			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	232					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	p.D232Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ACAAAGTTATCATCGGCGAGT	0.433000													13	22					0	0	0.003163	0	0
FMNL1	752	broad.mit.edu	37	17	43321365	43321365	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:43321365C>T	ENST00000331495.3	+	18	2757	c.2421C>T	c.(2419-2421)ttC>ttT	p.F807F	FMNL1_ENST00000587489.1_Silent_p.F385F|FMNL1_ENST00000328118.3_Silent_p.F807F	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	807	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TGGGCAACTTCCCGGACACAG	0.667000													46	25					0	0	0.014410	0	0
TRAV8-7	28679	broad.mit.edu	37	14	22600917	22600917	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:22600917G>A	ENST00000390456.3	+	0	262																											TAAGAAGAGCGAAACCTCCTT	0.512000													8	45					0	0	0.004482	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045755	142045755	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142045755C>T	ENST00000390392.3	+	0	394																											TCACTTATTCCTTCACCTACA	0.502000													41	168					0	0	0.014410	0	0
RGPD3	653489	broad.mit.edu	37	2	107049619	107049619	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:107049619T>C	ENST00000409886.3	-	16	2415	c.2328A>G	c.(2326-2328)atA>atG	p.I776M	RGPD3_ENST00000304514.7_Missense_Mutation_p.I776M	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	776					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TAGAATGTTTTATTTCTGAAT	0.348000													32	114					0	0	0.014410	0	0
ERCC6L	54821	broad.mit.edu	37	X	71426010	71426010	+	Silent	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:71426010A>T	ENST00000373657.1	-	3	2840	c.2238T>A	c.(2236-2238)ctT>ctA	p.L746L	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Silent_p.L869L			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	869					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TTGATTTGCTAAGTACATAAT	0.373000													6	15					0	0	0.001168	0	0
STRN3	29966	broad.mit.edu	37	14	31381223	31381223	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:31381223G>A	ENST00000355683.5	-	9	1503	c.1288C>T	c.(1288-1290)Cct>Tct	p.P430S	STRN3_ENST00000357479.5_Missense_Mutation_p.P514S	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	460					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TTTTTGGCAGGAACTGTTTTT	0.383000													15	29					0	0	0.004007	0	0
SETD1A	9739	broad.mit.edu	37	16	30982726	30982726	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:30982726C>T	ENST00000262519.8	+	13	3730	c.3044C>T	c.(3043-3045)tCc>tTc	p.S1015F		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1015	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GATTCGTCTTCCAAATGTTCT	0.567000													28	97					0	0	0.012213	0	0
SIRPG	55423	broad.mit.edu	37	20	1629810	1629810	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:1629810G>A	ENST00000381580.1	-	2	398	c.219C>T	c.(217-219)atC>atT	p.I73I	SIRPG_ENST00000344103.4_Silent_p.I106I|SIRPG_ENST00000216927.4_Silent_p.I106I|SIRPG_ENST00000303415.3_Silent_p.I106I|SIRPG_ENST00000381583.2_Silent_p.I106I			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	106	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TGATGCTACTGATGCGGATGG	0.478000													12	103					0	0	0.001855	0	0
SNCAIP	9627	broad.mit.edu	37	5	121780306	121780306	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:121780306G>A	ENST00000261367.7	+	10	3040	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	SNCAIP_ENST00000542191.1_Missense_Mutation_p.E49K|SNCAIP_ENST00000379536.2_Missense_Mutation_p.E431K|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E538K|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.E125K|SNCAIP_ENST00000261368.8_Missense_Mutation_p.E491K|SNCAIP_ENST00000414317.2_Missense_Mutation_p.E93K			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	491					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CCACGCTGGGGAAAAGCCCTC	0.537000													11	37					0	0	0.008291	0	0
FAM47A	158724	broad.mit.edu	37	X	34149069	34149069	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:34149069C>T	ENST00000346193.3	-	1	1378	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	443										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCACAACGATCCCATACGTCC	0.557000													19	8					0	0	0.008871	0	0
SLC38A1	81539	broad.mit.edu	37	12	46591502	46591502	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:46591502C>T	ENST00000398637.5	-	16	2057		c.e16+1		SLC38A1_ENST00000549049.1_Splice_Site|SLC38A1_ENST00000546893.1_Splice_Site|SLC38A1_ENST00000439706.1_Splice_Site|SLC38A1_ENST00000552197.1_Splice_Site	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1						cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			AAGAGACATACCCAAATTCTT	0.343000													36	24					0	0	0.008740	0	0
SQRDL	58472	broad.mit.edu	37	15	45968449	45968449	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:45968449G>A	ENST00000260324.7	+	6	1191	c.805G>A	c.(805-807)Gat>Aat	p.D269N	RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.D269N|SQRDL_ENST00000568606.1_Missense_Mutation_p.D269N	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	269							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		AGTCCGAGCCGATAAACAAGA	0.478000													30	63					0	0	0.003271	0	0
CSMD3	114788	broad.mit.edu	37	8	113392632	113392632	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:113392632A>T	ENST00000297405.5	-	38	6329	c.6085T>A	c.(6085-6087)Ttt>Att	p.F2029I	CSMD3_ENST00000455883.2_Missense_Mutation_p.F1925I|CSMD3_ENST00000352409.3_Missense_Mutation_p.F1959I|CSMD3_ENST00000343508.3_Missense_Mutation_p.F1989I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2029	CUB 11.					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						TCTGATTGAAAATTTAGATAC	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			30	64					0	0	0.013726	0	0
PDZD2	23037	broad.mit.edu	37	5	32087274	32087274	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:32087274G>A	ENST00000438447.1	+	20	4108	c.3720G>A	c.(3718-3720)ggG>ggA	p.G1240G	PDZD2_ENST00000282493.3_Silent_p.G1240G			O15018	PDZD2_HUMAN	PDZ domain containing 2	1240					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTTCCCCAGGGAAGAAGGGGG	0.567000													15	48					0	0	0.003163	0	0
CACNA1B	774	broad.mit.edu	37	9	141010045	141010045	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:141010045G>A	ENST00000277549.5	+	42	5842	c.3273G>A	c.(3271-3273)ctG>ctA	p.L1091L	CACNA1B_ENST00000371372.1_Silent_p.L1897L|CACNA1B_ENST00000371357.1_Silent_p.L1896L|CACNA1B_ENST00000277551.2_Silent_p.L1897L|CACNA1B_ENST00000371363.1_Silent_p.L1895L|CACNA1B_ENST00000371355.4_Silent_p.L1898L			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1897					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AGGCCACCCTGGAGCAGACAC	0.592000													10	115					0	0	0.013537	0	0
PCLO	27445	broad.mit.edu	37	7	82578833	82578833	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82578833C>T	ENST00000423517.2	-	6	11408	c.11071G>A	c.(11071-11073)Gaa>Aaa	p.E3691K	PCLO_ENST00000437081.1_Missense_Mutation_p.E411K|PCLO_ENST00000333891.8_Missense_Mutation_p.E3691K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3622					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.E3691K(1)|p.E3622K(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGGAACTTTCGTCTGCTGTT	0.463000													55	151					0	0	0.014410	0	0
OR2T8	343172	broad.mit.edu	37	1	248084830	248084830	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248084830G>A	ENST00000319968.4	+	1	511	c.511G>A	c.(511-513)Gag>Aag	p.E171K		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	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)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CGGTGCACACGAGATCGATCA	0.557000													4	27					0	0	0.004482	0	0
CXorf22	170063	broad.mit.edu	37	X	35944275	35944275	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:35944275C>T	ENST00000297866.5	+	2	457	c.391C>T	c.(391-393)Cct>Tct	p.P131S		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	131										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AACAGAAATTCCTCTAATTGG	0.318000													6	3					0	0	0.001984	0	0
EPHB1	2047	broad.mit.edu	37	3	134920409	134920409	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:134920409C>A	ENST00000398015.3	+	12	2594	c.2224C>A	c.(2224-2226)Cat>Aat	p.H742N	EPHB1_ENST00000493838.1_Missense_Mutation_p.H303N	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	742	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GAATTATGTGCATCGGGACCT	0.537000													20	136					3.62473e-10	3.96192e-10	0.012319	1	0
VNN2	8875	broad.mit.edu	37	6	133078615	133078615	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:133078615G>A	ENST00000326499.6	-	2	408	c.284C>T	c.(283-285)cCt>cTt	p.P95L	VNN2_ENST00000525270.1_Missense_Mutation_p.P42L|VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525289.1_Missense_Mutation_p.P95L	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	95	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CTCCAGATAAGGGAAAACAGT	0.403000													21	28					0	0	0.008871	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255590	15255590	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:15255590G>A	ENST00000378116.4	-	8	2003	c.1997C>T	c.(1996-1998)tCt>tTt	p.S666F		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	666						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GATGGAGAGAGACTCCGACAT	0.622000													8	28					0	0	0.003080	0	0
SULF2	55959	broad.mit.edu	37	20	46365605	46365605	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:46365605G>T	ENST00000359930.4	-	3	1108	c.257C>A	c.(256-258)cCc>cAc	p.P86H	SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000467815.1_Missense_Mutation_p.P86H|SULF2_ENST00000361612.4_Missense_Mutation_p.P86H|SULF2_ENST00000484875.1_Missense_Mutation_p.P86H	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	86					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GCAGCACATGGGTGTGGTCAC	0.587000													5	41					0.000602214	0.00065137	0.000602	1	0
ACAP2	23527	broad.mit.edu	37	3	195053810	195053810	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:195053810C>T	ENST00000326793.6	-	8	846	c.616G>A	c.(616-618)Gga>Aga	p.G206R		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	206	BAR.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						AGATCATATCCTTGATGAAAG	0.333000													13	56					0	0	0.004007	0	0
FCER1A	2205	broad.mit.edu	37	1	159272208	159272208	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:159272208C>T	ENST00000368115.1	+	2	153	c.55_splice	c.e2+1	p.F18_splice	FCER1A_ENST00000368114.1_Splice_Site_p.F18_splice	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	18						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TACTGTTCTTCGGTAAGTAGA	0.502000													39	88					0	0	0.007835	0	0
FCN2	2220	broad.mit.edu	37	9	137772724	137772724	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:137772724C>T	ENST00000350339.2	+	1	71	c.57C>T	c.(55-57)ttC>ttT	p.F19F	FCN2_ENST00000291744.6_Silent_p.F19F	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	19					complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		TGCTCTCTTTCCTGGGCATGG	0.612000													11	43					0	0	0.010729	0	0
PLAG1	5324	broad.mit.edu	37	8	57079555	57079555	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:57079555G>A	ENST00000316981.3	-	5	1229	c.750C>T	c.(748-750)ttC>ttT	p.F250F	PLAG1_ENST00000423799.2_Silent_p.F168F|PLAG1_ENST00000429357.2_Silent_p.F250F	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	250	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			ATGGGTCAAGGAAATCCACTG	0.443000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								45	105					0	0	0.014410	0	0
DNAH8	1769	broad.mit.edu	37	6	38750810	38750810	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:38750810G>A	ENST00000359357.3	+	15	1893	c.1639G>A	c.(1639-1641)Ggt>Agt	p.G547S	DNAH8_ENST00000441566.1_Missense_Mutation_p.G547S|DNAH8_ENST00000449981.2_Missense_Mutation_p.G764S					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						AAGTCCGGACGGTAAAGCTGT	0.373000													15	46					0	0	0.002450	0	0
MB	4151	broad.mit.edu	37	22	36013288	36013288	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:36013288C>T	ENST00000397326.2	-	1	215	c.17G>A	c.(16-18)gGg>gAg	p.G6E	MB_ENST00000406324.1_Missense_Mutation_p.G6E|MB_ENST00000397328.1_Missense_Mutation_p.G6E|MB_ENST00000359787.1_Missense_Mutation_p.G6E	NM_005368.2	NP_005359.1	P02144	MYG_HUMAN	myoglobin	6							heme binding|oxygen transporter activity			lung(1)	1						CTGCCATTCCCCGTCGCTGAG	0.577000													18	23					0	0	0.006122	0	0
JMJD1C	221037	broad.mit.edu	37	10	64968329	64968329	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:64968329G>A	ENST00000399262.2	-	10	3318	c.3100C>T	c.(3100-3102)Ccc>Tcc	p.P1034S	JMJD1C_ENST00000402544.1_Missense_Mutation_p.P815S|JMJD1C_ENST00000399251.1_Missense_Mutation_p.P815S|JMJD1C_ENST00000542921.1_Missense_Mutation_p.P852S	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1034					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GTTGTAAAGGGAGCAACATCA	0.408000													23	78					0	0	0.002780	0	0
HCFC1	3054	broad.mit.edu	37	X	153222475	153222475	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:153222475G>A	ENST00000310441.7	-	14	3356	c.2390C>T	c.(2389-2391)aCc>aTc	p.T797I	HCFC1_ENST00000369984.4_Missense_Mutation_p.T797I|HCFC1_ENST00000354233.3_Missense_Mutation_p.T728I	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	797	Interaction with ZBTB17.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTGATGATGGTGATGGGGGA	0.602000													58	30					0	0	0.014410	0	0
SIGLECL1	284369	broad.mit.edu	37	19	51768691	51768691	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:51768691G>A	ENST00000316401.7	+	3	473	c.92G>A	c.(91-93)gGg>gAg	p.G31E	SIGLECL1_ENST00000597824.1_Intron|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_Intron	NM_173635.1	NP_775906.1			SIGLEC family like 1																		TCCTTCCATGGGATTCCCACA	0.587000													28	39					0	0	0.008361	0	0
MUC16	94025	broad.mit.edu	37	19	9072251	9072251	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9072251G>A	ENST00000397910.4	-	3	15398	c.15195C>T	c.(15193-15195)tcC>tcT	p.S5065S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5067	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						TCATAGGAGAGGAGAGCTTAT	0.478000													34	73					0	0	0.003755	0	0
C2CD3	26005	broad.mit.edu	37	11	73748573	73748573	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:73748573A>C	ENST00000334126.7	-	30	6057	c.5831T>G	c.(5830-5832)aTc>aGc	p.I1944S	C2CD3_ENST00000313663.7_Missense_Mutation_p.I1944S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1944						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TTTCTCCAGGATACACTGGCT	0.522000													58	101					0	0	0.014410	0	0
FAM71B	153745	broad.mit.edu	37	5	156589953	156589953	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:156589953C>T	ENST00000302938.4	-	2	1418	c.1323G>A	c.(1321-1323)agG>agA	p.R441R		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	441						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGAACTTTTCCTACTGGGAT	0.502000													82	274					0	0	0.014410	0	0
SLC26A3	1811	broad.mit.edu	37	7	107431616	107431616	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:107431616G>A	ENST00000340010.5	-	5	631	c.447C>T	c.(445-447)gtC>gtT	p.V149V	SLC26A3_ENST00000422236.2_Silent_p.V114V	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	149					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TGCGATCTGGGACTGCTTTTG	0.488000													34	49					0	0	0.003271	0	0
SNRK	54861	broad.mit.edu	37	3	43388867	43388867	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:43388867C>T	ENST00000296088.7	+	7	1420	c.1116C>T	c.(1114-1116)gaC>gaT	p.D372D	SNRK_ENST00000437827.1_Silent_p.D166D|RP11-188P20.3_ENST00000607513.1_RNA|SNRK_ENST00000429705.2_Silent_p.D372D|SNRK_ENST00000454177.1_Silent_p.D372D	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	372					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TACCCCAGGACCTTGAGGATG	0.498000													31	130					0	0	0.010818	0	0
KCND2	3751	broad.mit.edu	37	7	119915245	119915245	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:119915245T>C	ENST00000331113.4	+	1	1524	c.559T>C	c.(559-561)Ttc>Ctc	p.F187L		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	187					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GGCCCTGGTGTTCTACTATGT	0.582000													10	29					0	0	0.006214	0	0
RGS6	9628	broad.mit.edu	37	14	72985178	72985178	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:72985178C>T	ENST00000553530.1	+	15	1418	c.1211C>T	c.(1210-1212)tCt>tTt	p.S404F	RGS6_ENST00000555571.1_Missense_Mutation_p.S404F|RGS6_ENST00000343854.6_Missense_Mutation_p.S367F|RGS6_ENST00000434263.2_Missense_Mutation_p.S335F|RGS6_ENST00000553525.1_Missense_Mutation_p.S404F|RGS6_ENST00000554782.1_Missense_Mutation_p.S265F|RGS6_ENST00000404301.2_Missense_Mutation_p.S404F|RGS6_ENST00000406236.4_Missense_Mutation_p.S404F|RGS6_ENST00000556437.1_Missense_Mutation_p.S404F|RGS6_ENST00000355512.6_Missense_Mutation_p.S404F|RGS6_ENST00000402788.2_Missense_Mutation_p.S404F|RGS6_ENST00000407322.4_Missense_Mutation_p.S404F	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	404	RGS.				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|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		AACCTGGATTCTCACAGCTAT	0.453000													22	21					0	0	0.010504	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90502188	90502188	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:90502188G>A	ENST00000325643.5	+	4	2852	c.2786G>A	c.(2785-2787)gGa>gAa	p.G929E		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		GAGCAGGAGGGAGTCCAGAGG	0.622000													15	28					0	0	0.003163	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20368624	20368624	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:20368624C>T	ENST00000593655.1	-	0	199																											AACACATCTTCCCAGCTTTGG	0.458000													13	30					0	0	0.004007	0	0
NUF2	83540	broad.mit.edu	37	1	163295907	163295907	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:163295907C>T	ENST00000271452.3	+	2	345	c.66C>T	c.(64-66)atC>atT	p.I22I	NUF2_ENST00000367900.3_Silent_p.I22I|NUF2_ENST00000524800.1_Silent_p.I22I|NUF2_ENST00000490881.1_3'UTR	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	22	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					GCAATAAGATCTTAACAGGAG	0.363000													20	55					0	0	0.008871	0	0
NINL	22981	broad.mit.edu	37	20	25460820	25460820	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:25460820G>A	ENST00000278886.6	-	15	1967	c.1894C>T	c.(1894-1896)Ctc>Ttc	p.L632F	NINL_ENST00000422516.1_Missense_Mutation_p.L632F	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	632					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TGGGTCCTGAGGTCTTGGTAA	0.547000													11	43					0	0	0.002450	0	0
FAM83B	222584	broad.mit.edu	37	6	54806620	54806620	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:54806620A>G	ENST00000306858.7	+	5	2967	c.2851A>G	c.(2851-2853)Agc>Ggc	p.S951G		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	951										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TCAGCCAACAAGCAACATGCC	0.438000													12	46					0	0	0.010729	0	0
HGF	3082	broad.mit.edu	37	7	81372745	81372745	+	Silent	SNP	G	G	A	rs147312555	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:81372745G>A	ENST00000222390.5	-	7	1015	c.789C>T	c.(787-789)ccC>ccT	p.P263P	HGF_ENST00000457544.2_Silent_p.P258P|HGF_ENST00000453411.1_Silent_p.P258P|HGF_ENST00000444829.2_Silent_p.P263P	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	263	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GCTGGCCATCGGGATTGCGGC	0.493000													9	36					0	0	0.004482	0	0
APLNR	187	broad.mit.edu	37	11	57003729	57003729	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:57003729G>A	ENST00000606794.1	-	1	946	c.750C>T	c.(748-750)atC>atT	p.I250I		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	250						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CCAGCACCACGATGATGCTGA	0.612000													7	20					0	0	0.001984	0	0
CCNB3	85417	broad.mit.edu	37	X	50052150	50052150	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:50052150C>T	ENST00000376042.1	+	6	1279	c.981C>T	c.(979-981)ttC>ttT	p.F327F	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Silent_p.F327F			Q8WWL7	CCNB3_HUMAN	cyclin B3	327					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	p.F327L(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGACACTTTTCCAAGAGCTAT	0.438000													51	22					0	0	0.014410	0	0
GLI4	2738	broad.mit.edu	37	8	144358575	144358575	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:144358575C>A	ENST00000340042.1	+	4	817	c.732C>A	c.(730-732)tgC>tgA	p.C244*	GLI4_ENST00000523812.1_3'UTR|GLI4_ENST00000523522.1_Nonsense_Mutation_p.C244*	NM_138465.3	NP_612474.1	P10075	GLI4_HUMAN	GLI family zinc finger 4	244						nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCGGCCAGTGCGGCCGCGCCT	0.687000													18	22					1.00905e-13	1.10552e-13	0.008871	1	0
SALL1	6299	broad.mit.edu	37	16	51171368	51171368	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:51171368G>A	ENST00000440970.1	-	3	3770	c.3339C>T	c.(3337-3339)ccC>ccT	p.P1113P	SALL1_ENST00000541611.1_Silent_p.P33P|SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000251020.4_Silent_p.P1210P	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1210					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGAACTTGACGGGATTGCCTC	0.557000													9	31					0	0	0.004482	0	0
MXD3	83463	broad.mit.edu	37	5	176734771	176734771	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:176734771G>A	ENST00000423571.2	-	5	580	c.516C>T	c.(514-516)ccC>ccT	p.P172P	MXD3_ENST00000439742.2_Intron|MXD3_ENST00000513063.1_Intron|MXD3_ENST00000427908.2_Intron			Q9BW11	MAD3_HUMAN	MAX dimerization protein 3	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTCAGCCTCGGGGCACTCAC	0.697000													5	10					0	0	0.000602	0	0
ALPK3	57538	broad.mit.edu	37	15	85383221	85383221	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:85383221C>T	ENST00000258888.5	+	5	1484	c.1317C>T	c.(1315-1317)gtC>gtT	p.V439V		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	439					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCCCTCGGTCCCTACCAGGG	0.657000													9	13					0	0	0.004482	0	0
OR52J3	119679	broad.mit.edu	37	11	5068044	5068044	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5068044G>A	ENST00000380370.1	+	1	289	c.289G>A	c.(289-291)Gga>Aga	p.G97R		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATTAACTATGGAGCTTGTGT	0.502000													16	44					0	0	0.006122	0	0
TSPAN2	10100	broad.mit.edu	37	1	115615558	115615558	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:115615558G>A	ENST00000369516.2	-	2	171	c.140C>T	c.(139-141)tCa>tTa	p.S47L	TSPAN2_ENST00000369514.2_Missense_Mutation_p.S47L|TSPAN2_ENST00000369515.2_Missense_Mutation_p.S47L	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	47						integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CTTGTCCTCTGATGATAACTC	0.498000													7	58					0	0	0.006214	0	0
NRM	11270	broad.mit.edu	37	6	30657977	30657977	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:30657977G>A	ENST00000259953.4	-	3	528	c.177C>T	c.(175-177)atC>atT	p.I59I	NRM_ENST00000470733.1_5'UTR|NRM_ENST00000376421.5_Silent_p.I59I|NRM_ENST00000376420.5_Silent_p.I59I	NM_001270707.1	NP_001257636.1	Q8IXM6	NRM_HUMAN	nurim (nuclear envelope membrane protein)	59						integral to membrane|nuclear inner membrane				large_intestine(1)|lung(2)	3						GGGGGGCAAGGATGCTGCGGT	0.562000													27	43					0	0	0.006320	0	0
SMO	6608	broad.mit.edu	37	7	128852256	128852256	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:128852256G>A	ENST00000249373.3	+	12	2608	c.2328G>A	c.(2326-2328)atG>atA	p.M776I	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	776					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCAACCTGATGGACACAGAAC	0.602000			Mis		skin basal cell								5	77					0	0	0.001168	0	0
NES	10763	broad.mit.edu	37	1	156642749	156642749	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:156642749G>A	ENST00000368223.3	-	4	1363	c.1231C>T	c.(1231-1233)Cct>Tct	p.P411S		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	411	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGAGAGAGAGGAGCATCCTGG	0.657000													40	87					0	0	0.007835	0	0
NOTCH4	4855	broad.mit.edu	37	6	32165227	32165227	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:32165227C>T	ENST00000375023.3	-	27	5039	c.4901G>A	c.(4900-4902)gGg>gAg	p.G1634E	NOTCH4_ENST00000443903.2_Missense_Mutation_p.G43E	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1634					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGGGGTCTCCCCAGTGCCCAC	0.697000													81	326					0	0	0.014410	0	0
SDPR	8436	broad.mit.edu	37	2	192701319	192701319	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:192701319G>A	ENST00000304141.4	-	2	937	c.608C>T	c.(607-609)tCc>tTc	p.S203F		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	203						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	ATCATCTGAGGAGAGGTCCAC	0.532000													15	46					0	0	0.003163	0	0
OSBPL3	26031	broad.mit.edu	37	7	24901383	24901383	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:24901383C>T	ENST00000313367.2	-	10	1327	c.876G>A	c.(874-876)ccG>ccA	p.P292P	OSBPL3_ENST00000396431.1_Silent_p.P261P|OSBPL3_ENST00000353930.1_Silent_p.P292P|OSBPL3_ENST00000431825.2_Silent_p.P261P|OSBPL3_ENST00000352860.1_Silent_p.P261P|OSBPL3_ENST00000409069.1_Silent_p.P261P|OSBPL3_ENST00000396429.1_Silent_p.P292P	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	292					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						AAAAAGGTTTCGGGACCTGAA	0.358000													23	31					0	0	0.005443	0	0
PTPRF	5792	broad.mit.edu	37	1	44072119	44072119	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:44072119C>T	ENST00000359947.4	+	20	4032	c.3692C>T	c.(3691-3693)cCc>cTc	p.P1231L	PTPRF_ENST00000372414.3_Missense_Mutation_p.P1231L|PTPRF_ENST00000372413.3_Missense_Mutation_p.P1222L|PTPRF_ENST00000438120.1_Missense_Mutation_p.P1222L|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.P579L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1231					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTGAAGGAACCCATGGACCAG	0.587000													42	111					0	0	0.008740	0	0
PDIA4	9601	broad.mit.edu	37	7	148709376	148709376	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:148709376G>A	ENST00000286091.4	-	5	923	c.691C>T	c.(691-693)Ccc>Tcc	p.P231S		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	231	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TTTGCCAGGGGAATTGGAGGA	0.542000													17	38					0	0	0.004990	0	0
DENND1B	163486	broad.mit.edu	37	1	197704718	197704718	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:197704718G>A	ENST00000235453.4	-	3	327	c.50C>T	c.(49-51)tCg>tTg	p.S17L	DENND1B_ENST00000367396.3_Intron|DENND1B_ENST00000400967.2_Missense_Mutation_p.S17L			Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	0						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						GGTATTACTCGAAAATACAGG	0.433000													13	29					0	0	0.003163	0	0
FREM1	158326	broad.mit.edu	37	9	14842657	14842657	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:14842657C>T	ENST00000380881.4	-	10	2213	c.1396_splice	c.e10-1	p.G466_splice	FREM1_ENST00000380880.3_Splice_Site_p.G465_splice|FREM1_ENST00000422223.2_Splice_Site_p.G465_splice			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	465					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ACCCTTTCCCCCCTGAGGGAG	0.537000													24	28					0	0	0.002780	0	0
C10orf2	56652	broad.mit.edu	37	10	102753166	102753166	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:102753166C>T	ENST00000311916.2	+	5	2139	c.1954C>T	c.(1954-1956)Ccc>Tcc	p.P652S	C10orf2_ENST00000473656.1_3'UTR|C10orf2_ENST00000370228.1_3'UTR	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	652					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGCCAAAAAGCCCTCTTCTGG	0.542000													14	45					0	0	0.002450	0	0
CHD5	26038	broad.mit.edu	37	1	6184100	6184100	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:6184100C>T	ENST00000262450.3	-	31	4706	c.4607G>A	c.(4606-4608)gGg>gAg	p.G1536E	CHD5_ENST00000378021.1_Missense_Mutation_p.G393E	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1536					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CGACTTCTTCCCCTCGGGCCC	0.652000													12	22					0	0	0.001855	0	0
PARVA	55742	broad.mit.edu	37	11	12530148	12530148	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:12530148C>T	ENST00000334956.8	+	7	1138	c.795C>T	c.(793-795)ctC>ctT	p.L265L	PARVA_ENST00000550549.1_Silent_p.L225L|PARVA_ENST00000539723.1_Silent_p.L225L|PARVA_ENST00000538608.1_Silent_p.L172L	NM_018222.4	NP_060692.2	Q9NVD7	PARVA_HUMAN	parvin, alpha	225	CH 2.				cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		AAGGAATCCTCCAGTCTCGGC	0.433000													17	67					0	0	0.004990	0	0
OR51F2	119694	broad.mit.edu	37	11	4843255	4843255	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:4843255C>T	ENST00000322110.5	+	1	705	c.640C>T	c.(640-642)Ctg>Ttg	p.L214L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATCCTTGGTCTGTTTGCGCT	0.468000													35	74					0	0	0.006230	0	0
JPH4	84502	broad.mit.edu	37	14	24040512	24040512	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:24040512G>A	ENST00000397118.3	-	6	2330	c.1428C>T	c.(1426-1428)tgC>tgT	p.C476C	JPH4_ENST00000544177.1_Silent_p.C141C|JPH4_ENST00000356300.4_Silent_p.C476C	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	476					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GTGGGCTCCGGCAGGCAGGGG	0.682000													10	58					0	0	0.006214	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179555543	179555543	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:179555543C>T	ENST00000393371.2	-	4	802	c.506G>A	c.(505-507)gGg>gAg	p.G169E	RASGEF1C_ENST00000519883.1_5'UTR|RASGEF1C_ENST00000522500.1_Missense_Mutation_p.G18E|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.G169E			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	169					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity	p.G169E(1)		breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCTTCTGGCCCCTGGCGCAG	0.627000													9	25					0	0	0.004482	0	0
COMMD2	51122	broad.mit.edu	37	3	149459388	149459388	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:149459388G>A	ENST00000473414.1	-	5	574	c.520C>T	c.(520-522)Cat>Tat	p.H174Y		NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	COMM domain containing 2	174	COMM.						protein binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TGAACCAAATGGAGCAGGGTG	0.418000													17	51					0	0	0.004007	0	0
GAPVD1	26130	broad.mit.edu	37	9	128086088	128086088	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:128086088C>T	ENST00000470056.1	+	9	1904	c.1744C>T	c.(1744-1746)Cgc>Tgc	p.R582C	GAPVD1_ENST00000312123.9_Missense_Mutation_p.R561C|GAPVD1_ENST00000495955.1_Missense_Mutation_p.R582C|GAPVD1_ENST00000297933.6_Missense_Mutation_p.R582C|GAPVD1_ENST00000394105.2_Missense_Mutation_p.R582C|GAPVD1_ENST00000394104.2_Missense_Mutation_p.R582C|GAPVD1_ENST00000394083.2_Missense_Mutation_p.R561C|GAPVD1_ENST00000265956.4_Missense_Mutation_p.R582C			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	582					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TCCTTCAAATCGCTCCAATTC	0.423000													7	12					0	0	0.006214	0	0
MYBPC2	4606	broad.mit.edu	37	19	50954567	50954567	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:50954567G>A	ENST00000357701.5	+	15	1660		c.e15+1			NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type						cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCCAAGCAAGGTGAGCACCAC	0.612000													20	38					0	0	0.002780	0	0
NLRP13	126204	broad.mit.edu	37	19	56423273	56423273	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:56423273C>T	ENST00000588751.1	-	5	1934	c.1910G>A	c.(1909-1911)cGa>cAa	p.R637Q	NLRP13_ENST00000342929.3_Missense_Mutation_p.R637Q			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	637							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GTGAAAAAGTCGTAGAATGTG	0.413000													14	27					0	0	0.002450	0	0
RAB40AL	282808	broad.mit.edu	37	X	102192851	102192851	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:102192851C>T	ENST00000218249.5	+	1	652	c.605C>T	c.(604-606)tCc>tTc	p.S202F	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	202	SOCS box.				protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						ACCATCGTGTCCTGCACACCT	0.597000													32	12					0	0	0.012213	0	0
RERG	85004	broad.mit.edu	37	12	15262321	15262321	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:15262321G>A	ENST00000256953.2	-	5	659	c.323C>T	c.(322-324)cCc>cTc	p.P108L	RERG_ENST00000536465.1_Missense_Mutation_p.P108L|RERG_ENST00000538313.1_Missense_Mutation_p.P108L|RERG_ENST00000546331.1_Missense_Mutation_p.P89L	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	108					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CACATTCTTGGGCTTTTTGAT	0.488000													29	183					0	0	0.005443	0	0
PRLR	5618	broad.mit.edu	37	5	35066066	35066066	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:35066066C>A	ENST00000382002.5	-	10	1420	c.994G>T	c.(994-996)Gaa>Taa	p.E332*	PRLR_ENST00000310101.5_Nonsense_Mutation_p.E332*|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000231423.3_Nonsense_Mutation_p.E332*|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000342362.5_Nonsense_Mutation_p.E231*|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000511486.1_Nonsense_Mutation_p.E231*	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	332					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CTTGGGTGTTCTTTTGAATGG	0.478000													16	35					1.96292e-10	2.14669e-10	0.010504	1	0
LOC440040	440040	broad.mit.edu	37	11	49598031	49598031	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:49598031G>A	ENST00000527477.1	+	0	635																											CCCTGGAAAGGATCAATTCAG	0.537000													6	12					0	0	0.001984	0	0
ALPK2	115701	broad.mit.edu	37	18	56204564	56204564	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:56204564G>A	ENST00000361673.3	-	5	3068	c.2855C>T	c.(2854-2856)cCt>cTt	p.P952L	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	952							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTGCACTAAAGGATTGTTCTC	0.512000													14	27					0	0	0.001855	0	0
ABCD2	225	broad.mit.edu	37	12	39997808	39997808	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:39997808C>T	ENST00000308666.3	-	5	1541	c.1405_splice	c.e5-1	p.G469_splice		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	469					fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AATAACTTTTCCTGTAATTAA	0.313000													33	24					0	0	0.009535	0	0
TRMT12	55039	broad.mit.edu	37	8	125463294	125463294	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:125463294C>T	ENST00000328599.3	+	1	247	c.126C>T	c.(124-126)ctC>ctT	p.L42L	TRMT12_ENST00000521443.1_3'UTR	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	42					tRNA processing		methyltransferase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGCAGAAACTCTTTGATACAC	0.557000													8	40					0	0	0.004482	0	0
KCNA10	3744	broad.mit.edu	37	1	111061129	111061129	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:111061129C>T	ENST00000369771.2	-	1	668	c.281G>A	c.(280-282)gGg>gAg	p.G94E		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	94						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		AAATCTCAGCCCAGCAATGTT	0.532000													31	68					0	0	0.012213	0	0
L2HGDH	79944	broad.mit.edu	37	14	50732104	50732104	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:50732104G>A	ENST00000267436.4	-	9	1565	c.1168C>T	c.(1168-1170)Cct>Tct	p.P390S	L2HGDH_ENST00000421284.3_Missense_Mutation_p.P390S|L2HGDH_ENST00000261699.4_Missense_Mutation_p.P390S			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	390					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					GTAATTTCAGGGATGAATTTT	0.373000													5	29					0	0	0.000602	0	0
KCNG4	93107	broad.mit.edu	37	16	84255835	84255835	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:84255835G>A	ENST00000308251.4	-	3	1616	c.1548C>T	c.(1546-1548)atC>atT	p.I516I		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	516						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						ACATGTGCATGATAGGCAAGG	0.542000													37	108					0	0	0.009718	0	0
CLDN18	51208	broad.mit.edu	37	3	137717715	137717715	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:137717715C>T	ENST00000343735.4	+	1	139	c.5C>T	c.(4-6)gCc>gTc	p.A2V		NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN	claudin 18	2					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GCCACCATGGCCGTGACTGCC	0.572000													13	32					0	0	0.013537	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679405	160679405	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:160679405C>T	ENST00000366952.1	-	3	1803	c.322G>A	c.(322-324)Gag>Aag	p.E108K	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Missense_Mutation_p.E129K			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	129					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CCAGGCGTCTCGTACACCCAG	0.622000													9	87					0	0	0.013537	0	0
THPO	7066	broad.mit.edu	37	3	184090693	184090693	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:184090693C>T	ENST00000204615.7	-	6	884	c.670G>A	c.(670-672)Gga>Aga	p.G224R	EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000421442.2_Missense_Mutation_p.G185E|THPO_ENST00000445696.2_Missense_Mutation_p.G220R|THPO_ENST00000477594.1_5'UTR	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	224					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTCTGAATCCCTGCTGCCAC	0.522000													7	36					0	0	0.003080	0	0
GRIA3	2892	broad.mit.edu	37	X	122551295	122551295	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:122551295C>T	ENST00000264357.5	+	11	1835	c.1543C>T	c.(1543-1545)Cgt>Tgt	p.R515C	GRIA3_ENST00000371251.1_Missense_Mutation_p.R515C|GRIA3_ENST00000542149.1_Missense_Mutation_p.R515C|GRIA3_ENST00000541091.1_Missense_Mutation_p.R499C|GRIA3_ENST00000371256.5_Missense_Mutation_p.R515C	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	515					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	AACATTGGTCCGTGAAGAAGT	0.363000													51	38					0	0	0.014410	0	0
BPIFB2	80341	broad.mit.edu	37	20	31607532	31607532	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:31607532C>T	ENST00000170150.3	+	11	1251	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	352						extracellular region	lipid binding										ACTCGGCTTTCCAGTCCCTCT	0.637000													10	14					0	0	0.008291	0	0
PDE11A	50940	broad.mit.edu	37	2	178936631	178936631	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:178936631C>T	ENST00000286063.5	-	1	851	c.534G>A	c.(532-534)tcG>tcA	p.S178S	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	178					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GATTCACTCTCGATTCCAGCA	0.532000									Primary Pigmented Nodular Adrenocortical Disease, Familial				18	42					0	0	0.007413	0	0
VPS13D	55187	broad.mit.edu	37	1	12389938	12389938	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:12389938C>T	ENST00000358136.3	+	37	8380	c.8250C>T	c.(8248-8250)ttC>ttT	p.F2750F	VPS13D_ENST00000356315.4_Silent_p.F2750F	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2750					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATGCCCACTTCACCCTTTCTG	0.418000													11	31					0	0	0.013537	0	0
TNC	3371	broad.mit.edu	37	9	117810577	117810577	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:117810577C>T	ENST00000350763.4	-	16	5225	c.4814G>A	c.(4813-4815)gGg>gAg	p.G1605E	TNC_ENST00000481475.1_5'UTR|TNC_ENST00000542877.1_Intron|TNC_ENST00000340094.3_Missense_Mutation_p.G1241E|TNC_ENST00000535648.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000423613.2_Intron|TNC_ENST00000341037.4_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1605	Fibronectin type-III 11.			SGFTQGHQT -> LWLHPRASN (in Ref. 1; no nucleotide entry, 3; AAA88083 and 7; AAA52703).	cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGTTTGATGCCCTTGGGTGAA	0.488000													34	88					0	0	0.004878	0	0
ABCA12	26154	broad.mit.edu	37	2	215845252	215845252	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:215845252C>T	ENST00000272895.7	-	31	4914	c.4695G>A	c.(4693-4695)aaG>aaA	p.K1565K	ABCA12_ENST00000389661.4_Silent_p.K1247K	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1565	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAAAGGCTTCCTTGAGGTAAA	0.488000													30	54					0	0	0.010818	0	0
ZNF512	84450	broad.mit.edu	37	2	27844028	27844028	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:27844028C>T	ENST00000355467.4	+	14	1487	c.1404C>T	c.(1402-1404)ttC>ttT	p.F468F	RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_Silent_p.F467F|ZNF512_ENST00000556601.1_Silent_p.F337F|ZNF512_ENST00000416005.2_Silent_p.F439F|ZNF512_ENST00000413371.2_Silent_p.F391F			Q96ME7	ZN512_HUMAN	zinc finger protein 512	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F468F(2)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					AGGACTGGTTCGTTGTAAACC	0.418000													22	30					0	0	0.003954	0	0
HOMER2	9455	broad.mit.edu	37	15	83561495	83561495	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:83561495G>A	ENST00000304231.8	-	2	296	c.104C>T	c.(103-105)tCc>tTc	p.S35F	HOMER2_ENST00000450735.2_Missense_Mutation_p.S35F|HOMER2_ENST00000399166.2_Missense_Mutation_p.S35F|HOMER2_ENST00000426485.1_Missense_Mutation_p.S35F	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	35	WH1.				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						ATAGAAGTAGGAAACGGTGAC	0.517000													21	78					0	0	0.002780	0	0
SLC9A2	6549	broad.mit.edu	37	2	103236592	103236592	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:103236592G>C	ENST00000233969.2	+	1	427	c.285G>C	c.(283-285)aaG>aaC	p.K95N		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	95						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CCCTGGCCAAGATTGGTGAGC	0.612000													12	13					0	0	0.010729	0	0
PHF21B	112885	broad.mit.edu	37	22	45283929	45283929	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:45283929G>A	ENST00000313237.5	-	10	1261	c.1111C>T	c.(1111-1113)Ccg>Tcg	p.P371S	PHF21B_ENST00000396103.3_Missense_Mutation_p.P329S|PHF21B_ENST00000447824.3_3'UTR|PHF21B_ENST00000404079.2_Missense_Mutation_p.P317S|PHF21B_ENST00000403565.1_Missense_Mutation_p.P167S	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	371							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		TAGGCCCCCGGGCAGGTGCCG	0.677000													6	7					0	0	0.001984	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48183358	48183358	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:48183358G>A	ENST00000396720.3	+	6	1125	c.931G>A	c.(931-933)Ggg>Agg	p.G311R	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	311							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CGGAGGCGCGGGGGCCGCCTC	0.726000													3	5					0	0	0.009096	0	0
MPL	4352	broad.mit.edu	37	1	43812583	43812583	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:43812583G>A	ENST00000372470.3	+	8	1328	c.1286G>A	c.(1285-1287)gGa>gAa	p.G429E	MPL_ENST00000413998.2_Missense_Mutation_p.G429E	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	429	Fibronectin type-III 2.				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGATACACAGGAGAAGGCCAT	0.562000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						22	43					0	0	0.014323	0	0
MYH1	4619	broad.mit.edu	37	17	10402081	10402081	+	Missense_Mutation	SNP	C	C	T	rs146728905		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:10402081C>T	ENST00000226207.5	-	30	4137	c.4043G>A	c.(4042-4044)cGg>cAg	p.R1348Q	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1348						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATACTGTTCCCGCAGCAGGTC	0.507000													32	28					0	0	0.006999	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	22995467	22995467	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:22995467C>T	ENST00000312584.3	-	9	1171	c.1077G>A	c.(1075-1077)aaG>aaA	p.K359K		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	359	Death; truncated.				anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		GAATTGTTTCCTTTGCATGTC	0.493000													8	26					0	0	0.003080	0	0
FSCN1	6624	broad.mit.edu	37	7	5643510	5643510	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:5643510C>T	ENST00000382361.3	+	4	1242	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	FSCN1_ENST00000340250.6_Silent_p.F355F	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)	376					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CAGAGCTCTTCCTCATGAAGC	0.647000													10	42					0	0	0.010729	0	0
PYDC2	152138	broad.mit.edu	37	3	191179243	191179243	+	Nonstop_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:191179243T>A	ENST00000518817.1	+	1	292	c.292T>A	c.(292-294)Taa>Aaa	p.*98K		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	0						cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						GCCCCCACCTTAACCCCTCAG	0.478000													25	43					0	0	0.005443	0	0
FLG2	388698	broad.mit.edu	37	1	152324960	152324960	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152324960C>T	ENST00000388718.5	-	3	5374	c.5302G>A	c.(5302-5304)Gga>Aga	p.G1768R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1768							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)			TGTATAGTTCCATGTCTCTCA	0.502000													48	105					0	0	0.014410	0	0
MYH6	4624	broad.mit.edu	37	14	23854192	23854192	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:23854192G>A	ENST00000405093.3	-	35	5292	c.5222C>T	c.(5221-5223)tCg>tTg	p.S1741L	MYH6_ENST00000356287.3_Missense_Mutation_p.S1741L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1741					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.S1741L(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTCCACTTCCGACTGGAGCTG	0.517000													11	30					0	0	0.008291	0	0
MYLK	4638	broad.mit.edu	37	3	123419455	123419455	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:123419455G>A	ENST00000360772.3	-	19	3238	c.2860C>T	c.(2860-2862)Cgc>Tgc	p.R954C	MYLK_ENST00000360304.3_Missense_Mutation_p.R954C|MYLK_ENST00000346322.5_Missense_Mutation_p.R885C|MYLK_ENST00000475616.1_Missense_Mutation_p.R954C|MYLK_ENST00000359169.1_Missense_Mutation_p.R954C			Q15746	MYLK_HUMAN	myosin light chain kinase	954	5 X 28 AA approximate tandem repeats.|Actin-binding (calcium/calmodulin- sensitive) (By similarity).|Calmodulin-binding (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGGACAGAGCGAAAATCGACC	0.597000													15	30					0	0	0.003163	0	0
RNF123	63891	broad.mit.edu	37	3	49735880	49735880	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:49735880T>C	ENST00000327697.6	+	8	635	c.491T>C	c.(490-492)gTt>gCt	p.V164A	RNF123_ENST00000432042.1_Missense_Mutation_p.V18A	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	164	B30.2/SPRY.					cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TAGGAGGGGGTTGGAGATACA	0.567000													14	34					0	0	0.003163	0	0
THSD7B	80731	broad.mit.edu	37	2	137814328	137814328	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:137814328G>A	ENST00000409968.1	+	3	656	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	THSD7B_ENST00000272643.3_Missense_Mutation_p.E160K|THSD7B_ENST00000413152.2_Missense_Mutation_p.E129K|THSD7B_ENST00000543459.1_Missense_Mutation_p.E19K					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)		TGAAATATGCGAACACTTTGC	0.517000													28	92					0	0	0.005443	0	0
OR51B6	390058	broad.mit.edu	37	11	5373574	5373574	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5373574C>T	ENST00000380219.1	+	1	837	c.837C>T	c.(835-837)ttC>ttT	p.F279F	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATCCACTTCCTTTTCCCAC	0.393000													20	60					0	0	0.010504	0	0
TLE1	7088	broad.mit.edu	37	9	84226687	84226687	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:84226687G>A	ENST00000376499.3	-	13	2315	c.1251C>T	c.(1249-1251)ccC>ccT	p.P417P	TLE1_ENST00000376472.1_Silent_p.P92P|TLE1_ENST00000376484.1_Silent_p.P92P	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	417	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						GGCCTACCATGGGGGAGCGCC	0.687000													3	8					0	0	0.009096	0	0
PTK2B	2185	broad.mit.edu	37	8	27315813	27315813	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:27315813C>T	ENST00000397501.1	+	36	3625	c.2817C>T	c.(2815-2817)atC>atT	p.I939I	PTK2B_ENST00000346049.5_Silent_p.I939I|PTK2B_ENST00000517339.1_Silent_p.I897I|PTK2B_ENST00000420218.2_Silent_p.I897I|PTK2B_ENST00000338238.4_Silent_p.I897I|PTK2B_ENST00000544172.1_Silent_p.I939I	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	939	Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TCCTACAGATCGAGGGCACCC	0.557000													7	18					0	0	0.004482	0	0
FUT3	2525	broad.mit.edu	37	19	5844472	5844472	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:5844472G>A	ENST00000303225.6	-	3	1013	c.379C>T	c.(379-381)Ccg>Tcg	p.P127S	FUT3_ENST00000589620.1_Missense_Mutation_p.P127S|FUT3_ENST00000589918.1_Missense_Mutation_p.P127S|FUT3_ENST00000458379.2_Missense_Mutation_p.P127S	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	127					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TGCCCCTGCGGCCTCGGGGAA	0.597000													28	55					0	0	0.006320	0	0
ANAPC2	29882	broad.mit.edu	37	9	140074659	140074659	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:140074659A>G	ENST00000323927.2	-	10	1868	c.1864T>C	c.(1864-1866)Tac>Cac	p.Y622H		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	622					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TTCTTGCAGTAAGCCTCCAGG	0.622000													5	39					0	0	0.003080	0	0
CACNA1G	8913	broad.mit.edu	37	17	48649321	48649321	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:48649321C>T	ENST00000352832.5	+	5	1041	c.669C>T	c.(667-669)ttC>ttT	p.F223F	CACNA1G_ENST00000358244.5_Silent_p.F223F|CACNA1G_ENST00000507896.1_Silent_p.F223F|CACNA1G_ENST00000354983.4_Silent_p.F223F|CACNA1G_ENST00000502264.1_Silent_p.F223F|CACNA1G_ENST00000515411.1_Silent_p.F223F|CACNA1G_ENST00000507609.1_Silent_p.F223F|CACNA1G_ENST00000360761.4_Silent_p.F223F|CACNA1G_ENST00000513964.1_Silent_p.F223F|CACNA1G_ENST00000416767.4_Silent_p.F223F|CACNA1G_ENST00000514717.1_Silent_p.F223F|CACNA1G_ENST00000503485.1_Silent_p.F223F|CACNA1G_ENST00000510366.1_Silent_p.F223F|CACNA1G_ENST00000514181.1_Silent_p.F223F|CACNA1G_ENST00000507336.1_Silent_p.F223F|CACNA1G_ENST00000515165.1_Silent_p.F223F|CACNA1G_ENST00000429973.2_Silent_p.F223F|CACNA1G_ENST00000514079.1_Silent_p.F223F|CACNA1G_ENST00000359106.5_Silent_p.F223F|CACNA1G_ENST00000512389.1_Silent_p.F223F|CACNA1G_ENST00000515765.1_Silent_p.F223F|CACNA1G_ENST00000442258.2_Silent_p.F223F|CACNA1G_ENST00000510115.1_Silent_p.F223F|CACNA1G_ENST00000507510.2_Silent_p.F223F|CACNA1G_ENST00000513689.2_Silent_p.F223F|CACNA1G_ENST00000505165.1_Silent_p.F223F	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	223					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCGTCTTCTTCATCTTCGGCA	0.597000													38	28					0	0	0.009718	0	0
PAPPA2	60676	broad.mit.edu	37	1	176740190	176740190	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:176740190T>A	ENST00000367662.3	+	17	5753	c.4589T>A	c.(4588-4590)aTt>aAt	p.I1530N		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1530	Sushi 3.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCTCCCCCTATTATTCTGAAT	0.517000													30	49					0	0	0.010818	0	0
ACSM2A	123876	broad.mit.edu	37	16	20477025	20477025	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:20477025G>A	ENST00000573854.1	+	3	478	c.364G>A	c.(364-366)Gtg>Atg	p.V122M	ACSM2A_ENST00000575690.1_Missense_Mutation_p.V122M|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Missense_Mutation_p.V43M|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.V122M|ACSM2A_ENST00000396104.2_Missense_Mutation_p.V122M|ACSM2A_ENST00000219054.6_Missense_Mutation_p.V122M	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	122					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						GTGGTGGCTGGTGATCCTGGG	0.582000													9	25					0	0	0.013537	0	0
KANK4	163782	broad.mit.edu	37	1	62739144	62739144	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:62739144C>T	ENST00000371153.4	-	3	2010	c.1632G>A	c.(1630-1632)ggG>ggA	p.G544G	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	544										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGTGCTCCTTCCCTGGGAGAT	0.617000													25	38					0	0	0.005443	0	0
ITK	3702	broad.mit.edu	37	5	156667124	156667124	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:156667124C>T	ENST00000422843.3	+	10	1056	c.904C>T	c.(904-906)Cct>Tct	p.P302S		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	302	SH2.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAATGACAATCCTAAGCGATA	0.373000			T	SYK	peripheral T-cell lymphoma								66	243					0	0	0.014410	0	0
TRPC4	7223	broad.mit.edu	37	13	38237762	38237762	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:38237762G>A	ENST00000379705.3	-	6	2336	c.1479C>T	c.(1477-1479)atC>atT	p.I493I	TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000447043.1_Silent_p.I493I|TRPC4_ENST00000358477.2_Silent_p.I493I|TRPC4_ENST00000379681.3_Silent_p.I493I|TRPC4_ENST00000355779.2_Silent_p.I493I|TRPC4_ENST00000338947.5_Silent_p.I320I|TRPC4_ENST00000379673.2_Silent_p.I493I|TRPC4_ENST00000379679.1_Silent_p.I320I			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	493					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)		TAAACAGTGAGATCAGACGCA	0.448000													18	9					0	0	0.006122	0	0
DROSHA	29102	broad.mit.edu	37	5	31451648	31451648	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:31451648G>A	ENST00000511367.2	-	20	2918	c.2674C>T	c.(2674-2676)Ctg>Ttg	p.L892L	DROSHA_ENST00000442743.1_Silent_p.L855L|DROSHA_ENST00000344624.3_Silent_p.L892L|DROSHA_ENST00000513349.1_Silent_p.L855L	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	892	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						ACCTGCAACAGACAACGATCT	0.403000													3	10					0	0	0.004672	0	0
FAM170A	340069	broad.mit.edu	37	5	118969875	118969875	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:118969875G>A	ENST00000515256.1	+	3	604	c.432G>A	c.(430-432)gaG>gaA	p.E144E				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	144						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						TCTCCTGGGAGACAGAGGAAA	0.473000													20	41					0	0	0.014323	0	0
NVL	4931	broad.mit.edu	37	1	224482072	224482072	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:224482072C>T	ENST00000281701.6	-	12	1481	c.1222G>A	c.(1222-1224)Gga>Aga	p.G408R	NVL_ENST00000469075.1_Missense_Mutation_p.G317R|NVL_ENST00000391875.2_Missense_Mutation_p.G302R|NVL_ENST00000482491.1_Missense_Mutation_p.G132R|NVL_ENST00000340871.4_Missense_Mutation_p.G219R|NVL_ENST00000361463.3_Missense_Mutation_p.G302R	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	408						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		TTAGTAGCTCCAATAACTAGG	0.483000													7	47					0	0	0.001984	0	0
TEP1	7011	broad.mit.edu	37	14	20864104	20864104	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:20864104G>A	ENST00000262715.5	-	11	1704	c.1664C>T	c.(1663-1665)tCg>tTg	p.S555L	TEP1_ENST00000556935.1_Missense_Mutation_p.S447L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	555	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GTGGATCACCGACTTCTAGAA	0.512000													17	63					0	0	0.007413	0	0
BEND6	221336	broad.mit.edu	37	6	56879998	56879998	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:56879998G>A	ENST00000370746.3	+	4	635	c.366G>A	c.(364-366)ggG>ggA	p.G122G	BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000545789.1_Silent_p.G24G|BEND6_ENST00000484701.1_3'UTR	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	122										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						TTAAGGGTGGGGGAACCATGT	0.443000													15	25					0	0	0.004007	0	0
SCAND3	114821	broad.mit.edu	37	6	28547088	28547088	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:28547088C>T	ENST00000452236.2	-	2	1146	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	SCAND3_ENST00000530247.1_5'UTR	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	177					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GATTCACATTCCATTCTATCT	0.428000													40	88					0	0	0.006230	0	0
WBSCR28	135886	broad.mit.edu	37	7	73279939	73279939	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:73279939C>T	ENST00000320531.2	+	3	570	c.534C>T	c.(532-534)ctC>ctT	p.L178L		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	178						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				TAAGGAAGCTCCTGGTACAGC	0.582000													67	98					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179647575	179647575	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179647575C>T	ENST00000589042.1	-	18	3282	c.3058G>A	c.(3058-3060)Gag>Aag	p.E1020K	TTN_ENST00000460472.2_Missense_Mutation_p.E974K|TTN_ENST00000360870.5_Missense_Mutation_p.E1020K|TTN_ENST00000359218.5_Missense_Mutation_p.E974K|TTN_ENST00000342992.6_Missense_Mutation_p.E1020K|TTN_ENST00000342175.6_Missense_Mutation_p.E974K|TTN_ENST00000591111.1_Missense_Mutation_p.E1020K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1020	Ig-like 3.						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)			GTTCCAGCCTCATTTACAGCA	0.507000													10	22					0	0	0.010729	0	0
NFASC	23114	broad.mit.edu	37	1	204943918	204943918	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:204943918A>T	ENST00000367172.4	+	14	1853	c.1525A>T	c.(1525-1527)Aaa>Taa	p.K509*	NFASC_ENST00000404907.1_Nonsense_Mutation_p.K520*|NFASC_ENST00000367171.4_Nonsense_Mutation_p.K509*|NFASC_ENST00000338515.6_Nonsense_Mutation_p.K509*|NFASC_ENST00000338586.6_Nonsense_Mutation_p.K509*|NFASC_ENST00000360049.4_Nonsense_Mutation_p.K520*|NFASC_ENST00000339876.6_Nonsense_Mutation_p.K509*|NFASC_ENST00000367169.4_Nonsense_Mutation_p.K509*|NFASC_ENST00000404076.1_Nonsense_Mutation_p.K503*|NFASC_ENST00000403080.1_Nonsense_Mutation_p.K509*|NFASC_ENST00000539706.1_Nonsense_Mutation_p.K520*|NFASC_ENST00000401399.1_Nonsense_Mutation_p.K509*|NFASC_ENST00000513543.1_Nonsense_Mutation_p.K520*|NFASC_ENST00000367170.4_Nonsense_Mutation_p.K509*			O94856	NFASC_HUMAN	neurofascin	509	Ig-like C2-type 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CATCCTGGGCAAAGCTGAAAA	0.527000													9	83					0	0	0.006214	0	0
FCRL1	115350	broad.mit.edu	37	1	157772375	157772375	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:157772375G>A	ENST00000358292.3	-	4	450	c.399C>T	c.(397-399)atC>atT	p.I133I	FCRL1_ENST00000368176.3_Silent_p.I133I|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Silent_p.I133I	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	133	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CAACTGAGCAGATGAGGACCA	0.547000													13	31					0	0	0.001855	0	0
NPY4R	5540	broad.mit.edu	37	10	47087788	47087788	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:47087788C>T	ENST00000374312.1	+	3	1424	c.1005C>T	c.(1003-1005)gcC>gcT	p.A335A	NPY4R_ENST00000395716.1_Silent_p.A335A	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4									p.A335A(1)									AGATCAAGGCCCTGGTGCTGA	0.552000													10	82					0	0	0.010729	0	0
SORL1	6653	broad.mit.edu	37	11	121457003	121457003	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:121457003G>C	ENST00000260197.7	+	27	3908	c.3779G>C	c.(3778-3780)cGt>cCt	p.R1260P	SORL1_ENST00000525532.1_Missense_Mutation_p.R204P|SORL1_ENST00000534286.1_Missense_Mutation_p.R170P|SORL1_ENST00000532694.1_Missense_Mutation_p.R106P	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1260	LDL-receptor class A 5.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GATGGTCTGCGTGATTGCTCT	0.483000													13	117					0	0	0.002450	0	0
MNDA	4332	broad.mit.edu	37	1	158811981	158811981	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158811981G>A	ENST00000368141.4	+	2	299	c.38G>A	c.(37-39)gGa>gAa	p.G13E	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	13	DAPIN.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TTGCTGAAAGGATTTGAGCTC	0.318000													12	29					0	0	0.010729	0	0
MS4A10	341116	broad.mit.edu	37	11	60559775	60559775	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:60559775C>T	ENST00000308287.1	+	4	437	c.341C>T	c.(340-342)aCc>aTc	p.T114I		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	114						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						ACAATGAAGACCTTTTCTAAA	0.443000													36	97					0	0	0.009718	0	0
ADRA2B	151	broad.mit.edu	37	2	96781379	96781379	+	Silent	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:96781379G>T	ENST00000409345.3	-	1	605	c.510C>A	c.(508-510)gcC>gcA	p.A170A		NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	170					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GGATGTACCAGGCCTCCTGGT	0.632000													10	29					3.07112e-06	3.3368e-06	0.010729	1	0
NEBL	10529	broad.mit.edu	37	10	21178817	21178817	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:21178817G>A	ENST00000377122.4	-	3	611	c.215C>T	c.(214-216)cCt>cTt	p.P72L	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.P72L	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	72					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GTTTAGCATAGGACTGTCAGT	0.303000													11	32					0	0	0.001855	0	0
GPR148	344561	broad.mit.edu	37	2	131487355	131487355	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:131487355C>T	ENST00000309926.4	+	1	713	c.631C>T	c.(631-633)Ccg>Tcg	p.P211S		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	211						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GGGCACCCAGCCGGGATGTGG	0.542000													18	59					0	0	0.006122	0	0
PRICKLE4	29964	broad.mit.edu	37	6	41752781	41752781	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:41752781C>T	ENST00000359201.5	+	4	938	c.349C>T	c.(349-351)Ccc>Tcc	p.P117S	PRICKLE4_ENST00000463606.1_3'UTR|PRICKLE4_ENST00000394260.1_Missense_Mutation_p.P77S|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.P117S|PRICKLE4_ENST00000458694.1_Missense_Mutation_p.P117S|PRICKLE4_ENST00000394259.1_Missense_Mutation_p.P77S			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	77	LIM zinc-binding 1.					nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCTGGTACTTCCCAAGCTTGA	0.612000													11	77					0	0	0.010729	0	0
UBL4B	164153	broad.mit.edu	37	1	110655500	110655500	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:110655500G>A	ENST00000334179.3	+	1	439	c.344G>A	c.(343-345)aGg>aAg	p.R115K		NM_203412.1	NP_981957.1	Q8N7F7	UBL4B_HUMAN	ubiquitin-like 4B	115						cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	7		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)		CAGCTGCTAAGGCAGGAGCAC	0.637000													6	31					0	0	0.001984	0	0
MYPN	84665	broad.mit.edu	37	10	69934371	69934371	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:69934371C>T	ENST00000358913.5	+	11	3010	c.2522C>T	c.(2521-2523)cCa>cTa	p.P841L	MYPN_ENST00000354393.2_Missense_Mutation_p.P566L|MYPN_ENST00000540630.1_Missense_Mutation_p.P841L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	841	Pro-rich.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CCTGCCATCCCACCCACAAAT	0.522000													13	26					0	0	0.003163	0	0
GABBR1	2550	broad.mit.edu	37	6	29571449	29571449	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:29571449C>T	ENST00000377034.4	-	23	3092	c.2757G>A	c.(2755-2757)cgG>cgA	p.R919R	GABBR1_ENST00000377016.4_Silent_p.R857R|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000355973.3_Silent_p.R802R|GABBR1_ENST00000377012.4_Silent_p.R802R	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	919				Missing (in Ref. 7; CAA09031).	gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GGAGCTGCTGCCGAGACTGGA	0.632000													8	13					0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9089120	9089120	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9089120G>A	ENST00000397910.4	-	1	2898	c.2695C>T	c.(2695-2697)Ccc>Tcc	p.P899S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	899	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						TCCATGGTGGGGAATACTGGG	0.512000													3	18					0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179595718	179595718	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179595718C>T	ENST00000589042.1	-	60	17898	c.17674G>A	c.(17674-17676)Gaa>Aaa	p.E5892K	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E4648K|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E5575K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5575	Ig-like 40.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E4648*(1)		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)			AAAGTATATTCTCCACTATCT	0.393000													68	106					0	0	0.014410	0	0
DNAH9	1770	broad.mit.edu	37	17	11584087	11584087	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:11584087G>A	ENST00000262442.3	+	19	3692	c.3624G>A	c.(3622-3624)gtG>gtA	p.V1208V	DNAH9_ENST00000454412.2_Silent_p.V1208V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1208	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCATTACTGTGAAGCAGCAGG	0.527000													8	11					0	0	0.006214	0	0
CATSPERB	79820	broad.mit.edu	37	14	92136311	92136311	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:92136311C>T	ENST00000256343.3	-	14	1290	c.1134G>A	c.(1132-1134)agG>agA	p.R378R		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	378					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TGGCAGTTTTCCTGACCTAGG	0.363000													26	36					0	0	0.005443	0	0
HECTD4	283450	broad.mit.edu	37	12	112645736	112645736	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:112645736G>A	ENST00000550722.1	-	52	8030	c.7635C>T	c.(7633-7635)ttC>ttT	p.F2545F	HECTD4_ENST00000430131.2_Silent_p.F2269F|HECTD4_ENST00000377560.5_Silent_p.F2519F	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CTTCATTGCGGAAGCGTCTTC	0.507000													14	9					0	0	0.003163	0	0
C7orf63	79846	broad.mit.edu	37	7	89938629	89938629	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:89938629G>A	ENST00000389297.4	+	22	2854	c.2603G>A	c.(2602-2604)cGa>cAa	p.R868Q	C7orf63_ENST00000316089.8_Missense_Mutation_p.R822Q|C7orf63_ENST00000497910.1_Missense_Mutation_p.R850Q	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	868							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TACCATAAACGACCACAAAAT	0.294000													35	70					0	0	0.006999	0	0
OR14K1	343170	broad.mit.edu	37	1	247902152	247902152	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:247902152C>T	ENST00000283225.2	+	1	236	c.236C>T	c.(235-237)tCc>tTc	p.S79F	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						GTCCCCAAATCCATCCTCAAC	0.507000													22	44					0	0	0.012319	0	0
CSMD2	114784	broad.mit.edu	37	1	34189909	34189909	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:34189909G>A	ENST00000373381.4	-	19	3065	c.2889C>T	c.(2887-2889)ctC>ctT	p.L963L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	923	CUB 6.					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)				AGCCACCACAGAGAGCTACAG	0.562000													4	28					0	0	0.009096	0	0
DYTN	391475	broad.mit.edu	37	2	207572096	207572096	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:207572096C>T	ENST00000452335.2	-	3	342	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	76						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CCTGGGTTTTCCTCCCTGGCC	0.557000													5	17					0	0	0.000602	0	0
NMUR2	56923	broad.mit.edu	37	5	151784264	151784264	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:151784264G>A	ENST00000255262.3	-	1	576	c.411C>T	c.(409-411)atC>atT	p.I137I	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	137					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			TGACGGTGGTGATGCTGAGGA	0.627000													15	44					0	0	0.002450	0	0
ZNF8	7554	broad.mit.edu	37	19	58797124	58797124	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:58797124G>A	ENST00000196548.5	+	2	239	c.108G>A	c.(106-108)caG>caA	p.Q36Q	CTD-3138B18.4_ENST00000600029.1_3'UTR|AC010642.1_ENST00000591325.1_3'UTR	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN	zinc finger protein 8	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		ACTTTACCCAGGAGGAATGGG	0.547000													44	68					0	0	0.013114	0	0
RB1CC1	9821	broad.mit.edu	37	8	53586631	53586631	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:53586631G>A	ENST00000025008.5	-	7	1299	c.776C>T	c.(775-777)cCc>cTc	p.P259L	RB1CC1_ENST00000435644.2_Missense_Mutation_p.P259L|RB1CC1_ENST00000539297.1_Missense_Mutation_p.P259L|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	259					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CACTGACTTGGGAAATGAGGT	0.418000													31	130					0	0	0.010818	0	0
KIRREL2	84063	broad.mit.edu	37	19	36357193	36357193	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:36357193C>T	ENST00000360202.5	+	15	2124	c.1926C>T	c.(1924-1926)ttC>ttT	p.F642F	KIRREL2_ENST00000262625.7_Intron|KIRREL2_ENST00000586102.2_Silent_p.F622F|KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000592409.1_Silent_p.F607F|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	642	Pro-rich.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCTATGACTTCAACCCACACC	0.617000													18	44					0	0	0.004990	0	0
MB21D1	115004	broad.mit.edu	37	6	74135297	74135297	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:74135297C>T	ENST00000370315.3	-	5	1316	c.1222G>A	c.(1222-1224)Gat>Aat	p.D408N	MB21D1_ENST00000370318.1_Missense_Mutation_p.D408N	NM_138441.2	NP_612450.2	Q8N884	M21D1_HUMAN	Mab-21 domain containing 1	408										central_nervous_system(1)|large_intestine(4)|lung(1)	6						TTTAAACAATCTTTCCTGTTG	0.259000													7	7					0	0	0.001984	0	0
ZP2	7783	broad.mit.edu	37	16	21222689	21222689	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:21222689G>A	ENST00000574002.1	-	3	572	c.90C>T	c.(88-90)ttC>ttT	p.F30F	ZP2_ENST00000219593.4_Silent_p.F30F|ZP2_ENST00000574091.1_Silent_p.F30F			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	30					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TCACAAGGGCGAAGAAGAGAG	0.463000													27	51					0	0	0.008361	0	0
ZZEF1	23140	broad.mit.edu	37	17	3977637	3977637	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:3977637G>A	ENST00000381638.2	-	24	3616	c.3492C>T	c.(3490-3492)acC>acT	p.T1164T		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1164							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CGGCCTTGAAGGTCACTTTCT	0.488000											OREG0024096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	26					0	0	0.010818	0	0
C6orf25	80739	broad.mit.edu	37	6	31692639	31692639	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:31692639G>A	ENST00000480039.1	+	5	679	c.639G>A	c.(637-639)tgG>tgA	p.W213*	C6orf25_ENST00000375810.4_Missense_Mutation_p.G220R|C6orf25_ENST00000375805.2_Intron|C6orf25_ENST00000375809.3_Intron			O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						CATGGGGATGGGAAGGGGATA	0.532000													75	157					0	0	0.014410	0	0
MUC17	140453	broad.mit.edu	37	7	100686978	100686978	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100686978C>T	ENST00000306151.4	+	3	12345	c.12281C>T	c.(12280-12282)aCc>aTc	p.T4094I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4094						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCATGACCACCAGGACAAAA	0.562000													19	37					0	0	0.012319	0	0
CSMD3	114788	broad.mit.edu	37	8	113841934	113841934	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:113841934G>A	ENST00000297405.5	-	12	2084	c.1840C>T	c.(1840-1842)Cct>Tct	p.P614S	CSMD3_ENST00000455883.2_Missense_Mutation_p.P510S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P614S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P574S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	614	CUB 3.					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						ACTGTCCTAGGATCTCCAACT	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	25					0	0	0.006214	0	0
CRYGN	155051	broad.mit.edu	37	7	151135258	151135258	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:151135258C>T	ENST00000337323.2	-	2	220	c.94G>A	c.(94-96)Gac>Aac	p.D32N	CRYGN_ENST00000476631.1_5'UTR|RP4-555L14.4_ENST00000465549.1_RNA	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	32	Beta/gamma crystallin 'Greek key' 1.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGCCCCGGTCCTGGAAGTTG	0.562000													12	43					0	0	0.001855	0	0
HEATR4	399671	broad.mit.edu	37	14	73976137	73976137	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:73976137G>A	ENST00000553558.1	-	8	1920	c.1599C>T	c.(1597-1599)gcC>gcT	p.A533A	HEATR4_ENST00000334988.2_Silent_p.A533A|HEATR4_ENST00000560393.1_Silent_p.A486A	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CAGCCTCTAGGGCAGGCAGTA	0.507000													12	60					0	0	0.003163	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874853	80874853	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:80874853G>A	ENST00000466387.1	+	22	3298	c.2574G>A	c.(2572-2574)tgG>tgA	p.W858*	CTNNA2_ENST00000496558.1_Nonsense_Mutation_p.W858*|CTNNA2_ENST00000540488.1_Nonsense_Mutation_p.W813*|CTNNA2_ENST00000343114.3_Nonsense_Mutation_p.W537*|CTNNA2_ENST00000402739.4_Nonsense_Mutation_p.W906*|CTNNA2_ENST00000361291.4_Nonsense_Mutation_p.W892*|CTNNA2_ENST00000541047.1_Nonsense_Mutation_p.W858*			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	906					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						TTGTGTCTTGGAAGATGAAGG	0.483000													54	86					0	0	0.014410	0	0
PCLO	27445	broad.mit.edu	37	7	82544526	82544526	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82544526G>A	ENST00000423517.2	-	7	13113	c.12776C>T	c.(12775-12777)tCt>tTt	p.S4259F	PCLO_ENST00000437081.1_Missense_Mutation_p.S979F|PCLO_ENST00000333891.8_Missense_Mutation_p.S4259F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4190	Ser-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTGCCAAGAGAAGATCCCAT	0.468000													7	7					0	0	0.001984	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290979	141290979	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:141290979G>A	ENST00000247452.3	-	3	1142	c.795C>T	c.(793-795)ttC>ttT	p.F265F		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	265	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CCCCATAGACGAAGTGCTCCC	0.507000										HNSCC(46;0.14)			46	14					0	0	0.014410	0	0
OR2B3	442184	broad.mit.edu	37	6	29054925	29054925	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:29054925G>A	ENST00000377173.2	-	1	165	c.101C>T	c.(100-102)tCa>tTa	p.S34L		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						GATTGTGTATGATATTAACAG	0.408000													18	41					0	0	0.012319	0	0
KIAA0754	643314	broad.mit.edu	37	1	39878858	39878858	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:39878858C>T	ENST00000530275.1	+	1	2708	c.2513C>T	c.(2512-2514)cCt>cTt	p.P838L	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	838	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGAAGGGCCTGTCACCCCA	0.592000													4	10					0	0	0.009096	0	0
TMEM2	23670	broad.mit.edu	37	9	74345064	74345064	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:74345064G>A	ENST00000377044.4	-	9	2418	c.1879C>T	c.(1879-1881)Ccg>Tcg	p.P627S	TMEM2_ENST00000377066.5_Missense_Mutation_p.P564S	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	627						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGAGTACCCGGCTTGGTGAGG	0.453000													25	29					0	0	0.004656	0	0
COL9A1	1297	broad.mit.edu	37	6	71004099	71004099	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:71004099G>A	ENST00000357250.6	-	5	625	c.467C>T	c.(466-468)tCa>tTa	p.S156L	COL9A1_ENST00000370496.3_Missense_Mutation_p.S156L	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	156	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCCCTTGTATGAAAATACAAC	0.433000													37	52					0	0	0.005524	0	0
KIAA1407	57577	broad.mit.edu	37	3	113772443	113772443	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:113772443C>T	ENST00000295878.3	-	2	276		c.e2+1		KIAA1407_ENST00000545063.1_Intron|KIAA1407_ENST00000480588.1_Splice_Site	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407											endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						AATATCCTTACCTTTATCCAG	0.323000													3	17					0	0	0.009096	0	0
SYNE1	23345	broad.mit.edu	37	6	152804247	152804247	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:152804247C>T	ENST00000367255.5	-	14	1924	c.1323G>A	c.(1321-1323)acG>acA	p.T441T	SYNE1_ENST00000341594.5_Silent_p.T441T|SYNE1_ENST00000367253.4_Silent_p.T441T|SYNE1_ENST00000413186.2_Silent_p.T441T|SYNE1_ENST00000448038.1_Silent_p.T448T|SYNE1_ENST00000367248.3_Silent_p.T431T|SYNE1_ENST00000423061.1_Silent_p.T448T|SYNE1_ENST00000265368.4_Silent_p.T441T|SYNE1_ENST00000466159.2_Silent_p.T441T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	441					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)		TCCGTTGTATCGTGTTTGCTG	0.502000										HNSCC(10;0.0054)			60	162					0	0	0.014410	0	0
COL5A2	1290	broad.mit.edu	37	2	189904202	189904202	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:189904202C>T	ENST00000374866.3	-	51	3995	c.3721G>A	c.(3721-3723)Gat>Aat	p.D1241N		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1241					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.D1241N(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ATGCTTTCATCATAGTGCCCC	0.547000													7	24					0	0	0.001984	0	0
GFRA2	2675	broad.mit.edu	37	8	21560429	21560429	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:21560429G>A	ENST00000524240.1	-	7	1756	c.1106C>T	c.(1105-1107)tCg>tTg	p.S369L	GFRA2_ENST00000518077.1_Missense_Mutation_p.S236L|GFRA2_ENST00000517328.1_Missense_Mutation_p.S369L|GFRA2_ENST00000400782.4_Missense_Mutation_p.S264L	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	369						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GGCCTGGAACGAGGGGCCTTT	0.617000													5	10					0	0	0.001168	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963780	73963780	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:73963780G>A	ENST00000373468.1	-	3	1263	c.612C>T	c.(610-612)ctC>ctT	p.L204L	KIAA2022_ENST00000055682.5_Silent_p.L204L			Q5QGS0	K2022_HUMAN	KIAA2022	204					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						GGAAGCCTAGGAGCTGGTCTG	0.458000													24	14					0	0	0.014323	0	0
CASQ2	845	broad.mit.edu	37	1	116311110	116311110	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:116311110C>T	ENST00000261448.5	-	1	292	c.53G>A	c.(52-54)aGg>aAg	p.R18K	CASQ2_ENST00000456138.2_Missense_Mutation_p.R18K	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	18					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CTCTTCTGCCCTGCAAGAGGA	0.408000													20	27					0	0	0.007413	0	0
TRANK1	9881	broad.mit.edu	37	3	36874636	36874636	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:36874636C>T	ENST00000429976.2	-	21	6553	c.6306G>A	c.(6304-6306)ttG>ttA	p.L2102L	TRANK1_ENST00000428977.2_Silent_p.L1552L|TRANK1_ENST00000301807.6_Silent_p.L1552L			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2102					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTCTCAAGTTCAAATCCAGGT	0.393000													9	12					0	0	0.006214	0	0
SLC38A1	81539	broad.mit.edu	37	12	46622947	46622947	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:46622947G>A	ENST00000398637.5	-	5	997	c.303C>T	c.(301-303)atC>atT	p.I101I	SLC38A1_ENST00000549049.1_Silent_p.I101I|SLC38A1_ENST00000546893.1_Silent_p.I101I|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Silent_p.I101I|SLC38A1_ENST00000552197.1_Silent_p.I101I	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	101					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			GAAAAAGTAGGATTCCAGTGT	0.393000													7	6					0	0	0.003080	0	0
SCN11A	11280	broad.mit.edu	37	3	38889091	38889091	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:38889091C>T	ENST00000450244.1	-	26	4668	c.4470G>A	c.(4468-4470)ctG>ctA	p.L1490L	SCN11A_ENST00000302328.3_Silent_p.L1490L|SCN11A_ENST00000456224.3_Silent_p.L1452L			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1490					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCGACATCATCAGAGCAAAGA	0.483000													14	25					0	0	0.002450	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77528719	77528719	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:77528719C>T	ENST00000373304.3	-	3	817	c.525G>A	c.(523-525)gaG>gaA	p.E175E		NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	175					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	CTTGTGGGGGCTCAAAGCACT	0.338000													14	12					0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179403727	179403727	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179403727C>T	ENST00000589042.1	-	353	99159	c.98935G>A	c.(98935-98937)Ggc>Agc	p.G32979S	TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G23914S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G24039S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G30411S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G24106S|TTN_ENST00000591111.1_Missense_Mutation_p.G31338S|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31338							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)			TCACTCAGGCCAACATCATTC	0.463000													10	27					0	0	0.010729	0	0
DDX58	23586	broad.mit.edu	37	9	32477025	32477025	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:32477025C>T	ENST00000379882.1	-	12	1901	c.1744G>A	c.(1744-1746)Gag>Aag	p.E582K	DDX58_ENST00000542096.1_Missense_Mutation_p.E556K|DDX58_ENST00000545044.1_Missense_Mutation_p.E424K|DDX58_ENST00000379868.1_Missense_Mutation_p.E424K|DDX58_ENST00000379883.2_Missense_Mutation_p.E627K			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	627					detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		GTTATTGTCTCTGGGTTTAAG	0.403000													12	45					0	0	0.010729	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110029767	110029767	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:110029767C>T	ENST00000369870.3	+	4	452	c.437C>T	c.(436-438)tCc>tTc	p.S146F		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	146										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		AAAACCTCCTCCAGGGAGAAG	0.617000													127	260					0	0	0.014410	0	0
TRANK1	9881	broad.mit.edu	37	3	36893771	36893771	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:36893771G>A	ENST00000429976.2	-	13	4730	c.4483C>T	c.(4483-4485)Cgc>Tgc	p.R1495C	TRANK1_ENST00000428977.2_Missense_Mutation_p.R945C|TRANK1_ENST00000301807.6_Missense_Mutation_p.R945C			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1495					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTTGGAAGGCGATCAAAAGAT	0.428000													6	11					0	0	0.001168	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716674	142716674	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:142716674G>A	ENST00000381779.4	-	2	2476	c.2251C>T	c.(2251-2253)Cct>Tct	p.P751S	SLITRK4_ENST00000356928.1_Missense_Mutation_p.P751S|SLITRK4_ENST00000338017.4_Missense_Mutation_p.P751S	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	751						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCTGCTAGGGAATAATTCA	0.383000													15	44					0	0	0.003163	0	0
AKAP8L	26993	broad.mit.edu	37	19	15512189	15512189	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15512189G>A	ENST00000397410.4	-	5	652	c.588C>T	c.(586-588)ggC>ggT	p.G196G	AKAP8L_ENST00000595136.1_Intron|AKAP8L_ENST00000595465.1_Silent_p.G135G	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	196						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGCGCCCATAGCCTGAGGCCA	0.687000													20	36					0	0	0.008871	0	0
MYLK3	91807	broad.mit.edu	37	16	46781992	46781992	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:46781992C>T	ENST00000394809.4	-	1	229	c.114G>A	c.(112-114)caG>caA	p.Q38Q	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	38					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AGTGCAGGAGCTGGTCCACCT	0.602000													31	44					0	0	0.013726	0	0
LPAR1	1902	broad.mit.edu	37	9	113734378	113734378	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:113734378G>A	ENST00000374431.3	-	3	403	c.20C>T	c.(19-21)tCc>tTc	p.S7F	LPAR1_ENST00000541779.1_Intron|LPAR1_ENST00000374430.2_Missense_Mutation_p.S7F|LPAR1_ENST00000538760.1_Intron|LPAR1_ENST00000358883.4_Missense_Mutation_p.S7F	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	7					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						TACAGGGATGGAAGTAGAGAT	0.458000													25	101					0	0	0.007291	0	0
PSMD2	5708	broad.mit.edu	37	3	184019347	184019347	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:184019347C>T	ENST00000310118.4	+	4	938	c.380C>T	c.(379-381)tCc>tTc	p.S127F	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_5'UTR|PSMD2_ENST00000435761.1_5'UTR|PSMD2_ENST00000459910.1_3'UTR	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	127					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GACATCATCTCCGTTTTGGCC	0.488000													32	57					0	0	0.008361	0	0
ZNF425	155054	broad.mit.edu	37	7	148801241	148801241	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:148801241C>T	ENST00000378061.2	-	4	1854	c.1722G>A	c.(1720-1722)cgG>cgA	p.R574R		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	574					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCCTGTGCATCCGCTGGTGGA	0.597000													8	28					0	0	0.006214	0	0
VGLL1	51442	broad.mit.edu	37	X	135618372	135618372	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:135618372G>A	ENST00000370634.3	+	2	363	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial like 1 (Drosophila)	65					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					GAGTCAGAGTGAAGGTGTGAT	0.527000													33	13					0	0	0.006999	0	0
ASXL3	80816	broad.mit.edu	37	18	31325889	31325889	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:31325889C>T	ENST00000269197.5	+	12	6077	c.6077C>T	c.(6076-6078)cCt>cTt	p.P2026L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2026	Pro-rich.				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						ccccctccccctccacccttg	0.587000													3	3					0	0	0.004672	0	0
SYNE1	23345	broad.mit.edu	37	6	152779912	152779912	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:152779912G>A	ENST00000367255.5	-	22	3149	c.2548C>T	c.(2548-2550)Ctt>Ttt	p.L850F	SYNE1_ENST00000341594.5_Missense_Mutation_p.L857F|SYNE1_ENST00000367253.4_Missense_Mutation_p.L850F|SYNE1_ENST00000413186.2_Missense_Mutation_p.L850F|SYNE1_ENST00000448038.1_Missense_Mutation_p.L857F|SYNE1_ENST00000495090.2_Missense_Mutation_p.L417F|SYNE1_ENST00000367248.3_Missense_Mutation_p.L840F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L857F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L850F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	850					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)		TGTTTAAAAAGGGCACTCGAT	0.383000										HNSCC(10;0.0054)			19	38					0	0	0.014323	0	0
NRP1	8829	broad.mit.edu	37	10	33502411	33502411	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:33502411C>T	ENST00000265371.4	-	10	2042	c.1517G>A	c.(1516-1518)cGa>cAa	p.R506Q	NRP1_ENST00000374823.5_Missense_Mutation_p.R506Q|NRP1_ENST00000374822.4_Missense_Mutation_p.R506Q|NRP1_ENST00000395995.1_Missense_Mutation_p.R506Q|NRP1_ENST00000466932.1_5'UTR|NRP1_ENST00000374867.2_Missense_Mutation_p.R506Q|NRP1_ENST00000374816.3_Missense_Mutation_p.R506Q|NRP1_ENST00000374821.5_Missense_Mutation_p.R506Q|RP11-342D11.2_ENST00000451530.1_RNA			O14786	NRP1_HUMAN	neuropilin 1	506	F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CTTGTTCTCTCGGTGCTTCCC	0.527000													22	70					0	0	0.014323	0	0
NALCN	259232	broad.mit.edu	37	13	101742293	101742293	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:101742293G>A	ENST00000251127.6	-	29	3375	c.3294C>T	c.(3292-3294)ttC>ttT	p.F1098F		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1098						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCACATTGTCGAAATTAAAGT	0.463000													29	166					0	0	0.010818	0	0
SMURF2	64750	broad.mit.edu	37	17	62557655	62557655	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:62557655G>A	ENST00000262435.9	-	12	1466	c.1279C>T	c.(1279-1281)Cgt>Tgt	p.R427C	SMURF2_ENST00000578200.1_5'UTR	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	427	HECT.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TCTTCTCCACGAAATTTTATC	0.363000													14	11					0	0	0.004007	0	0
PEG3	5178	broad.mit.edu	37	19	57328787	57328787	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:57328787G>A	ENST00000326441.9	-	10	1386	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.F341F|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Silent_p.F215F|PEG3_ENST00000598410.1_Silent_p.F217F|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	341					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACATTCTGGGGAATCTCTGTG	0.473000													7	47					0	0	0.001984	0	0
C8orf34	116328	broad.mit.edu	37	8	69351846	69351846	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:69351846G>A	ENST00000337103.4	+	1	1699	c.107G>A	c.(106-108)gGa>gAa	p.G36E	C8orf34_ENST00000348340.2_Missense_Mutation_p.G61E|C8orf34_ENST00000539993.1_Missense_Mutation_p.G61E|C8orf34_ENST00000518698.1_Missense_Mutation_p.G147E|C8orf34_ENST00000523686.1_Missense_Mutation_p.G61E|C8orf34_ENST00000349492.3_3'UTR			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	61					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			ACTTTGTCTGGATCTGCAGCT	0.373000													19	20					0	0	0.007413	0	0
COL4A6	1288	broad.mit.edu	37	X	107438355	107438355	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:107438355C>T	ENST00000334504.7	-	15	1138	c.903_splice	c.e15-1	p.G302_splice	COL4A6_ENST00000372216.4_Splice_Site_p.G303_splice|COL4A6_ENST00000545689.1_Splice_Site_p.G302_splice|COL4A6_ENST00000394872.2_Intron|COL4A6_ENST00000538570.1_Splice_Site_p.G302_splice	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	303	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ACCCATGGGACCCTGTAAAGA	0.403000									Alport syndrome with Diffuse Leiomyomatosis				38	18					0	0	0.009718	0	0
TTN	7273	broad.mit.edu	37	2	179439256	179439256	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179439256C>T	ENST00000589042.1	-	326	71827	c.71603G>A	c.(71602-71604)cGa>cAa	p.R23868Q	TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R14803Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R14928Q|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R21300Q|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R14995Q|TTN_ENST00000591111.1_Missense_Mutation_p.R22227Q|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22227	Ig-like 120.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R14803Q(1)|p.R21298Q(1)|p.R14928Q(1)|p.R14995Q(1)		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)			AATACCATTTCGTTCTTTTCT	0.418000													36	111					0	0	0.003755	0	0
CACNA1G	8913	broad.mit.edu	37	17	48697080	48697080	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:48697080C>T	ENST00000354983.4	+	32	6088	c.5716C>T	c.(5716-5718)Cag>Tag	p.Q1906*	CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000502264.1_Intron|CACNA1G_ENST00000515411.1_Nonsense_Mutation_p.Q1922*|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000507336.1_Nonsense_Mutation_p.Q1929*|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000359106.5_Nonsense_Mutation_p.Q1940*|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000515765.1_Nonsense_Mutation_p.Q1929*|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000510115.1_Nonsense_Mutation_p.Q1906*|CACNA1G_ENST00000507510.2_Nonsense_Mutation_p.Q1940*|CACNA1G_ENST00000513689.2_Nonsense_Mutation_p.Q1895*|CACNA1G_ENST00000505165.1_Intron	NM_198396.2	NP_938406.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1940					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCTGCTGATCCAGGGCTCCCT	0.672000													12	7					0	0	0.013537	0	0
CD1E	913	broad.mit.edu	37	1	158326570	158326570	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158326570G>A	ENST00000444681.2	+	5	1047	c.754G>A	c.(754-756)Gga>Aga	p.G252R	CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368166.3_Missense_Mutation_p.G150R|CD1E_ENST00000368154.1_Missense_Mutation_p.G107R|CD1E_ENST00000368155.3_Missense_Mutation_p.G194R|CD1E_ENST00000368165.3_Missense_Mutation_p.G261R|CD1E_ENST00000368156.1_Missense_Mutation_p.G249R|CD1E_ENST00000368163.3_Missense_Mutation_p.G284R|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368160.3_Missense_Mutation_p.G339R|CD1E_ENST00000368157.1_Missense_Mutation_p.G95R|CD1E_ENST00000368167.3_Missense_Mutation_p.G351R|CD1E_ENST00000452291.2_Missense_Mutation_p.G162R	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	351	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CTTTCTCATGGGAGCCAACAC	0.433000													24	40					0	0	0.014323	0	0
LARGE	9215	broad.mit.edu	37	22	34046368	34046368	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:34046368G>A	ENST00000354992.2	-	4	964	c.393C>T	c.(391-393)gtC>gtT	p.V131V	LARGE_ENST00000402320.1_Silent_p.V131V|LARGE_ENST00000437602.2_Silent_p.V131V|LARGE_ENST00000462606.1_5'UTR|LARGE_ENST00000397394.2_Silent_p.V131V|LARGE_ENST00000337431.2_Silent_p.V131V	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	131					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				ATTTCTCCACGACCGGCTGCT	0.597000													18	76					0	0	0.010504	0	0
HAS2	3037	broad.mit.edu	37	8	122626715	122626715	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:122626715G>A	ENST00000303924.4	-	4	1830	c.1293C>T	c.(1291-1293)atC>atT	p.I431I		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	431						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AGACCATGACGATATTTCCTC	0.423000													30	82					0	0	0.009535	0	0
IFNA14	3448	broad.mit.edu	37	9	21239574	21239574	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:21239574C>T	ENST00000380222.2	-	1	404	c.361G>A	c.(361-363)Gcc>Acc	p.A121T		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	121					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ATCACACAGGCTTCCAGGTCA	0.443000													68	97					0	0	0.014410	0	0
DNAH8	1769	broad.mit.edu	37	6	38875751	38875751	+	Missense_Mutation	SNP	G	G	A	rs146541069		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:38875751G>A	ENST00000359357.3	+	62	8971	c.8717G>A	c.(8716-8718)cGa>cAa	p.R2906Q	DNAH8_ENST00000441566.1_Missense_Mutation_p.R2870Q|DNAH8_ENST00000449981.2_Missense_Mutation_p.R3123Q					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						TTGTTTGCACGAGATGAGATG	0.413000													27	39					0	0	0.007291	0	0
INTS4	92105	broad.mit.edu	37	11	77594889	77594889	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:77594889G>A	ENST00000534064.1	-	22	2736	c.2702C>T	c.(2701-2703)aCc>aTc	p.T901I	AAMDC_ENST00000304716.8_Intron|AAMDC_ENST00000532481.1_Intron|AAMDC_ENST00000527134.1_Intron|INTS4_ENST00000535943.1_Missense_Mutation_p.T276I	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	901				HT -> PP (in Ref. 1; AAQ13616).	snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TGTCCAAGCGGTGTGGGAGAG	0.532000													8	8					0	0	0.004482	0	0
GPR39	2863	broad.mit.edu	37	2	133174768	133174768	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:133174768C>T	ENST00000329321.3	+	1	622	c.153C>T	c.(151-153)acC>acT	p.T51T		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	51						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACAGCGCCACCATTCGGGTCA	0.532000													17	42					0	0	0.004990	0	0
CNTN3	5067	broad.mit.edu	37	3	74383952	74383952	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:74383952G>A	ENST00000263665.6	-	12	1629	c.1602C>T	c.(1600-1602)acC>acT	p.T534T		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	534	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGAAATACCAGGTAAAGATGA	0.418000													21	31					0	0	0.008871	0	0
FMN1	342184	broad.mit.edu	37	15	33359009	33359009	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:33359009C>T	ENST00000334528.9	-	1	1076	c.1077G>A	c.(1075-1077)aaG>aaA	p.K359K	FMN1_ENST00000559150.1_Intron|FMN1_ENST00000558197.1_Silent_p.K359K|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559047.1_Intron	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	453	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GGTCTGCTCCCTTCGGTTCAG	0.567000													32	59					0	0	0.003755	0	0
HRNR	388697	broad.mit.edu	37	1	152187486	152187486	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152187486G>A	ENST00000368801.2	-	3	6694	c.6619C>T	c.(6619-6621)Cgt>Tgt	p.R2207C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2207					keratinization		calcium ion binding|protein binding	p.R2207C(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGAAGAACGACCTGAGCCA	0.602000													33	444					0	0	0.014410	0	0
FSIP2	401024	broad.mit.edu	37	2	186672268	186672268	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:186672268G>A	ENST00000343098.5	+	17	18502	c.18502G>A	c.(18502-18504)Gaa>Aaa	p.E6168K	FSIP2_ENST00000424728.1_Missense_Mutation_p.E6079K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGATGATGATGAAATTATTCA	0.323000													42	60					0	0	0.006999	0	0
YTHDC1	91746	broad.mit.edu	37	4	69185861	69185861	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:69185861G>A	ENST00000344157.4	-	12	1999	c.1664C>T	c.(1663-1665)cCt>cTt	p.P555L	YTHDC1_ENST00000355665.3_Missense_Mutation_p.P537L|YTHDC1_ENST00000579690.1_Missense_Mutation_p.P555L	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	555	Arg-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						GTGAAACTCAGGGGGATAGTC	0.313000													21	14					0	0	0.006320	0	0
PRKCB	5579	broad.mit.edu	37	16	24166058	24166058	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:24166058G>A	ENST00000303531.7	+	10	1271	c.1119G>A	c.(1117-1119)ctG>ctA	p.L373L	PRKCB_ENST00000321728.7_Silent_p.L373L	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	373	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TGAAGATCCTGAAGAAGGACG	0.552000													5	48					0	0	0.001168	0	0
KMO	8564	broad.mit.edu	37	1	241714307	241714307	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:241714307G>A	ENST00000366559.4	+	4	586	c.275G>A	c.(274-276)gGa>gAa	p.G92E	KMO_ENST00000366558.3_Missense_Mutation_p.G92E|KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366557.4_Missense_Mutation_p.G92E	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	92					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			TCTCTTTCAGGAAAAAAGTCT	0.403000													25	130					0	0	0.007291	0	0
C10orf113	387638	broad.mit.edu	37	10	21435307	21435307	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:21435307G>A	ENST00000529198.1	-	1	181	c.131C>T	c.(130-132)tCt>tTt	p.S44F	C10orf113_ENST00000377118.4_Missense_Mutation_p.S34F|NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000534331.1_Missense_Mutation_p.S44F	NM_001177483.1	NP_001170954.1	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	44										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						AGCCACACAAGAAAAAAATGA	0.438000													12	30					0	0	0.001855	0	0
CCDC108	255101	broad.mit.edu	37	2	219868948	219868948	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:219868948C>T	ENST00000341552.5	-	33	5364	c.5281G>A	c.(5281-5283)Gaa>Aaa	p.E1761K	CCDC108_ENST00000453220.1_Missense_Mutation_p.E1761K|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Missense_Mutation_p.E1761K	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1761	Glu-rich.					integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		tccccctcttccttctTTCCC	0.557000													18	55					0	0	0.010504	0	0
MSR1	4481	broad.mit.edu	37	8	16007775	16007775	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:16007775C>T	ENST00000350896.3	-	7	1141	c.944G>A	c.(943-945)gGa>gAa	p.G315E	MSR1_ENST00000262101.5_Missense_Mutation_p.G315E|MSR1_ENST00000445506.2_Missense_Mutation_p.G333E|MSR1_ENST00000536385.1_Missense_Mutation_p.G89E|MSR1_ENST00000355282.2_Missense_Mutation_p.G315E|MSR1_ENST00000381998.4_Missense_Mutation_p.G315E	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	315	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TCCTCGACTTCCAGGAAAGCC	0.368000													19	27					0	0	0.002780	0	0
TEX15	56154	broad.mit.edu	37	8	30699874	30699874	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:30699874C>T	ENST00000256246.2	-	1	6734	c.6660G>A	c.(6658-6660)agG>agA	p.R2220R		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2220										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTAAATCTTTCCTAGGGGCAG	0.338000													19	59					0	0	0.006122	0	0
NUP188	23511	broad.mit.edu	37	9	131745227	131745227	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:131745227C>T	ENST00000372577.2	+	17	1737	c.1716C>T	c.(1714-1716)gtC>gtT	p.V572V		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	572					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TTGATCTCGTCCATAAGGTCA	0.507000													40	62					0	0	0.007835	0	0
KCNMA1	3778	broad.mit.edu	37	10	78799304	78799304	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:78799304G>A	ENST00000286627.5	-	15	2793	c.1841C>T	c.(1840-1842)tCc>tTc	p.S614F	KCNMA1_ENST00000404857.1_Missense_Mutation_p.S614F|KCNMA1_ENST00000406533.3_Missense_Mutation_p.S614F|KCNMA1_ENST00000372440.1_Missense_Mutation_p.S614F|KCNMA1_ENST00000354353.5_Missense_Mutation_p.S614F|KCNMA1_ENST00000404771.3_Missense_Mutation_p.S614F|KCNMA1_ENST00000286628.8_Missense_Mutation_p.S614F|KCNMA1_ENST00000372443.1_Missense_Mutation_p.S614F	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	614	Segment S8.				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)	AGTAGGGAAGGACAGACCCAC	0.458000													3	19					0	0	0.004672	0	0
ZNF454	285676	broad.mit.edu	37	5	178392789	178392789	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:178392789C>T	ENST00000320129.3	+	5	1687	c.1384C>T	c.(1384-1386)Cat>Tat	p.H462Y	ZNF454_ENST00000519564.1_Missense_Mutation_p.H462Y	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TAAGAGAATTCATACTAGGGA	0.398000													14	44					0	0	0.002450	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43625417	43625417	+	Silent	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:43625417T>C	ENST00000332857.6	-	4	3298	c.3270A>G	c.(3268-3270)caA>caG	p.Q1090Q		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		TGCATGAGCCTTGACAGTTTG	0.502000													79	157					0	0	0.014410	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587688	42587688	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:42587688G>A	ENST00000289957.2	+	5	1366	c.1238G>A	c.(1237-1239)aGc>aAc	p.S413N		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	413					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CATTTTATCAGCCAGGTGAGT	0.348000													5	29					0	0	0.001984	0	0
OR4M1	441670	broad.mit.edu	37	14	20248730	20248730	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:20248730A>G	ENST00000315957.4	+	1	330	c.249A>G	c.(247-249)atA>atG	p.I83M		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAATGCTCATAGACTTCTTTG	0.448000													49	371					0	0	0.014410	0	0
ZNF564	163050	broad.mit.edu	37	19	12638052	12638052	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:12638052G>A	ENST00000339282.7	-	4	1066	c.870C>T	c.(868-870)ttC>ttT	p.F290F	CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TGAAAGAAATGAAGGCCTTCC	0.393000													15	42					0	0	0.003163	0	0
CAB39L	81617	broad.mit.edu	37	13	49951247	49951247	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:49951247T>A	ENST00000355854.4	-	3	629	c.132A>T	c.(130-132)aaA>aaT	p.K44N	CAB39L_ENST00000410043.1_Missense_Mutation_p.K44N|CAB39L_ENST00000409308.1_Missense_Mutation_p.K44N|CAB39L_ENST00000347776.5_Missense_Mutation_p.K44N	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	44					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		CTTGCAGTGATTTAGACACTT	0.393000													6	31					0	0	0.001984	0	0
ATM	472	broad.mit.edu	37	11	108163385	108163385	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:108163385C>T	ENST00000278616.4	+	30	4861	c.4476C>T	c.(4474-4476)tcC>tcT	p.S1492S	ATM_ENST00000452508.2_Silent_p.S1492S	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1492					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GTAGCTTCTCCCTTTGTTGTG	0.373000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			26	109					0	0	0.006320	0	0
GRID1	2894	broad.mit.edu	37	10	87487638	87487638	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:87487638C>T	ENST00000327946.7	-	10	1592	c.1507G>A	c.(1507-1509)Ggg>Agg	p.G503R	GRID1_ENST00000536331.1_Missense_Mutation_p.G74R	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	503						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CCGATCATCCCGTTCCAGGAG	0.537000										Multiple Myeloma(13;0.14)			14	43					0	0	0.001855	0	0
OR7D4	125958	broad.mit.edu	37	19	9324650	9324650	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9324650G>A	ENST00000308682.2	-	1	892	c.864C>T	c.(862-864)ttC>ttT	p.F288F		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GGCTGTAGATGAAGGGGTTCA	0.557000													16	45					0	0	0.006122	0	0
ZNF462	58499	broad.mit.edu	37	9	109687619	109687619	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:109687619C>T	ENST00000277225.5	+	3	1715	c.1426C>T	c.(1426-1428)Ccg>Tcg	p.P476S	ZNF462_ENST00000457913.1_Missense_Mutation_p.P476S			Q96JM2	ZN462_HUMAN	zinc finger protein 462	476					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGACGAATGTCCGTTTACTTG	0.458000													14	48					0	0	0.001855	0	0
MMP7	4316	broad.mit.edu	37	11	102395787	102395787	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:102395787C>T	ENST00000260227.4	-	4	545	c.493G>A	c.(493-495)Gac>Aac	p.D165N		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	165					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		GGGTAGGAGTCCCCATGAGCT	0.448000													6	25					0	0	0.001984	0	0
CSMD3	114788	broad.mit.edu	37	8	113871494	113871494	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:113871494C>T	ENST00000297405.5	-	11	1879	c.1633_splice	c.e11-1	p.V545_splice	CSMD3_ENST00000455883.2_Splice_Site_p.V441_splice|CSMD3_ENST00000352409.3_Splice_Site_p.V545_splice|CSMD3_ENST00000343508.3_Splice_Site_p.V505_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	545	Sushi 2.					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						CACACGTTTTCACTAAAAGAG	0.348000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	27					0	0	0.003163	0	0
OR5M9	390162	broad.mit.edu	37	11	56230593	56230593	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:56230593G>A	ENST00000279791.1	-	1	284	c.285C>T	c.(283-285)tgC>tgT	p.C95C		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ACTGCACCAAGCATCCCACAT	0.493000													28	41					0	0	0.013726	0	0
CPNE7	27132	broad.mit.edu	37	16	89655186	89655186	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:89655186C>T	ENST00000268720.5	+	12	1386	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	CPNE7_ENST00000319518.8_Missense_Mutation_p.S344F	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	419	VWFA.				lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GCACTGGTGTCCGTGGGCGAG	0.622000													5	21					0	0	0.001168	0	0
ILDR1	286676	broad.mit.edu	37	3	121712060	121712060	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:121712060G>A	ENST00000273691.3	-	6	1509	c.1404C>T	c.(1402-1404)taC>taT	p.Y468Y	ILDR1_ENST00000393631.1_Silent_p.Y423Y|ILDR1_ENST00000462014.1_Silent_p.Y480Y|ILDR1_ENST00000344209.5_Silent_p.Y512Y|ILDR1_ENST00000460554.1_5'UTR	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	512						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CAAGTGAGCGGTAGCTAGGCG	0.642000													3	11					0	0	0.004672	0	0
GLIS3	169792	broad.mit.edu	37	9	4118013	4118013	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:4118013C>T	ENST00000324333.10	-	3	1193	c.1000G>A	c.(1000-1002)Gac>Aac	p.D334N	GLIS3_ENST00000381971.3_Missense_Mutation_p.D489N	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	334					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TCCCCGTCGTCGTCCAGGGTG	0.701000													27	30					0	0	0.006320	0	0
POPDC3	64208	broad.mit.edu	37	6	105606500	105606500	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:105606500C>T	ENST00000254765.3	-	4	999	c.721G>A	c.(721-723)Gat>Aat	p.D241N	BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000369120.2_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	241						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				TAGAGTTTATCTGCAATGTCA	0.393000													43	89					0	0	0.013114	0	0
ATAD2	29028	broad.mit.edu	37	8	124371873	124371873	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:124371873G>A	ENST00000287394.5	-	10	1317	c.1210C>T	c.(1210-1212)Cga>Tga	p.R404*	ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ATTTTCATTCGATCTTTATAA	0.353000													9	33					0	0	0.010729	0	0
ROR2	4920	broad.mit.edu	37	9	94486579	94486579	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:94486579G>A	ENST00000375708.3	-	9	2395	c.2197C>T	c.(2197-2199)Ccc>Tcc	p.P733S	ROR2_ENST00000375715.1_Missense_Mutation_p.P593S|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	733	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CGCCGGCTGGGGAACTCGTTC	0.647000													28	32					0	0	0.008361	0	0
SAMD9	54809	broad.mit.edu	37	7	92731309	92731309	+	Missense_Mutation	SNP	C	C	T	rs138600971	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:92731309C>T	ENST00000379958.2	-	3	4371	c.4102G>A	c.(4102-4104)Gaa>Aaa	p.E1368K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1368						cytoplasm		p.E1368K(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AAAGTATATTCGTTCACTATA	0.348000													28	63					0	0	0.006320	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74575135	74575135	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:74575135C>T	ENST00000354431.4	-	5	1001	c.810G>A	c.(808-810)aaG>aaA	p.K270K	LRRIQ3_ENST00000370909.2_Silent_p.K162K|LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000395089.1_Silent_p.K270K	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	270										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AAAAGAGATCCTTAAGGAGCT	0.269000													18	19					0	0	0.006122	0	0
PPFIA4	8497	broad.mit.edu	37	1	203017806	203017806	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:203017806C>T	ENST00000367240.2	+	11	1847	c.1320C>T	c.(1318-1320)ctC>ctT	p.L440L	PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000447715.2_Silent_p.L444L|PPFIA4_ENST00000414050.2_Silent_p.L147L			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	134					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GTCTGCAGCTCCACCTGAAGG	0.657000													7	13					0	0	0.006214	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3395096	3395096	+	Silent	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:3395096C>A	ENST00000378378.4	+	12	2139	c.1734C>A	c.(1732-1734)tcC>tcA	p.S578S	ARHGEF16_ENST00000378373.1_Silent_p.S290S|ARHGEF16_ENST00000413250.2_Silent_p.S282S|ARHGEF16_ENST00000378371.2_Silent_p.S290S	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	578	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GTAGCTCCTCCGTGCCCCACC	0.662000													27	43					2.65835e-16	2.9157e-16	0.007291	1	0
TP53	7157	broad.mit.edu	37	17	7577070	7577070	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:7577070G>A	ENST00000420246.2	-	8	1000	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C	TP53_ENST00000359597.4_Missense_Mutation_p.R290C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R290C|TP53_ENST00000269305.4_Missense_Mutation_p.R290C|TP53_ENST00000445888.2_Missense_Mutation_p.R290C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	290	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs55819519).|R -> L (in LFS; germline mutation and 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.N288fs*13(17)|p.0?(8)|p.R290C(3)|p.?(2)|p.R290fs*53(2)|p.R290fs*55(1)|p.T284_G293del10(1)|p.L265_K305del41(1)|p.N288fs*15(1)|p.R290fs*12(1)|p.R290fs*50(1)|p.K291fs*12(1)|p.R290fs*57(1)|p.R290_P295>X(1)|p.E285fs*13(1)|p.R290S(1)|p.V272_K292del21(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)		CCTTTCTTGCGGAGATTCTCT	0.567000		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)			17	17					0	0	0.006122	0	0
GPR63	81491	broad.mit.edu	37	6	97246843	97246843	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:97246843G>A	ENST00000229955.3	-	2	1110	c.765C>T	c.(763-765)ttC>ttT	p.F255F	GPR63_ENST00000417980.1_Silent_p.F255F	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	255						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GTATTACCAGGAAGGGTATGA	0.473000													34	45					0	0	0.003755	0	0
SLC26A9	115019	broad.mit.edu	37	1	205902073	205902073	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:205902073C>T	ENST00000367135.3	-	3	378	c.265_splice	c.e3+1	p.G89_splice	SLC26A9_ENST00000367134.2_Splice_Site_p.G89_splice|SLC26A9_ENST00000340781.4_Splice_Site_p.G89_splice	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	89						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GCCCCTTCACCTTGTGGGACC	0.572000													10	19					0	0	0.006214	0	0
KCNG4	93107	broad.mit.edu	37	16	84270666	84270666	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:84270666G>A	ENST00000568181.1	-	2	546	c.426C>T	c.(424-426)tcC>tcT	p.S142S	KCNG4_ENST00000308251.4_Silent_p.S142S			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	142						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CCTCCTGGAAGGACAGCGCGC	0.652000													4	23					0	0	0.009096	0	0
IGHV3OR15-7	28318	broad.mit.edu	37	15	20193185	20193185	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:20193185C>T	ENST00000558565.2	-	0	82																											GACCAAGCCTCCCCCAGACTC	0.567000													8	19					0	0	0.004482	0	0
KL	9365	broad.mit.edu	37	13	33629411	33629411	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:33629411C>T	ENST00000380099.3	+	3	1566	c.1558C>T	c.(1558-1560)Ccc>Tcc	p.P520S	KL_ENST00000426690.2_Missense_Mutation_p.P213S|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	520	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	p.P520S(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AGGGACATTTCCCTGTGACTT	0.438000													19	31					0	0	0.007413	0	0
SV2C	22987	broad.mit.edu	37	5	75596660	75596660	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:75596660G>A	ENST00000502798.2	+	11	2185	c.1743G>A	c.(1741-1743)tgG>tgA	p.W581*	RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Nonsense_Mutation_p.W581*	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	581					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GTGCCTACTGGATTTATTTTG	0.403000													23	56					0	0	0.012319	0	0
OR8S1	341568	broad.mit.edu	37	12	48919720	48919720	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:48919720C>T	ENST00000310194.1	+	1	306	c.306C>T	c.(304-306)ttC>ttT	p.F102F	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CTCAGGTCTTCTTTGTGTTTG	0.522000													32	18					0	0	0.009535	0	0
CSF2RA	1438	broad.mit.edu	37	X	1428348	1428348	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:1428348C>T	ENST00000355432.3	+	11	1149	c.1000C>T	c.(1000-1002)Ctt>Ttt	p.L334F	CSF2RA_ENST00000381529.3_Silent_p.V393V|CSF2RA_ENST00000417535.2_Silent_p.V427V|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000432318.2_Silent_p.V393V|CSF2RA_ENST00000501036.2_Silent_p.V260V|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000381524.3_Silent_p.V393V	NM_172246.2	NP_758449.1	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	0						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GCGAAGAGGTCTTGACCGTGA	0.537000													65	59					0	0	0.014410	0	0
EPHA7	2045	broad.mit.edu	37	6	93967835	93967835	+	Missense_Mutation	SNP	C	C	T	rs138518092		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:93967835C>T	ENST00000369303.4	-	11	2276	c.2092G>A	c.(2092-2094)Gaa>Aaa	p.E698K		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	698	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ACAACCCCTTCCAAATGGACA	0.343000													12	32					0	0	0.010729	0	0
ZNF782	158431	broad.mit.edu	37	9	99580357	99580357	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:99580357G>A	ENST00000481138.1	-	6	2609	c.1948C>T	c.(1948-1950)Cag>Tag	p.Q650*	ZNF782_ENST00000535338.1_Nonsense_Mutation_p.Q518*	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TCCCCACACTGATTACAATTA	0.413000													23	46					0	0	0.009535	0	0
IRGC	56269	broad.mit.edu	37	19	44223287	44223287	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:44223287G>A	ENST00000244314.5	+	2	776	c.577G>A	c.(577-579)Gag>Aag	p.E193K		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	193						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				TGTCCTGCAGGAGATCCGAGA	0.677000													18	53					0	0	0.012319	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643046	1643046	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:1643046G>A	ENST00000399682.1	-	1	322	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	93	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACCCCCACAGGAGACACAGCC	0.687000													11	84					0	0	0.001855	0	0
ACACB	32	broad.mit.edu	37	12	109631465	109631465	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:109631465C>T	ENST00000338432.7	+	16	2531	c.2412C>T	c.(2410-2412)ctC>ctT	p.L804L	ACACB_ENST00000377848.3_Silent_p.L804L|ACACB_ENST00000377854.5_Silent_p.L804L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	804					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GCCAGGTCCTCCCAGCGGATT	0.493000													25	12					0	0	0.009535	0	0
LRRC7	57554	broad.mit.edu	37	1	70493873	70493873	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:70493873G>A	ENST00000310961.5	+	19	2133	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.R567Q|LRRC7_ENST00000415775.2_Intron			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	567						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AACCTAAAACGATATCCAACT	0.323000													23	50					0	0	0.003330	0	0
OR4D5	219875	broad.mit.edu	37	11	123810525	123810525	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:123810525T>G	ENST00000307033.2	+	1	276	c.202T>G	c.(202-204)Ttc>Gtc	p.F68V		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		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)		CAATCTTTCTTTCCTGGACTT	0.463000													6	53					0	0	0.001984	0	0
OR4K1	79544	broad.mit.edu	37	14	20404640	20404640	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:20404640C>T	ENST00000285600.4	+	1	874	c.815C>T	c.(814-816)tCt>tTt	p.S272F		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AAATTTCTTTCTGTGTTCTAC	0.418000													13	151					0	0	0.001855	0	0
TNS4	84951	broad.mit.edu	37	17	38645208	38645208	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:38645208G>A	ENST00000254051.6	-	3	611	c.453C>T	c.(451-453)atC>atT	p.I151I		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	151					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AGGTCACCTCGATGTACTTTA	0.577000													47	23					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179590607	179590607	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179590607G>A	ENST00000589042.1	-	70	20666	c.20442C>T	c.(20440-20442)ttC>ttT	p.F6814F	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.F5570F|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.F6497F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6497	Ig-like 49.						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)			TACTTGTGTGGAAGTTTTTGG	0.428000													11	23					0	0	0.008291	0	0
NRP1	8829	broad.mit.edu	37	10	33481252	33481252	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:33481252C>T	ENST00000265371.4	-	14	2544	c.2019G>A	c.(2017-2019)tgG>tgA	p.W673*	NRP1_ENST00000395995.1_Nonsense_Mutation_p.W673*|NRP1_ENST00000374867.2_Nonsense_Mutation_p.W673*			O14786	NRP1_HUMAN	neuropilin 1	673	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TCAACACACTCCACTTGAGCT	0.493000													48	156					0	0	0.014410	0	0
HOXA2	3199	broad.mit.edu	37	7	27140492	27140492	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:27140492G>A	ENST00000222718.5	-	2	1294	c.984C>T	c.(982-984)ttC>ttT	p.F328F		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	328						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						AATCTGTGGAGAAAACGCTAA	0.507000													26	44					0	0	0.006320	0	0
DGKK	139189	broad.mit.edu	37	X	50129459	50129459	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:50129459G>A	ENST00000376025.2	-	0	2303							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTTGAGGAATGAAGGGCTTCC	0.473000													31	12					0	0	0.012213	0	0
NPAP1	23742	broad.mit.edu	37	15	24921258	24921258	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:24921258C>T	ENST00000329468.2	+	1	718	c.244C>T	c.(244-246)Ctg>Ttg	p.L82L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GGCCGCCCCTCTGGGGGTCCT	0.692000													9	9					0	0	0.006214	0	0
PCSK6	5046	broad.mit.edu	37	15	101865106	101865106	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:101865106C>T	ENST00000348070.1	-	18	2322	c.2323G>A	c.(2323-2325)Gag>Aag	p.E775K	PCSK6_ENST00000358417.3_Missense_Mutation_p.E762K|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	776	CRM (Cys-rich motif).				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTGTTCATCTCCTGGTGGTGA	0.562000													11	32					0	0	0.013537	0	0
CHD7	55636	broad.mit.edu	37	8	61769331	61769331	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:61769331C>T	ENST00000423902.2	+	34	7971	c.7492C>T	c.(7492-7494)Ctt>Ttt	p.L2498F	CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2498					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAGGCATCTCCTTAATGGCTC	0.507000													34	78					0	0	0.004289	0	0
C12orf56	115749	broad.mit.edu	37	12	64746706	64746706	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:64746706G>A	ENST00000543942.2	-	2	1009	c.383C>T	c.(382-384)cCa>cTa	p.P128L	RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Missense_Mutation_p.P128L	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	128										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		ATGATGAAATGGAAATAGGAA	0.313000													19	6					0	0	0.007413	0	0
MARK1	4139	broad.mit.edu	37	1	220752852	220752852	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:220752852A>T	ENST00000366918.4	+	2	805	c.208A>T	c.(208-210)Aat>Tat	p.N70Y	MARK1_ENST00000366917.4_Missense_Mutation_p.N70Y|MARK1_ENST00000472121.1_3'UTR|MARK1_ENST00000402574.1_5'UTR			Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	70	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AGGGAAGGGAAATTTTGCCAA	0.428000													5	35					0	0	0.001168	0	0
AP1G1	164	broad.mit.edu	37	16	71807241	71807241	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:71807241G>A	ENST00000299980.4	-	4	792	c.351C>T	c.(349-351)ttC>ttT	p.F117F	AP1G1_ENST00000433195.2_Silent_p.F140F|AP1G1_ENST00000569748.1_Silent_p.F117F|AP1G1_ENST00000393512.3_Silent_p.F117F|AP1G1_ENST00000423132.2_Silent_p.F117F	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	117					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				ACCCCTGTACGAATTGCGTGC	0.478000													7	52					0	0	0.003080	0	0
DLG2	1740	broad.mit.edu	37	11	83673961	83673961	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:83673961G>A	ENST00000398309.2	-	9	1462	c.992C>T	c.(991-993)cCa>cTa	p.P331L	DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_Missense_Mutation_p.P85L|DLG2_ENST00000398301.2_Missense_Mutation_p.P370L|DLG2_ENST00000330014.6_Missense_Mutation_p.P270L|DLG2_ENST00000532653.1_Missense_Mutation_p.P331L|DLG2_ENST00000524982.1_Missense_Mutation_p.P331L|DLG2_ENST00000531015.1_Missense_Mutation_p.P298L|DLG2_ENST00000280241.8_Missense_Mutation_p.P370L|DLG2_ENST00000418306.2_Missense_Mutation_p.P280L|DLG2_ENST00000376104.2_Missense_Mutation_p.P436L|DLG2_ENST00000543673.1_Missense_Mutation_p.P436L	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	331						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CATGTGCTTTGGAATTGGTGA	0.428000													36	49					0	0	0.005524	0	0
XIST	7503	broad.mit.edu	37	X	73062296	73062296	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:73062296G>A	ENST00000429829.1	-	0	10292					NR_001564.2																						CTTGTCCCCAGAATCTGACAA	0.413000													4	3					0	0	0.009096	0	0
SFMBT2	57713	broad.mit.edu	37	10	7214518	7214518	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:7214518G>A	ENST00000361972.4	-	18	2180	c.2090C>T	c.(2089-2091)tCc>tTc	p.S697F	SFMBT2_ENST00000397167.1_Missense_Mutation_p.S697F	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	697					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CACGAAAATGGATTTCCGTCG	0.602000													9	25					0	0	0.004482	0	0
CATSPER1	117144	broad.mit.edu	37	11	65788969	65788969	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:65788969G>A	ENST00000312106.5	-	4	1826	c.1689C>T	c.(1687-1689)ctC>ctT	p.L563L		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	563					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CCACTGACCTGAGCCTCCGCA	0.617000													12	30					0	0	0.001855	0	0
MFSD5	84975	broad.mit.edu	37	12	53647726	53647726	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:53647726C>T	ENST00000534842.1	+	2	1575	c.1428C>T	c.(1426-1428)atC>atT	p.I476I	MFSD5_ENST00000329548.4_Silent_p.I369I	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	369					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						GAAAGGTGATCCCTGAGACAG	0.517000													49	27					0	0	0.014410	0	0
MIIP	60672	broad.mit.edu	37	1	12082306	12082306	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:12082306C>T	ENST00000235332.4	+	3	438	c.269C>T	c.(268-270)tCg>tTg	p.S90L	MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Missense_Mutation_p.S90L	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	90										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GTGGCCAGATCGGGGGTGGCC	0.677000													31	60					0	0	0.005524	0	0
TARSL2	123283	broad.mit.edu	37	15	102201982	102201982	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:102201982G>A	ENST00000335968.3	-	16	2221	c.2005C>T	c.(2005-2007)Cat>Tat	p.H669Y	TARSL2_ENST00000559492.1_5'UTR	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	669					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATGGCTCGATGAATGATCACA	0.333000													7	18					0	0	0.004482	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140752214	140752214	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140752214C>T	ENST00000576222.1	+	1	2384	c.2253C>T	c.(2251-2253)tcC>tcT	p.S751S	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCTTATTCCTACAATCCGT	0.478000													8	21					0	0	0.003080	0	0
ZFAND2A	90637	broad.mit.edu	37	7	1197838	1197838	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:1197838G>A	ENST00000401903.1	-	2	270	c.11C>T	c.(10-12)cCt>cTt	p.P4L	ZFAND2A_ENST00000316495.3_Missense_Mutation_p.P4L			Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	4						cytoplasm|nucleus	zinc ion binding			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		CCCCAAATCAGGAAACTCCAT	0.428000													33	202					0	0	0.013726	0	0
APC2	10297	broad.mit.edu	37	19	1453051	1453051	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:1453051C>T	ENST00000535453.1	+	1	1764	c.51C>T	c.(49-51)gcC>gcT	p.A17A	APC2_ENST00000233607.2_Silent_p.A17A|APC2_ENST00000238483.4_Silent_p.A17A			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	17					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		AGGTGGAGGCCTTGAAGGCTG	0.622000													15	21					0	0	0.003163	0	0
MAST3	23031	broad.mit.edu	37	19	18255851	18255851	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:18255851C>T	ENST00000262811.5	+	23	2764	c.2764C>T	c.(2764-2766)Ccg>Tcg	p.P922S	AC007192.6_ENST00000600364.1_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	922	Ser-rich.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CCCCCTTTCCCCGCGCTCTCT	0.687000													8	13					0	0	0.006214	0	0
RYR2	6262	broad.mit.edu	37	1	237494187	237494187	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:237494187C>T	ENST00000366574.2	+	3	495	c.178C>T	c.(178-180)Cca>Tca	p.P60S	RYR2_ENST00000542537.1_Missense_Mutation_p.P44S|RYR2_ENST00000360064.6_Silent_p.P57P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	60					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)			GAATGTGCCCCCAGACCTCTC	0.542000													13	46					0	0	0.002450	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136412220	136412220	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:136412220A>G	ENST00000393061.3	+	9	1583	c.1151A>G	c.(1150-1152)aAg>aGg	p.K384R	ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.K275R|ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.K275R			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	275					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GACAGCCCCAAGAACTTCAAC	0.567000													33	146					0	0	0.003755	0	0
SLC35D3	340146	broad.mit.edu	37	6	137243769	137243769	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:137243769C>A	ENST00000331858.4	+	1	368	c.203C>A	c.(202-204)cCc>cAc	p.P68H		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	68					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		ATCGCCGTGCCCCCCTTCGGT	0.716000													13	19					1.05317e-09	1.15051e-09	0.002450	1	0
ZC3HAV1	56829	broad.mit.edu	37	7	138763369	138763369	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:138763369G>A	ENST00000242351.5	-	5	1818	c.1502C>T	c.(1501-1503)tCt>tTt	p.S501F	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.S501F|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.S623F	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	501					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CACCCTAGAAGATGTGGTACT	0.383000													22	33					0	0	0.004656	0	0
GPR132	29933	broad.mit.edu	37	14	105518156	105518156	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:105518156G>C	ENST00000329797.3	-	4	1229	c.318C>G	c.(316-318)caC>caG	p.H106Q	GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000392585.2_Missense_Mutation_p.H97Q|GPR132_ENST00000539291.2_Missense_Mutation_p.H106Q	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	106					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GGGTCCAGCGGTGCTGGTTGC	0.602000													51	90					0	0	0.014410	0	0
ZNF133	7692	broad.mit.edu	37	20	18295808	18295808	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:18295808C>T	ENST00000377671.3	+	7	869	c.310C>T	c.(310-312)Ccc>Tcc	p.P104S	ZNF133_ENST00000316358.4_Missense_Mutation_p.P105S|ZNF133_ENST00000535822.1_Missense_Mutation_p.P10S|ZNF133_ENST00000538547.1_Missense_Mutation_p.P10S|ZNF133_ENST00000401790.1_Missense_Mutation_p.P105S|ZNF133_ENST00000396026.3_Missense_Mutation_p.P108S|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000402618.2_Missense_Mutation_p.P42S	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	105						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						TAATCATCCCCCCTGGATCTT	0.572000													16	64					0	0	0.004990	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555032	44555032	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:44555032C>T	ENST00000330682.2	-	1	1417	c.1182G>A	c.(1180-1182)agG>agA	p.R394R	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	394	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GGCAATGAATCCTCCATAATT	0.582000													9	514					0	0	0.001855	0	0
RGL1	23179	broad.mit.edu	37	1	183885674	183885674	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:183885674C>T	ENST00000304685.3	+	17	2409	c.1948C>T	c.(1948-1950)Ccg>Tcg	p.P650S	RGL1_ENST00000536277.1_Missense_Mutation_p.P613S|RGL1_ENST00000360851.3_Missense_Mutation_p.P615S|RGL1_ENST00000539189.1_Missense_Mutation_p.P586S|RGL1_ENST00000367531.1_Missense_Mutation_p.P650S	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	615	Ras-associating.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CTCCTCCCCTCCGTCCTGCAA	0.507000													27	122					0	0	0.007291	0	0
MYO5B	4645	broad.mit.edu	37	18	47432877	47432877	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:47432877G>A	ENST00000285039.7	-	19	2625	c.2326C>T	c.(2326-2328)Cgg>Tgg	p.R776W		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	776	IQ 1.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.R776W(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGCCATCCCCGGACAGTTTTC	0.592000													9	40					0	0	0.010729	0	0
GKAP1	80318	broad.mit.edu	37	9	86356932	86356932	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:86356932G>A	ENST00000376371.2	-	12	1388	c.988C>T	c.(988-990)Cat>Tat	p.H330Y	GKAP1_ENST00000376362.1_5'UTR|GKAP1_ENST00000376365.3_Missense_Mutation_p.H279Y	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	330					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						AATGCAGCATGAAGTGAAGTC	0.294000													6	21					0	0	0.003080	0	0
C8orf34	116328	broad.mit.edu	37	8	69351845	69351845	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:69351845G>A	ENST00000337103.4	+	1	1698	c.106G>A	c.(106-108)Gga>Aga	p.G36R	C8orf34_ENST00000348340.2_Missense_Mutation_p.G61R|C8orf34_ENST00000539993.1_Missense_Mutation_p.G61R|C8orf34_ENST00000518698.1_Missense_Mutation_p.G147R|C8orf34_ENST00000523686.1_Missense_Mutation_p.G61R|C8orf34_ENST00000349492.3_3'UTR			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	61					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AACTTTGTCTGGATCTGCAGC	0.378000													19	20					0	0	0.007413	0	0
VWA2	340706	broad.mit.edu	37	10	116045715	116045715	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:116045715G>A	ENST00000603594.1	+	11	1336	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	VWA2_ENST00000392982.3_Missense_Mutation_p.E339K	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	339						extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GCTGAGCCTGGAATGCAGGGT	0.627000													10	21					0	0	0.006214	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151140886	151140886	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:151140886C>T	ENST00000367328.1	+	13	1696	c.1384C>T	c.(1384-1386)Cca>Tca	p.P462S	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.P462S	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	462					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AGGTTCTGCTCCATATCGGCT	0.438000													43	66					0	0	0.011902	0	0
MMP24	10893	broad.mit.edu	37	20	33834757	33834757	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:33834757C>T	ENST00000246186.6	+	2	446	c.361C>T	c.(361-363)Ccg>Tcg	p.P121S	MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000566203.1_RNA|EDEM2_ENST00000540582.1_Intron	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	121					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TTACGGGATCCCGGTCACCGG	0.502000													27	46					0	0	0.006320	0	0
ASB13	79754	broad.mit.edu	37	10	5690985	5690985	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:5690985G>A	ENST00000357700.6	-	4	491	c.465C>T	c.(463-465)caC>caT	p.H155H	ASB13_ENST00000479033.1_5'UTR	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	155					intracellular signal transduction		protein binding			NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		CACAGGCAACGTGCAGAGGGG	0.537000													15	50					0	0	0.002450	0	0
CDH4	1002	broad.mit.edu	37	20	60499465	60499465	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:60499465G>A	ENST00000360469.5	+	11	1790	c.1702G>A	c.(1702-1704)Gtg>Atg	p.V568M	CDH4_ENST00000543233.1_Missense_Mutation_p.V494M	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	568	Cadherin 4.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CACGGCGGCAGTGCTGGACCG	0.617000													7	31					0	0	0.003080	0	0
XDH	7498	broad.mit.edu	37	2	31595189	31595189	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:31595189G>A	ENST00000379416.3	-	17	1809	c.1761C>T	c.(1759-1761)gcC>gcT	p.A587A		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	587					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CCTCACCAGAGGCCTGCATGT	0.627000													42	155					0	0	0.013114	0	0
NRP2	8828	broad.mit.edu	37	2	206608234	206608234	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:206608234G>A	ENST00000360409.3	+	9	2390	c.1599G>A	c.(1597-1599)aaG>aaA	p.K533K	NRP2_ENST00000355117.4_Silent_p.K533K|NRP2_ENST00000357118.4_Silent_p.K533K|NRP2_ENST00000417189.1_Silent_p.K533K|NRP2_ENST00000540841.1_Silent_p.K533K|NRP2_ENST00000272849.3_Silent_p.K533K|NRP2_ENST00000357785.5_Silent_p.K533K|NRP2_ENST00000540178.1_Silent_p.K533K|NRP2_ENST00000412873.2_Silent_p.K533K	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	533	F5/8 type C 2.				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						TAAACGGCAAGGACTGGGAAT	0.547000													20	25					0	0	0.008871	0	0
ADAM2	2515	broad.mit.edu	37	8	39627032	39627032	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:39627032G>A	ENST00000265708.4	-	12	1194	c.1091C>T	c.(1090-1092)tCa>tTa	p.S364L	ADAM2_ENST00000521880.1_Missense_Mutation_p.S364L|ADAM2_ENST00000347580.4_Missense_Mutation_p.S345L|ADAM2_ENST00000379853.2_Missense_Mutation_p.S238L	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	364	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.S364L(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTTCTGCTTTGAAATAAAATG	0.408000													10	20					0	0	0.006214	0	0
CSMD2	114784	broad.mit.edu	37	1	34401488	34401488	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:34401488G>A	ENST00000373381.4	-	4	761	c.585C>T	c.(583-585)ttC>ttT	p.F195F		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	155	Sushi 1.					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)				CACCGAGGTTGAAGGTTGAAC	0.602000													37	78					0	0	0.009718	0	0
ME1	4199	broad.mit.edu	37	6	83933564	83933564	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:83933564G>A	ENST00000369705.3	-	12	1480	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F	ME1_ENST00000541327.1_Missense_Mutation_p.S289F|ME1_ENST00000543031.1_Missense_Mutation_p.S380F	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	455					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	GAACACATAGGAATTGTTGCC	0.453000													7	17					0	0	0.001984	0	0
RELN	5649	broad.mit.edu	37	7	103290744	103290744	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:103290744C>T	ENST00000428762.1	-	16	2138	c.1979G>A	c.(1978-1980)gGa>gAa	p.G660E	RELN_ENST00000343529.5_Missense_Mutation_p.G660E|RELN_ENST00000424685.2_Missense_Mutation_p.G660E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	660					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCACATGTTTCCAAGGATTGG	0.443000													27	57					0	0	0.008361	0	0
AK7	122481	broad.mit.edu	37	14	96904217	96904217	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:96904217G>A	ENST00000267584.4	+	6	699	c.655G>A	c.(655-657)Gga>Aga	p.G219R		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	219					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ACTCCAGTATGGAGCGGAAGG	0.363000													20	21					0	0	0.004656	0	0
TTN	7273	broad.mit.edu	37	2	179604785	179604785	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179604785C>T	ENST00000589042.1	-	48	13399	c.13175G>A	c.(13174-13176)aGa>aAa	p.R4392K	TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R4029K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R4154K|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.R4221K|TTN_ENST00000591111.1_Missense_Mutation_p.R4075K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4075	Ig-like 24.						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)			CAGGTTTAATCTCTGCTCTTC	0.468000													10	35					0	0	0.006214	0	0
MYH2	4620	broad.mit.edu	37	17	10443995	10443995	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:10443995C>T	ENST00000245503.5	-	11	1308	c.924G>A	c.(922-924)acG>acA	p.T308T	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.T308T|MYH2_ENST00000532183.1_Silent_p.T308T	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	308	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.T308T(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CATATGGGTTCGTGGTAATCA	0.388000													14	18					0	0	0.004007	0	0
RIMS1	22999	broad.mit.edu	37	6	73102446	73102446	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:73102446G>A	ENST00000264839.7	+	27	4099	c.4099G>A	c.(4099-4101)Gat>Aat	p.D1367N	RIMS1_ENST00000522291.1_Missense_Mutation_p.D1117N|RIMS1_ENST00000425662.2_Missense_Mutation_p.D586N|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000521978.1_Missense_Mutation_p.D1518N|RIMS1_ENST00000414192.2_Missense_Mutation_p.D45N|RIMS1_ENST00000518273.1_Missense_Mutation_p.D1197N|RIMS1_ENST00000538414.1_Missense_Mutation_p.D324N|RIMS1_ENST00000517827.1_Missense_Mutation_p.D652N|RIMS1_ENST00000401910.3_Missense_Mutation_p.D838N|RIMS1_ENST00000523963.1_Missense_Mutation_p.D643N|RIMS1_ENST00000517960.1_Missense_Mutation_p.D1301N|RIMS1_ENST00000348717.5_Missense_Mutation_p.D1301N|RIMS1_ENST00000491071.2_Missense_Mutation_p.D1341N|RIMS1_ENST00000520567.1_Missense_Mutation_p.D1168N			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1518	Ser-rich.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TCAATTCAGTGATTTTCTTGA	0.408000													29	44					0	0	0.006999	0	0
CRYBG3	131544	broad.mit.edu	37	3	97596414	97596414	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:97596414C>A	ENST00000182096.4	+	1	596	c.532C>A	c.(532-534)Ctt>Att	p.L178I		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TGTTTTATCCCTTCTCCAGTC	0.468000													21	46					1.64113e-05	1.78086e-05	0.010504	1	0
FBXO27	126433	broad.mit.edu	37	19	39517545	39517545	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:39517545G>A	ENST00000292853.4	-	5	792	c.673C>T	c.(673-675)Ccc>Tcc	p.P225S	FBXO27_ENST00000600828.1_Missense_Mutation_p.P224S|FBXO27_ENST00000509137.2_Missense_Mutation_p.P225S	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	225	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TGCGGGATGGGATCAGGCACA	0.537000													52	82					0	0	0.014410	0	0
OR7G3	390883	broad.mit.edu	37	19	9236968	9236968	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9236968C>T	ENST00000305444.2	-	1	658	c.659G>A	c.(658-660)cGa>cAa	p.R220Q		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GGAGACAATTCGTGTGTAAGA	0.423000													34	85					0	0	0.012213	0	0
MRO	83876	broad.mit.edu	37	18	48327874	48327874	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:48327874C>T	ENST00000428869.2	-	7	688	c.429_splice	c.e7-1	p.E144_splice	MRO_ENST00000588444.1_Intron|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000431965.2_Intron|MRO_ENST00000256425.2_Splice_Site_p.E144_splice|MRO_ENST00000436348.2_Splice_Site_p.E158_splice|MRO_ENST00000398439.3_Splice_Site_p.E144_splice			Q9BYG7	MSTRO_HUMAN	maestro	144						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		CTGTCGTTCTCCTGCGGTCCC	0.463000													29	128					0	0	0.003271	0	0
SELL	6402	broad.mit.edu	37	1	169672407	169672407	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:169672407G>A	ENST00000236147.4	-	6	1140	c.980C>T	c.(979-981)cCa>cTa	p.P327L	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	314					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					TTGACATATTGGACTAGGATT	0.378000													9	21					0	0	0.008291	0	0
ECT2L	345930	broad.mit.edu	37	6	139167690	139167690	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:139167690G>A	ENST00000423192.1	+	7	940	c.779G>A	c.(778-780)gGa>gAa	p.G260E	ECT2L_ENST00000367682.2_Missense_Mutation_p.G260E|ECT2L_ENST00000541398.1_Missense_Mutation_p.G191E			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	260					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						AATATTTCTGGAAGCCATTCC	0.358000			"""N, Splice, Mis"""		ETP ALL								27	50					0	0	0.004656	0	0
ATP6V1H	51606	broad.mit.edu	37	8	54714393	54714393	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:54714393G>A	ENST00000355221.3	-	7	1148	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	ATP6V1H_ENST00000359530.2_Missense_Mutation_p.R215C|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.R175C|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.R215C	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	215					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism	p.R197C(1)		endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			CAAGCAAAGCGGTACTCATTG	0.448000													19	19					0	0	0.012319	0	0
ACAN	176	broad.mit.edu	37	15	89386841	89386841	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:89386841C>T	ENST00000439576.2	+	6	1387	c.1013C>T	c.(1012-1014)cCc>cTc	p.P338L	ACAN_ENST00000558207.1_Missense_Mutation_p.P338L|ACAN_ENST00000352105.7_Missense_Mutation_p.P338L|ACAN_ENST00000559004.1_Missense_Mutation_p.P338L|ACAN_ENST00000561243.1_Missense_Mutation_p.P338L	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	338					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ACGGGCTACCCCGACCCCTCA	0.647000													11	29					0	0	0.010729	0	0
CTNND2	1501	broad.mit.edu	37	5	11565118	11565118	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:11565118G>A	ENST00000304623.8	-	3	414	c.225C>T	c.(223-225)atC>atT	p.I75I	CTNND2_ENST00000503622.1_5'UTR|CTNND2_ENST00000511377.1_5'UTR|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.I75I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	75					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGCTGGCTACGATCTGCCGTT	0.512000													6	12					0	0	0.001984	0	0
DUSP13	51207	broad.mit.edu	37	10	76867938	76867938	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:76867938C>T	ENST00000372702.3	-	2	242	c.179G>A	c.(178-180)tGg>tAg	p.W60*	DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000491677.2_5'UTR|DUSP13_ENST00000607131.1_Intron			Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	60	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCCCAGCTTCCACAGCTCAAA	0.662000													15	38					0	0	0.004007	0	0
USP17L2	377630	broad.mit.edu	37	8	11995285	11995285	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:11995285T>A	ENST00000333796.3	-	1	1301	c.985A>T	c.(985-987)Agt>Tgt	p.S329C	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	329					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TCGTGACAACTCCACCCAGCG	0.488000													6	31					0	0	0.001984	0	0
EFEMP1	2202	broad.mit.edu	37	2	56097878	56097878	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:56097878C>T	ENST00000394555.2	-	10	1732	c.1297G>A	c.(1297-1299)Gaa>Aaa	p.E433K	EFEMP1_ENST00000394554.1_Missense_Mutation_p.E433K|EFEMP1_ENST00000355426.3_Missense_Mutation_p.E433K|EFEMP1_ENST00000424836.2_Missense_Mutation_p.E295K	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	433	Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCTCCATTTTCATTTCCAGAT	0.403000													13	31					0	0	0.002450	0	0
OR2T2	401992	broad.mit.edu	37	1	248616751	248616751	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248616751C>T	ENST00000342927.3	+	1	675	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCTCTGTCTCCTACACGCAC	0.532000													19	44					0	0	0.008871	0	0
PTPRT	11122	broad.mit.edu	37	20	41306699	41306699	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:41306699G>A	ENST00000373198.3	-	7	1195	c.960C>T	c.(958-960)atC>atT	p.I320I	PTPRT_ENST00000373190.1_Silent_p.I320I|PTPRT_ENST00000373184.1_Silent_p.I320I|PTPRT_ENST00000356100.2_Silent_p.I320I|PTPRT_ENST00000373187.1_Silent_p.I320I|PTPRT_ENST00000373193.3_Silent_p.I320I|PTPRT_ENST00000373201.1_Silent_p.I320I	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	320	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCTTCAGGATGATGGGGCCAT	0.587000													22	51					0	0	0.014323	0	0
PLCE1	51196	broad.mit.edu	37	10	96025694	96025694	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:96025694C>T	ENST00000260766.3	+	16	4894	c.4260C>T	c.(4258-4260)tcC>tcT	p.S1420S	PLCE1_ENST00000371380.2_Silent_p.S1420S|PLCE1_ENST00000371385.3_Silent_p.S1112S|PLCE1_ENST00000371375.1_Silent_p.S1112S	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1420	PI-PLC X-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAGGAGAATCCTCGGTAGAAC	0.428000													13	36					0	0	0.006122	0	0
COL4A6	1288	broad.mit.edu	37	X	107431790	107431790	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:107431790C>T	ENST00000394872.2	-	21	1778	c.1547G>A	c.(1546-1548)gGa>gAa	p.G516E	COL4A6_ENST00000372216.4_Missense_Mutation_p.G516E|COL4A6_ENST00000545689.1_Missense_Mutation_p.G515E|COL4A6_ENST00000334504.7_Missense_Mutation_p.G515E|COL4A6_ENST00000538570.1_Missense_Mutation_p.G515E			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	516	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GCCTCGATCTCCTCTGGCTCC	0.592000									Alport syndrome with Diffuse Leiomyomatosis				23	11					0	0	0.003330	0	0
OR2D2	120776	broad.mit.edu	37	11	6913584	6913584	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:6913584G>A	ENST00000299459.2	-	1	246	c.148C>T	c.(148-150)Cat>Tat	p.H50Y		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GAGTCAACATGAACAAGGGAG	0.458000													9	26					0	0	0.004482	0	0
CYP2C19	1557	broad.mit.edu	37	10	96580331	96580331	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:96580331G>A	ENST00000371321.3	+	6	980	c.898G>A	c.(898-900)Gag>Aag	p.E300K	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	300					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AGCTGGGACAGAGACAACAAG	0.428000													22	46					0	0	0.012319	0	0
ATRNL1	26033	broad.mit.edu	37	10	116919962	116919962	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:116919962C>T	ENST00000355044.3	+	6	1117	c.991C>T	c.(991-993)Caa>Taa	p.Q331*	ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Nonsense_Mutation_p.Q331*	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	331						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CAGTTCTTTTCAAATGGTCCT	0.338000													20	45					0	0	0.008871	0	0
PRDX4	10549	broad.mit.edu	37	X	23697366	23697366	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:23697366C>A	ENST00000379341.4	+	4	686	c.561C>A	c.(559-561)gaC>gaA	p.D187E		NM_006406.1	NP_006397.1	Q13162	PRDX4_HUMAN	peroxiredoxin 4	187	Thioredoxin.				cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity			lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						TCTCAAAGGACTATGGTGTAT	0.408000													34	27					8.16904e-11	8.9387e-11	0.007835	1	0
SACS	26278	broad.mit.edu	37	13	23909674	23909674	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:23909674G>A	ENST00000382298.3	-	10	8929	c.8341C>T	c.(8341-8343)Cat>Tat	p.H2781Y	SACS_ENST00000402364.1_Missense_Mutation_p.H2031Y|SACS_ENST00000382292.3_Missense_Mutation_p.H2781Y	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2781					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ACAGATGCATGAAATTGTTTC	0.353000													20	22					0	0	0.007413	0	0
NUP210L	91181	broad.mit.edu	37	1	154091221	154091221	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:154091221G>A	ENST00000368559.3	-	11	1461	c.1390C>T	c.(1390-1392)Ccc>Tcc	p.P464S	NUP210L_ENST00000271854.3_Missense_Mutation_p.P464S	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	464						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGCATGATGGGAAAATAAATC	0.323000													41	114					0	0	0.006999	0	0
INADL	10207	broad.mit.edu	37	1	62340985	62340985	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:62340985G>A	ENST00000371158.2	+	21	3020	c.2906G>A	c.(2905-2907)aGa>aAa	p.R969K	INADL_ENST00000316485.6_Missense_Mutation_p.R969K	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	969					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CAACAAGGCAGATTTGACGAC	0.333000													21	63					0	0	0.008871	0	0
MTDH	92140	broad.mit.edu	37	8	98657030	98657030	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:98657030C>T	ENST00000336273.3	+	1	624	c.296C>T	c.(295-297)gCc>gTc	p.A99V	MTDH_ENST00000519934.1_Missense_Mutation_p.A76V	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	99	Interaction with BCCIP.				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			ccggccgcggcccccgACGAC	0.677000													3	7					0	0	0.009096	0	0
SIX2	10736	broad.mit.edu	37	2	45235712	45235712	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:45235712G>A	ENST00000303077.6	-	1	857	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	180						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCGGCCGCCCGGTCGCGCTGC	0.687000													27	55					0	0	0.009535	0	0
POTEH	23784	broad.mit.edu	37	22	16279248	16279248	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:16279248C>T	ENST00000343518.6	-	4	1026	c.975G>A	c.(973-975)gtG>gtA	p.V325V		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	325										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTAAAAATTTCACCACTTGCT	0.328000													35	371					0	0	0.009718	0	0
DUOX2	50506	broad.mit.edu	37	15	45389545	45389545	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:45389545G>A	ENST00000389039.6	-	29	4123	c.3738C>T	c.(3736-3738)ttC>ttT	p.F1246F	DUOX2_ENST00000603300.1_Silent_p.F1246F			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1246	Ferric oxidoreductase.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGTAGATGTGGAAAGTGGGCA	0.592000													17	50					0	0	0.007413	0	0
OR4K2	390431	broad.mit.edu	37	14	20344752	20344752	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:20344752G>A	ENST00000298642.2	+	1	362	c.326G>A	c.(325-327)gGa>gAa	p.G109E		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTTTCACTGGAACTGAGATC	0.438000													16	175					0	0	0.004990	0	0
MKLN1	4289	broad.mit.edu	37	7	131128415	131128415	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:131128415C>T	ENST00000352689.6	+	11	1389	c.1349C>T	c.(1348-1350)cCt>cTt	p.P450L	MKLN1_ENST00000421797.2_Missense_Mutation_p.P358L	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	450					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					AATGCTGGGCCTGAGGACATC	0.428000													9	54					0	0	0.004482	0	0
LRRC66	339977	broad.mit.edu	37	4	52861173	52861173	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:52861173C>T	ENST00000343457.3	-	4	2021	c.2015G>A	c.(2014-2016)aGa>aAa	p.R672K		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	672						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ACTGTCCCATCTTGGAGGAAA	0.552000													24	16					0	0	0.004656	0	0
ZNF473	25888	broad.mit.edu	37	19	50548690	50548690	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:50548690C>T	ENST00000595661.1	+	6	1485	c.990C>T	c.(988-990)acC>acT	p.T330T	CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Silent_p.T330T|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Silent_p.T318T|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Silent_p.T330T			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	330	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AGGCTTTTACCCGGATCTTCC	0.507000													11	75					0	0	0.010729	0	0
HRNR	388697	broad.mit.edu	37	1	152187491	152187491	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152187491G>A	ENST00000368801.2	-	3	6689	c.6614C>T	c.(6613-6615)tCa>tTa	p.S2205L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2205					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAACGACCTGAGCCAGACCC	0.607000													14	479					0	0	0.009535	0	0
DNAH9	1770	broad.mit.edu	37	17	11648291	11648291	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:11648291C>T	ENST00000262442.3	+	31	6357	c.6289C>T	c.(6289-6291)Ctc>Ttc	p.L2097F	DNAH9_ENST00000454412.2_Missense_Mutation_p.L2097F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2097					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GATCGGGGACCTCTTTCCCGC	0.572000													15	16					0	0	0.002450	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883655	228883655	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:228883655A>G	ENST00000392056.3	-	7	1961	c.1915T>C	c.(1915-1917)Ttt>Ctt	p.F639L	SPHKAP_ENST00000344657.5_Missense_Mutation_p.F639L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	639						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAGTCCAGAAAGTCTCCAATG	0.488000													18	21					0	0	0.004990	0	0
CSMD3	114788	broad.mit.edu	37	8	113585731	113585731	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:113585731G>A	ENST00000297405.5	-	24	4285	c.4042_splice	c.e24+1	p.T1347_splice	CSMD3_ENST00000455883.2_Splice_Site_p.T1243_splice|CSMD3_ENST00000352409.3_Splice_Site_p.T1347_splice|CSMD3_ENST00000343508.3_Splice_Site_p.T1307_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1347	CUB 7.					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						AATACTTACTGGTATACACAA	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	54					0	0	0.003080	0	0
PYGM	5837	broad.mit.edu	37	11	64525948	64525948	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:64525948C>T	ENST00000164139.3	-	3	783	c.385G>A	c.(385-387)Gat>Aat	p.D129N	PYGM_ENST00000377432.3_Intron	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	129					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	AGCCCCGCATCCTCCTCAATT	0.657000													21	65					0	0	0.004656	0	0
NSD1	64324	broad.mit.edu	37	5	176637091	176637091	+	Missense_Mutation	SNP	C	C	T	rs148196686		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:176637091C>T	ENST00000439151.2	+	5	1736	c.1691C>T	c.(1690-1692)gCc>gTc	p.A564V	NSD1_ENST00000361032.4_Missense_Mutation_p.A461V|NSD1_ENST00000354179.4_Missense_Mutation_p.A295V|NSD1_ENST00000347982.4_Missense_Mutation_p.A295V	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	564					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCCAACACTGCCCCAGGAAGT	0.443000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			12	26					0	0	0.010729	0	0
ANGPT4	51378	broad.mit.edu	37	20	896618	896618	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:896618C>T	ENST00000381922.3	-	1	342	c.240G>A	c.(238-240)ggG>ggA	p.G80G	ANGPT4_ENST00000546022.1_Silent_p.G80G	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	80					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TGGGCAACTTCCCCAGGTGCA	0.622000													29	67					0	0	0.007291	0	0
RGS11	8786	broad.mit.edu	37	16	321019	321019	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:321019C>T	ENST00000397770.3	-	13	960	c.943G>A	c.(943-945)Gcc>Acc	p.A315T	ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000316163.5_Missense_Mutation_p.A294T|RGS11_ENST00000359740.5_Missense_Mutation_p.A304T			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	315	RGS.				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|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				ATGAAGTGGGCCCGCCCCACG	0.687000													15	26					0	0	0.008871	0	0
COL14A1	7373	broad.mit.edu	37	8	121381671	121381671	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:121381671C>T	ENST00000297848.3	+	47	5528	c.5258C>T	c.(5257-5259)tCt>tTt	p.S1753F	COL14A1_ENST00000247781.3_Missense_Mutation_p.S1658F|COL14A1_ENST00000309791.4_Missense_Mutation_p.S1753F	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1753	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAAGGTCCTTCTGGCCAGCCT	0.582000													19	43					0	0	0.008871	0	0
GPR98	84059	broad.mit.edu	37	5	90001301	90001301	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:90001301G>A	ENST00000405460.2	+	37	8567	c.8471G>A	c.(8470-8472)gGa>gAa	p.G2824E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2824					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)		GAACCACATGGAGTTTTAAAT	0.418000													20	76					0	0	0.010504	0	0
ABCG4	64137	broad.mit.edu	37	11	119020882	119020882	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:119020882C>T	ENST00000307417.3	+	2	571	c.207C>T	c.(205-207)tcC>tcT	p.S69S	ABCG4_ENST00000531739.1_Silent_p.S69S|ABCG4_ENST00000449422.2_Silent_p.S69S	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	69	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGTCCTATTCCGTGCGGGAGG	0.617000													52	69					0	0	0.014410	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42375522	42375522	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:42375522C>T	ENST00000290472.3	-	8	640	c.546G>A	c.(544-546)aaG>aaA	p.K182K		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	182					phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CCAGCTCCAGCTTGTCCTGAT	0.592000													16	31					0	0	0.006122	0	0
ENPP3	5169	broad.mit.edu	37	6	132045225	132045225	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:132045225G>A	ENST00000414305.1	+	20	2120	c.1792G>A	c.(1792-1794)Gaa>Aaa	p.E598K	ENPP3_ENST00000357639.3_Missense_Mutation_p.E598K|ENPP3_ENST00000358229.5_Missense_Mutation_p.E598K			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	598					immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TCTCACCCAAGAAGAAAGTAA	0.383000													7	20					0	0	0.003080	0	0
ADAM18	8749	broad.mit.edu	37	8	39502979	39502979	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:39502979G>A	ENST00000265707.5	+	11	1077	c.1032G>A	c.(1030-1032)atG>atA	p.M344I	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.M320I	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	344	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	p.M344I(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CATGCATCATGAATCATGAAG	0.308000													5	35					0	0	0.000602	0	0
HOXA9	3205	broad.mit.edu	37	7	27204563	27204563	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:27204563C>T	ENST00000343483.6	-	1	586	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	HOXA9_ENST00000396345.1_3'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.E12K|HOXA9_ENST00000497089.1_Intron|RP1-170O19.20_ENST00000465941.1_Intron	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	172							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						AAGGCGCCTTCGCTGGGTTGT	0.552000			T	"""NUP98, MSI2"""	AML*								25	44					0	0	0.005443	0	0
TENM2	57451	broad.mit.edu	37	5	167517634	167517634	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:167517634C>T	ENST00000519204.1	+	7	1326	c.1208C>T	c.(1207-1209)cCc>cTc	p.P403L	CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000403607.2_Missense_Mutation_p.P357L|TENM2_ENST00000545108.1_Missense_Mutation_p.P524L|TENM2_ENST00000520394.1_Missense_Mutation_p.P292L|TENM2_ENST00000518659.1_Missense_Mutation_p.P524L					teneurin transmembrane protein 2																		GTTGAGTCTCCCAGGGAACGC	0.522000													7	57					0	0	0.003080	0	0
GPR50	9248	broad.mit.edu	37	X	150348464	150348464	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:150348464G>A	ENST00000218316.3	+	2	478	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	137					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCAGTACGAACGGATCTT	0.542000													30	14					0	0	0.008361	0	0
GABRQ	55879	broad.mit.edu	37	X	151818227	151818227	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:151818227C>T	ENST00000370306.2	+	6	653	c.633C>T	c.(631-633)atC>atT	p.I211I		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	211						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					TTGAAGACATCATATTATTCT	0.448000													27	20					0	0	0.007291	0	0
MIA3	375056	broad.mit.edu	37	1	222801984	222801984	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:222801984C>T	ENST00000344922.5	+	4	1447	c.1422C>T	c.(1420-1422)tcC>tcT	p.S474S	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Silent_p.S474S|MIA3_ENST00000344441.6_Silent_p.S474S	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	474					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TTCAGGAATCCAAGAGGGGCC	0.393000													83	181					0	0	0.014410	0	0
LPPR3	79948	broad.mit.edu	37	19	814684	814684	+	Missense_Mutation	SNP	G	G	A	rs143962053	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:814684G>A	ENST00000359894.2	-	6	728	c.665C>T	c.(664-666)cCg>cTg	p.P222L	LPPR3_ENST00000520876.3_Intron	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN		219						integral to membrane	phosphatidate phosphatase activity										GTGAGGGGCCGGACTCACCGA	0.662000													9	24					0	0	0.008291	0	0
COL7A1	1294	broad.mit.edu	37	3	48625814	48625814	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:48625814C>T	ENST00000328333.8	-	20	2718	c.2611G>A	c.(2611-2613)Ggg>Agg	p.G871R	COL7A1_ENST00000454817.1_Missense_Mutation_p.G871R	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	871	Fibronectin type-III 8.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGAAGCGTCCCCAGGGCTGGC	0.692000													7	11					0	0	0.003080	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46012258	46012258	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:46012258G>A	ENST00000400368.1	-	1	128	c.108C>T	c.(106-108)gaC>gaT	p.D36D	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	36						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						TCTCTGGGCAGTCGTCCACCT	0.687000													6	9					0	0	0.001984	0	0
SORCS3	22986	broad.mit.edu	37	10	106865209	106865209	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:106865209G>A	ENST00000369701.3	+	7	1375	c.1148G>A	c.(1147-1149)gGg>gAg	p.G383E		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	383						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACTAGAAGTGGGCCTTTTGCC	0.473000													21	42					0	0	0.012319	0	0
EPC1	80314	broad.mit.edu	37	10	32560821	32560821	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:32560821C>T	ENST00000319778.6	-	13	2332	c.2030G>A	c.(2029-2031)aGt>aAt	p.S677N	EPC1_ENST00000263062.8_Missense_Mutation_p.S700N|EPC1_ENST00000375110.2_Missense_Mutation_p.S627N	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	700					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TGTAGTACTACTGAGGTGTAA	0.353000													4	25					0	0	0.001168	0	0
WFDC8	90199	broad.mit.edu	37	20	44181880	44181880	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:44181880C>T	ENST00000357199.4	-	5	559	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	WFDC8_ENST00000289953.2_Missense_Mutation_p.E161K	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	161	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				TCCTTACGTTCAGTGAAAGGG	0.493000													18	20					0	0	0.008871	0	0
VPS41	27072	broad.mit.edu	37	7	38768147	38768147	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:38768147G>A	ENST00000310301.4	-	27	2453	c.2399C>T	c.(2398-2400)cCa>cTa	p.P800L	VPS41_ENST00000395969.2_Missense_Mutation_p.P775L	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	800					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CTTACCTGATGGAAGAATAGG	0.373000													21	52					0	0	0.003954	0	0
OR2J2	26707	broad.mit.edu	37	6	29142195	29142195	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:29142195C>T	ENST00000377167.2	+	1	885	c.783C>T	c.(781-783)ctC>ctT	p.L261L		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GCATGTATCTCCAGCCACCAT	0.433000													33	71					0	0	0.012213	0	0
ANGEL1	23357	broad.mit.edu	37	14	77257025	77257025	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:77257025G>A	ENST00000251089.2	-	9	1893	c.1781C>T	c.(1780-1782)cCa>cTa	p.P594L	ANGEL1_ENST00000557179.1_Missense_Mutation_p.P159L	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	594										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		AAGACCCAATGGCATTGTAGT	0.532000													24	24					0	0	0.002780	0	0
GUCY2F	2986	broad.mit.edu	37	X	108697044	108697044	+	Silent	SNP	G	G	A	rs137951058		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:108697044G>A	ENST00000218006.2	-	4	1368	c.1077C>T	c.(1075-1077)atC>atT	p.I359I		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	359					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						TGGCTTGTGCGATAAAGTAAA	0.418000													5	7					0	0	0.000602	0	0
TENM3	55714	broad.mit.edu	37	4	183650163	183650163	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:183650163C>T	ENST00000511685.1	+	14	2537	c.2414C>T	c.(2413-2415)tCc>tTc	p.S805F	TENM3_ENST00000406950.2_Missense_Mutation_p.S805F|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		CTACAGAGTTCCTGCCAGAAT	0.468000													11	11					0	0	0.010729	0	0
SLC2A2	6514	broad.mit.edu	37	3	170715855	170715855	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:170715855C>T	ENST00000314251.3	-	11	1491	c.1412G>A	c.(1411-1413)gGa>gAa	p.G471E	SLC2A2_ENST00000382808.4_Missense_Mutation_p.G352E	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	471					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			CAGGAGCACTCCAGCAAAGAG	0.413000													5	26					0	0	0.000602	0	0
CCDC42	146849	broad.mit.edu	37	17	8644972	8644972	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:8644972C>T	ENST00000293845.3	-	4	538	c.312G>A	c.(310-312)cgG>cgA	p.R104R	CCDC42_ENST00000539522.2_Silent_p.R104R	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	104										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						TGGCGCGGATCCGTTTCTGGT	0.672000													11	5					0	0	0.008291	0	0
FLG	2312	broad.mit.edu	37	1	152283599	152283599	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152283599C>T	ENST00000368799.1	-	3	3798	c.3763G>A	c.(3763-3765)Gaa>Aaa	p.E1255K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1255	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATGATTGTTCCTGTCCCACC	0.562000									Ichthyosis				60	112					0	0	0.014410	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120920	38120920	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:38120920C>T	ENST00000406386.3	+	7	2612	c.2357C>T	c.(2356-2358)gCc>gTc	p.A786V	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	786					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCCAATAGAGCCACACGAGAC	0.542000													18	30					0	0	0.010504	0	0
KIAA1614	57710	broad.mit.edu	37	1	180905581	180905581	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:180905581C>T	ENST00000367588.4	+	5	2591	c.2536C>T	c.(2536-2538)Cct>Tct	p.P846S	KIAA1614_ENST00000367587.1_Missense_Mutation_p.P467S	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	846										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CCCTCGGCCTCCTTCAAGAAG	0.637000													16	40					0	0	0.004990	0	0
PCLO	27445	broad.mit.edu	37	7	82583938	82583938	+	Missense_Mutation	SNP	G	G	A	rs61995903		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82583938G>A	ENST00000423517.2	-	5	6668	c.6331C>T	c.(6331-6333)Ctc>Ttc	p.L2111F	PCLO_ENST00000333891.8_Missense_Mutation_p.L2111F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2042					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTCCTGAGAGAACACTTGAT	0.463000													15	14					0	0	0.003163	0	0
SLC2A4	6517	broad.mit.edu	37	17	7186890	7186890	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:7186890C>T	ENST00000317370.8	+	3	517	c.249C>T	c.(247-249)ctC>ctT	p.L83L	RP1-4G17.2_ENST00000576271.1_RNA|SLC2A4_ENST00000424875.2_Silent_p.L73L|SLC2A4_ENST00000571308.1_Silent_p.L83L	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	83					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						TCTGGGCCCTCTCCGTGGCCA	0.612000													20	56					0	0	0.002780	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6138236	6138236	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:6138236C>T	ENST00000400104.3	-	14	1356	c.1156G>A	c.(1156-1158)Gga>Aga	p.G386R	L3MBTL4_ENST00000317931.7_Missense_Mutation_p.G386R|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.G386R|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.G199R|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.G386R			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	386					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TGGCCTATTCCTCGGCACCCG	0.438000													6	14					0	0	0.004482	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64718908	64718908	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:64718908G>A	ENST00000338957.4	+	3	845	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.E249K	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	249							endonuclease activity|nucleic acid binding|zinc ion binding	p.E110K(1)|p.E196K(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACTGGAGAAGGAAAAGATTCT	0.393000													61	37					0	0	0.014410	0	0
ANO2	57101	broad.mit.edu	37	12	5722088	5722088	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:5722088G>A	ENST00000356134.5	-	20	2039	c.1968C>T	c.(1966-1968)ttC>ttT	p.F656F	ANO2_ENST00000546188.1_Silent_p.F656F|ANO2_ENST00000327087.8_Silent_p.F655F	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	660						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.F656F(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGTAACCATCGAATACATAGA	0.517000													30	20					0	0	0.003271	0	0
NAP1L3	4675	broad.mit.edu	37	X	92926783	92926783	+	Silent	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:92926783T>C	ENST00000373079.3	-	1	1784	c.1521A>G	c.(1519-1521)taA>taG	p.*507*	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	0					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TCAGATTGACTTATTTTCTGT	0.323000													10	4					0	0	0.006214	0	0
SVOPL	136306	broad.mit.edu	37	7	138329483	138329483	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:138329483C>T	ENST00000421622.1	-	5	616	c.408G>A	c.(406-408)ggG>ggA	p.G136G	SVOPL_ENST00000436657.1_Silent_p.G104G|SVOPL_ENST00000419765.3_Silent_p.G256G|SVOPL_ENST00000288513.5_Silent_p.G104G			Q8N434	SVOPL_HUMAN	SVOP-like	256						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CCACCAGCTTCCCCTCCGGCA	0.627000													17	25					0	0	0.008871	0	0
SFTPA2	729238	broad.mit.edu	37	10	81318678	81318678	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:81318678C>T	ENST00000372325.2	-	4	340	c.256G>A	c.(256-258)Gga>Aga	p.G86R	SFTPA2_ENST00000372327.5_Missense_Mutation_p.G86R	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	86	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CCCTTCTCTCCACGCTCTCCA	0.627000									Pulmonary Fibrosis, Idiopathic				37	79					0	0	0.003271	0	0
KCNH6	81033	broad.mit.edu	37	17	61623248	61623248	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:61623248G>A	ENST00000583023.1	+	14	2981	c.2970G>A	c.(2968-2970)ggG>ggA	p.G990G	KCNH6_ENST00000456941.2_Silent_p.G901G|KCNH6_ENST00000581784.1_Silent_p.G901G|KCNH6_ENST00000314672.5_Silent_p.G954G	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	990					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GATTTGCAGGGAGTTGGGGCC	0.567000													30	16					0	0	0.012213	0	0
SEMA3E	9723	broad.mit.edu	37	7	83029529	83029529	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:83029529G>A	ENST00000307792.3	-	11	1648	c.1181C>T	c.(1180-1182)aCc>aTc	p.T394I	SEMA3E_ENST00000427262.1_Missense_Mutation_p.T334I	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	394	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ATAGTCCTTGGTGGTTCCGTA	0.383000													19	101					0	0	0.014323	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963763	88963763	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:88963763G>A	ENST00000333190.4	+	4	2076	c.1467G>A	c.(1465-1467)aaG>aaA	p.K489K		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	489						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GGAACACAAAGGAAGACCACA	0.408000										HNSCC(36;0.09)			10	19					0	0	0.010729	0	0
RBMX2	51634	broad.mit.edu	37	X	129543258	129543258	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:129543258C>T	ENST00000305536.6	+	4	265	c.201C>T	c.(199-201)ctC>ctT	p.L67L	RBMX2_ENST00000469953.1_3'UTR	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	67	RRM.						nucleotide binding|RNA binding			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						ACATTAATCTCGTGCGGGACA	0.368000													9	25					0	0	0.008291	0	0
CCDC178	374864	broad.mit.edu	37	18	30928858	30928858	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:30928858C>T	ENST00000383096.3	-	8	635	c.453G>A	c.(451-453)aaG>aaA	p.K151K	CCDC178_ENST00000403303.1_Silent_p.K151K|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Silent_p.K151K|CCDC178_ENST00000402325.1_Silent_p.K151K|CCDC178_ENST00000406524.2_Silent_p.K151K|CCDC178_ENST00000583930.1_Silent_p.K151K|CCDC178_ENST00000579947.1_Silent_p.K151K					coiled-coil domain containing 178																		CTTTACCTCTCTTTTCTCCTG	0.333000													11	19					0	0	0.013537	0	0
OR4M2	390538	broad.mit.edu	37	15	22368629	22368629	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:22368629C>T	ENST00000332663.2	+	1	152	c.54C>T	c.(52-54)tcC>tcT	p.S18S	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	18					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)		CTGGCCTATCCCAGACTCCAG	0.353000													35	67					0	0	0.004878	0	0
TRANK1	9881	broad.mit.edu	37	3	36898105	36898105	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:36898105C>T	ENST00000429976.2	-	12	3223	c.2976G>A	c.(2974-2976)atG>atA	p.M992I	TRANK1_ENST00000428977.2_Missense_Mutation_p.M442I|TRANK1_ENST00000301807.6_Missense_Mutation_p.M442I			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	992					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.M442I(2)|p.M992I(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGTTAAAGGCCATGTTGGTGC	0.537000													58	142					0	0	0.014410	0	0
OR10K2	391107	broad.mit.edu	37	1	158389728	158389728	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158389728G>A	ENST00000314902.2	-	1	928	c.929C>T	c.(928-930)tCc>tTc	p.S310F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S310F(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TTACAACAGGGAAATTGTTCT	0.388000													5	26					0	0	0.000602	0	0
LMOD1	25802	broad.mit.edu	37	1	201869306	201869306	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:201869306C>T	ENST00000367288.4	-	2	1081	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K		NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	279	8 X approximate tandem repeats.				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GCTTCCTTTTCATGTAAGGGT	0.493000													12	23					0	0	0.002450	0	0
APOB	338	broad.mit.edu	37	2	21245816	21245816	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:21245816C>T	ENST00000233242.1	-	18	2830	c.2703G>A	c.(2701-2703)atG>atA	p.M901I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	901					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGTTGGTGTTCATCTGGACCC	0.512000													142	236					0	0	0.014410	0	0
TULP2	7288	broad.mit.edu	37	19	49398325	49398325	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:49398325G>A	ENST00000221399.3	-	6	588	c.444C>T	c.(442-444)tcC>tcT	p.S148S		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	148					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GGGGAGAGACGGAACCATTCT	0.532000													20	32					0	0	0.008871	0	0
ASH1L	55870	broad.mit.edu	37	1	155448167	155448167	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:155448167G>A	ENST00000368346.3	-	3	5133	c.4494C>T	c.(4492-4494)ccC>ccT	p.P1498P	ASH1L_ENST00000392403.3_Silent_p.P1498P			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1498					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TAGAAACCTGGGGTTGTTCAG	0.493000													24	52					0	0	0.002780	0	0
HDC	3067	broad.mit.edu	37	15	50545818	50545818	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:50545818G>A	ENST00000267845.3	-	7	1168	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L	HDC_ENST00000543581.1_Silent_p.L256L	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	256					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.L256L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	AGCTCTGACAGGCAGTCAAAT	0.488000													6	46					0	0	0.003080	0	0
BCR	613	broad.mit.edu	37	22	23603604	23603604	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:23603604C>T	ENST00000305877.8	+	4	2380	c.1629C>T	c.(1627-1629)atC>atT	p.I543I	BCR_ENST00000359540.3_Silent_p.I543I	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	543	DH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						GTCAGCAGATCGAGACCATCT	0.587000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								46	90					0	0	0.013114	0	0
ASTN2	23245	broad.mit.edu	37	9	119739047	119739047	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:119739047C>T	ENST00000313400.4	-	8	1709	c.1609G>A	c.(1609-1611)Gaa>Aaa	p.E537K	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.E537K|ASTN2_ENST00000361209.2_Missense_Mutation_p.E486K			O75129	ASTN2_HUMAN	astrotactin 2	537	EGF-like 1.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCATAGCCTTCATGACAGCTG	0.483000													23	13					0	0	0.004656	0	0
CA1	759	broad.mit.edu	37	8	86249251	86249251	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:86249251G>A	ENST00000523953.1	-	5	1323	c.277C>T	c.(277-279)Cag>Tag	p.Q93*	CA1_ENST00000432364.2_Nonsense_Mutation_p.Q93*|CA1_ENST00000522389.1_Intron|CA1_ENST00000256119.5_Nonsense_Mutation_p.Q93*|CA1_ENST00000523022.1_Nonsense_Mutation_p.Q93*|CA1_ENST00000542576.1_Nonsense_Mutation_p.Q93*|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000431316.1_Nonsense_Mutation_p.Q93*			P00915	CAH1_HUMAN	carbonic anhydrase I	93					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	AAATGGAACTGAAAGAGCCTG	0.433000													25	44					0	0	0.003954	0	0
OR51S1	119692	broad.mit.edu	37	11	4869580	4869580	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:4869580G>A	ENST00000322101.2	-	1	934	c.859C>T	c.(859-861)Cat>Tat	p.H287Y	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGAAGGAAATGGACATAGGAT	0.448000													14	54					0	0	0.004990	0	0
IL5RA	3568	broad.mit.edu	37	3	3146588	3146588	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:3146588C>T	ENST00000446632.2	-	3	655	c.82_splice	c.e3+1	p.K27_splice	IL5RA_ENST00000456302.1_Splice_Site_p.K27_splice|IL5RA_ENST00000430514.2_Splice_Site_p.K27_splice|IL5RA_ENST00000418488.2_Splice_Site_p.K27_splice|IL5RA_ENST00000383846.1_Splice_Site_p.K27_splice|IL5RA_ENST00000311981.8_Splice_Site_p.K27_splice|IL5RA_ENST00000256452.3_Splice_Site_p.K27_splice|IL5RA_ENST00000445864.2_Splice_Site_p.K27_splice|IL5RA_ENST00000438560.1_Splice_Site_p.K27_splice	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	27					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GGTCCTTACTCTTTTCATCAG	0.338000													7	36					0	0	0.001984	0	0
RORB	6096	broad.mit.edu	37	9	77257730	77257730	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:77257730C>T	ENST00000376896.2	+	4	1248	c.637_splice	c.e4+1	p.I212_splice	RORB_ENST00000396204.2_Splice_Site_p.I223_splice	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	223	Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TGACTGAAATCGGTAAGTGGA	0.388000													19	29					0	0	0.010504	0	0
GPR31	2853	broad.mit.edu	37	6	167570663	167570663	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:167570663C>T	ENST00000366834.1	-	1	1154	c.657G>A	c.(655-657)cgG>cgA	p.R219R		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	219						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		GTGCCTGGGCCCGCTGAAGCT	0.572000													8	51					0	0	0.003080	0	0
NUP205	23165	broad.mit.edu	37	7	135301894	135301894	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:135301894G>A	ENST00000285968.6	+	26	3615	c.3589G>A	c.(3589-3591)Gag>Aag	p.E1197K		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1197					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GGAGATCCCTGAGCCTTTGCA	0.368000													7	32					0	0	0.001984	0	0
DKKL1	27120	broad.mit.edu	37	19	49878092	49878092	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:49878092C>T	ENST00000221498.2	+	5	941	c.536C>T	c.(535-537)tCc>tTc	p.S179F	DKKL1_ENST00000594268.1_Missense_Mutation_p.S37F|AC010524.2_ENST00000599433.1_RNA	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	179					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		CGGCGGAGGTCCCACCAGGAT	0.652000													14	18					0	0	0.004007	0	0
KCNT2	343450	broad.mit.edu	37	1	196197413	196197413	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:196197413G>A	ENST00000367433.5	-	27	3378	c.3277C>T	c.(3277-3279)Cga>Tga	p.R1093*	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Nonsense_Mutation_p.R1117*|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.R1051*			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1117						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						CTGTTTCTTCGACTGGGCTCA	0.368000													8	35					0	0	0.008291	0	0
SFXN4	119559	broad.mit.edu	37	10	120919252	120919252	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:120919252G>A	ENST00000355697.2	-	6	367	c.348C>T	c.(346-348)ttC>ttT	p.F116F	SFXN4_ENST00000330036.6_Silent_p.F107F|SFXN4_ENST00000461438.1_5'UTR	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	116					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		TGGGTGCCATGAAAGGCAGGA	0.587000													8	28					0	0	0.006214	0	0
EHD1	10938	broad.mit.edu	37	11	64627465	64627465	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:64627465G>A	ENST00000320631.3	-	3	1100	c.846C>T	c.(844-846)atC>atT	p.I282I	EHD1_ENST00000359393.2_Silent_p.I282I	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	282					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						GCAGTGACTGGATGTCCTTGA	0.617000													9	44					0	0	0.006214	0	0
KDM1B	221656	broad.mit.edu	37	6	18171642	18171642	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:18171642G>A	ENST00000388870.2	+	7	707	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000297792.5_Missense_Mutation_p.E156K|KDM1B_ENST00000397244.1_Missense_Mutation_p.E156K			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	156					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	p.E156K(1)		breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GCTTACCAAGGAAATCCAGCT	0.388000													12	28					0	0	0.013537	0	0
NUAK2	81788	broad.mit.edu	37	1	205273195	205273195	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:205273195C>T	ENST00000367157.3	-	7	1396	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	424					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGAGGGTCCTCCTGTACCCCT	0.627000													30	44					0	0	0.010818	0	0
CDH7	1005	broad.mit.edu	37	18	63492003	63492003	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:63492003G>A	ENST00000536984.2	+	6	1611	c.917G>A	c.(916-918)gGt>gAt	p.G306D	CDH7_ENST00000323011.3_Missense_Mutation_p.G306D|CDH7_ENST00000397968.2_Missense_Mutation_p.G306D			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	306	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GATGGTGATGGTTTGGGCATT	0.368000													17	36					0	0	0.007413	0	0
ABCA13	154664	broad.mit.edu	37	7	48317803	48317803	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:48317803C>T	ENST00000435803.1	+	18	7036	c.7012C>T	c.(7012-7014)Cac>Tac	p.H2338Y		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2338					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GACTATATATCACCTAATGAA	0.294000													5	18					0	0	0.000602	0	0
NMNAT2	23057	broad.mit.edu	37	1	183262847	183262847	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:183262847C>T	ENST00000287713.6	-	2	501	c.167G>A	c.(166-168)gGa>gAa	p.G56E	NMNAT2_ENST00000294868.4_Missense_Mutation_p.G51E	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	56					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	p.G56E(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						CACCTGTTTTCCATAGGAGTC	0.522000													15	59					0	0	0.004007	0	0
PCSK9	255738	broad.mit.edu	37	1	55521827	55521827	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:55521827G>A	ENST00000302118.5	+	6	1251	c.961G>A	c.(961-963)Gat>Aat	p.D321N	PCSK9_ENST00000543384.1_Missense_Mutation_p.D121N|PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	321	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CTTCCGGGACGATGCCTGCCT	0.746000													22	113					0	0	0.003330	0	0
OR11L1	391189	broad.mit.edu	37	1	248004859	248004859	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248004859G>A	ENST00000355784.2	-	1	395	c.340C>T	c.(340-342)Ctc>Ttc	p.L114F		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AAGGCCAGGAGAAAGCACTCG	0.597000													4	13					0	0	0.001168	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274276	103274276	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:103274276C>T	ENST00000233969.2	+	2	685	c.543C>T	c.(541-543)tcC>tcT	p.S181S		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	181						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTTGGAATTCCATTGGCATTG	0.498000													82	115					0	0	0.014410	0	0
KIF21B	23046	broad.mit.edu	37	1	200950134	200950134	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:200950134G>A	ENST00000332129.2	-	28	4210	c.3894C>T	c.(3892-3894)atC>atT	p.I1298I	KIF21B_ENST00000360529.5_Silent_p.I1298I|KIF21B_ENST00000422435.2_Silent_p.I1311I|KIF21B_ENST00000461742.2_Silent_p.I1311I	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1311					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCAGGCAGAGGATGGGCTTGG	0.612000													17	41					0	0	0.007413	0	0
IGSF10	285313	broad.mit.edu	37	3	151176435	151176435	+	Silent	SNP	G	G	A	rs141824930		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:151176435G>A	ENST00000282466.3	-	1	62	c.63C>T	c.(61-63)gtC>gtT	p.V21V		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	21					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGGGGTGGCGACCAGGCAGA	0.527000													13	37					0	0	0.004007	0	0
UBE4A	9354	broad.mit.edu	37	11	118243308	118243308	+	Silent	SNP	C	C	T	rs149631434	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:118243308C>T	ENST00000252108.3	+	6	779	c.648C>T	c.(646-648)acC>acT	p.T216T	UBE4A_ENST00000431736.2_Silent_p.T216T	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	216					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTCTTCTCACCCCAGAGATCT	0.468000													5	47					0	0	0.000602	0	0
MARK2	2011	broad.mit.edu	37	11	63676485	63676485	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:63676485C>T	ENST00000402010.2	+	19	2722	c.2143C>T	c.(2143-2145)Cgc>Tgc	p.R715C	MARK2_ENST00000377809.4_Missense_Mutation_p.R700C|MARK2_ENST00000508192.1_Missense_Mutation_p.R651C|MARK2_ENST00000408948.3_Missense_Mutation_p.R618C|MARK2_ENST00000315032.8_Missense_Mutation_p.R706C|MARK2_ENST00000413835.2_Missense_Mutation_p.R661C|MARK2_ENST00000377810.3_Missense_Mutation_p.R618C|MARK2_ENST00000513765.2_Missense_Mutation_p.R682C|MARK2_ENST00000350490.7_Missense_Mutation_p.R636C|MARK2_ENST00000509502.2_Missense_Mutation_p.R672C|MARK2_ENST00000425897.2_Missense_Mutation_p.R626C|MARK2_ENST00000361128.5_Missense_Mutation_p.R646C|MARK2_ENST00000502399.3_Missense_Mutation_p.R705C	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	715					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GCGGGAGATCCGCAAGGTGCT	0.607000													11	14					0	0	0.008291	0	0
FUT3	2525	broad.mit.edu	37	19	5844471	5844471	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:5844471G>A	ENST00000303225.6	-	3	1014	c.380C>T	c.(379-381)cCg>cTg	p.P127L	FUT3_ENST00000589620.1_Missense_Mutation_p.P127L|FUT3_ENST00000589918.1_Missense_Mutation_p.P127L|FUT3_ENST00000458379.2_Missense_Mutation_p.P127L	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	127					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CTGCCCCTGCGGCCTCGGGGA	0.597000													29	55					0	0	0.007291	0	0
CHRM2	1129	broad.mit.edu	37	7	136700504	136700504	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:136700504G>A	ENST00000445907.2	+	3	1420	c.892G>A	c.(892-894)Gat>Aat	p.D298N	AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.D298N|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.D298N|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.D298N|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.D298N|CHRM2_ENST00000453373.1_Missense_Mutation_p.D298N|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000593789.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	298					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TAATATGAGAGATGATGAAAT	0.478000													27	36					0	0	0.005443	0	0
PAPPA2	60676	broad.mit.edu	37	1	176640163	176640163	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:176640163C>T	ENST00000367662.3	+	4	3213	c.2049C>T	c.(2047-2049)ttC>ttT	p.F683F	PAPPA2_ENST00000367661.3_Silent_p.F683F	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	683	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTACTCACTTCCTCAACATCT	0.512000													39	174					0	0	0.006999	0	0
ZFP57	346171	broad.mit.edu	37	6	29640868	29640868	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:29640868C>T	ENST00000376883.1	-	6	1371	c.960G>A	c.(958-960)atG>atA	p.M320I	ZFP57_ENST00000488757.1_Missense_Mutation_p.M340I|ZFP57_ENST00000376881.3_Missense_Mutation_p.M320I			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	256					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GGTTCTGGGCCATAGGACCCT	0.557000													46	96					0	0	0.014410	0	0
KIAA1549	57670	broad.mit.edu	37	7	138591789	138591789	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:138591789G>A	ENST00000440172.1	-	6	3384	c.3336C>T	c.(3334-3336)atC>atT	p.I1112I	KIAA1549_ENST00000242365.4_Silent_p.I1062I|KIAA1549_ENST00000422774.1_Silent_p.I1112I	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1112						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCGCAAAGATGATATTCACCG	0.438000			O	BRAF	pilocytic astrocytoma								9	23					0	0	0.008291	0	0
MAS1	4142	broad.mit.edu	37	6	160328631	160328631	+	Missense_Mutation	SNP	G	G	A	rs147542691		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:160328631G>A	ENST00000252660.4	+	1	658	c.644G>A	c.(643-645)cGg>cAg	p.R215Q		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 oncogene	215					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		GTGAAGATCCGGAAGAACACG	0.493000													16	36					0	0	0.003163	0	0
HYDIN	54768	broad.mit.edu	37	16	70908764	70908764	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:70908764G>A	ENST00000393567.2	-	63	10766	c.10616C>T	c.(10615-10617)aCc>aTc	p.T3539I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3539										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GATATACGCGGTGGTGGGCCT	0.502000													7	11					0	0	0.003080	0	0
MTMR11	10903	broad.mit.edu	37	1	149901597	149901597	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:149901597G>A	ENST00000439741.2	-	16	2109	c.1859C>T	c.(1858-1860)cCa>cTa	p.P620L	MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.P548L|MTMR11_ENST00000406732.3_3'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	620	Myotubularin phosphatase.						phosphatase activity	p.P620L(1)|p.P548L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CAGCAGCCCTGGAGGTAAAGG	0.587000													26	76					0	0	0.003954	0	0
MROH9	80133	broad.mit.edu	37	1	170952613	170952613	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:170952613C>T	ENST00000367759.4	+	9	821	c.667C>T	c.(667-669)Cct>Tct	p.P223S	MROH9_ENST00000367758.3_Missense_Mutation_p.P223S	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		CCTCCAGTTTCCTTCTTCTGA	0.373000													9	26					0	0	0.013537	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128864230	128864230	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:128864230G>A	ENST00000274487.4	+	6	1315	c.1170G>A	c.(1168-1170)ggG>ggA	p.G390G	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	390	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G390G(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TATATATTGGGCATCATGGAG	0.353000													7	27					0	0	0.008291	0	0
UBR3	130507	broad.mit.edu	37	2	170917834	170917834	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:170917834C>T	ENST00000272793.5	+	35	4950	c.4900C>T	c.(4900-4902)Cct>Tct	p.P1634S	UBR3_ENST00000392631.1_Missense_Mutation_p.P455S|UBR3_ENST00000418381.1_Missense_Mutation_p.P1634S			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1634					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TTAGGTTAACCCTATTGCTTG	0.338000													27	77					0	0	0.007291	0	0
MGAM	8972	broad.mit.edu	37	7	141796206	141796206	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:141796206C>T	ENST00000475668.2	+	65	7737	c.7683C>T	c.(7681-7683)gtC>gtT	p.V2561V	MGAM_ENST00000549489.2_Silent_p.V1665V			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1665					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCAGCCCTGTCCTGGAGCGTG	0.597000													13	27					0	0	0.003163	0	0
IGHV3-72	28410	broad.mit.edu	37	14	107199206	107199206	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:107199206C>T	ENST00000433072.2	-	0	162																											GACCAAGCCTCCCCCAGACTC	0.582000													22	33					0	0	0.014323	0	0
MEGF8	1954	broad.mit.edu	37	19	42838218	42838218	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:42838218C>T	ENST00000334370.4	+	3	1046	c.411C>T	c.(409-411)ttC>ttT	p.F137F	MEGF8_ENST00000251268.6_Silent_p.F137F	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	137	CUB 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACGCCTCATTCCGCTTCTCCC	0.662000													9	22					0	0	0.006214	0	0
ARSD	414	broad.mit.edu	37	X	2827940	2827940	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:2827940G>C	ENST00000381154.1	-	8	1291	c.1216C>G	c.(1216-1218)Cga>Gga	p.R406G		NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	406						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCAATCACTCGGCCGGCCGGG	0.637000													9	17					0	0	0.006214	0	0
LOC440040	440040	broad.mit.edu	37	11	49597803	49597803	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:49597803C>T	ENST00000527477.1	+	0	407																											CTAAAACGGTCCTTCTGTTGA	0.493000													9	14					0	0	0.004482	0	0
LRRC73	221424	broad.mit.edu	37	6	43475013	43475013	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:43475013C>T	ENST00000372441.1	-	6	1814	c.914G>A	c.(913-915)gGa>gAa	p.G305E		NM_001012974.1	NP_001012992.1	Q5JTD7	CF154_HUMAN	leucine rich repeat containing 73	305																	GTCCCCTAGTCCTGACGTCAT	0.537000											OREG0017453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	28					0	0	0.004482	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101576466	101576466	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:101576466C>T	ENST00000310954.6	-	11	2118	c.1832G>A	c.(1831-1833)cGg>cAg	p.R611Q		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	611					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.R611L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GGCTAGGGACCGTTGTCTGTG	0.338000													24	104					0	0	0.007291	0	0
AGTR1	185	broad.mit.edu	37	3	148459740	148459740	+	Silent	SNP	G	G	A	rs1064535		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:148459740G>A	ENST00000542281.1	+	4	1364	c.918G>A	c.(916-918)ggG>ggA	p.G306G	AGTR1_ENST00000461609.1_Silent_p.G306G|AGTR1_ENST00000474935.1_Silent_p.G306G|AGTR1_ENST00000475347.1_Silent_p.G306G|AGTR1_ENST00000349243.3_Silent_p.G306G|AGTR1_ENST00000402260.1_Silent_p.G306G|AGTR1_ENST00000418473.2_Silent_p.G306G|AGTR1_ENST00000404754.2_Silent_p.G306G|AGTR1_ENST00000497524.1_Silent_p.G306G	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	306					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GCTTTCTGGGGAAAAAATTTA	0.368000													24	16					0	0	0.014323	0	0
SAGE1	55511	broad.mit.edu	37	X	134990652	134990652	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:134990652C>T	ENST00000535938.1	+	12	1484	c.1317C>T	c.(1315-1317)caC>caT	p.H439H	SAGE1_ENST00000324447.3_Silent_p.H439H|SAGE1_ENST00000370709.3_Silent_p.H439H|SAGE1_ENST00000537770.1_Intron	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	439										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CCGTCAATCACCATGTCCATG	0.418000													36	16					0	0	0.004289	0	0
PAPPA2	60676	broad.mit.edu	37	1	176709131	176709131	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:176709131C>T	ENST00000367662.3	+	14	5114	c.3950C>T	c.(3949-3951)tCa>tTa	p.S1317L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1317					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TATGGACTGTCATGCCAGCAT	0.408000													28	74					0	0	0.013726	0	0
PRMT7	54496	broad.mit.edu	37	16	68382290	68382290	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:68382290A>C	ENST00000339507.5	+	14	2199	c.1369A>C	c.(1369-1371)Aaa>Caa	p.K457Q	PRMT7_ENST00000348497.4_Intron|PRMT7_ENST00000449359.3_Missense_Mutation_p.K407Q|PRMT7_ENST00000441236.1_Missense_Mutation_p.K407Q			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	457					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CATCATAGAGAAACGGCCGGA	0.428000													5	68					0	0	0.003080	0	0
SULF1	23213	broad.mit.edu	37	8	70501327	70501327	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:70501327G>T	ENST00000260128.4	+	8	1402	c.685G>T	c.(685-687)Gac>Tac	p.D229Y	SULF1_ENST00000419716.3_Missense_Mutation_p.D229Y|SULF1_ENST00000402687.4_Missense_Mutation_p.D229Y|SULF1_ENST00000458141.2_Missense_Mutation_p.D229Y	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	229					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CGGCCCCGAGGACTCAGCCCC	0.493000													7	22					0.000157383	0.000170414	0.003080	1	0
NAP1L3	4675	broad.mit.edu	37	X	92927223	92927223	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:92927223G>A	ENST00000373079.3	-	1	1344	c.1081C>T	c.(1081-1083)Cat>Tat	p.H361Y	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	361					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GGTAGAAAATGAAATTCAAAG	0.403000													20	6					0	0	0.010504	0	0
STAB1	23166	broad.mit.edu	37	3	52554946	52554946	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:52554946G>A	ENST00000321725.6	+	55	5909	c.5833G>A	c.(5833-5835)Ggc>Agc	p.G1945S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1945					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCTGGGCAGGGGCTGCCACCG	0.617000													22	31					0	0	0.010504	0	0
COL5A1	1289	broad.mit.edu	37	9	137619121	137619121	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:137619121C>T	ENST00000371817.3	+	5	1078	c.664C>T	c.(664-666)Cag>Tag	p.Q222*		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	222	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGTGACATCCAGCAGCTGCT	0.567000													19	85					0	0	0.014323	0	0
SLC38A3	10991	broad.mit.edu	37	3	50253047	50253047	+	RNA	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:50253047A>C	ENST00000420502.1	+	0	598							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	AGCCCTGGCCATCACGCTCCA	0.632000													12	44					0	0	0.004007	0	0
LEFTY1	10637	broad.mit.edu	37	1	226075716	226075716	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:226075716G>A	ENST00000432920.2	-	6	759	c.592C>T	c.(592-594)Cct>Tct	p.P198S	LEFTY1_ENST00000272134.5_Silent_p.F89F|LEFTY1_ENST00000492457.1_5'UTR																							CCAACGCCAGGAACCTGCCGG	0.692000													7	36					0	0	0.008291	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62887172	62887172	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:62887172T>A	ENST00000281156.4	-	2	415	c.137A>T	c.(136-138)gAa>gTa	p.E46V		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		ATACTTCTTTTCTTCGTCTTC	0.333000													11	18					0	0	0.010729	0	0
LOC286238	286238	broad.mit.edu	37	9	91262491	91262491	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:91262491C>T	ENST00000418343.2	-	0	260																											GAACACATTTCCAGGTCTCAG	0.398000													7	76					0	0	0.008291	0	0
SETBP1	26040	broad.mit.edu	37	18	42281671	42281671	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:42281671G>A	ENST00000282030.5	+	2	656	c.360G>A	c.(358-360)ttG>ttA	p.L120L	SETBP1_ENST00000426838.4_Silent_p.L120L	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	120						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CAAAGAATTTGGAGAACTATA	0.463000									Schinzel-Giedion syndrome				11	29					0	0	0.010729	0	0
CCL21	6366	broad.mit.edu	37	9	34709522	34709522	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:34709522C>T	ENST00000259607.2	-	3	403	c.346G>A	c.(346-348)Gga>Aga	p.G116R	CCL21_ENST00000378792.1_Missense_Mutation_p.G116R	NM_002989.2	NP_002980.1	O00585	CCL21_HUMAN	chemokine (C-C motif) ligand 21	116	C-terminal basic extension.				activation of Rho GTPase activity|cell maturation|cell-cell signaling|dendritic cell chemotaxis|dendritic cell dendrite assembly|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|mesangial cell-matrix adhesion|negative regulation of leukocyte apoptosis|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of cell-matrix adhesion|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of filopodium assembly|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of myeloid dendritic cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of pseudopodium assembly|positive regulation of receptor-mediated endocytosis|release of sequestered calcium ion into cytosol|response to prostaglandin E stimulus|ruffle organization|T cell costimulation	extracellular space	CCR7 chemokine receptor binding|chemokine activity			large_intestine(4)	4	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GAGCCCTTTCCTTTCTTGCCA	0.597000													29	42					0	0	0.003755	0	0
NRP2	8828	broad.mit.edu	37	2	206608235	206608235	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:206608235G>A	ENST00000360409.3	+	9	2391	c.1600G>A	c.(1600-1602)Gac>Aac	p.D534N	NRP2_ENST00000355117.4_Missense_Mutation_p.D534N|NRP2_ENST00000357118.4_Missense_Mutation_p.D534N|NRP2_ENST00000417189.1_Missense_Mutation_p.D534N|NRP2_ENST00000540841.1_Missense_Mutation_p.D534N|NRP2_ENST00000272849.3_Missense_Mutation_p.D534N|NRP2_ENST00000357785.5_Missense_Mutation_p.D534N|NRP2_ENST00000540178.1_Missense_Mutation_p.D534N|NRP2_ENST00000412873.2_Missense_Mutation_p.D534N	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	534	F5/8 type C 2.				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						AAACGGCAAGGACTGGGAATA	0.542000													20	25					0	0	0.008871	0	0
RBL2	5934	broad.mit.edu	37	16	53476717	53476717	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:53476717C>T	ENST00000262133.6	+	3	656	c.519C>T	c.(517-519)atC>atT	p.I173I		NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	173					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTCAGGACATCTTTAAATACC	0.413000													65	127					0	0	0.014410	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693180	187693180	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:187693180G>A	ENST00000295131.2	-	9	1472	c.1433C>T	c.(1432-1434)tCa>tTa	p.S478L		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	478					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TTTTGAATTTGAATTATCTAA	0.303000													11	27					0	0	0.010729	0	0
TTN	7273	broad.mit.edu	37	2	179612720	179612720	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179612720C>T	ENST00000360870.5	-	46	14629	c.14407G>A	c.(14407-14409)Gaa>Aaa	p.E4803K	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	913	Ig-like 28.						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)			TCTGTATATTCCTGTGTCCCA	0.483000													14	21					0	0	0.002450	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179318397	179318397	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:179318397G>A	ENST00000356834.3	-	6	1063	c.1026C>T	c.(1024-1026)ctC>ctT	p.L342L	TBC1D9B_ENST00000355235.3_Silent_p.L342L	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	342	GRAM 2.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGGTATGATGAGGTGGCAAG	0.597000													11	45					0	0	0.010729	0	0
GLRA3	8001	broad.mit.edu	37	4	175598361	175598361	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:175598361G>A	ENST00000274093.3	-	7	1297	c.795C>T	c.(793-795)ctC>ctT	p.L265L	GLRA3_ENST00000340217.5_Silent_p.L265L	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	265					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)	TAACAATCAGGAGACTGGGAA	0.458000													9	11					0	0	0.004482	0	0
CRYBG3	131544	broad.mit.edu	37	3	97596413	97596413	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:97596413C>T	ENST00000182096.4	+	1	595	c.531C>T	c.(529-531)tcC>tcT	p.S177S		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						CTGTTTTATCCCTTCTCCAGT	0.468000													19	44					0	0	0.007413	0	0
BCHE	590	broad.mit.edu	37	3	165547537	165547537	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:165547537G>A	ENST00000264381.3	-	2	1451	c.1285C>T	c.(1285-1287)Cct>Tct	p.P429S	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	429					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TCCAAGGCAGGGCATATGAAA	0.433000													31	41					0	0	0.007291	0	0
NEDD4L	23327	broad.mit.edu	37	18	56056398	56056398	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:56056398C>T	ENST00000456986.1	+	28	2866	c.2266C>T	c.(2266-2268)Cac>Tac	p.H756Y	NEDD4L_ENST00000586263.1_Missense_Mutation_p.H849Y|NEDD4L_ENST00000456173.2_Missense_Mutation_p.H736Y|NEDD4L_ENST00000356462.6_Missense_Mutation_p.H813Y|NEDD4L_ENST00000256832.7_Missense_Mutation_p.H737Y|NEDD4L_ENST00000256830.9_Missense_Mutation_p.H773Y|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000400345.3_Missense_Mutation_p.H877Y|NEDD4L_ENST00000357895.5_Missense_Mutation_p.H869Y|NEDD4L_ENST00000435432.2_Missense_Mutation_p.H736Y|NEDD4L_ENST00000431212.2_Missense_Mutation_p.H756Y|NEDD4L_ENST00000382850.4_Missense_Mutation_p.H857Y	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	877	HECT.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CTGCCCAAACCACCCCGTCAT	0.552000													8	12					0	0	0.003080	0	0
STAC	6769	broad.mit.edu	37	3	36545914	36545914	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:36545914G>A	ENST00000273183.3	+	7	1096	c.796G>A	c.(796-798)Gat>Aat	p.D266N	STAC_ENST00000457375.2_Missense_Mutation_p.D205N|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	266					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						TGGCACTGATGATTTCAGAGA	0.403000													17	24					0	0	0.012319	0	0
NUDCD1	84955	broad.mit.edu	37	8	110255462	110255462	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:110255462G>A	ENST00000239690.4	-	10	1902	c.1528C>T	c.(1528-1530)Ctt>Ttt	p.L510F	NUDCD1_ENST00000427660.2_Missense_Mutation_p.L481F	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	510										breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CACTCACAAAGGGCTGCATAC	0.438000													43	127					0	0	0.007835	0	0
DNER	92737	broad.mit.edu	37	2	230312072	230312072	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:230312072G>A	ENST00000341772.4	-	8	1580	c.1446C>T	c.(1444-1446)tgC>tgT	p.C482C		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	482	EGF-like 7.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CCACGCTGCGGCACGTGCCAT	0.562000													3	16					0	0	0.000602	0	0
CD93	22918	broad.mit.edu	37	20	23064991	23064991	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:23064991C>T	ENST00000246006.4	-	1	1986	c.1839G>A	c.(1837-1839)agG>agA	p.R613R		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	613					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCTTCTCCTCCCTCTTCGCTC	0.567000													31	102					0	0	0.012213	0	0
INMT-FAM188B	100526825	broad.mit.edu	37	7	30793422	30793422	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:30793422C>T	ENST00000458257.1	+	2	241	c.227C>T	c.(226-228)tCc>tTc	p.S76F	INMT_ENST00000013222.5_Missense_Mutation_p.S77F|INMT_ENST00000484180.1_3'UTR|INMT_ENST00000409539.1_Missense_Mutation_p.S76F																							GCCTGTGATTCCTTCCAAGAC	0.567000													107	177					0	0	0.014410	0	0
CDK18	5129	broad.mit.edu	37	1	205494284	205494284	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:205494284G>A	ENST00000360066.2	+	5	718	c.417G>A	c.(415-417)ggG>ggA	p.G139G	CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Silent_p.G139G|CDK18_ENST00000506784.1_Silent_p.G169G	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	137							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						TTGGCTTTGGGAAACTGGAAA	0.547000													9	27					0	0	0.003163	0	0
RIT2	6014	broad.mit.edu	37	18	40695475	40695475	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:40695475C>T	ENST00000589109.1	-	1	181	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	RIT2_ENST00000590910.1_Missense_Mutation_p.E4K|RIT2_ENST00000326695.5_Missense_Mutation_p.E4K|RIT2_ENST00000282028.4_Missense_Mutation_p.E4K	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	4					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	p.E4K(1)		endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTTCATTTTCTACCTCCATC	0.517000													14	58					0	0	0.003163	0	0
TNNT2	7139	broad.mit.edu	37	1	201332529	201332529	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:201332529C>T	ENST00000509001.1	-	11	751	c.465G>A	c.(463-465)gaG>gaA	p.E155E	TNNT2_ENST00000367322.1_Silent_p.E155E|TNNT2_ENST00000367317.4_Silent_p.E155E|TNNT2_ENST00000367318.5_Silent_p.E155E|TNNT2_ENST00000367315.2_Silent_p.E155E|TNNT2_ENST00000458432.2_Silent_p.E167E|TNNT2_ENST00000460780.1_5'UTR|TNNT2_ENST00000367320.2_Silent_p.E125E|TNNT2_ENST00000421663.2_Silent_p.E157E|TNNT2_ENST00000360372.4_Silent_p.E150E|TNNT2_ENST00000236918.7_Silent_p.E160E	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	165					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						GTCGAGCCCTCTCTTCCTGAT	0.507000													45	81					0	0	0.011902	0	0
SYT4	6860	broad.mit.edu	37	18	40850576	40850576	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:40850576C>T	ENST00000255224.3	-	4	1376	c.1008G>A	c.(1006-1008)aaG>aaA	p.K336K	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.K318K	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	336	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TGGAGATTCTCTTTTTGGCAT	0.428000													14	45					0	0	0.002450	0	0
EPHA7	2045	broad.mit.edu	37	6	93979305	93979305	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:93979305C>T	ENST00000369303.4	-	7	1707	c.1523G>A	c.(1522-1524)gGa>gAa	p.G508E		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	508	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATACACTGTTCCTGGTTTCAG	0.393000													24	44					0	0	0.003330	0	0
ASTL	431705	broad.mit.edu	37	2	96789975	96789975	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:96789975G>A	ENST00000342380.2	-	9	909	c.910C>T	c.(910-912)Ccg>Tcg	p.P304S		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	304					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						AGGGAGGCCGGAGCGGGGCTC	0.637000													8	14					0	0	0.004482	0	0
FAM47A	158724	broad.mit.edu	37	X	34149783	34149783	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:34149783C>T	ENST00000346193.3	-	1	664	c.613G>A	c.(613-615)Gag>Aag	p.E205K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	205	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACTCCAGTCTCGGGAGGCTCT	0.627000													22	12					0	0	0.003330	0	0
ADCY8	114	broad.mit.edu	37	8	131792772	131792772	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:131792772C>T	ENST00000286355.5	-	18	5712	c.3620G>A	c.(3619-3621)aGg>aAg	p.R1207K	ADCY8_ENST00000377928.3_Missense_Mutation_p.R1076K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1207					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTGCTTCTGCCTTTGCCTATT	0.557000										HNSCC(32;0.087)			19	55					0	0	0.006122	0	0
DACH1	1602	broad.mit.edu	37	13	72063191	72063191	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:72063191G>A	ENST00000305425.4	-	7	2088	c.1666C>T	c.(1666-1668)Cca>Tca	p.P556S	DACH1_ENST00000354591.4_Missense_Mutation_p.P354S|DACH1_ENST00000359684.2_Missense_Mutation_p.P608S|DACH1_ENST00000313174.7_Missense_Mutation_p.P408S	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	606					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AAAGGAGATGGAAAACCTGGA	0.468000													58	80					0	0	0.014410	0	0
NCR2	9436	broad.mit.edu	37	6	41303840	41303840	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:41303840C>T	ENST00000373083.4	+	2	290	c.68C>T	c.(67-69)tCc>tTc	p.S23F	NCR2_ENST00000373086.3_Missense_Mutation_p.S23F|NCR2_ENST00000373089.5_Missense_Mutation_p.S23F	NM_001199510.1	NP_001186439.1	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	23	Ig-like.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					CAGGCACAATCCAAGGCTCAG	0.577000													13	24					0	0	0.003163	0	0
ELTD1	64123	broad.mit.edu	37	1	79358832	79358832	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:79358832G>A	ENST00000370742.3	-	13	1855	c.1792C>T	c.(1792-1794)Cgt>Tgt	p.R598C		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	598					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.R598C(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GCAGTGTGACGAAAAACTTTG	0.299000													18	24					0	0	0.012319	0	0
COL21A1	81578	broad.mit.edu	37	6	56044907	56044907	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:56044907C>T	ENST00000244728.5	-	3	506	c.109G>A	c.(109-111)Gat>Aat	p.D37N	COL21A1_ENST00000370819.1_Missense_Mutation_p.D37N|COL21A1_ENST00000535941.1_Missense_Mutation_p.D37N	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	37	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AAAACTAAATCTGTCGGAGCA	0.333000													11	18					0	0	0.008291	0	0
TGM3	7053	broad.mit.edu	37	20	2321170	2321170	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:2321170C>T	ENST00000381458.5	+	13	2088	c.2025C>T	c.(2023-2025)ttC>ttT	p.F675F		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	675					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TCGCCGACTTCTCCTGCAACA	0.602000													23	52					0	0	0.014323	0	0
DUS2	54920	broad.mit.edu	37	16	68108047	68108047	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:68108047C>T	ENST00000565263.1	+	13	1415	c.921C>T	c.(919-921)tcC>tcT	p.S307S	DUS2L_ENST00000432752.1_Silent_p.S272S|DUS2L_ENST00000358896.6_Silent_p.S307S	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN		307					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		CCCAGTCTTCCCGGGAAATTT	0.527000													15	23					0	0	0.003163	0	0
TRIM37	4591	broad.mit.edu	37	17	57134354	57134354	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:57134354G>A	ENST00000376149.3	-	13	1524	c.715C>T	c.(715-717)Cga>Tga	p.R239*	TRIM37_ENST00000262294.7_Nonsense_Mutation_p.R361*|TRIM37_ENST00000393066.3_Nonsense_Mutation_p.R361*|TRIM37_ENST00000393065.2_Nonsense_Mutation_p.R327*			O94972	TRI37_HUMAN	tripartite motif containing 37	361						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GCAAATTCTCGAATGATATTT	0.343000									Mulibrey Nanism				22	14					0	0	0.014323	0	0
C10orf129	142827	broad.mit.edu	37	10	96967012	96967012	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:96967012C>T	ENST00000341686.3	+	4	576	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C	C10orf129_ENST00000430183.1_5'UTR|C10orf129_ENST00000394005.3_Missense_Mutation_p.R151C	NM_207321.2	NP_997204.2	Q6P461	ACSM6_HUMAN	chromosome 10 open reading frame 129	151					fatty acid metabolic process	mitochondrion	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CAAGAAAATTCGCTATCAATT	0.458000													7	27					0	0	0.004482	0	0
CDH18	1016	broad.mit.edu	37	5	19571923	19571923	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:19571923T>G	ENST00000507958.1	-	10	2008	c.1018A>C	c.(1018-1020)Aag>Cag	p.K340Q	CDH18_ENST00000382275.1_Missense_Mutation_p.K340Q|CDH18_ENST00000274170.4_Missense_Mutation_p.K340Q|CDH18_ENST00000511273.1_Missense_Mutation_p.K340Q|CDH18_ENST00000506372.1_Missense_Mutation_p.K340Q|CDH18_ENST00000502796.1_Missense_Mutation_p.K340Q			Q13634	CAD18_HUMAN	cadherin 18, type 2	340	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TATGACTTCTTTTTCTCATAG	0.308000													9	21					0	0	0.010729	0	0
PTPRB	5787	broad.mit.edu	37	12	70954499	70954499	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:70954499T>C	ENST00000334414.6	-	17	4428	c.4384A>G	c.(4384-4386)Act>Gct	p.T1462A	PTPRB_ENST00000451516.2_Missense_Mutation_p.T1154A|PTPRB_ENST00000550358.1_Missense_Mutation_p.T1374A|PTPRB_ENST00000551525.1_Missense_Mutation_p.T1461A|PTPRB_ENST00000261266.5_Missense_Mutation_p.T1244A|PTPRB_ENST00000550857.1_Missense_Mutation_p.T1154A|PTPRB_ENST00000538708.1_Missense_Mutation_p.T1154A	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1244	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CCACTGTGAGTTACCACCCAC	0.527000													29	9					0	0	0.012213	0	0
FER1L6	654463	broad.mit.edu	37	8	125015487	125015487	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:125015487C>T	ENST00000522917.1	+	13	1806	c.1600C>T	c.(1600-1602)Cca>Tca	p.P534S	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P534S	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	534						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGACCTCCTTCCACTGCTTCA	0.527000													28	36					0	0	0.005443	0	0
SYCP1	6847	broad.mit.edu	37	1	115420732	115420732	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:115420732C>T	ENST00000369522.3	+	12	1059	c.819C>T	c.(817-819)atC>atT	p.I273I	SYCP1_ENST00000369518.1_Silent_p.I273I	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	273					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTATTGATCCAAATCACTG	0.239000													9	27					0	0	0.004482	0	0
PWWP2A	114825	broad.mit.edu	37	5	159520234	159520234	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:159520234G>A	ENST00000456329.3	-	2	1457	c.1423C>T	c.(1423-1425)Cgt>Tgt	p.R475C	PWWP2A_ENST00000307063.7_Missense_Mutation_p.R475C|PWWP2A_ENST00000523662.1_Missense_Mutation_p.R475C	NM_052927.2	NP_443159.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	475										kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	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)			GGTTTTAAACGAACCCGGGGT	0.458000													10	15					0	0	0.008291	0	0
RRN3	54700	broad.mit.edu	37	16	15168609	15168609	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:15168609G>A	ENST00000198767.6	-	11	1051	c.968C>T	c.(967-969)tCc>tTc	p.S323F	PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000327307.7_Missense_Mutation_p.S290F|RRN3_ENST00000540462.1_Missense_Mutation_p.S141F|RRN3_ENST00000563559.1_Missense_Mutation_p.S323F|RRN3_ENST00000429751.2_Missense_Mutation_p.S293F	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	323					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						CTTCATGTAGGACAAAACCAA	0.478000													6	20					0	0	0.001168	0	0
PHC3	80012	broad.mit.edu	37	3	169896716	169896716	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:169896716G>A	ENST00000495893.1	-	2	56	c.25C>T	c.(25-27)Cat>Tat	p.H9Y	PHC3_ENST00000474275.1_5'UTR|PHC3_ENST00000467570.1_Missense_Mutation_p.H9Y|PHC3_ENST00000497658.1_Missense_Mutation_p.H9Y|PHC3_ENST00000481639.1_Missense_Mutation_p.H9Y|PHC3_ENST00000494943.1_5'UTR	NM_024947.3	NP_079223.3	Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	0					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GCTGTACTATGGTCCTTAAAT	0.413000													47	151					0	0	0.014410	0	0
CALU	813	broad.mit.edu	37	7	128409143	128409143	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:128409143C>T	ENST00000535011.2	+	6	822	c.670C>T	c.(670-672)Cgt>Tgt	p.R224C	CALU_ENST00000249364.4_Silent_p.I290I|CALU_ENST00000538546.1_Silent_p.I139I|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000542996.2_Silent_p.I298I|CALU_ENST00000479257.1_Silent_p.I298I|CALU_ENST00000449187.2_Silent_p.I290I	NM_001199673.1	NP_001186602.1	O43852	CALU_HUMAN	calumenin	0					platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						AGGAGGAGATCGTTGACAAGT	0.423000													16	28					0	0	0.004007	0	0
NCOA5	57727	broad.mit.edu	37	20	44690967	44690967	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:44690967G>A	ENST00000290231.6	-	8	1876	c.1712C>T	c.(1711-1713)cCc>cTc	p.P571L		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	571	Transcription activation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AGATCCCATGGGGGCCTGTGG	0.552000													6	42					0	0	0.003080	0	0
MUC2	4583	broad.mit.edu	37	11	1087466	1087466	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:1087466G>A	ENST00000441003.2	+	24	3244	c.3217G>A	c.(3217-3219)Gag>Aag	p.E1073K	MUC2_ENST00000359061.5_Missense_Mutation_p.E1073K	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1073						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCCCTTCTACGAGGCCTGTGT	0.647000													10	24					0	0	0.001855	0	0
PDZK1	5174	broad.mit.edu	37	1	145747241	145747241	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:145747241A>C	ENST00000344770.2	+	2	271	c.198A>C	c.(196-198)gaA>gaC	p.E66D	PDZK1_ENST00000417171.1_Missense_Mutation_p.E66D|PDZK1_ENST00000451928.2_Missense_Mutation_p.E66D	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	66	PDZ 1.				carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TGGACAAAGAAGAACATATGC	0.478000													21	69					0	0	0.012319	0	0
PLCH1	23007	broad.mit.edu	37	3	155199371	155199371	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:155199371A>G	ENST00000460012.1	-	23	4711	c.4354T>C	c.(4354-4356)Tgc>Cgc	p.C1452R	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Missense_Mutation_p.C1490R|PLCH1_ENST00000414191.1_Missense_Mutation_p.C1452R|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.C1452R			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1490					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTGGATTTGCAAGGACTAGGC	0.463000													21	29					0	0	0.008871	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059648	11059648	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:11059648C>T	ENST00000287766.4	+	4	779	c.358C>T	c.(358-360)Cct>Tct	p.P120S	SLC6A1_ENST00000536032.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	120					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GAAGCTGGCTCCTATGTTCAA	0.602000													44	100					0	0	0.014410	0	0
AK8	158067	broad.mit.edu	37	9	135704092	135704092	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:135704092G>A	ENST00000298545.3	-	6	945	c.424C>T	c.(424-426)Cct>Tct	p.P142S	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	142						cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						CGCGTCTCAGGGATGCCATCC	0.493000													3	17					0	0	0.004672	0	0
XDH	7498	broad.mit.edu	37	2	31596751	31596751	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:31596751G>A	ENST00000379416.3	-	16	1722	c.1674C>T	c.(1672-1674)gtC>gtT	p.V558V		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	558					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GGAAGAGCTGGACATCGGCTG	0.502000													5	19					0	0	0.001168	0	0
AK7	122481	broad.mit.edu	37	14	96949428	96949428	+	Missense_Mutation	SNP	G	G	A	rs115365090	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:96949428G>A	ENST00000267584.4	+	16	1890	c.1846G>A	c.(1846-1848)Gaa>Aaa	p.E616K		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	616	Glu-rich.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TTTAACAGACGAAGAAAAGGC	0.512000													25	44					0	0	0.003954	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24261589	24261589	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:24261589C>T	ENST00000538205.1	+	14	1704	c.1157C>T	c.(1156-1158)cCa>cTa	p.P386L	RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.P465L|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.P386L|RP11-624C23.1_ENST00000519689.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	465	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GGAGATGCTCCAAACCATACC	0.408000													5	33					0	0	0.000602	0	0
TNPO2	30000	broad.mit.edu	37	19	12822379	12822379	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:12822379G>A	ENST00000425528.1	-	11	1296	c.939C>T	c.(937-939)atC>atT	p.I313I	TNPO2_ENST00000450764.2_Silent_p.I313I|TNPO2_ENST00000356861.5_Silent_p.I313I|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000588216.1_Silent_p.I313I|TNPO2_ENST00000441499.1_Silent_p.I313I|TNPO2_ENST00000592287.1_Silent_p.I313I			O14787	TNPO2_HUMAN	transportin 2	313					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGAGCAGGATGATGTCAATTT	0.577000													12	26					0	0	0.010729	0	0
LMO7	4008	broad.mit.edu	37	13	76407271	76407271	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:76407271C>T	ENST00000357063.3	+	17	4450	c.3190C>T	c.(3190-3192)Cct>Tct	p.P1064S	LMO7_ENST00000321797.8_Missense_Mutation_p.P779S|LMO7_ENST00000377534.3_Missense_Mutation_p.P1064S|LMO7_ENST00000341547.4_Missense_Mutation_p.P730S|LMO7_ENST00000465261.2_Missense_Mutation_p.P779S|LMO7_ENST00000526202.1_Missense_Mutation_p.P629S			Q8WWI1	LMO7_HUMAN	LIM domain 7	1064	PDZ.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ATGGGATATTCCTGGGATCTT	0.403000													4	25					0	0	0.001168	0	0
MANBA	4126	broad.mit.edu	37	4	103610769	103610769	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:103610769C>T	ENST00000226578.4	-	7	1021	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	MANBA_ENST00000505239.1_Missense_Mutation_p.E251K	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	308					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		CCATCCAGTTCAAAAAGAACA	0.284000													31	25					0	0	0.004878	0	0
MROH9	80133	broad.mit.edu	37	1	170964595	170964595	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:170964595C>T	ENST00000367759.4	+	13	1414	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	MROH9_ENST00000367758.3_Silent_p.F420F	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		CCCAGTATTTCCCCCAGCTCT	0.468000													29	52					0	0	0.009535	0	0
CDH13	1012	broad.mit.edu	37	16	83065795	83065795	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:83065795G>A	ENST00000566620.1	+	3	628	c.338G>A	c.(337-339)gGg>gAg	p.G113E	CDH13_ENST00000268613.10_Missense_Mutation_p.G160E|CDH13_ENST00000431540.3_Missense_Mutation_p.G113E|CDH13_ENST00000446376.2_Missense_Mutation_p.G113E|CDH13_ENST00000428848.3_Missense_Mutation_p.G113E|CDH13_ENST00000565636.1_Missense_Mutation_p.G113E|CDH13_ENST00000569454.1_3'UTR	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	113			G -> R (in a patient with amyotrophic lateral sclerosis).		adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GTGATTGTCGGGGGGAAAGAC	0.493000													6	18					0	0	0.001984	0	0
P4HA3	283208	broad.mit.edu	37	11	74013577	74013577	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:74013577C>T	ENST00000331597.4	-	3	449	c.404G>A	c.(403-405)gGa>gAa	p.G135E	P4HA3_ENST00000427714.2_Missense_Mutation_p.G135E	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	135						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					CCTTGCTGCTCCCTCAAGGTC	0.517000													25	72					0	0	0.007291	0	0
ZNF284	342909	broad.mit.edu	37	19	44585252	44585252	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:44585252C>T	ENST00000421176.3	+	3	316	c.100C>T	c.(100-102)Cga>Tga	p.R34*	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				GAAGCTGTATCGAGATGTCAT	0.532000													38	69					0	0	0.005524	0	0
OTOL1	131149	broad.mit.edu	37	3	161214915	161214915	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:161214915C>T	ENST00000327928.4	+	1	320	c.320C>T	c.(319-321)cCt>cTt	p.P107L		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	107						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TGTTGTTCACCTGTACCCGGG	0.438000													26	78					0	0	0.004656	0	0
C6orf58	352999	broad.mit.edu	37	6	127898343	127898343	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:127898343C>T	ENST00000329722.7	+	1	25	c.13C>T	c.(13-15)Cct>Tct	p.P5S	C6orf58_ENST00000498112.1_Intron	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	5						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		GGCTTTTCTTCCTTCCTGGGT	0.488000													6	42					0	0	0.001168	0	0
ACSM2A	123876	broad.mit.edu	37	16	20491904	20491904	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:20491904G>A	ENST00000573854.1	+	11	1405	c.1291G>A	c.(1291-1293)Gac>Aac	p.D431N	ACSM2A_ENST00000575690.1_Missense_Mutation_p.D431N|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Missense_Mutation_p.D352N|ACSM2A_ENST00000536134.1_Missense_Mutation_p.D203N|ACSM2A_ENST00000396104.2_Missense_Mutation_p.D431N|ACSM2A_ENST00000219054.6_Missense_Mutation_p.D431N	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	431					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						GGACAATCCCGACAAGACAGC	0.493000													42	59					0	0	0.014410	0	0
SSUH2	51066	broad.mit.edu	37	3	8675454	8675454	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:8675454G>A	ENST00000317371.4	-	11	1396	c.171C>T	c.(169-171)gcC>gcT	p.A57A	SSUH2_ENST00000415132.1_Silent_p.A57A|SSUH2_ENST00000341795.3_Silent_p.A57A|SSUH2_ENST00000544814.1_Silent_p.A79A					ssu-2 homolog (C. elegans)																		GGGCTTCCCGGGCCACCTCCT	0.657000													4	45					0	0	0.009096	0	0
CKM	1158	broad.mit.edu	37	19	45822867	45822867	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:45822867G>A	ENST00000221476.3	-	2	279	c.105C>T	c.(103-105)acC>acT	p.T35T		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	35	Phosphagen kinase N-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	AGAGTTCAAGGGTCAGTACCT	0.522000													37	71					0	0	0.005524	0	0
NLRP14	338323	broad.mit.edu	37	11	7063913	7063913	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:7063913G>A	ENST00000299481.4	+	4	1002	c.656G>A	c.(655-657)aGa>aAa	p.R219K		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	219	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CTCAATGGGAGAGAAATTAAC	0.443000													26	47					0	0	0.003330	0	0
OR2T2	401992	broad.mit.edu	37	1	248616379	248616379	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248616379C>T	ENST00000342927.3	+	1	303	c.281C>T	c.(280-282)tCc>tTc	p.S94F		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAGACCATTTCCTTCCTGGGC	0.522000													36	191					0	0	0.007835	0	0
ANXA10	11199	broad.mit.edu	37	4	169086397	169086397	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:169086397G>A	ENST00000359299.3	+	6	586		c.e6-1			NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10								calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		TTCTTATACAGAATACAGCAA	0.348000													16	8					0	0	0.004990	0	0
DCC	1630	broad.mit.edu	37	18	50278677	50278677	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:50278677C>T	ENST00000442544.2	+	2	961	c.345C>T	c.(343-345)taC>taT	p.Y115Y	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	115	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGGGACTTTACCAATGTGAGG	0.453000													30	69					0	0	0.003755	0	0
CPB1	1360	broad.mit.edu	37	3	148552288	148552288	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:148552288G>A	ENST00000491148.1	+	4	485	c.151G>A	c.(151-153)Gac>Aac	p.D51N	CPB1_ENST00000282957.4_Missense_Mutation_p.D51N			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	51					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TATTCAGATTGACTTCTGGAA	0.363000													9	17					0	0	0.010729	0	0
DEFA6	1671	broad.mit.edu	37	8	6782404	6782404	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:6782404G>A	ENST00000297436.2	-	2	279	c.239C>T	c.(238-240)tCa>tTa	p.S80L		NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	80					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		ATATTCTGTTGAATAACAGGA	0.468000													21	44					0	0	0.003330	0	0
GRAMD2	196996	broad.mit.edu	37	15	72455780	72455780	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:72455780C>T	ENST00000309731.7	-	10	796	c.783G>A	c.(781-783)ggG>ggA	p.G261G	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	261						integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						ATGCCCACCTCCCACCATTTT	0.527000													10	104					0	0	0.001855	0	0
RNF126	55658	broad.mit.edu	37	19	648902	648902	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:648902G>A	ENST00000292363.5	-	7	805	c.650C>T	c.(649-651)cCc>cTc	p.P217L		NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN	ring finger protein 126	217							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CTCAGTGACGGGGACGGTGGG	0.567000													10	26					0	0	0.006214	0	0
ADAM22	53616	broad.mit.edu	37	7	87792332	87792332	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:87792332G>A	ENST00000398204.4	+	23	2236	c.1913G>A	c.(1912-1914)gGg>gAg	p.G638E	ADAM22_ENST00000398201.4_Missense_Mutation_p.G638E|ADAM22_ENST00000315984.7_Missense_Mutation_p.G638E|ADAM22_ENST00000398209.3_Missense_Mutation_p.G638E|ADAM22_ENST00000265727.7_Missense_Mutation_p.G638E	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	638	Cys-rich.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TTTAGTGGTGGGCATGTTAAG	0.383000													17	70					0	0	0.006122	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431463	140431463	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140431463G>A	ENST00000306549.3	+	1	485	c.408G>A	c.(406-408)aaG>aaA	p.K136K		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		136					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTAAACAAGGAGCCGCTTT	0.532000													6	20					0	0	0.001168	0	0
CFHR3	10878	broad.mit.edu	37	1	196762596	196762596	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:196762596C>T	ENST00000367425.4	+	6	1038	c.946C>T	c.(946-948)Caa>Taa	p.Q316*	CFHR3_ENST00000391985.3_Nonsense_Mutation_p.Q255*	NM_021023.5	NP_066303.2			complement factor H-related 3											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						TCTATCATTTCAAGCAGTGTG	0.373000													16	53					0	0	0.007413	0	0
SEC14L5	9717	broad.mit.edu	37	16	5053504	5053504	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:5053504A>C	ENST00000251170.7	+	11	1412	c.1232A>C	c.(1231-1233)aAt>aCt	p.N411T		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	411	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GTTGAGGACAATTACCCAGAG	0.642000													15	62					0	0	0.002450	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128843156	128843156	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:128843156C>T	ENST00000310343.9	-	21	3202	c.3203G>A	c.(3202-3204)gGg>gAg	p.G1068E	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.G719E|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.G719E	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1068					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ATTTGTATACCCAGCCTGAGA	0.478000													12	122					0	0	0.001855	0	0
PHACTR2	9749	broad.mit.edu	37	6	144093564	144093564	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:144093564G>A	ENST00000427704.2	+	7	1499	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K	PHACTR2_ENST00000440869.2_Missense_Mutation_p.E468K|PHACTR2_ENST00000367584.4_Missense_Mutation_p.E445K|PHACTR2_ENST00000305766.6_Missense_Mutation_p.E377K|PHACTR2_ENST00000367582.3_Missense_Mutation_p.E388K	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	457							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TGATGAGGACGAAGACGAAGA	0.483000													8	17					0	0	0.006214	0	0
MTUS2	23281	broad.mit.edu	37	13	29601010	29601010	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:29601010C>T	ENST00000431530.3	+	1	2263	c.2205C>T	c.(2203-2205)ttC>ttT	p.F735F		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	725	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GACATCCTTTCAGTCAAATGA	0.433000													6	36					0	0	0.004482	0	0
VPS13C	54832	broad.mit.edu	37	15	62256067	62256067	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:62256067C>T	ENST00000261517.5	-	32	3371	c.3298G>A	c.(3298-3300)Gaa>Aaa	p.E1100K	VPS13C_ENST00000395898.3_Missense_Mutation_p.E1057K|VPS13C_ENST00000395896.4_Missense_Mutation_p.E1100K|VPS13C_ENST00000249837.3_Missense_Mutation_p.E1057K	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1100					protein localization			p.E1100K(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTGTTCTTTTCGTTGCAAACA	0.348000													12	17					0	0	0.010729	0	0
ADH1B	125	broad.mit.edu	37	4	100239334	100239334	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:100239334G>A	ENST00000305046.8	-	3	195	c.128C>T	c.(127-129)gCt>gTt	p.A43V	ADH1B_ENST00000394887.3_Missense_Mutation_p.A3V|ADH1B_ENST00000504498.1_5'UTR			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	43					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GATTCCTACAGCCACCATCTA	0.438000													32	39					0	0	0.003271	0	0
FLG2	388698	broad.mit.edu	37	1	152326848	152326848	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152326848G>A	ENST00000388718.5	-	3	3486	c.3414C>T	c.(3412-3414)tcC>tcT	p.S1138S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1138	Ser-rich.						calcium ion binding|structural molecule activity	p.S1138S(1)		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)			CAAAGCCAGAGGATTTACCTG	0.532000													63	105					0	0	0.014410	0	0
KRT75	9119	broad.mit.edu	37	12	52827609	52827609	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:52827609G>A	ENST00000252245.5	-	1	700	c.480C>T	c.(478-480)ttC>ttT	p.F160F		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	160	Coil 1A.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TGAAGGAGGCGAACTTATTGT	0.562000													44	51					0	0	0.014410	0	0
ZNF566	84924	broad.mit.edu	37	19	36940123	36940123	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:36940123G>A	ENST00000454319.1	-	5	1150	c.1016C>T	c.(1015-1017)cCt>cTt	p.P339L	ZNF566_ENST00000424129.2_Missense_Mutation_p.P338L|ZNF566_ENST00000434377.2_Missense_Mutation_p.P338L|ZNF566_ENST00000392170.2_Missense_Mutation_p.P339L|ZNF566_ENST00000493391.1_Missense_Mutation_p.P234L	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					ACATTCGTAAGGTTTCTCACC	0.393000													12	31					0	0	0.010729	0	0
ADARB2	105	broad.mit.edu	37	10	1279754	1279754	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:1279754G>A	ENST00000381312.1	-	6	1720	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	465	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TTAACCGCACGAATATCGATC	0.527000													12	22					0	0	0.013537	0	0
VCAN	1462	broad.mit.edu	37	5	82833764	82833764	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:82833764G>T	ENST00000265077.3	+	8	5507	c.4942G>T	c.(4942-4944)Gat>Tat	p.D1648Y	VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.D661Y|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1648	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGCAGAAGAAGATGAAGATAC	0.398000													11	20					3.86212e-05	4.18866e-05	0.008291	1	0
PAPPA2	60676	broad.mit.edu	37	1	176664920	176664920	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:176664920C>T	ENST00000367662.3	+	7	3835	c.2671C>T	c.(2671-2673)Cgt>Tgt	p.R891C		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	891					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGGGACCTTTCGTCAGTATGT	0.532000													19	55					0	0	0.014323	0	0
PSD	5662	broad.mit.edu	37	10	104176737	104176737	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:104176737C>T	ENST00000020673.5	-	2	585	c.59G>A	c.(58-60)cGa>cAa	p.R20Q	PSD_ENST00000406432.1_Missense_Mutation_p.R20Q|PSD_ENST00000492902.2_5'UTR	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	20	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCGTGGGCATCGTGGTGGGGA	0.711000													5	8					0	0	0.000602	0	0
ATP6V1G2-DDX39B	100532737	broad.mit.edu	37	6	31513909	31513909	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:31513909C>T	ENST00000376185.1	-	2	182	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	ATP6V1G2_ENST00000483251.1_Missense_Mutation_p.E13K|ATP6V1G2-DDX39B_ENST00000475917.1_5'UTR|ATP6V1G2_ENST00000303892.5_Missense_Mutation_p.E54K|ATP6V1G2_ENST00000483170.1_5'UTR|ATP6V1G2_ENST00000376151.4_Intron																							CTCTGGAATTCGTGCTCTCGC	0.582000													43	90					0	0	0.014410	0	0
ANKRD24	170961	broad.mit.edu	37	19	4216717	4216717	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:4216717A>C	ENST00000600132.1	+	18	1836	c.1560A>C	c.(1558-1560)agA>agC	p.R520S	ANKRD24_ENST00000262970.5_Missense_Mutation_p.R610S|ANKRD24_ENST00000318934.4_Missense_Mutation_p.R520S	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	520										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		AGGTCCCCAGAGAAGAGGGGG	0.627000													3	6					0	0	0.004672	0	0
IGKV1D-17	28900	broad.mit.edu	37	2	90121860	90121860	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:90121860G>A	ENST00000483379.1	+	0	259																											ACATCCAGATGACCCAGTCTC	0.443000													27	183					0	0	0.009535	0	0
CHST4	10164	broad.mit.edu	37	16	71570864	71570864	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:71570864G>A	ENST00000338482.5	+	3	627	c.284G>A	c.(283-285)cGg>cAg	p.R95Q	CHST4_ENST00000539698.3_Missense_Mutation_p.R95Q|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Missense_Mutation_p.R95Q|RP11-510M2.9_ENST00000572693.1_RNA			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	95					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						ATGGCTGTGCGGGATCTGATA	0.577000													9	35					0	0	0.004482	0	0
KCNQ4	9132	broad.mit.edu	37	1	41303367	41303367	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:41303367G>A	ENST00000347132.5	+	13	1858	c.1776G>A	c.(1774-1776)ggG>ggA	p.G592G	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Silent_p.G538G	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	592	A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			GGGGGCCCGGGGACAGGAAGG	0.627000													8	32					0	0	0.004482	0	0
HTR5A	3361	broad.mit.edu	37	7	154876048	154876048	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:154876048C>T	ENST00000287907.2	+	2	1501	c.925C>T	c.(925-927)Ccc>Tcc	p.P309S	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	309						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GCTCATCAGTCCCCTCTGCTC	0.572000													48	64					0	0	0.014410	0	0
SOS2	6655	broad.mit.edu	37	14	50655308	50655308	+	Silent	SNP	G	G	A	rs147109760	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:50655308G>A	ENST00000216373.5	-	5	895	c.621C>T	c.(619-621)atC>atT	p.I207I	SOS2_ENST00000543680.1_Silent_p.I207I	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	207	DH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTTCTTCTGCGATTTCAGTTC	0.353000													8	24					0	0	0.003080	0	0
MYO18B	84700	broad.mit.edu	37	22	26343750	26343750	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:26343750G>A	ENST00000335473.7	+	36	5954	c.5704G>A	c.(5704-5706)Gac>Aac	p.D1902N	MYO18B_ENST00000536101.1_Missense_Mutation_p.D1902N|MYO18B_ENST00000407587.2_Missense_Mutation_p.D1903N	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1902	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGACCAGGATGACCTGAATGA	0.562000													14	23					0	0	0.004007	0	0
MYLK2	85366	broad.mit.edu	37	20	30408243	30408243	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:30408243C>T	ENST00000375994.2	+	2	640	c.367C>T	c.(367-369)Cct>Tct	p.P123S	MYLK2_ENST00000375985.4_Missense_Mutation_p.P123S			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	123					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CAGCCAGGATCCTGGAAAGCC	0.657000													15	23					0	0	0.004007	0	0
HORMAD2	150280	broad.mit.edu	37	22	30518046	30518046	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:30518046G>A	ENST00000336726.6	+	10	1017	c.662G>A	c.(661-663)gGa>gAa	p.G221E	HORMAD2_ENST00000403975.1_Missense_Mutation_p.G221E	NM_152510.2	NP_689723.1	Q8N7B1	HORM2_HUMAN	HORMA domain containing 2	221	HORMA.				meiosis|mitosis	chromosome|nucleus				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			GTGCAAGTGGGATTTGTCTCC	0.443000													10	11					0	0	0.006214	0	0
FCGBP	8857	broad.mit.edu	37	19	40384098	40384098	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:40384098G>A	ENST00000221347.6	-	21	9519	c.9512C>T	c.(9511-9513)cCt>cTt	p.P3171L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3171	TIL 7.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AAGGGGTGCAGGGGACGGACA	0.632000													38	286					0	0	0.014410	0	0
ZNF727	442319	broad.mit.edu	37	7	63529389	63529389	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:63529389T>G	ENST00000550760.3	+	2	303	c.124T>G	c.(124-126)Tcc>Gcc	p.S42A	RP11-3N2.13_ENST00000445978.1_RNA	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						AAACCTGTTCTCCTTGGGTGA	0.378000													2	2					0	0	0.004672	0	0
SOX7	83595	broad.mit.edu	37	8	10583780	10583780	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:10583780A>T	ENST00000304501.1	-	2	713	c.635T>A	c.(634-636)gTg>gAg	p.V212E	SOX7_ENST00000554914.1_Missense_Mutation_p.V264E|SOX7_ENST00000553390.1_Missense_Mutation_p.V264E	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	212					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		CGGCTCCAGCACGTCCAGGGG	0.701000													11	31					0	0	0.013537	0	0
SLC2A12	154091	broad.mit.edu	37	6	134350794	134350794	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:134350794C>T	ENST00000275230.5	-	2	324	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	57						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		ATCCCAAGTTCATAACCCACC	0.527000													19	50					0	0	0.007413	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518020	113518020	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:113518020C>T	ENST00000284601.3	-	4	3195	c.3127G>A	c.(3127-3129)Gaa>Aaa	p.E1043K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1043					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GATTCCTTTTCACCTGAAGTG	0.378000													40	89					0	0	0.014410	0	0
STK26	51765	broad.mit.edu	37	X	131197485	131197485	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:131197485G>A	ENST00000394334.2	+	4	551	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	MST4_ENST00000496850.1_Missense_Mutation_p.E100K|MST4_ENST00000481105.1_Missense_Mutation_p.E122K|MST4_ENST00000394335.2_Missense_Mutation_p.E23K|MST4_ENST00000354719.6_Missense_Mutation_p.E100K	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN		100	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	p.E100*(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GATAATAATGGAATACCTGGG	0.323000													25	20					0	0	0.007291	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803517	185803517	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:185803517C>T	ENST00000302277.6	+	4	3988	c.3394C>T	c.(3394-3396)Ctt>Ttt	p.L1132F		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1132						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCAACAGTTTCTTTCCCAAAT	0.542000													10	49					0	0	0.010729	0	0
IGKV3-20	28912	broad.mit.edu	37	2	89442596	89442596	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:89442596C>T	ENST00000492167.1	-	0	47																											TTCCATGGTTCCCTCTGGGTC	0.572000													13	42					0	0	0.004990	0	0
NLRP9	338321	broad.mit.edu	37	19	56244734	56244734	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:56244734C>T	ENST00000332836.2	-	2	490	c.463G>A	c.(463-465)Gga>Aga	p.G155R		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	155	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTTCCAATTCCATCAGGACCT	0.413000													8	62					0	0	0.006214	0	0
FRMPD4	9758	broad.mit.edu	37	X	12632949	12632949	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:12632949A>T	ENST00000380682.1	+	4	877	c.371A>T	c.(370-372)aAt>aTt	p.N124I		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	124	PDZ.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GTAATGATTAATGATGAACCG	0.512000													27	10					0	0	0.008361	0	0
OR2T8	343172	broad.mit.edu	37	1	248084319	248084319	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248084319C>T	ENST00000319968.4	+	1	0		c.e1-1			NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	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)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TATTTGAAATCATGGAAAATG	0.373000													7	47					0	0	0.001984	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011151	105011151	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:105011151G>A	ENST00000372582.1	+	11	2314	c.1558G>A	c.(1558-1560)Gaa>Aaa	p.E520K	IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.E125K|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.E520K	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	520	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAATTGCCAGGAAGTGGAATC	0.388000													44	16					0	0	0.014410	0	0
CXorf66	347487	broad.mit.edu	37	X	139040376	139040376	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:139040376C>T	ENST00000370540.1	-	2	112	c.88_splice	c.e2-1	p.G30_splice		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	30						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						AGGTTTATCTCCTGCAAAGAG	0.308000													37	22					0	0	0.004878	0	0
IGFN1	91156	broad.mit.edu	37	1	201184950	201184950	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:201184950C>T	ENST00000335211.4	+	15	9409	c.9279C>T	c.(9277-9279)ctC>ctT	p.L3093L	IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_Silent_p.L253L	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						AGGCCGAGCTCACTCTGCAAG	0.632000													7	27					0	0	0.003080	0	0
SLC17A7	57030	broad.mit.edu	37	19	49933984	49933984	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:49933984C>T	ENST00000221485.3	-	12	1646	c.1475G>A	c.(1474-1476)gGa>gAa	p.G492E	SLC17A7_ENST00000600601.1_Missense_Mutation_p.G425E|SLC17A7_ENST00000543531.1_Missense_Mutation_p.G480E	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	492					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CTGCTTCTCTCCAGAAGCAAA	0.572000													20	40					0	0	0.010504	0	0
CACNA1E	777	broad.mit.edu	37	1	181695218	181695218	+	Silent	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:181695218A>G	ENST00000526775.1	+	18	2325	c.2160A>G	c.(2158-2160)gaA>gaG	p.E720E	CACNA1E_ENST00000367567.4_Silent_p.E327E|CACNA1E_ENST00000367570.1_Silent_p.E720E|CACNA1E_ENST00000358338.5_Silent_p.E671E|CACNA1E_ENST00000360108.3_Silent_p.E720E|CACNA1E_ENST00000357570.5_Silent_p.E671E|CACNA1E_ENST00000367573.2_Silent_p.E720E	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	720	Poly-Glu.				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						AGGAGGAAGAAGAGGCCTTCA	0.552000													5	17					0	0	0.001984	0	0
RBP3	5949	broad.mit.edu	37	10	48389017	48389017	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:48389017C>T	ENST00000224600.4	-	1	1974	c.1861G>A	c.(1861-1863)Gag>Aag	p.E621K		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	621	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TCCAGGGCCTCCTCGGCCAGC	0.672000													11	23					0	0	0.013537	0	0
IRS2	8660	broad.mit.edu	37	13	110436664	110436664	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:110436664G>A	ENST00000375856.3	-	1	2251	c.1737C>T	c.(1735-1737)acC>acT	p.T579T		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	579					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GGGCTGGCGTGGTCAGGGAGT	0.726000													13	11					0	0	0.001855	0	0
CALML3	810	broad.mit.edu	37	10	5567256	5567256	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:5567256C>T	ENST00000315238.1	+	1	333	c.208C>T	c.(208-210)Ctg>Ttg	p.L70L	RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000545372.1_RNA|CALML3-AS1_ENST00000542093.1_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	70	EF-hand 2.						calcium ion binding			endometrium(3)|lung(2)	5						CCCCGAGTTCCTGGGCATGAT	0.647000													8	9					0	0	0.004482	0	0
SYNE2	23224	broad.mit.edu	37	14	64681136	64681136	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:64681136C>T	ENST00000357395.3	+	107	19580	c.8436C>T	c.(8434-8436)ggC>ggT	p.G2812G	SYNE2_ENST00000554805.1_Silent_p.G210G|SYNE2_ENST00000344113.4_Silent_p.G6427G|SYNE2_ENST00000555002.1_Silent_p.G3061G|SYNE2_ENST00000555022.1_Silent_p.G305G|SYNE2_ENST00000458046.2_Silent_p.G61G|SYNE2_ENST00000394768.2_Silent_p.G2812G|SYNE2_ENST00000358025.3_Silent_p.G6427G|SYNE2_ENST00000554584.1_Silent_p.G6369G|ESR2_ENST00000542956.1_Intron			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6427					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACGTGGGGGGCTCCTCCTCTC	0.637000													9	24					0	0	0.006214	0	0
DCC	1630	broad.mit.edu	37	18	50592482	50592482	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:50592482G>A	ENST00000442544.2	+	7	1823	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	DCC_ENST00000412726.1_Missense_Mutation_p.E251K|DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Missense_Mutation_p.E58K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	403	Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.E403K(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATGTGTGGCTGAAAATGAGGC	0.438000													19	45					0	0	0.007413	0	0
RP1L1	94137	broad.mit.edu	37	8	10470431	10470431	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:10470431C>T	ENST00000382483.3	-	4	1400	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	393					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCAAAGACTTCCCTGCATCCC	0.657000													34	52					0	0	0.004878	0	0
TTN	7273	broad.mit.edu	37	2	179497392	179497392	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179497392G>A	ENST00000589042.1	-	235	43565	c.43341C>T	c.(43339-43341)atC>atT	p.I14447I	TTN_ENST00000460472.2_Silent_p.I5382I|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.I5507I|TTN_ENST00000342992.6_Silent_p.I11879I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.I5574I|TTN_ENST00000591111.1_Silent_p.I12806I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12806	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)			CATCACCTGTGATTTCCTGGG	0.408000													74	109					0	0	0.014410	0	0
NUGGC	389643	broad.mit.edu	37	8	27880884	27880884	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:27880884G>T	ENST00000413272.2	-	19	2483	c.2341C>A	c.(2341-2343)Ctc>Atc	p.L781I	NUGGC_ENST00000341513.6_Missense_Mutation_p.L781I	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated																		GCCCTTAGGAGGAATTCTTGC	0.562000													5	28					0.000602214	0.00065137	0.000602	1	0
TAS2R5	54429	broad.mit.edu	37	7	141490991	141490991	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:141490991C>T	ENST00000247883.4	+	1	975	c.830C>T	c.(829-831)cCt>cTt	p.P277L		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	277					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					ATGGGGATTCCTAGGGTGAAG	0.498000													49	101					0	0	0.014410	0	0
CDH4	1002	broad.mit.edu	37	20	60419756	60419756	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:60419756C>T	ENST00000360469.5	+	5	697	c.609C>T	c.(607-609)atC>atT	p.I203I	CDH4_ENST00000543233.1_Silent_p.I129I	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	203	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACATCCCCATCCGGTACAGCA	0.602000													21	48					0	0	0.004656	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37462263	37462263	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:37462263G>A	ENST00000381792.2	-	19	2472	c.2332C>T	c.(2332-2334)Ccg>Tcg	p.P778S	TMPRSS6_ENST00000406725.1_Missense_Mutation_p.P756S|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.P765S|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.P778S			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	765	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CACACCAGCGGACCACCTGAG	0.617000													8	12					0	0	0.003080	0	0
ICA1L	130026	broad.mit.edu	37	2	203680719	203680719	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:203680719C>T	ENST00000392237.2	-	8	855	c.698G>A	c.(697-699)gGa>gAa	p.G233E	ICA1L_ENST00000358299.2_Missense_Mutation_p.G233E	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	233	AH.									breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTCCAGAATCCAAGCAGTGT	0.388000													55	178					0	0	0.014410	0	0
FAT4	79633	broad.mit.edu	37	4	126411609	126411609	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:126411609G>A	ENST00000394329.3	+	17	13645	c.13632G>A	c.(13630-13632)aaG>aaA	p.K4544K	FAT4_ENST00000335110.5_Silent_p.K2785K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4544					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						AGAAACCGAAGGAGAAGAAGA	0.517000													19	26					0	0	0.007413	0	0
ACSBG2	81616	broad.mit.edu	37	19	6147520	6147520	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:6147520G>A	ENST00000586696.1	+	3	407	c.131G>A	c.(130-132)gGa>gAa	p.G44E	ACSBG2_ENST00000591403.1_Missense_Mutation_p.G44E|ACSBG2_ENST00000252669.5_Missense_Mutation_p.G44E|ACSBG2_ENST00000588485.1_5'UTR|ACSBG2_ENST00000588304.1_5'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	44					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCAAACACGGACCAGGCCAT	0.498000													37	87					0	0	0.005524	0	0
PTPRK	5796	broad.mit.edu	37	6	128294298	128294298	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:128294298C>T	ENST00000368227.3	-	30	4555	c.4189G>A	c.(4189-4191)Ggt>Agt	p.G1397S	PTPRK_ENST00000368210.3_Missense_Mutation_p.G1398S|PTPRK_ENST00000368226.4_Missense_Mutation_p.G1380S|PTPRK_ENST00000532331.1_Missense_Mutation_p.G1402S|PTPRK_ENST00000368215.3_Missense_Mutation_p.G1379S|PTPRK_ENST00000368213.5_Missense_Mutation_p.G1386S|PTPRK_ENST00000368207.3_Missense_Mutation_p.G1412S			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1379	Tyrosine-protein phosphatase 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CGCCCGCCACCATTTCTGAAA	0.423000													24	40					0	0	0.011902	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98376449	98376449	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:98376449C>T	ENST00000339364.5	-	13	2080	c.1961G>A	c.(1960-1962)aGa>aAa	p.R654K	PIK3AP1_ENST00000371109.3_Missense_Mutation_p.R253K|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.R476K	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	654						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GATGCTGTCTCTTAGCCGTTT	0.413000													10	40					0	0	0.013537	0	0
FILIP1	27145	broad.mit.edu	37	6	76024179	76024179	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:76024179C>T	ENST00000393004.2	-	5	1590	c.1369G>A	c.(1369-1371)Gag>Aag	p.E457K	FILIP1_ENST00000237172.7_Missense_Mutation_p.E457K|FILIP1_ENST00000370020.1_Missense_Mutation_p.E358K|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	457										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTTTCTTTCTCCAGATTTAAA	0.378000													26	61					0	0	0.006320	0	0
AKAP6	9472	broad.mit.edu	37	14	33290821	33290821	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:33290821C>T	ENST00000280979.4	+	13	3972	c.3802C>T	c.(3802-3804)Cat>Tat	p.H1268Y	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1268					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GGCTGATAACCATGGGGGATC	0.463000													9	30					0	0	0.004482	0	0
PLCG2	5336	broad.mit.edu	37	16	81914535	81914535	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:81914535G>A	ENST00000359376.3	+	8	883	c.669G>A	c.(667-669)aaG>aaA	p.K223K		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	223					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AATTCAAAAAGGATTCGTCCG	0.493000													8	86					0	0	0.003080	0	0
KMT2C	58508	broad.mit.edu	37	7	151849883	151849883	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:151849883G>A	ENST00000355193.2	-	50	12822	c.12604C>T	c.(12604-12606)Cgt>Tgt	p.R4202C	KMT2C_ENST00000262189.6_Missense_Mutation_p.R4145C					lysine (K)-specific methyltransferase 2C																		GGAGGCCCACGGAGAAGTAAA	0.522000													23	59					0	0	0.002780	0	0
MFAP2	4237	broad.mit.edu	37	1	17301806	17301806	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:17301806T>A	ENST00000375535.3	-	8	695	c.406A>T	c.(406-408)Atc>Ttc	p.I136F	MFAP2_ENST00000438542.1_Missense_Mutation_p.I135F|MFAP2_ENST00000375534.3_Missense_Mutation_p.I135F|MFAP2_ENST00000490075.1_5'UTR			P55001	MFAP2_HUMAN	microfibrillar-associated protein 2	136						microfibril				kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CGAACACAGATCTCCTTGTTA	0.607000													19	27					0	0	0.014323	0	0
C2	717	broad.mit.edu	37	6	31902050	31902050	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:31902050G>A	ENST00000299367.5	+	6	1099	c.823G>A	c.(823-825)Gag>Aag	p.E275K	C2_ENST00000418949.2_Missense_Mutation_p.E275K|CFB_ENST00000477310.1_Intron|C2_ENST00000452323.2_Intron|CFB_ENST00000556679.1_Intron|CFB_ENST00000456570.1_Intron|C2_ENST00000469372.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.E143K	NM_000063.4	NP_000054.2			complement component 2											haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		CATCTTCAAGGAGAGCGCCTC	0.547000													90	199					0	0	0.014410	0	0
LIN28B	389421	broad.mit.edu	37	6	105526491	105526491	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:105526491G>A	ENST00000345080.4	+	4	789	c.586G>A	c.(586-588)Gga>Aga	p.G196R		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	196					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				TCGAGAAGTGGGAGGCGGGCA	0.552000													14	23					0	0	0.002450	0	0
SLC7A11	23657	broad.mit.edu	37	4	139163186	139163186	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:139163186C>T	ENST00000280612.5	-	1	317	c.38G>A	c.(37-39)gGa>gAa	p.G13E		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	13					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	CAGGTAACCTCCTTTGGAGAT	0.488000													8	10					0	0	0.004482	0	0
NLRP14	338323	broad.mit.edu	37	11	7070921	7070921	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:7070921C>T	ENST00000299481.4	+	6	2489	c.2143C>T	c.(2143-2145)Cct>Tct	p.P715S		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	715					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TATCACTTTCCCTGATGGTTG	0.358000													14	55					0	0	0.004990	0	0
PRDM16	63976	broad.mit.edu	37	1	3347451	3347451	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:3347451C>T	ENST00000378398.3	+	16	3382	c.3300C>T	c.(3298-3300)atC>atT	p.I1100I	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Silent_p.I1100I|PRDM16_ENST00000511072.1_Silent_p.I1101I|PRDM16_ENST00000442529.2_Silent_p.I1099I|PRDM16_ENST00000441472.2_Silent_p.I1099I|PRDM16_ENST00000378391.2_Silent_p.I1100I|PRDM16_ENST00000270722.5_Silent_p.I1100I			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1100	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACATGCAGATCGTGGACGGCA	0.602000			T	EVI1	"""MDS, AML"""								16	36					0	0	0.008871	0	0
TTN	7273	broad.mit.edu	37	2	179612525	179612525	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179612525C>A	ENST00000360870.5	-	46	14824	c.14602G>T	c.(14602-14604)Gaa>Taa	p.E4868*	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	986	Ig-like 29.						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)			AAAGAAGCTTCATTCTGAACT	0.358000													14	40					3.27435e-08	3.57051e-08	0.002450	1	0
PRSS35	167681	broad.mit.edu	37	6	84233867	84233867	+	Missense_Mutation	SNP	C	C	T	rs145431726		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:84233867C>T	ENST00000536636.1	+	3	1052	c.707C>T	c.(706-708)tCt>tTt	p.S236F	PRSS35_ENST00000369700.3_Missense_Mutation_p.S236F	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	236	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		AGAAAAAAATCTGGCCGGGGT	0.572000													9	28					0	0	0.006214	0	0
ASXL2	55252	broad.mit.edu	37	2	25965600	25965600	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:25965600G>A	ENST00000435504.4	-	13	3899	c.3606C>T	c.(3604-3606)tcC>tcT	p.S1202S	ASXL2_ENST00000272341.4_Silent_p.S685S|ASXL2_ENST00000404843.1_Silent_p.S685S|ASXL2_ENST00000336112.4_Silent_p.S1174S			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	1202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCACTCTGGGAAACCTGGG	0.493000													22	53					0	0	0.012319	0	0
LRFN1	57622	broad.mit.edu	37	19	39805083	39805083	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:39805083G>A	ENST00000248668.4	-	1	893	c.894C>T	c.(892-894)ccC>ccT	p.P298P		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	298	LRRCT.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TGATCAGCGGGGGCTCACACA	0.711000													8	7					0	0	0.013537	0	0
C1orf87	127795	broad.mit.edu	37	1	60520946	60520946	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:60520946T>C	ENST00000371201.3	-	3	379	c.272A>G	c.(271-273)aAc>aGc	p.N91S	C1orf87_ENST00000450089.2_Missense_Mutation_p.N91S	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	91							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TTTCTGGTTGTTCTCTGGGTG	0.433000													82	151					0	0	0.014410	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140812029	140812029	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140812029C>T	ENST00000252085.3	+	1	1845	c.1703C>T	c.(1702-1704)cCc>cTc	p.P568L	PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGCCCTCCCCACGGACGGT	0.677000													24	81					0	0	0.003330	0	0
ZNF23	7571	broad.mit.edu	37	16	71482251	71482251	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:71482251G>A	ENST00000393539.2	-	6	2490	c.1677C>T	c.(1675-1677)ccC>ccT	p.P559P	ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000564528.1_Silent_p.P501P|ZNF23_ENST00000357254.4_Silent_p.P559P|ZNF23_ENST00000497160.1_3'UTR|RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000428724.2_Silent_p.P501P|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000417828.1_Silent_p.P559P	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TACACTGAAAGGGTTTCTCTC	0.428000													14	21					0	0	0.004990	0	0
HIP1	3092	broad.mit.edu	37	7	75186992	75186992	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:75186992G>A	ENST00000336926.6	-	16	1573	c.1547C>T	c.(1546-1548)tCg>tTg	p.S516L	HIP1_ENST00000434438.2_Missense_Mutation_p.S516L	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	516					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	p.S516L(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCGCTCCAACGAATCCTCCAG	0.557000			T	PDGFRB	CMML								44	60					0	0	0.008740	0	0
ZPLD1	131368	broad.mit.edu	37	3	102153984	102153984	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:102153984G>A	ENST00000306176.1	+	1	126	c.26G>A	c.(25-27)aGg>aAg	p.R9K	ZPLD1_ENST00000491959.1_Intron|ZPLD1_ENST00000466937.1_5'UTR	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	0						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TCCATGTGCAGGGGAAATGAT	0.363000													10	23					0	0	0.010729	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786323	121786323	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:121786323G>A	ENST00000261367.7	+	12	3350	c.1922G>A	c.(1921-1923)gGg>gAg	p.G641E	SNCAIP_ENST00000542191.1_Missense_Mutation_p.G152E|SNCAIP_ENST00000379536.2_Missense_Mutation_p.G534E|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.G641E|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.G228E|SNCAIP_ENST00000261368.8_Missense_Mutation_p.G594E|SNCAIP_ENST00000414317.2_Missense_Mutation_p.G196E|CTC-210G5.1_ENST00000505546.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	594					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GTCCAAGAGGGGATTCAGGTT	0.478000													17	47					0	0	0.004990	0	0
INPP5D	3635	broad.mit.edu	37	2	233925234	233925234	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:233925234G>A	ENST00000359570.5	+	1	46	c.46G>A	c.(46-48)Gag>Aag	p.E16K	INPP5D_ENST00000538935.1_Missense_Mutation_p.E16K			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	16	SH2.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CTCCAAGGCGGAGGAGCTGCT	0.677000													8	24					0	0	0.003080	0	0
CCNY	219771	broad.mit.edu	37	10	35819114	35819114	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:35819114C>T	ENST00000374704.4	+	7	702	c.522C>T	c.(520-522)ttC>ttT	p.F174F	CCNY_ENST00000339497.5_Silent_p.F149F|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000265375.9_Silent_p.F120F|CCNY_ENST00000374706.1_Silent_p.F120F	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	174	Cyclin N-terminal.				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TTTACCGGTTCGTTCGGACAC	0.532000													7	17					0	0	0.003080	0	0
COL5A1	1289	broad.mit.edu	37	9	137687129	137687129	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:137687129C>T	ENST00000371817.3	+	34	3181	c.2767C>T	c.(2767-2769)Ccc>Tcc	p.P923S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	923	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.P923S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TGAAAGAGGCCCCCGGGGCAT	0.637000													11	75					0	0	0.013537	0	0
ZNF780A	284323	broad.mit.edu	37	19	40581067	40581067	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:40581067G>A	ENST00000450241.2	-	6	1491	c.1180C>T	c.(1180-1182)Cgt>Tgt	p.R394C	ZNF780A_ENST00000340963.5_Missense_Mutation_p.R428C|ZNF780A_ENST00000594395.1_Missense_Mutation_p.R429C|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Missense_Mutation_p.R428C|ZNF780A_ENST00000455521.1_Missense_Mutation_p.R429C|ZNF780A_ENST00000414720.2_Intron			O75290	Z780A_HUMAN	zinc finger protein 780A	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGTGCACCACGATTAAAGCCT	0.383000													46	105					0	0	0.013114	0	0
OR4X2	119764	broad.mit.edu	37	11	48267329	48267329	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:48267329G>A	ENST00000302329.3	+	1	722	c.674G>A	c.(673-675)tGg>tAg	p.W225*		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TCTGAAGGGTGGTGCAAAGCC	0.537000													18	48					0	0	0.010504	0	0
FERMT1	55612	broad.mit.edu	37	20	6078265	6078265	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:6078265C>T	ENST00000217289.4	-	7	1651	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	FERMT1_ENST00000536936.1_Missense_Mutation_p.R31Q	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	288	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TTGGTTTATTCGGACAGCATC	0.403000													8	59					0	0	0.003080	0	0
HECW2	57520	broad.mit.edu	37	2	197182016	197182016	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:197182016C>T	ENST00000260983.2	-	10	2598	c.2416G>A	c.(2416-2418)Gac>Aac	p.D806N	HECW2_ENST00000409111.1_Missense_Mutation_p.D450N	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	806	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGAGCCTCGTCCACCCTCTGG	0.517000													5	16					0	0	0.000602	0	0
SYN3	8224	broad.mit.edu	37	22	32924936	32924936	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:32924936C>T	ENST00000358763.2	-	11	1397	c.1155G>A	c.(1153-1155)atG>atA	p.M385I	SYN3_ENST00000332840.5_Missense_Mutation_p.M385I	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	385	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CAAGGTCGGCCATCAGCTGTC	0.592000											OREG0026488	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	33					0	0	0.010729	0	0
DDO	8528	broad.mit.edu	37	6	110714003	110714003	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:110714003G>A	ENST00000368924.3	-	5	1100	c.1085C>T	c.(1084-1086)aCc>aTc	p.T362I	DDO_ENST00000368923.3_Missense_Mutation_p.T303I|DDO_ENST00000368925.1_Missense_Mutation_p.T334I	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	334					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GGGAATGGGGGTCCTGAGGGC	0.532000													9	25					0	0	0.008291	0	0
BIN2	51411	broad.mit.edu	37	12	51675282	51675282	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:51675282T>A	ENST00000604560.1	-	11	1542	c.1530A>T	c.(1528-1530)gaA>gaT	p.E510D	BIN2_ENST00000452142.2_3'UTR|BIN2_ENST00000267012.4_3'UTR|BIN2_ENST00000544402.1_3'UTR			Q9UBW5	BIN2_HUMAN	bridging integrator 2	0						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GTAGTTTCTCTTCAGAGTTGT	0.483000													14	39					0	0	0.003163	0	0
TEX10	54881	broad.mit.edu	37	9	103111464	103111464	+	Splice_Site	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:103111464A>T	ENST00000374902.4	-	2	357		c.e2+1		TEX10_ENST00000535814.1_Splice_Site|TEX10_ENST00000537512.1_Intron	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10							integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TTTATGATTTACCTTTATGTT	0.294000													4	26					0	0	0.009096	0	0
CASP10	843	broad.mit.edu	37	2	202065209	202065209	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:202065209C>T	ENST00000374650.3	+	6	884	c.728C>T	c.(727-729)tCg>tTg	p.S243L	CASP10_ENST00000346817.5_Intron|CASP10_ENST00000492363.1_Intron|CASP10_ENST00000313728.7_Intron|CASP10_ENST00000448480.1_Intron|CASP10_ENST00000272879.5_Intron|CASP10_ENST00000360132.3_Intron|CASP10_ENST00000286186.6_Intron			Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	0					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						CGTGGAAACTCGCCAGATGAC	0.507000													6	19					0	0	0.003080	0	0
AC096579.13	0	broad.mit.edu	37	2	89156946	89156946	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:89156946G>A	ENST00000452230.1	-	0	39				IGKC_ENST00000390237.2_RNA|AC096579.7_ENST00000430694.1_RNA																							CGCAGGCGTAGACTTTGTGTT	0.577000													12	50					0	0	0.013537	0	0
CALCR	799	broad.mit.edu	37	7	93098044	93098044	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:93098044C>T	ENST00000359558.2	-	8	857	c.558G>A	c.(556-558)ggG>ggA	p.G186G	CALCR_ENST00000394441.1_Silent_p.G168G|CALCR_ENST00000421592.1_Silent_p.G168G|CALCR_ENST00000360249.4_Silent_p.G168G|CALCR_ENST00000426151.1_Silent_p.G168G	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	168					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.G186G(1)|p.G168G(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ACACGAAAATCCCCAGGGAAA	0.388000													17	46					0	0	0.006122	0	0
CLDN2	9075	broad.mit.edu	37	X	106171926	106171926	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:106171926G>A	ENST00000541806.1	+	2	987	c.468G>A	c.(466-468)atG>atA	p.M156I	CLDN2_ENST00000336803.1_Missense_Mutation_p.M156I|CLDN2_ENST00000540876.1_Missense_Mutation_p.M156I	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	156					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.M156I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CTGACAGCATGAAATTTGAGA	0.478000													51	25					0	0	0.014410	0	0
DHRS3	9249	broad.mit.edu	37	1	12639399	12639399	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:12639399G>A	ENST00000376223.2	-	3	764	c.381C>T	c.(379-381)gtC>gtT	p.V127V		NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	127					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TCTTCCCATGGACCACGGCGG	0.602000													27	34					0	0	0.006320	0	0
OR10J1	26476	broad.mit.edu	37	1	159409968	159409968	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:159409968C>T	ENST00000423932.3	+	1	457	c.420C>T	c.(418-420)ccC>ccT	p.P140P	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	140					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TCTGCAACCCCCTGAGATACA	0.488000													15	78					0	0	0.003163	0	0
CAPN13	92291	broad.mit.edu	37	2	30954238	30954238	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:30954238C>T	ENST00000295055.8	-	21	2131	c.1955G>A	c.(1954-1956)gGa>gAa	p.G652E	CAPN13_ENST00000534090.2_Missense_Mutation_p.G652E	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	652	EF-hand 2.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GAGTCCTTTTCCATCCTTAGA	0.562000													8	14					0	0	0.010729	0	0
KALRN	8997	broad.mit.edu	37	3	123987907	123987907	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:123987907C>T	ENST00000360013.3	+	5	895	c.768C>T	c.(766-768)atC>atT	p.I256I	KALRN_ENST00000460856.1_Silent_p.I256I|KALRN_ENST00000240874.3_Silent_p.I256I	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	256					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGCAGTGCATCCGCTGCAGCG	0.622000													7	16					0	0	0.001984	0	0
SALL1	6299	broad.mit.edu	37	16	51175015	51175015	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:51175015G>A	ENST00000440970.1	-	2	1258	c.827C>T	c.(826-828)tCg>tTg	p.S276L	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S373L	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	373					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGTGAGGACGATGATGAGAC	0.512000													19	40					0	0	0.007413	0	0
PTPRB	5787	broad.mit.edu	37	12	70986322	70986322	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:70986322G>A	ENST00000334414.6	-	7	1564	c.1520C>T	c.(1519-1521)cCc>cTc	p.P507L	PTPRB_ENST00000451516.2_Missense_Mutation_p.P289L|PTPRB_ENST00000550358.1_Missense_Mutation_p.P507L|PTPRB_ENST00000551525.1_Missense_Mutation_p.P506L|PTPRB_ENST00000261266.5_Missense_Mutation_p.P289L|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Missense_Mutation_p.P289L|PTPRB_ENST00000538708.1_Missense_Mutation_p.P289L	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	289	Fibronectin type-III 6.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GACTTCCATGGGGGCTAATCA	0.403000													19	12					0	0	0.002780	0	0
EPM2A	7957	broad.mit.edu	37	6	145948663	145948663	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:145948663G>A	ENST00000367519.3	-	4	1410	c.885C>T	c.(883-885)ttC>ttT	p.F295F		NM_005670.3	NP_005661.1	O95278	EPM2A_HUMAN	epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)	295	Tyrosine-protein phosphatase.				glycogen metabolic process	cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome	carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		TGGCCATGAGGAAATACTGCA	0.562000													4	48					0	0	0.000602	0	0
GRIA1	2890	broad.mit.edu	37	5	152873489	152873489	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:152873489G>A	ENST00000285900.5	+	2	427	c.82_splice	c.e2-1	p.G28_splice	GRIA1_ENST00000521843.2_5'UTR|GRIA1_ENST00000518142.1_Splice_Site_p.G28_splice|GRIA1_ENST00000340592.5_Splice_Site_p.G28_splice|GRIA1_ENST00000518783.1_Splice_Site_p.W38_splice|GRIA1_ENST00000448073.4_Splice_Site_p.W38_splice|GRIA1_ENST00000518862.1_3'UTR	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	28					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTCTCATAGGGGGATTATTTC	0.463000													13	40					0	0	0.006122	0	0
DENND1A	57706	broad.mit.edu	37	9	126144874	126144874	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:126144874G>A	ENST00000373624.2	-	22	2068	c.1867C>T	c.(1867-1869)Cgc>Tgc	p.R623C	DENND1A_ENST00000394219.3_Missense_Mutation_p.R634C|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000542603.1_Missense_Mutation_p.R408C	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	623						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GTCACCCCGCGGCTCCTCTCA	0.642000													11	35					0	0	0.013537	0	0
SLC25A21	89874	broad.mit.edu	37	14	37153963	37153963	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:37153963G>A	ENST00000331299.5	-	8	1286	c.771C>T	c.(769-771)gtC>gtT	p.V257V	SLC25A21_ENST00000555449.1_Silent_p.V257V	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	257					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		CTTCCTGATAGACTGTTGCCA	0.378000													17	90					0	0	0.006122	0	0
ACTR1A	10121	broad.mit.edu	37	10	104245387	104245387	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:104245387G>A	ENST00000369905.4	-	5	482	c.419C>T	c.(418-420)tCc>tTc	p.S140F	ACTR1A_ENST00000545684.1_Missense_Mutation_p.S66F|ACTR1A_ENST00000487599.1_Missense_Mutation_p.S140F|ACTR1A_ENST00000446605.2_Missense_Mutation_p.S93F	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	140					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		AGCTTGCATGGAGATGAAAAG	0.567000													17	40					0	0	0.004990	0	0
SV2C	22987	broad.mit.edu	37	5	75594650	75594650	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:75594650T>A	ENST00000502798.2	+	10	1976	c.1534T>A	c.(1534-1536)Ttc>Atc	p.F512I	RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Missense_Mutation_p.F512I	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	512					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		ATCTGTAACTTTCAAAGACTC	0.368000													19	51					0	0	0.014323	0	0
ERCC6	2074	broad.mit.edu	37	10	50701288	50701288	+	Silent	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:50701288A>G	ENST00000355832.5	-	8	1774	c.1696T>C	c.(1696-1698)Ttg>Ctg	p.L566L	ERCC6_ENST00000542458.1_Intron	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	566	Helicase ATP-binding.				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						GTTGGACCCAACCCCTCAAAC	0.443000								Direct reversal of damage;Nucleotide excision repair (NER)					4	18					0	0	0.000602	0	0
SLIT1	6585	broad.mit.edu	37	10	98764484	98764484	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:98764484C>T	ENST00000266058.4	-	33	3921	c.3676G>A	c.(3676-3678)Gac>Aac	p.D1226N	SLIT1_ENST00000371070.4_Missense_Mutation_p.D1226N|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1226	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CTGCCTGGGTCGTAGCTGACA	0.612000													9	28					0	0	0.004482	0	0
WBSCR27	155368	broad.mit.edu	37	7	73249193	73249193	+	Silent	SNP	G	G	C	rs141574320	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:73249193G>C	ENST00000297873.4	-	6	667	c.618C>G	c.(616-618)acC>acG	p.T206T		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	206										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				AGCTCCCAGCGGTCCACAGGC	0.622000													11	41					0	0	0.001855	0	0
CSMD1	64478	broad.mit.edu	37	8	3141814	3141814	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:3141814C>T	ENST00000520002.1	-	27	4563	c.4008G>A	c.(4006-4008)tgG>tgA	p.W1336*	CSMD1_ENST00000602557.1_Nonsense_Mutation_p.W1336*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.W1335*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.W1336*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.W1336*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.W1335*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.W1335*|CSMD1_ENST00000523387.1_5'UTR			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1336	CUB 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCGGCCCGTCCCAGACCTTGA	0.572000											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	18					0	0	0.003163	0	0
CA10	56934	broad.mit.edu	37	17	50008440	50008440	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:50008440C>T	ENST00000451037.2	-	3	1129	c.189G>A	c.(187-189)ggG>ggA	p.G63G	CA10_ENST00000285273.4_Silent_p.G63G|CA10_ENST00000570565.1_5'UTR|CA10_ENST00000340813.6_Silent_p.G69G|CA10_ENST00000442502.2_Silent_p.G63G	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	63					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			ACTGCCGTTTCCCCACAGAGC	0.493000													106	58					0	0	0.014410	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092386	30092386	+	RNA	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:30092386T>A	ENST00000567636.1	+	0	761					NR_003558.1																						TGTTCCACATTTGCCTCCTGG	0.562000													16	25					0	0	0.003163	0	0
BTNL2	56244	broad.mit.edu	37	6	32372984	32372984	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:32372984G>A	ENST00000454136.3	-	2	163	c.159C>T	c.(157-159)ctC>ctT	p.L53L	BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000544175.1_5'UTR|BTNL2_ENST00000374995.3_Silent_p.L53L|BTNL2_ENST00000374993.1_Silent_p.L53L|BTNL2_ENST00000429232.2_Silent_p.L53L|BTNL2_ENST00000414363.1_Intron			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	53	Ig-like V-type 1.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TCCTCTTGGGGAGTAGCTGGC	0.532000													34	59					0	0	0.013726	0	0
UBQLN1	29979	broad.mit.edu	37	9	86284156	86284156	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:86284156G>A	ENST00000376395.4	-	7	1715	c.1192C>T	c.(1192-1194)Ccc>Tcc	p.P398S	UBQLN1_ENST00000257468.7_Missense_Mutation_p.P398S	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	398					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						CTCATGTAGGGGGCAGACAAC	0.413000													9	20					0	0	0.004482	0	0
GAREM	64762	broad.mit.edu	37	18	29868073	29868073	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:29868073G>A	ENST00000399218.4	-	4	542	c.487C>T	c.(487-489)Ctt>Ttt	p.L163F	RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000269209.6_Missense_Mutation_p.L163F|GAREM_ENST00000578619.1_5'UTR	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		TTTGCATAAAGGATTTCTGCC	0.428000													12	40					0	0	0.013537	0	0
OR2L8	391190	broad.mit.edu	37	1	248112537	248112537	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248112537C>T	ENST00000357191.3	+	1	378	c.378C>T	c.(376-378)tgC>tgT	p.C126C	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	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)			TTGCTATTTGCTTTCCTCTCC	0.458000													47	139					0	0	0.014410	0	0
TIAM2	26230	broad.mit.edu	37	6	155451113	155451113	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:155451113C>T	ENST00000461783.3	+	6	2029	c.756C>T	c.(754-756)tcC>tcT	p.S252S	TIAM2_ENST00000456144.1_Silent_p.S252S|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Silent_p.S252S|TIAM2_ENST00000318981.5_Silent_p.S252S|TIAM2_ENST00000360366.4_Silent_p.S252S			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	252					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGTACGACTCCCCTTGGGGCA	0.662000													26	68					0	0	0.005443	0	0
NOLC1	9221	broad.mit.edu	37	10	103921612	103921612	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:103921612C>T	ENST00000405356.1	+	12	2136	c.1901C>T	c.(1900-1902)cCa>cTa	p.P634L	NOLC1_ENST00000477977.1_3'UTR|NOLC1_ENST00000603742.1_Missense_Mutation_p.P343L|NOLC1_ENST00000488254.2_Missense_Mutation_p.P625L|NOLC1_ENST00000605788.1_Missense_Mutation_p.P624L			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	624					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		GCATCATCCCCATTCCGAAGG	0.473000													12	44					0	0	0.001855	0	0
KIF21B	23046	broad.mit.edu	37	1	200968483	200968483	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:200968483C>T	ENST00000332129.2	-	13	2195	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K	KIF21B_ENST00000360529.5_Missense_Mutation_p.E627K|KIF21B_ENST00000422435.2_Missense_Mutation_p.E627K|KIF21B_ENST00000461742.2_Missense_Mutation_p.E627K	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	627					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCACCCTTCTCCTCGGGGTCT	0.627000													35	50					0	0	0.004878	0	0
TTN	7273	broad.mit.edu	37	2	179478868	179478868	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179478868T>A	ENST00000589042.1	-	262	49480	c.49256A>T	c.(49255-49257)aAa>aTa	p.K16419I	TTN_ENST00000460472.2_Missense_Mutation_p.K7354I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K7479I|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K13851I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K7546I|TTN_ENST00000591111.1_Missense_Mutation_p.K14778I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14778	Ig-like 100.						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)			GATGTACTCTTTATTGGGGAT	0.433000													4	17					0	0	0.000602	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87151710	87151710	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:87151710G>A	ENST00000285393.3	+	3	469	c.327G>A	c.(325-327)gtG>gtA	p.V109V	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	109					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						TAGACAATGTGATTCTGCTGA	0.423000													14	49					0	0	0.003163	0	0
MGAM	8972	broad.mit.edu	37	7	141760126	141760126	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:141760126C>T	ENST00000475668.2	+	34	4129	c.4075C>T	c.(4075-4077)Cct>Tct	p.P1359S	MGAM_ENST00000549489.2_Missense_Mutation_p.P1359S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1359	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCCTGATTTTCCTGATGTTGT	0.438000													13	31					0	0	0.004007	0	0
ABCB1	5243	broad.mit.edu	37	7	87214993	87214993	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:87214993G>A	ENST00000265724.3	-	5	538	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	ABCB1_ENST00000543898.1_Missense_Mutation_p.R41C	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	41					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTTGAATAGCGAAACTAAAAA	0.378000													15	12					0	0	0.002450	0	0
ADAM15	8751	broad.mit.edu	37	1	155028619	155028619	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:155028619C>T	ENST00000356955.2	+	9	909	c.808C>T	c.(808-810)Ctg>Ttg	p.L270L	ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000271836.6_Silent_p.L270L|ADAM15_ENST00000368412.3_Silent_p.L270L|ADAM15_ENST00000531455.1_Silent_p.L280L|ADAM15_ENST00000447332.3_Silent_p.L254L|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000355956.2_Silent_p.L270L|ADAM15_ENST00000449910.2_Silent_p.L270L|ADAM15_ENST00000360674.4_Silent_p.L270L|ADAM15_ENST00000359280.4_Silent_p.L270L|ADAM15_ENST00000368410.2_Intron	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	270	Peptidase M12B.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCAGCGTGACCTGGTGGAGAT	0.602000													16	41					0	0	0.006122	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047200	42047200	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:42047200G>A	ENST00000372584.1	-	3	4283	c.3269C>T	c.(3268-3270)tCt>tTt	p.S1090F	HIVEP3_ENST00000247584.5_Missense_Mutation_p.S1090F|HIVEP3_ENST00000372583.1_Missense_Mutation_p.S1090F|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S1090F	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1090					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGTGGCCGCAGAGGAAATCTG	0.607000													7	66					0	0	0.001984	0	0
PARP10	84875	broad.mit.edu	37	8	145058554	145058554	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:145058554G>A	ENST00000313028.7	-	6	1598	c.1504C>T	c.(1504-1506)Cgg>Tgg	p.R502W	PARP10_ENST00000524918.1_Missense_Mutation_p.R502W|PARP10_ENST00000525773.1_Missense_Mutation_p.R514W	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	502						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCAGGCTCCGCAGAAACTCC	0.617000													9	15					0	0	0.006214	0	0
MYBPC2	4606	broad.mit.edu	37	19	50957356	50957356	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:50957356G>T	ENST00000357701.5	+	17	1880	c.1829G>T	c.(1828-1830)cGg>cTg	p.R610L		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	610	Ig-like C2-type 5.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGTGCGCAGCGGGAAGACGAG	0.607000													6	7					5.9392e-07	6.4635e-07	0.001168	1	0
PCDH18	54510	broad.mit.edu	37	4	138451759	138451759	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:138451759C>T	ENST00000344876.4	-	1	1870	c.1484G>A	c.(1483-1485)gGa>gAa	p.G495E	PCDH18_ENST00000507846.1_Missense_Mutation_p.G275E|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.G495E	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	495	Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCCATTTTCTCCAAGATCAGG	0.413000													17	65					0	0	0.012319	0	0
OR1C1	26188	broad.mit.edu	37	1	247920823	247920823	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:247920823C>T	ENST00000408896.2	-	1	1159	c.886G>A	c.(886-888)Gat>Aat	p.D296N		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	296					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)			CTCTTCATATCCCTGTTCCTT	0.428000													52	76					0	0	0.014410	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48585991	48585991	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:48585991T>C	ENST00000323776.5	+	1	247	c.85T>C	c.(85-87)Tgg>Cgg	p.W29R	MYCBPAP_ENST00000419930.1_Missense_Mutation_p.W29R|MYCBPAP_ENST00000436259.2_5'UTR	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	0					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TCGGTGTCTCTGGGCCGGCGG	0.647000													4	1					0	0	0.009096	0	0
MYH11	4629	broad.mit.edu	37	16	15835512	15835512	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:15835512C>T	ENST00000338282.6	-	22	2773	c.2667G>A	c.(2665-2667)aaG>aaA	p.K889K	MYH11_ENST00000396324.3_Silent_p.K896K|MYH11_ENST00000300036.5_Silent_p.K889K|MYH11_ENST00000452625.2_Silent_p.K896K|AF001548.6_ENST00000577048.1_RNA|MYH11_ENST00000576790.1_Silent_p.K889K	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	889				EEK -> NSE (in Ref. 4).	axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GTAGCAGGTTCTTCTCCTCGG	0.637000			T	CBFB	AML								17	73					0	0	0.004007	0	0
MUC16	94025	broad.mit.edu	37	19	9091052	9091052	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9091052C>T	ENST00000397910.4	-	1	966	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	255	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						AGAATCAGTTCCAGGCTTGTT	0.478000													15	33					0	0	0.002450	0	0
ABCA4	24	broad.mit.edu	37	1	94508412	94508412	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:94508412C>T	ENST00000370225.3	-	22	3319	c.3233G>A	c.(3232-3234)gGa>gAa	p.G1078E		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1078	ABC transporter 1.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTTGGCATCTCCCACAAAGGC	0.557000													27	57					0	0	0.006320	0	0
NEFH	4744	broad.mit.edu	37	22	29886023	29886023	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:29886023G>A	ENST00000310624.6	+	4	2427	c.2394G>A	c.(2392-2394)aaG>aaA	p.K798K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	804	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCCCAGAGAAGGCGAAATCTC	0.557000													15	15					0	0	0.002450	0	0
C1orf94	84970	broad.mit.edu	37	1	34662971	34662971	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:34662971G>A	ENST00000488417.1	+	2	586	c.466G>A	c.(466-468)Gag>Aag	p.E156K	C1orf94_ENST00000373374.3_5'UTR	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	95							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GGGGACCAGAGAGCTGGCTCC	0.587000													5	11					0	0	0.000602	0	0
TRPM3	80036	broad.mit.edu	37	9	73151591	73151591	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:73151591C>T	ENST00000377110.2	-	25	4645	c.4402G>A	c.(4402-4404)Gac>Aac	p.D1468N	TRPM3_ENST00000396285.1_Missense_Mutation_p.D1327N|TRPM3_ENST00000357533.2_Missense_Mutation_p.D1472N|TRPM3_ENST00000396292.4_Missense_Mutation_p.D1340N|TRPM3_ENST00000358082.3_Missense_Mutation_p.D1330N|TRPM3_ENST00000396280.5_Missense_Mutation_p.D1317N|TRPM3_ENST00000360823.2_Missense_Mutation_p.D1330N|TRPM3_ENST00000423814.3_Missense_Mutation_p.D1495N|TRPM3_ENST00000377105.1_Missense_Mutation_p.D1327N|TRPM3_ENST00000377106.1_Missense_Mutation_p.D1340N|TRPM3_ENST00000408909.2_Missense_Mutation_p.D1327N|TRPM3_ENST00000377111.2_Intron	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1493						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GATCTAGTGTCCATGGAGGTG	0.512000													15	52					0	0	0.004990	0	0
ASB15	142685	broad.mit.edu	37	7	123267301	123267301	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:123267301C>T	ENST00000451558.1	+	11	1356	c.835C>T	c.(835-837)Cct>Tct	p.P279S	ASB15_ENST00000434204.1_Missense_Mutation_p.P279S|ASB15_ENST00000275699.3_Missense_Mutation_p.P279S|ASB15_ENST00000540573.1_Missense_Mutation_p.P279S|ASB15_ENST00000451215.1_Missense_Mutation_p.P279S			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	279					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AGGACATCTTCCTATACACCG	0.433000													5	32					0	0	0.000602	0	0
MED12L	116931	broad.mit.edu	37	3	150876535	150876535	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:150876535C>T	ENST00000474524.1	+	6	824	c.786C>T	c.(784-786)atC>atT	p.I262I	MED12L_ENST00000422248.2_Silent_p.I262I|MED12L_ENST00000309237.4_Silent_p.I262I|MED12L_ENST00000273432.4_Silent_p.I262I	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	262					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAGAAAAGATCAGACCAATGG	0.343000													6	22					0	0	0.004482	0	0
POU5F2	134187	broad.mit.edu	37	5	93077220	93077220	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:93077220C>T	ENST00000510627.4	-	1	123	c.50G>A	c.(49-51)gGt>gAt	p.G17D	FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509163.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	17						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		GCCGCCCCCACCACTGCCTGG	0.687000													3	7					0	0	0.004672	0	0
MCF2	4168	broad.mit.edu	37	X	138684655	138684655	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:138684655C>T	ENST00000520602.1	-	19	2211	c.1926G>A	c.(1924-1926)aaG>aaA	p.K642K	MCF2_ENST00000414978.1_Silent_p.K642K|MCF2_ENST00000370578.4_Silent_p.K727K|MCF2_ENST00000519895.1_Silent_p.K658K|MCF2_ENST00000370573.4_Silent_p.K582K|MCF2_ENST00000370576.4_Silent_p.K582K|MCF2_ENST00000338585.6_Silent_p.K598K|MCF2_ENST00000536274.1_Silent_p.K543K			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	582	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GAAAATCATCCTTCTGTGATA	0.333000													33	13					0	0	0.009535	0	0
OVOL2	58495	broad.mit.edu	37	20	18005591	18005591	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:18005591G>A	ENST00000278780.6	-	4	759	c.517C>T	c.(517-519)Cgt>Tgt	p.R173C	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	173					negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TTGTAGGGACGAATGCCTGAA	0.522000													12	70					0	0	0.001855	0	0
LRFN2	57497	broad.mit.edu	37	6	40400164	40400164	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:40400164G>A	ENST00000338305.6	-	2	1231	c.689C>T	c.(688-690)cCc>cTc	p.P230L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	230						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGGGCAAAGGGTGTGGCTGT	0.592000													20	37					0	0	0.008871	0	0
BMS1	9790	broad.mit.edu	37	10	43315784	43315784	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:43315784C>T	ENST00000374518.4	+	16	2744	c.2681C>T	c.(2680-2682)cCc>cTc	p.P894L		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	894					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAAAATGTTCCCTGTGAATTT	0.483000													5	60					0	0	0.000602	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013041	142013041	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142013041C>T	ENST00000390357.3	+	0	35																											CTAGCATGGGCTGCAGGCTGC	0.582000													18	44					0	0	0.010504	0	0
IMPG1	3617	broad.mit.edu	37	6	76751661	76751661	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:76751661C>T	ENST00000369950.3	-	2	439	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	IMPG1_ENST00000369963.3_Intron	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	84					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTCATGGATTCCTGTGGACAG	0.383000													15	45					0	0	0.008871	0	0
CLTCL1	8218	broad.mit.edu	37	22	19197878	19197878	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:19197878G>A	ENST00000263200.10	-	20	3279	c.3207C>T	c.(3205-3207)ttC>ttT	p.F1069F	CLTCL1_ENST00000353891.5_Silent_p.F1069F|CLTCL1_ENST00000427926.1_Silent_p.F1069F	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1069	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GGAAAACGGTGAAGGCCTCCT	0.552000			T	?	ALCL								21	56					0	0	0.003954	0	0
L1TD1	54596	broad.mit.edu	37	1	62672691	62672691	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:62672691G>A	ENST00000498273.1	+	3	686	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	131										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						tgatgataatgaaaatttaac	0.318000													32	65					0	0	0.010818	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102495924	102495924	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:102495924C>T	ENST00000360184.4	+	49	9681	c.9517C>T	c.(9517-9519)Cct>Tct	p.P3173S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3173					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GGCCATCACCCCTCGCCACTA	0.527000													14	24					0	0	0.002450	0	0
DIAPH1	1729	broad.mit.edu	37	5	140908358	140908358	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140908358G>A	ENST00000253811.6	-	22	3072	c.2932C>T	c.(2932-2934)Cta>Tta	p.L978L	DIAPH1_ENST00000518047.1_Silent_p.L965L|DIAPH1_ENST00000520569.1_Silent_p.L920L|DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000389057.5_Silent_p.L968L|DIAPH1_ENST00000398562.2_Silent_p.L953L|DIAPH1_ENST00000398566.3_Silent_p.L969L|DIAPH1_ENST00000389054.3_Silent_p.L974L|DIAPH1_ENST00000398557.4_Silent_p.L977L			O60610	DIAP1_HUMAN	diaphanous-related formin 1	977	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAATCTCTAGGAGATTGGAA	0.448000													18	32					0	0	0.007413	0	0
C4orf21	55345	broad.mit.edu	37	4	113540840	113540840	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:113540840G>A	ENST00000505019.1	-	6	483	c.358C>T	c.(358-360)Caa>Taa	p.Q120*	C4orf21_ENST00000445203.2_Nonsense_Mutation_p.Q89*|C4orf21_ENST00000309071.5_Nonsense_Mutation_p.Q120*	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	120										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CGTGGTCCTTGAAAACCCTGA	0.363000													17	16					0	0	0.007413	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55378036	55378036	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55378036C>T	ENST00000326321.3	+	9	1251	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	KIR3DL2_ENST00000270442.5_Silent_p.F389F|KIR3DL1_ENST00000402254.2_Silent_p.F406F	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	406					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)		ACTGCGTTTTCATACAGAGAA	0.517000													73	204					0	0	0.014410	0	0
DTX2	113878	broad.mit.edu	37	7	76111856	76111856	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:76111856C>T	ENST00000324432.5	+	5	810	c.300C>T	c.(298-300)ttC>ttT	p.F100F	DTX2_ENST00000446600.1_Silent_p.F9F|DTX2_ENST00000413936.2_Silent_p.F100F|DTX2_ENST00000307569.8_Silent_p.F100F|DTX2_ENST00000446820.2_Silent_p.F100F|DTX2_ENST00000430490.2_Silent_p.F100F|DTX2_ENST00000472426.1_3'UTR	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	100	WWE 2.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GACACCTGTTCCCCCAGCACT	0.552000													25	54					0	0	0.004656	0	0
BSND	7809	broad.mit.edu	37	1	55470745	55470745	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:55470745G>A	ENST00000371265.4	+	2	482	c.228G>A	c.(226-228)aaG>aaA	p.K76K		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	76						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						TCTCCCCAAAGGCCATGGGCC	0.607000													6	54					0	0	0.001984	0	0
SALL1	6299	broad.mit.edu	37	16	51173548	51173548	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:51173548C>T	ENST00000440970.1	-	2	2725	c.2294G>A	c.(2293-2295)aGc>aAc	p.S765N	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S862N	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	862					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGCAGCGATGCTCGACATCTC	0.547000													17	53					0	0	0.006122	0	0
LMO7	4008	broad.mit.edu	37	13	76381956	76381956	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:76381956G>A	ENST00000357063.3	+	11	2953	c.1693G>A	c.(1693-1695)Gaa>Aaa	p.E565K	LMO7_ENST00000321797.8_Missense_Mutation_p.E280K|LMO7_ENST00000377534.3_Missense_Mutation_p.E565K|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000465261.2_Missense_Mutation_p.E280K|LMO7_ENST00000526202.1_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	565						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TCCGGATTTGGAAAAAGATGA	0.438000													9	71					0	0	0.006214	0	0
MYOT	9499	broad.mit.edu	37	5	137217680	137217680	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:137217680G>A	ENST00000239926.4	+	6	1076	c.702G>A	c.(700-702)agG>agA	p.R234R	MYOT_ENST00000421631.2_Silent_p.R50R|MYOT_ENST00000509812.1_Intron|MYOT_ENST00000515645.1_Silent_p.R119R|RP11-381K20.2_ENST00000514616.1_RNA	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	myotilin	234	Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAACCTCAAGGGGAGATGTGA	0.363000													11	20					0	0	0.013537	0	0
IL18R1	8809	broad.mit.edu	37	2	102984491	102984491	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:102984491G>A	ENST00000409599.1	+	4	621	c.265G>A	c.(265-267)Gag>Aag	p.E89K	IL18R1_ENST00000233957.1_Missense_Mutation_p.E89K|IL18R1_ENST00000334376.3_Missense_Mutation_p.E89K			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	89	Ig-like C2-type 1.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTGGCCAGTTGAGTTGAATGA	0.418000													20	72					0	0	0.007413	0	0
RP1L1	94137	broad.mit.edu	37	8	10468882	10468882	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:10468882C>T	ENST00000382483.3	-	4	2949	c.2726G>A	c.(2725-2727)aGg>aAg	p.R909K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	909					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACTGCTTCTCCTTGATGCCCC	0.711000													3	14					0	0	0.004672	0	0
OAS3	4940	broad.mit.edu	37	12	113388611	113388611	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:113388611C>T	ENST00000228928.7	+	7	1667	c.1488C>T	c.(1486-1488)atC>atT	p.I496I	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	496	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GCGCAGAGATCCTTGATGAGA	0.587000													49	41					0	0	0.014410	0	0
FGL2	10875	broad.mit.edu	37	7	76825985	76825985	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:76825985C>T	ENST00000248598.5	-	2	963	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	311	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						GCATATAGTTCGACACCATTA	0.383000													22	55					0	0	0.002780	0	0
KLK4	9622	broad.mit.edu	37	19	51411882	51411882	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:51411882G>A	ENST00000324041.1	-	3	427	c.428C>T	c.(427-429)aCc>aTc	p.T143I	KLK4_ENST00000431178.2_Missense_Mutation_p.T94I	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	143	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GTTCCCCGCGGTAGGGCACTG	0.597000													11	36					0	0	0.010729	0	0
CCDC142	84865	broad.mit.edu	37	2	74707920	74707920	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:74707920G>A	ENST00000393965.3	-	5	1875	c.1479C>T	c.(1477-1479)atC>atT	p.I493I	CCDC142_ENST00000290418.4_Silent_p.I486I|CCDC142_ENST00000471713.1_5'UTR	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	493										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						TCAGCTTCTGGATCTCCAGGC	0.547000													11	53					0	0	0.004007	0	0
NYNRIN	57523	broad.mit.edu	37	14	24878928	24878928	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:24878928C>T	ENST00000382554.3	+	4	2246	c.1928C>T	c.(1927-1929)cCc>cTc	p.P643L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	643					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCCAAAACACCCAAAGCTCAA	0.537000													3	4					0	0	0.009096	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41447371	41447371	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:41447371G>A	ENST00000599198.1	+	0	870					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						TGCTCCACATGGAAAAAGTGG	0.567000													23	32					0	0	0.012319	0	0
XIRP2	129446	broad.mit.edu	37	2	168102229	168102229	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:168102229G>A	ENST00000409195.1	+	9	4416	c.4327G>A	c.(4327-4329)Gaa>Aaa	p.E1443K	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1221K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1443K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1268					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGTGTCAATGAAATACAAAA	0.328000													9	11					0	0	0.006214	0	0
MUC16	94025	broad.mit.edu	37	19	9067342	9067342	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9067342G>A	ENST00000397910.4	-	3	20307	c.20104C>T	c.(20104-20106)Cca>Tca	p.P6702S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6704	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						TCAGGGCCTGGAATGGATGTT	0.478000													59	148					0	0	0.014410	0	0
OR11G2	390439	broad.mit.edu	37	14	20666271	20666271	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:20666271C>T	ENST00000357366.3	+	1	777	c.777C>T	c.(775-777)gtC>gtT	p.V259V		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V259V(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ATGCTCTGGTCGTGAGAGCTG	0.507000													36	163					0	0	0.006230	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37126523	37126523	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:37126523C>T	ENST00000336755.5	+	2	300	c.194C>T	c.(193-195)tCg>tTg	p.S65L	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000322831.6_Missense_Mutation_p.S64L	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	65				S -> P (in Ref. 4; AAH22434).			nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		TCGGAATCTTCGAGTAGTAAA	0.418000													20	69					0	0	0.010504	0	0
MCF2	4168	broad.mit.edu	37	X	138729051	138729051	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:138729051T>C	ENST00000520602.1	-	3	322	c.37A>G	c.(37-39)Aag>Gag	p.K13E	MCF2_ENST00000414978.1_Missense_Mutation_p.K13E|MCF2_ENST00000370578.4_Missense_Mutation_p.K98E|MCF2_ENST00000519895.1_Missense_Mutation_p.K13E			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	0	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GCATTGTCCTTTCCCCGGCCA	0.333000													6	5					0	0	0.004482	0	0
TMC7	79905	broad.mit.edu	37	16	19032967	19032967	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:19032967G>A	ENST00000421369.3	+	4	705	c.147G>A	c.(145-147)ggG>ggA	p.G49G	TMC7_ENST00000569532.1_Silent_p.G159G|TMC7_ENST00000304381.5_Silent_p.G159G	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	159						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TTGGCACTGGGATTCAGTCCT	0.418000													12	56					0	0	0.002450	0	0
OR10A4	283297	broad.mit.edu	37	11	6897966	6897966	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:6897966C>T	ENST00000379829.2	+	1	111	c.88C>T	c.(88-90)Ctc>Ttc	p.L30F		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCTACTGTTTCTCCTTTTCTT	0.443000													48	79					0	0	0.014410	0	0
MRGPRD	116512	broad.mit.edu	37	11	68747504	68747504	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:68747504C>T	ENST00000309106.3	-	1	951	c.952G>A	c.(952-954)Gag>Aag	p.E318K		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	318						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCCCCCATCTCATTGGTGCCC	0.687000													25	41					0	0	0.003954	0	0
NMUR2	56923	broad.mit.edu	37	5	151771986	151771986	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:151771986G>A	ENST00000255262.3	-	4	1179	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	338					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			TCACATTCTGGAATGCTGCCT	0.502000													24	73					0	0	0.008361	0	0
OR2G6	391211	broad.mit.edu	37	1	248685266	248685266	+	Silent	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248685266T>C	ENST00000343414.4	+	1	351	c.319T>C	c.(319-321)Ttg>Ctg	p.L107L		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCCATGGGGTTGGGCTCGTC	0.542000													29	83					0	0	0.003271	0	0
PTCHD2	57540	broad.mit.edu	37	1	11596669	11596669	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:11596669C>T	ENST00000304391.6	+	5	882	c.764C>T	c.(763-765)cCt>cTt	p.P255L	PTCHD2_ENST00000294484.6_Silent_p.L1369L|PTCHD2_ENST00000389575.3_Silent_p.L1369L			Q9P2K9	PTHD2_HUMAN	patched domain containing 2	0					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGCAGGGGCCCTGGGGCTGGG	0.682000													9	10					0	0	0.006214	0	0
KSR2	283455	broad.mit.edu	37	12	117992998	117992998	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:117992998G>A	ENST00000425217.1	-	9	1461	c.1407C>T	c.(1405-1407)ctC>ctT	p.L469L	KSR2_ENST00000302438.5_Silent_p.L195L|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Silent_p.L498L	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	498					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGTTTTGGGGAGCGTCTGAC	0.567000													11	9					0	0	0.010729	0	0
ADCY10	55811	broad.mit.edu	37	1	167814809	167814809	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:167814809C>T	ENST00000367848.1	-	21	3220	c.2723G>A	c.(2722-2724)gGa>gAa	p.G908E	ADCY10_ENST00000367851.4_Missense_Mutation_p.G1000E|ADCY10_ENST00000545172.1_Missense_Mutation_p.G847E|ADCY10_ENST00000485964.1_5'UTR			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1000					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACTTTTAAATCCATGAGACAT	0.408000													9	31					0	0	0.004482	0	0
TOPORS	10210	broad.mit.edu	37	9	32541428	32541428	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:32541428G>A	ENST00000360538.2	-	3	3211	c.3095C>T	c.(3094-3096)tCa>tTa	p.S1032L	TOPORS_ENST00000379858.1_Missense_Mutation_p.S967L	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	1032					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)		TGACATTAATGATGTCCGTGG	0.388000													4	39					0	0	0.000602	0	0
ITIH5	80760	broad.mit.edu	37	10	7679266	7679266	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:7679266C>T	ENST00000256861.6	-	5	655	c.577G>A	c.(577-579)Gag>Aag	p.E193K	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.E193K|ITIH5_ENST00000397145.2_Missense_Mutation_p.E193K|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	193					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CCCGCGCTCTCCAGGATATTC	0.662000													9	50					0	0	0.004482	0	0
SORCS1	114815	broad.mit.edu	37	10	108366964	108366964	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:108366964G>A	ENST00000263054.6	-	23	3132	c.3125C>T	c.(3124-3126)cCa>cTa	p.P1042L	SORCS1_ENST00000344440.6_Missense_Mutation_p.P1042L|SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000369698.1_Missense_Mutation_p.P577L	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1042						integral to membrane	neuropeptide receptor activity|protein binding			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)		TTCTCCAGCTGGATCCTGATA	0.542000													11	35					0	0	0.008291	0	0
VAV1	7409	broad.mit.edu	37	19	6853061	6853061	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:6853061C>T	ENST00000304076.2	+	24	2331	c.2237C>T	c.(2236-2238)cCt>cTt	p.P746L	VAV1_ENST00000539284.1_Missense_Mutation_p.P671L|VAV1_ENST00000602142.1_Missense_Mutation_p.P768L|VAV1_ENST00000599806.1_Missense_Mutation_p.P713L|VAV1_ENST00000596764.1_Missense_Mutation_p.P736L	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	768	SH2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TTCAAGGAGCCTGAAAAGAGA	0.547000													17	32					0	0	0.008871	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274273	103274273	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:103274273T>A	ENST00000233969.2	+	2	682	c.540T>A	c.(538-540)aaT>aaA	p.N180K		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	180						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CACTTTGGAATTCCATTGGCA	0.502000													50	143					0	0	0.014410	0	0
TNR	7143	broad.mit.edu	37	1	175375479	175375479	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:175375479G>A	ENST00000367674.1	-	3	1080	c.372C>T	c.(370-372)gcC>gcT	p.A124A	TNR_ENST00000263525.2_Silent_p.A124A	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	124					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CACATGGACAGGCCTTTTTGG	0.587000													24	54					0	0	0.006320	0	0
CRB1	23418	broad.mit.edu	37	1	197326022	197326022	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:197326022C>T	ENST00000367400.3	+	5	1185	c.1050C>T	c.(1048-1050)tcC>tcT	p.S350S	CRB1_ENST00000535699.1_Silent_p.S281S|CRB1_ENST00000538660.1_Silent_p.S350S|CRB1_ENST00000543483.1_Silent_p.S49S|CRB1_ENST00000367399.2_Silent_p.S238S	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	350	EGF-like 9.				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						CCTGCCAGTCCAATGGGGAAT	0.473000													20	36					0	0	0.007413	0	0
PRDM1	639	broad.mit.edu	37	6	106546964	106546964	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:106546964G>A	ENST00000369089.3	+	1	150	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	PRDM1_ENST00000369091.2_Intron|PRDM1_ENST00000369096.4_Intron	NM_182907.2	NP_878911.1	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	0					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AACTGAAATGGAAAAGGTAAC	0.378000			"""D, N, Mis, F, S"""		DLBCL								5	12					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179638298	179638298	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179638298C>T	ENST00000589042.1	-	32	7709	c.7485G>A	c.(7483-7485)gtG>gtA	p.V2495V	TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000460472.2_Silent_p.V2449V|TTN_ENST00000360870.5_Silent_p.V2495V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.V2449V|TTN_ENST00000342992.6_Silent_p.V2495V|TTN_ENST00000342175.6_Silent_p.V2449V|TTN_ENST00000591111.1_Silent_p.V2495V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2224	Ig-like 14.						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)			TAGTACCTTTCACAATGGCCT	0.428000													20	35					0	0	0.012319	0	0
TLN2	83660	broad.mit.edu	37	15	63089531	63089531	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:63089531C>T	ENST00000561311.1	+	47	6394	c.6164C>T	c.(6163-6165)aCc>aTc	p.T2055I	TLN2_ENST00000306829.6_Missense_Mutation_p.T2055I			Q9Y4G6	TLN2_HUMAN	talin 2	2055					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCAGCAGCCACCATCACCCAG	0.647000													21	33					0	0	0.010504	0	0
SLC39A4	55630	broad.mit.edu	37	8	145641426	145641426	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:145641426C>T	ENST00000276833.5	-	1	470	c.167G>A	c.(166-168)gGg>gAg	p.G56E	SLC39A4_ENST00000301305.3_Missense_Mutation_p.G81E	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	81						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CGGGGGCAGCCCTGACCCCTC	0.726000													6	9					0	0	0.003080	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100496634	100496634	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:100496634G>A	ENST00000279907.7	-	4	460	c.246_splice	c.e4-1	p.S83_splice	UHRF1BP1L_ENST00000356828.3_Splice_Site_p.S83_splice	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	83								p.S83C(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTTATCCAGGGACTAATAAAA	0.294000													26	10					0	0	0.003330	0	0
NLRP4	147945	broad.mit.edu	37	19	56369963	56369963	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:56369963C>T	ENST00000301295.6	+	3	1626	c.1204C>T	c.(1204-1206)Ctg>Ttg	p.L402L	NLRP4_ENST00000587891.1_Silent_p.L327L|NLRP4_ENST00000346986.5_Silent_p.L402L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	402	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCTGTGCTCCCTGGCTGCAGA	0.572000													35	72					0	0	0.007835	0	0
ACSL5	51703	broad.mit.edu	37	10	114176735	114176735	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:114176735C>T	ENST00000393081.1	+	13	1480	c.1173C>T	c.(1171-1173)atC>atT	p.I391I	RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000433418.1_Silent_p.I391I|ACSL5_ENST00000354655.4_Silent_p.I391I|ACSL5_ENST00000356116.1_Silent_p.I447I|ACSL5_ENST00000369410.3_Silent_p.I173I|ACSL5_ENST00000354273.4_Silent_p.I391I	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	391					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		AGGGTATCATCAGGCATGATA	0.473000													9	27					0	0	0.006214	0	0
TADA1	117143	broad.mit.edu	37	1	166831522	166831522	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:166831522C>T	ENST00000367874.4	-	5	551	c.458G>A	c.(457-459)gGg>gAg	p.G153E	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	153					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						TATCATTCTCCCTTCAAGCTG	0.502000													26	65					0	0	0.006320	0	0
COL7A1	1294	broad.mit.edu	37	3	48619179	48619179	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:48619179G>A	ENST00000328333.8	-	48	4789	c.4682C>T	c.(4681-4683)cCc>cTc	p.P1561L	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1561L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1561	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGCCCAGCGGGCCCCACATC	0.577000													18	114					0	0	0.006122	0	0
MAPK10	5602	broad.mit.edu	37	4	87019693	87019693	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:87019693G>A	ENST00000395169.3	-	9	1392	c.672C>T	c.(670-672)ctC>ctT	p.L224L	MAPK10_ENST00000359221.3_Silent_p.L262L|MAPK10_ENST00000395157.3_Silent_p.L117L|MAPK10_ENST00000449047.2_Intron|MAPK10_ENST00000395166.1_Silent_p.L224L|MAPK10_ENST00000395160.3_Silent_p.L117L|MAPK10_ENST00000361569.2_Silent_p.L262L|MAPK10_ENST00000395161.2_Silent_p.L262L	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	262	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		TTCCTGGAAAGAGGATTTTGT	0.413000													35	28					0	0	0.008740	0	0
ROBO2	6092	broad.mit.edu	37	3	77644301	77644301	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:77644301C>T	ENST00000461745.1	+	18	3592	c.2692C>T	c.(2692-2694)Caa>Taa	p.Q898*	ROBO2_ENST00000487694.3_Nonsense_Mutation_p.Q914*|ROBO2_ENST00000332191.8_Nonsense_Mutation_p.Q898*	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	898					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGTTACGTTTCAAAGAGGAGA	0.318000													7	29					0	0	0.006214	0	0
TRPV6	55503	broad.mit.edu	37	7	142575515	142575515	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142575515C>T	ENST00000359396.3	-	3	483	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	80					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AGCGCTGTTTCCCCCATGGCT	0.567000													39	81					0	0	0.008740	0	0
MCM3	4172	broad.mit.edu	37	6	52141185	52141185	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:52141185G>A	ENST00000596288.1	-	9	1417	c.1390C>T	c.(1390-1392)Cgc>Tgc	p.R464C	MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Missense_Mutation_p.R373C|MCM3_ENST00000229854.7_Missense_Mutation_p.R419C	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	419	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					ATGGCTGTGCGATCCATGTCA	0.567000													4	23					0	0	0.009096	0	0
IGSF9	57549	broad.mit.edu	37	1	159898388	159898388	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:159898388G>A	ENST00000368094.1	-	19	2987	c.2790C>T	c.(2788-2790)ccC>ccT	p.P930P	IGSF9_ENST00000361509.3_Silent_p.P914P|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	930	Pro-rich.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CTCGGAAGAAGGGCAGGCTCA	0.642000													4	16					0	0	0.009096	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033237	82033237	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:82033237C>T	ENST00000328945.5	-	3	788	c.661G>A	c.(661-663)Gag>Aag	p.E221K		NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	221					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						TGGACAAACTCAACCAGGCTC	0.537000													42	58					0	0	0.008740	0	0
OBSCN	84033	broad.mit.edu	37	1	228529196	228529196	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:228529196G>A	ENST00000570156.2	+	85	20860	c.20786G>A	c.(20785-20787)tGg>tAg	p.W6929*	OBSCN_ENST00000422127.1_Nonsense_Mutation_p.W5972*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.W3606*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.W5972*|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.W3091*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5972					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TTCGAGGTGTGGCAGGAGCGG	0.642000													15	24					0	0	0.003163	0	0
KIF13B	23303	broad.mit.edu	37	8	29043831	29043831	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:29043831G>A	ENST00000524189.1	-	6	513	c.475C>T	c.(475-477)Cga>Tga	p.R159*	KIF13B_ENST00000521515.1_Nonsense_Mutation_p.R159*	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	159	Kinesin-motor.				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AGAAGGTCTCGAACTTTTTCA	0.353000													49	92					0	0	0.014410	0	0
FRMPD1	22844	broad.mit.edu	37	9	37745262	37745262	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:37745262C>T	ENST00000539465.1	+	16	3826	c.3233C>T	c.(3232-3234)cCt>cTt	p.P1078L	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.P1078L			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1078						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TTGTTGTCTCCTAGAGATGAG	0.428000													15	60					0	0	0.004007	0	0
CLSTN2	64084	broad.mit.edu	37	3	139894845	139894845	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:139894845G>A	ENST00000458420.3	+	2	352	c.162G>A	c.(160-162)gaG>gaA	p.E54E		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	54	Cadherin 1.				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						TCATAACTGAGAACAATGACA	0.423000										HNSCC(16;0.037)			21	30					0	0	0.002780	0	0
FAM78B	149297	broad.mit.edu	37	1	166039757	166039757	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:166039757G>A	ENST00000338353.3	-	3	1096	c.507C>T	c.(505-507)ttC>ttT	p.F169F	FAM78B_ENST00000354422.3_Silent_p.F169F			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	169										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					GCCAGGTCGTGAAACTTTGGT	0.507000													47	86					0	0	0.014410	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408164	105408164	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:105408164G>A	ENST00000333244.5	-	7	13743	c.13624C>T	c.(13624-13626)Ctc>Ttc	p.L4542F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4542						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCCCTTTGAGGCCGGCTACC	0.632000													28	121					0	0	0.005443	0	0
NPY4R	5540	broad.mit.edu	37	10	47087060	47087060	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:47087060C>T	ENST00000374312.1	+	3	696	c.277C>T	c.(277-279)Ctc>Ttc	p.L93F	NPY4R_ENST00000395716.1_Missense_Mutation_p.L93F	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		CATGTGCCTCCTCTGCCAGCC	0.562000													10	77					0	0	0.006214	0	0
ZIM3	114026	broad.mit.edu	37	19	57649931	57649931	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:57649931G>A	ENST00000269834.1	-	3	436	c.51C>T	c.(49-51)ttC>ttT	p.F17F		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	17	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCCCTGGGTGAAGTTCACAG	0.493000													30	56					0	0	0.003755	0	0
NUP210	23225	broad.mit.edu	37	3	13381426	13381426	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:13381426G>A	ENST00000254508.5	-	25	3481	c.3399C>T	c.(3397-3399)atC>atT	p.I1133I	NUP210_ENST00000485755.1_5'UTR	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1133					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGCCGTTCCCGATGGCGAGGC	0.622000													29	134					0	0	0.010818	0	0
SPG11	80208	broad.mit.edu	37	15	44876629	44876629	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:44876629G>A	ENST00000261866.7	-	30	5265	c.5249C>T	c.(5248-5250)tCc>tTc	p.S1750F	SPG11_ENST00000558319.1_Missense_Mutation_p.S1750F|SPG11_ENST00000535302.2_Missense_Mutation_p.S1750F|SPG11_ENST00000427534.2_Missense_Mutation_p.S1750F	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1750					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TGAGAAAAAGGAAGAAGCTGC	0.463000													9	29					0	0	0.006214	0	0
SRRM2	23524	broad.mit.edu	37	16	2815393	2815393	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:2815393C>T	ENST00000301740.8	+	11	5413	c.4864C>T	c.(4864-4866)Cct>Tct	p.P1622S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1622	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TGATTCCTCTCCTGAACCTAA	0.562000													16	32					0	0	0.004990	0	0
SEPT14	346288	broad.mit.edu	37	7	55863612	55863612	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:55863612C>T	ENST00000388975.3	-	10	1409	c.1293G>A	c.(1291-1293)aaG>aaA	p.K431K		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	431					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACTATTATTTCTTACGATGTT	0.373000													23	49					0	0	0.002780	0	0
EMR1	2015	broad.mit.edu	37	19	6904114	6904114	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:6904114C>T	ENST00000312053.4	+	8	907	c.870C>T	c.(868-870)ggC>ggT	p.G290G	EMR1_ENST00000381404.4_Silent_p.G238G|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000250572.8_Silent_p.G290G|EMR1_ENST00000381407.5_Silent_p.G149G	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	290	EGF-like 6; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ATGCCCTGGGCTCCTACAGCT	0.473000													14	38					0	0	0.004990	0	0
LONRF2	164832	broad.mit.edu	37	2	100911913	100911913	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:100911913C>T	ENST00000393437.3	-	8	2218	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	LONRF2_ENST00000409647.1_Missense_Mutation_p.E284K	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	527					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TCTGACATTTCTTCATCATAA	0.358000													26	48					0	0	0.007291	0	0
MUC16	94025	broad.mit.edu	37	19	9013882	9013882	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9013882C>T	ENST00000397910.4	-	33	38711	c.38508G>A	c.(38506-38508)ggG>ggA	p.G12836G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12838				Missing (in Ref. 3; AAK74120).	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						TCCCTGAGGTCCCAAGGTCCA	0.483000													10	22					0	0	0.013537	0	0
NOL4	8715	broad.mit.edu	37	18	31537330	31537330	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:31537330A>C	ENST00000261592.5	-	8	1685	c.1388T>G	c.(1387-1389)cTc>cGc	p.L463R	NOL4_ENST00000269185.4_Intron|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000538587.1_Missense_Mutation_p.L389R|NOL4_ENST00000535475.1_Intron|NOL4_ENST00000535384.1_Missense_Mutation_p.L178R	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	463						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GCAGGACTTGAGGTAAGTACG	0.438000													16	55					0	0	0.004990	0	0
RIMKLA	284716	broad.mit.edu	37	1	42880390	42880390	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:42880390G>A	ENST00000431473.3	+	5	1050	c.921G>A	c.(919-921)caG>caA	p.Q307Q		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	307					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CAAATAGGCAGACTGGAAAGA	0.517000													40	57					0	0	0.007835	0	0
NRXN3	9369	broad.mit.edu	37	14	79175599	79175599	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:79175599C>T	ENST00000554719.1	+	4	633	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C	NRXN3_ENST00000335750.5_Missense_Mutation_p.R48C|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					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)		GGAGCTGTCTCGCCTGGCCCG	0.458000													23	34					0	0	0.010818	0	0
OR51F1	256892	broad.mit.edu	37	11	4790871	4790871	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:4790871C>T	ENST00000380383.1	-	1	297	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	OR51F1_ENST00000343430.3_Missense_Mutation_p.E93K|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	93						integral to membrane	olfactory receptor activity	p.E93K(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGACTGATTTCACGTGCCTCA	0.423000													12	22					0	0	0.001855	0	0
CDH8	1006	broad.mit.edu	37	16	61851631	61851631	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:61851631C>T	ENST00000577390.1	-	7	1983	c.1029G>A	c.(1027-1029)ctG>ctA	p.L343L	CDH8_ENST00000299345.6_Silent_p.L343L|CDH8_ENST00000584337.1_Silent_p.L343L|CDH8_ENST00000577730.1_Silent_p.L343L	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	343	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCTCAAAGTCCAGAGGCTGTT	0.433000													11	24					0	0	0.002450	0	0
GFRA2	2675	broad.mit.edu	37	8	21562498	21562498	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:21562498G>A	ENST00000524240.1	-	6	1694	c.1045_splice	c.e6+1	p.L348_splice	GFRA2_ENST00000518077.1_Splice_Site_p.L215_splice|GFRA2_ENST00000517328.1_Splice_Site_p.L348_splice|GFRA2_ENST00000400782.4_Splice_Site_p.L243_splice	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	348						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		AGAACTTACGGAGGCATGGGT	0.612000													6	16					0	0	0.003080	0	0
MXRA5	25878	broad.mit.edu	37	X	3238430	3238430	+	Missense_Mutation	SNP	G	G	A	rs34070401		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:3238430G>A	ENST00000217939.6	-	5	5450	c.5296C>T	c.(5296-5298)Cca>Tca	p.P1766S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1766						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TAGGAACCTGGAATAACTTTT	0.522000													18	11					0	0	0.012319	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119938929	119938929	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:119938929G>A	ENST00000297350.4	-	4	999	c.621C>T	c.(619-621)ttC>ttT	p.F207F		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	207	Death 1.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CAGCAAACCTGAAGAATGCCT	0.403000													9	17					0	0	0.004482	0	0
FILIP1	27145	broad.mit.edu	37	6	76022532	76022532	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:76022532G>A	ENST00000393004.2	-	5	3237	c.3016C>T	c.(3016-3018)Cct>Tct	p.P1006S	FILIP1_ENST00000237172.7_Missense_Mutation_p.P1006S|FILIP1_ENST00000370020.1_Missense_Mutation_p.P907S|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1006										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						ATCTGAATAGGGGATGTGGGC	0.507000													27	67					0	0	0.007291	0	0
P2RY2	5029	broad.mit.edu	37	11	72945458	72945458	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:72945458C>T	ENST00000311131.2	+	3	721	c.254C>T	c.(253-255)tCc>tTc	p.S85F	P2RY2_ENST00000393596.2_Missense_Mutation_p.S85F|P2RY2_ENST00000393597.2_Missense_Mutation_p.S85F	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	85					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	TATGCGGCCTCCCTGCCGCTG	0.587000													5	47					0	0	0.000602	0	0
PTPRN	5798	broad.mit.edu	37	2	220168539	220168539	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:220168539C>T	ENST00000295718.2	-	4	535	c.295G>A	c.(295-297)Gat>Aat	p.D99N	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.D9N|PTPRN_ENST00000409251.3_Missense_Mutation_p.D99N	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	99					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)		GTGAGGTCATCGTGCCAGGAC	0.577000													13	15					0	0	0.013537	0	0
CMYA5	202333	broad.mit.edu	37	5	79026948	79026948	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:79026948G>A	ENST00000446378.2	+	2	2391	c.2360G>A	c.(2359-2361)gGa>gAa	p.G787E		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	787						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)		GAGGACCTAGGAAGTGAACGT	0.468000													13	27					0	0	0.001855	0	0
FBXO41	150726	broad.mit.edu	37	2	73490898	73490898	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:73490898G>A	ENST00000521871.1	-	8	2398	c.1983C>T	c.(1981-1983)atC>atT	p.I661I	FBXO41_ENST00000520530.2_Silent_p.I661I|FBXO41_ENST00000295133.5_Silent_p.I722I			Q8TF61	FBX41_HUMAN	F-box protein 41	661						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						AGATGCGCAGGATCAGCAGGT	0.642000													23	46					0	0	0.003330	0	0
DHX57	90957	broad.mit.edu	37	2	39088456	39088456	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:39088456G>A	ENST00000295373.6	-	5	1222	c.1096C>T	c.(1096-1098)Ccc>Tcc	p.P366S	DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	366							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GCTTGGTAGGGATATTTGTGG	0.363000													5	25					0	0	0.000602	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885275	88885275	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:88885275C>T	ENST00000319675.3	-	1	1021	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	309										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						ACATGACCTTCGTACTGTGTT	0.517000													12	34					0	0	0.013537	0	0
USP6	9098	broad.mit.edu	37	17	5042816	5042816	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:5042816C>T	ENST00000574788.1	+	22	3575	c.1345C>T	c.(1345-1347)Ctg>Ttg	p.L449L	USP6_ENST00000250066.6_Silent_p.L449L|USP6_ENST00000332776.4_Silent_p.L449L|USP6_ENST00000304328.5_Silent_p.L132L			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	449					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTGGAGATTCCTGGAGTGGAA	0.617000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								26	25					0	0	0.009535	0	0
HMGB4	127540	broad.mit.edu	37	1	34330148	34330148	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:34330148C>T	ENST00000522796.1	+	4	2261	c.356C>T	c.(355-357)tCg>tTg	p.S119L	HMGB4_ENST00000519684.1_Missense_Mutation_p.S119L|HMGB4_ENST00000425537.1_3'UTR|CSMD2_ENST00000373381.4_Intron			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	119						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCGAACTGGTCGGTGGTGCAG	0.567000													32	42					0	0	0.010818	0	0
LIN28B	389421	broad.mit.edu	37	6	105474336	105474336	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:105474336A>T	ENST00000345080.4	+	3	565	c.362A>T	c.(361-363)aAa>aTa	p.K121I		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	121					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				ACACTACAGAAAAGAAAACCA	0.373000													27	53					0	0	0.005443	0	0
BANF2	140836	broad.mit.edu	37	20	17716333	17716333	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:17716333C>T	ENST00000246090.5	+	4	412	c.150C>T	c.(148-150)ttC>ttT	p.F50F	BANF2_ENST00000467330.1_3'UTR|BANF2_ENST00000545418.2_Silent_p.F57F|BANF2_ENST00000377805.3_Silent_p.F50F	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN	barrier to autointegration factor 2	50						cytoplasm|nucleus	DNA binding			large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						TGGGACAATTCCTTCTGATGC	0.542000													17	67					0	0	0.008871	0	0
RHOU	58480	broad.mit.edu	37	1	228879409	228879409	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:228879409G>A	ENST00000366691.3	+	3	1365	c.699G>A	c.(697-699)aaG>aaA	p.K233K		NM_021205.5	NP_067028.1	Q7L0Q8	RHOU_HUMAN	ras homolog family member U	233					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				AACAGCCAAAGAAGTCTAAAA	0.458000													47	74					0	0	0.014410	0	0
TENM4	26011	broad.mit.edu	37	11	78380134	78380134	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:78380134C>T	ENST00000278550.7	-	32	7718	c.7256G>A	c.(7255-7257)cGa>cAa	p.R2419Q		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		ATCATAATCTCGCCGGCCCAT	0.517000													4	15					0	0	0.009096	0	0
EPHA6	285220	broad.mit.edu	37	3	96706372	96706372	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:96706372G>A	ENST00000389672.5	+	3	687	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	EPHA6_ENST00000542517.1_Missense_Mutation_p.E123K|EPHA6_ENST00000470610.2_Missense_Mutation_p.E217K	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	122						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GACTTGCAAAGAAACATTTAA	0.398000													23	74					0	0	0.014323	0	0
TECTA	7007	broad.mit.edu	37	11	120984337	120984337	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:120984337C>T	ENST00000392793.1	+	6	971	c.700C>T	c.(700-702)Cag>Tag	p.Q234*	TECTA_ENST00000264037.2_Nonsense_Mutation_p.Q234*			O75443	TECTA_HUMAN	tectorin alpha	234	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CGTGAATATCCAGGAGACCAC	0.493000													4	31					0	0	0.009096	0	0
GPR84	53831	broad.mit.edu	37	12	54756450	54756450	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:54756450G>A	ENST00000551809.1	-	1	1821	c.1186C>T	c.(1186-1188)Cat>Tat	p.H396Y	GPR84_ENST00000267015.3_Missense_Mutation_p.H396Y|RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	396						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CAGTTCTAATGGAGCCTATGG	0.493000													71	148					0	0	0.014410	0	0
FAM194A	131831	broad.mit.edu	37	3	150396255	150396255	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:150396255G>A	ENST00000295910.6	-	10	1250	c.1198C>T	c.(1198-1200)Caa>Taa	p.Q400*	FAM194A_ENST00000491361.1_Nonsense_Mutation_p.Q254*	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	400										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTTCTTAGTTGAAAATCAAAT	0.289000													5	38					0	0	0.000602	0	0
PVRL4	81607	broad.mit.edu	37	1	161044424	161044424	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:161044424G>A	ENST00000368012.3	-	5	1279	c.977C>T	c.(976-978)tCt>tTt	p.S326F	PVRL4_ENST00000453926.2_Missense_Mutation_p.S60F	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	326	Ig-like C2-type 2.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGTGACCTGAGAATCCCTTGA	0.557000													35	43					0	0	0.007835	0	0
PCSK1	5122	broad.mit.edu	37	5	95734703	95734703	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:95734703G>A	ENST00000311106.3	-	11	1705	c.1468C>T	c.(1468-1470)Cca>Tca	p.P490S	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Missense_Mutation_p.P443S	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	490					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)	GCTCTTGTTGGAATTTCAATG	0.358000													5	10					0	0	0.001168	0	0
LRRC32	2615	broad.mit.edu	37	11	76371827	76371827	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:76371827C>T	ENST00000407242.2	-	3	1052	c.810G>A	c.(808-810)ctG>ctA	p.L270L	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Silent_p.L270L|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Silent_p.L270L	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	270						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TGGACAAGTTCAGGTAGATGA	0.642000													8	59					0	0	0.006214	0	0
SATB1	6304	broad.mit.edu	37	3	18393507	18393507	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:18393507G>A	ENST00000338745.6	-	10	3490	c.1756C>T	c.(1756-1758)Cat>Tat	p.H586Y	SATB1_ENST00000454909.2_Missense_Mutation_p.H586Y|SATB1_ENST00000417717.2_Missense_Mutation_p.H586Y|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	586					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GCTGGAACATGGATAATGTGG	0.468000													37	87					0	0	0.013114	0	0
ZNF852	285346	broad.mit.edu	37	3	44541329	44541329	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:44541329G>A	ENST00000436261.1	-	4	1100	c.940C>T	c.(940-942)Ctc>Ttc	p.L314F	ZNF852_ENST00000489411.1_5'UTR			B6EU87	B6EU87_HUMAN	zinc finger protein 852	314					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)	8						TGGTCAATGAGATTTCTATTG	0.403000													9	28					0	0	0.006214	0	0
ENAM	10117	broad.mit.edu	37	4	71510536	71510536	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:71510536G>A	ENST00000396073.3	+	9	3674	c.3393G>A	c.(3391-3393)caG>caA	p.Q1131Q	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1131					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CCAATGTACAGGACCAGGTAC	0.423000													7	19					0	0	0.004482	0	0
ZNF28	7576	broad.mit.edu	37	19	53304598	53304598	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:53304598G>A	ENST00000438150.2	-	2	1234	c.341C>T	c.(340-342)tCt>tTt	p.S114F	ZNF28_ENST00000360272.4_Missense_Mutation_p.S114F|ZNF28_ENST00000414252.2_Missense_Mutation_p.S114F|ZNF28_ENST00000457749.2_Missense_Mutation_p.S167F			P17035	ZNF28_HUMAN	zinc finger protein 28	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ATTGTTGATAGACTTCTCAAC	0.368000													25	117					0	0	0.005443	0	0
FAM73B	84895	broad.mit.edu	37	9	131802941	131802941	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:131802941C>T	ENST00000277475.5	+	2	254	c.68C>T	c.(67-69)cCc>cTc	p.P23L	FAM73B_ENST00000406926.2_Missense_Mutation_p.P23L|FAM73B_ENST00000474534.1_3'UTR|FAM73B_ENST00000358369.4_Missense_Mutation_p.P23L			Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	23						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						GCCGAGATCCCCGTGTTCCTG	0.612000													8	55					0	0	0.013537	0	0
TOX3	27324	broad.mit.edu	37	16	52502482	52502482	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:52502482C>T	ENST00000219746.9	-	2	376	c.92G>A	c.(91-93)gGa>gAa	p.G31E	TOX3_ENST00000407228.3_Missense_Mutation_p.G27E	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	31					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						ATTATTATTTCCAAACTGAAA	0.363000													4	63					0	0	0.009096	0	0
MRGPRE	116534	broad.mit.edu	37	11	3249928	3249928	+	Silent	SNP	G	G	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:3249928G>C	ENST00000389832.5	-	2	408	c.102C>G	c.(100-102)ctC>ctG	p.L34L	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.L33L			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	33						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACCGAGGCCGAGCCCCTCGG	0.647000													23	48					0	0	0.003954	0	0
SLC28A2	9153	broad.mit.edu	37	15	45561668	45561668	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:45561668C>T	ENST00000347644.3	+	14	1566	c.1501C>T	c.(1501-1503)Caa>Taa	p.Q501*	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	501					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		GCAACTGTCTCAATACAAGAA	0.433000													16	27					0	0	0.003163	0	0
FAM171B	165215	broad.mit.edu	37	2	187626958	187626958	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:187626958C>T	ENST00000304698.5	+	8	2092	c.1889C>T	c.(1888-1890)tCc>tTc	p.S630F		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	630						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TTACTGGAATCCGTCTCTGTT	0.488000													18	62					0	0	0.008871	0	0
CYP4A22	284541	broad.mit.edu	37	1	47603166	47603166	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:47603166C>T	ENST00000371891.3	+	1	40	c.9C>T	c.(7-9)gtC>gtT	p.V3V	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Silent_p.V3V|CYP4A22_ENST00000294337.3_Silent_p.V3V	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	3						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCATGAGTGTCTCTGTCCTGA	0.602000													26	66					0	0	0.005443	0	0
SNRNP200	23020	broad.mit.edu	37	2	96944689	96944689	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:96944689G>A	ENST00000323853.5	-	37	5258	c.5181C>T	c.(5179-5181)caC>caT	p.H1727H	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1727	Helicase C-terminal 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						AGTGGTCCAGGTGAGATTCTA	0.458000													14	56					0	0	0.003163	0	0
DAZAP1	26528	broad.mit.edu	37	19	1434803	1434803	+	Silent	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:1434803C>A	ENST00000233078.4	+	12	1277	c.1116C>A	c.(1114-1116)tcC>tcA	p.S372S	DAZAP1_ENST00000336761.6_3'UTR	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	372	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		AGCCTCCTTCCTACGGGGGTC	0.687000													11	33					0.00136819	0.00147908	0.013537	1	0
MUC17	140453	broad.mit.edu	37	7	100683951	100683951	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100683951C>T	ENST00000306151.4	+	3	9318	c.9254C>T	c.(9253-9255)tCa>tTa	p.S3085L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3085	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S3085*(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGTCAGTTCATCTCCTACA	0.522000													66	185					0	0	0.014410	0	0
CALB2	794	broad.mit.edu	37	16	71423714	71423714	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:71423714G>A	ENST00000302628.4	+	11	839	c.762G>A	c.(760-762)ggG>ggA	p.G254G	CALB2_ENST00000349553.5_3'UTR	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	254	EF-hand 6.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				CAGAGGCAGGGAAGCTCTACC	0.552000													20	105					0	0	0.010504	0	0
GDAP1L1	78997	broad.mit.edu	37	20	42907894	42907894	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:42907894G>A	ENST00000342560.5	+	6	1146	c.1058G>A	c.(1057-1059)gGg>gAg	p.G353E	GDAP1L1_ENST00000537864.1_Missense_Mutation_p.G161E	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	353										endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCCCTGGGTGGGATGGGCTAC	0.577000													51	84					0	0	0.014410	0	0
SLC2A9	56606	broad.mit.edu	37	4	9828112	9828112	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:9828112C>T	ENST00000506583.1	-	14	1662	c.1445G>A	c.(1444-1446)aGc>aAc	p.S482N	SLC2A9_ENST00000264784.3_Missense_Mutation_p.S511N|SLC2A9_ENST00000309065.3_Missense_Mutation_p.S482N			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	511					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						AAATGCCTGGCTGATTTCTGC	0.418000													36	43					0	0	0.013726	0	0
SALL1	6299	broad.mit.edu	37	16	51172967	51172967	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:51172967G>A	ENST00000440970.1	-	2	3306	c.2875C>T	c.(2875-2877)Ctg>Ttg	p.L959L	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Silent_p.L1056L	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1056					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGGATGGCAGATCTCGCATC	0.478000													12	23					0	0	0.010729	0	0
SPDYC	387778	broad.mit.edu	37	11	64939997	64939997	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:64939997G>A	ENST00000377185.2	+	5	519	c.437G>A	c.(436-438)gGg>gAg	p.G146E		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	146	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						TTACGAGTGGGGAAATTCCTG	0.567000													17	61					0	0	0.004007	0	0
WDR96	80217	broad.mit.edu	37	10	105923860	105923860	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:105923860C>T	ENST00000357060.3	-	24	3353	c.3238G>A	c.(3238-3240)Gat>Aat	p.D1080N	WDR96_ENST00000428666.1_Missense_Mutation_p.D1081N	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1080										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACCTCCTCATCTTGCACAACA	0.443000													10	30					0	0	0.010729	0	0
ADAM2	2515	broad.mit.edu	37	8	39627020	39627020	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:39627020G>A	ENST00000265708.4	-	12	1206	c.1103C>T	c.(1102-1104)tCc>tTc	p.S368F	ADAM2_ENST00000521880.1_Missense_Mutation_p.S368F|ADAM2_ENST00000347580.4_Missense_Mutation_p.S349F|ADAM2_ENST00000379853.2_Missense_Mutation_p.S242F	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	368	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AAGACACTGGGACTTCTGCTT	0.423000													6	23					0	0	0.001168	0	0
ADCY5	111	broad.mit.edu	37	3	123022947	123022947	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:123022947G>A	ENST00000462833.1	-	13	3738	c.2526C>T	c.(2524-2526)atC>atT	p.I842I	ADCY5_ENST00000309879.5_Silent_p.I492I|ADCY5_ENST00000491190.1_Silent_p.I475I	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	842					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		ACACCAGGGTGATGGTGAACA	0.607000													9	20					0	0	0.010729	0	0
ELAVL2	1993	broad.mit.edu	37	9	23704986	23704986	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:23704986C>T	ENST00000397312.2	-	4	691	c.417G>A	c.(415-417)aaG>aaA	p.K139K	ELAVL2_ENST00000380117.1_Silent_p.K139K|ELAVL2_ENST00000380110.4_Silent_p.K168K|ELAVL2_ENST00000544538.1_Silent_p.K139K|ELAVL2_ENST00000223951.6_Silent_p.K139K	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	139	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GTTCCAACTCCTTCTGGGTCA	0.423000													31	55					0	0	0.008361	0	0
TMEM132A	54972	broad.mit.edu	37	11	60694698	60694698	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:60694698G>A	ENST00000005286.4	+	2	276	c.123G>A	c.(121-123)ctG>ctA	p.L41L	TMEM132A_ENST00000453848.2_Silent_p.L41L	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	41						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						AGGCTCCCCTGGACCCTGTCT	0.637000													41	57					0	0	0.013114	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68244434	68244434	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:68244434C>T	ENST00000347230.4	-	25	4954	c.4816G>A	c.(4816-4818)Gac>Aac	p.D1606N	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.D1606N	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1606					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		ATGGTGGGGTCAGGGATTCTT	0.498000													14	48					0	0	0.004007	0	0
MIR323A	442897	broad.mit.edu	37	14	101492091	101492091	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:101492091C>T	ENST00000362199.1	+	0	23					NR_029890.1																						GAGAGGTGGTCCGTGGCGCGT	0.532000													48	79					0	0	0.014410	0	0
COL20A1	57642	broad.mit.edu	37	20	61959771	61959771	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:61959771C>T	ENST00000422202.1	+	33	3809	c.3741C>T	c.(3739-3741)ccC>ccT	p.P1247P	COL20A1_ENST00000326996.6_Silent_p.P1266P|COL20A1_ENST00000358894.6_Silent_p.P1234P|COL20A1_ENST00000435874.1_Silent_p.P1247P			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1234					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCACTGAGCCCCTGGGGTCCC	0.657000													10	17					0	0	0.006214	0	0
CALML5	51806	broad.mit.edu	37	10	5541241	5541241	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:5541241G>A	ENST00000380332.3	-	1	292	c.161C>T	c.(160-162)tCc>tTc	p.S54F		NM_017422.4	NP_059118.2	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	54	EF-hand 2.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						GTCAACCTCGGAGATGAGTTT	0.647000													11	41					0	0	0.010729	0	0
C11orf45	219833	broad.mit.edu	37	11	128774390	128774390	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:128774390G>A	ENST00000310799.3	-	2	265	c.72C>T	c.(70-72)atC>atT	p.I24I	KCNJ5_ENST00000529694.1_Intron|C11orf45_ENST00000530168.1_5'UTR|C11orf45_ENST00000524878.1_Silent_p.I24I|KCNJ5_ENST00000338350.4_Intron	NM_001256088.1|NM_145013.2	NP_001243017.1|NP_659450.1	Q8TAV5	CK045_HUMAN	chromosome 11 open reading frame 45	24						extracellular region				endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2)	7	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		gctcccagctgatggcagcgt	0.587000													7	65					0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9019338	9019338	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9019338G>A	ENST00000397910.4	-	23	37752	c.37549C>T	c.(37549-37551)Cct>Tct	p.P12517S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12519					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						GAGGTCCCAGGAGCTGAGAAA	0.483000													13	18					0	0	0.004007	0	0
C6orf25	80739	broad.mit.edu	37	6	31692645	31692645	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:31692645G>A	ENST00000375810.4	+	5	704	c.664G>A	c.(664-666)Gga>Aga	p.G222R	C6orf25_ENST00000480039.1_Silent_p.G215G|C6orf25_ENST00000375805.2_Intron|C6orf25_ENST00000375809.3_Intron			O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						GATGGGAAGGGGATAGCCAGA	0.537000													67	156					0	0	0.014410	0	0
TGIF2	60436	broad.mit.edu	37	20	35219809	35219809	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:35219809C>T	ENST00000373874.2	+	3	888	c.689C>T	c.(688-690)cCt>cTt	p.P230L	TGIF2_ENST00000373872.4_Missense_Mutation_p.P230L|RP5-977B1.11_ENST00000561134.1_RNA|TGIF2-C20orf24_ENST00000558530.1_Intron	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	230	Repressive function.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				ACTCCCATCCCTTTAGTCTCT	0.552000													41	87					0	0	0.014410	0	0
SERPINB9	5272	broad.mit.edu	37	6	2890586	2890586	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:2890586G>A	ENST00000380698.4	-	7	1031	c.942C>T	c.(940-942)ttC>ttT	p.F314F		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	314					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TCTTGTGCACGAACTTGGACA	0.537000													10	73					0	0	0.008291	0	0
PDGFRA	5156	broad.mit.edu	37	4	55156585	55156585	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:55156585G>A	ENST00000257290.5	+	22	3317	c.2986G>A	c.(2986-2988)Gag>Aag	p.E996K	FIP1L1_ENST00000507166.1_Missense_Mutation_p.E756K	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	996			E -> K (in a metastatic melanoma sample; somatic mutation).		cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.E996K(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTACAAAAACGAGGAAGACAA	0.517000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			32	26					0	0	0.004289	0	0
SPEF2	79925	broad.mit.edu	37	5	35727890	35727890	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:35727890G>A	ENST00000440995.2	+	21	3013	c.3013G>A	c.(3013-3015)Gaa>Aaa	p.E1005K	SPEF2_ENST00000356031.3_Missense_Mutation_p.E1010K|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1010					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCCAGGATCAGAAGAATGGGT	0.423000													8	36					0	0	0.006214	0	0
CUBN	8029	broad.mit.edu	37	10	16948208	16948208	+	Nonsense_Mutation	SNP	G	G	A	rs137998687	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:16948208G>A	ENST00000377833.4	-	50	7971	c.7906C>T	c.(7906-7908)Cga>Tga	p.R2636*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2636	CUB 19.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCACCCACTCGAAACTCGAGG	0.363000													6	11					0	0	0.001168	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110451198	110451198	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:110451198G>A	ENST00000378402.5	+	32	3937	c.3833G>A	c.(3832-3834)gGa>gAa	p.G1278E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1278	IPT/TIG 6.				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)			GTGTATGTTGGAGGAAAAACC	0.343000										HNSCC(38;0.096)			13	45					0	0	0.013537	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938890	2938890	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:2938890G>A	ENST00000378404.2	+	1	845	c.640G>A	c.(640-642)Gac>Aac	p.D214N		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	214						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GGGTCTCGTGGACGACATCAA	0.642000													21	54					0	0	0.014323	0	0
NDUFS8	4728	broad.mit.edu	37	11	67800722	67800722	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:67800722A>C	ENST00000313468.5	+	5	451	c.344A>C	c.(343-345)aAg>aCg	p.K115T	NDUFS8_ENST00000528492.1_Intron	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	115	4Fe-4S ferredoxin-type 1.				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)	ATTGCCTGCAAGCTCTGCGAG	0.701000													3	18					0	0	0.004672	0	0
SEZ6L	23544	broad.mit.edu	37	22	26706748	26706748	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:26706748G>A	ENST00000529632.2	+	7	1823	c.1627G>A	c.(1627-1629)Gag>Aag	p.E543K	SEZ6L_ENST00000403121.1_Missense_Mutation_p.E316K|SEZ6L_ENST00000404234.3_Missense_Mutation_p.E543K|SEZ6L_ENST00000343706.4_Missense_Mutation_p.E543K|SEZ6L_ENST00000248933.6_Missense_Mutation_p.E543K|SEZ6L_ENST00000402979.1_Missense_Mutation_p.E316K|SEZ6L_ENST00000360929.3_Missense_Mutation_p.E543K	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	543	CUB 2.					endoplasmic reticulum membrane|integral to membrane		p.E543Q(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CATCCGCATCGAGTTCACGTC	0.597000													26	89					0	0	0.012213	0	0
CEACAM6	4680	broad.mit.edu	37	19	42266060	42266060	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:42266060C>T	ENST00000199764.6	+	4	1105	c.887C>T	c.(886-888)tCc>tTc	p.S296F	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	296	Ig-like C2-type 2.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		AATAGCGGATCCTATATGTGC	0.473000													18	44					0	0	0.008871	0	0
IQUB	154865	broad.mit.edu	37	7	123152009	123152009	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:123152009G>A	ENST00000466202.1	-	2	962	c.386C>T	c.(385-387)tCt>tTt	p.S129F	IQUB_ENST00000488987.1_Intron|IQUB_ENST00000324698.6_Missense_Mutation_p.S129F|IQUB_ENST00000434450.1_Missense_Mutation_p.S129F			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	129										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TGTTGCTAGAGAATCTTCCAC	0.343000													7	29					0	0	0.001984	0	0
SCGN	10590	broad.mit.edu	37	6	25701508	25701508	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:25701508G>A	ENST00000377961.2	+	11	944	c.776G>A	c.(775-777)gGa>gAa	p.G259E	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	259	EF-hand 6.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						AACAAGGATGGAAAAATTCAG	0.473000													22	41					0	0	0.012319	0	0
KEL	3792	broad.mit.edu	37	7	142638490	142638490	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142638490C>T	ENST00000355265.2	-	19	2522	c.2048G>A	c.(2047-2049)aGg>aAg	p.R683K		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	683					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCTGGGCTTCCTACACATCAC	0.607000													22	68					0	0	0.003330	0	0
SPATC1	375686	broad.mit.edu	37	8	145095983	145095983	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:145095983C>T	ENST00000377470.3	+	3	1383	c.1281C>T	c.(1279-1281)acC>acT	p.T427T	SPATC1_ENST00000447830.2_Silent_p.T427T	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	427										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCGCAAGACCAGCAAGTTCC	0.672000													9	25					0	0	0.008291	0	0
FOXO3	2309	broad.mit.edu	37	6	108984918	108984918	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:108984918C>T	ENST00000406360.1	+	2	1225	c.882C>T	c.(880-882)agC>agT	p.S294S	FOXO3_ENST00000343882.6_Silent_p.S294S|FOXO3_ENST00000540898.1_Silent_p.S74S	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN	forkhead box O3	294				PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 5; CAA04860).	antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		GGCCTGGCAGCCCCACGTCAC	0.637000													4	20					0	0	0.000602	0	0
NCAN	1463	broad.mit.edu	37	19	19351455	19351455	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:19351455C>T	ENST00000252575.5	+	12	3496	c.3453C>T	c.(3451-3453)atC>atT	p.I1151I	NCAN_ENST00000538881.1_Silent_p.I602I	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1151	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			ACGACAGGATCGTGGAGAGAG	0.637000													20	53					0	0	0.012319	0	0
CPA3	1359	broad.mit.edu	37	3	148599312	148599312	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:148599312A>G	ENST00000296046.3	+	7	632	c.580A>G	c.(580-582)Acc>Gcc	p.T194A	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	194					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CCGACAGGCAACCAAAACTTA	0.343000													7	22					0	0	0.001984	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518037	113518037	+	Missense_Mutation	SNP	G	G	A	rs145569602		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:113518037G>A	ENST00000284601.3	-	4	3178	c.3110C>T	c.(3109-3111)tCa>tTa	p.S1037L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1037					glycogen metabolic process	integral to membrane		p.S1037*(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AGTGTATAGTGATTGCCCAGA	0.393000													20	94					0	0	0.012319	0	0
INTS10	55174	broad.mit.edu	37	8	19684029	19684029	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:19684029C>T	ENST00000397977.3	+	9	1497	c.1099C>T	c.(1099-1101)Cat>Tat	p.H367Y		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	367					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TAAACACATCCATAAAAAGAG	0.388000													15	35					0	0	0.002450	0	0
YEATS2	55689	broad.mit.edu	37	3	183469889	183469889	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:183469889C>T	ENST00000305135.5	+	10	1193	c.998C>T	c.(997-999)tCt>tTt	p.S333F		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	333					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CATCGCCATTCTCTCGGAGAA	0.493000													40	78					0	0	0.013114	0	0
COL6A3	1293	broad.mit.edu	37	2	238242165	238242165	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:238242165G>A	ENST00000295550.4	-	42	9708	c.9256C>T	c.(9256-9258)Cca>Tca	p.P3086S	COL6A3_ENST00000409809.1_Missense_Mutation_p.P2880S|COL6A3_ENST00000472056.1_Missense_Mutation_p.P2479S|COL6A3_ENST00000347401.3_Missense_Mutation_p.P2885S|COL6A3_ENST00000353578.4_Missense_Mutation_p.P2880S|COL6A3_ENST00000346358.4_Missense_Mutation_p.P2886S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3086	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GACCTTGCTGGCTGTGGAGGT	0.428000													17	29					0	0	0.012319	0	0
MYOM1	8736	broad.mit.edu	37	18	3188987	3188987	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:3188987C>T	ENST00000400569.3	-	4	863	c.530G>A	c.(529-531)gGa>gAa	p.G177E	MYOM1_ENST00000261606.7_Missense_Mutation_p.G177E|MYOM1_ENST00000356443.4_Missense_Mutation_p.G177E			P52179	MYOM1_HUMAN	myomesin 1	177						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGTTGTGATTCCTTCCTCACT	0.473000													28	78					0	0	0.006320	0	0
AKR1D1	6718	broad.mit.edu	37	7	137776547	137776547	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:137776547C>T	ENST00000242375.3	+	3	337	c.295C>T	c.(295-297)Cgc>Tgc	p.R99C	AKR1D1_ENST00000411726.2_Missense_Mutation_p.R99C|AKR1D1_ENST00000468877.2_Intron|AKR1D1_ENST00000432161.1_Missense_Mutation_p.R99C	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	99					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						AGAGATGGTCCGCCCAACCCT	0.463000													11	35					0	0	0.013537	0	0
OR52E4	390081	broad.mit.edu	37	11	5905919	5905919	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5905919C>T	ENST00000316987.2	+	1	419	c.397C>T	c.(397-399)Cag>Tag	p.Q133*		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAACCCTCTCCAGTACACCAT	0.423000													32	71					0	0	0.013726	0	0
TMEM68	137695	broad.mit.edu	37	8	56668905	56668905	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:56668905C>A	ENST00000434581.2	-	4	590	c.391G>T	c.(391-393)Gga>Tga	p.G131*	TMEM68_ENST00000334667.2_Nonsense_Mutation_p.G131*|TMEM68_ENST00000523073.1_Nonsense_Mutation_p.G17*|TMEM68_ENST00000519784.1_Nonsense_Mutation_p.G17*			Q96MH6	TMM68_HUMAN	transmembrane protein 68	131						integral to membrane	acyltransferase activity			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			GGAATAGCTCCATGATAAAAA	0.308000													6	49					5.9392e-07	6.4635e-07	0.001168	1	0
XKR3	150165	broad.mit.edu	37	22	17288676	17288676	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:17288676C>T	ENST00000331428.5	-	2	390	c.288G>A	c.(286-288)aaG>aaA	p.K96K		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	96						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTAATGCAGCCTTATTTCTCC	0.348000													12	48					0	0	0.002450	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033103	82033103	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:82033103G>A	ENST00000328945.5	-	3	922	c.795C>T	c.(793-795)ttC>ttT	p.F265F		NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	265					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GAGGCCGGAAGAACTCAAAGT	0.537000													22	50					0	0	0.012319	0	0
NEB	4703	broad.mit.edu	37	2	152370118	152370118	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:152370118C>T	ENST00000397345.3	-	160	23419	c.23217G>A	c.(23215-23217)agG>agA	p.R7739R	NEB_ENST00000172853.10_Silent_p.R6038R|NEB_ENST00000603639.1_Silent_p.R7739R|NEB_ENST00000427231.2_Silent_p.R7739R|NEB_ENST00000604864.1_Silent_p.R7739R|NEB_ENST00000409198.1_Silent_p.R6038R	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6038					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAGTAGCATTCCTGGCCCTCA	0.428000													7	13					0	0	0.003080	0	0
BCAM	4059	broad.mit.edu	37	19	45315788	45315788	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:45315788G>A	ENST00000391955.1	+	4	531	c.487G>A	c.(487-489)Gag>Aag	p.E163K	BCAM_ENST00000270233.6_Missense_Mutation_p.E163K			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	163	Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GTCTGTGATGGAGGACTCTGC	0.647000													86	213					0	0	0.014410	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35130016	35130016	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:35130016G>A	ENST00000436258.1	-	0	3353																											TTCTTTGGCAGATTTTCGACT	0.289000													32	68					0	0	0.013726	0	0
FCGR3A	2214	broad.mit.edu	37	1	161518461	161518461	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:161518461G>A	ENST00000367969.3	-	3	360	c.177C>T	c.(175-177)ctC>ctT	p.L59L	FCGR3A_ENST00000436743.1_Silent_p.L23L|FCGR3A_ENST00000540048.1_Silent_p.L23L|FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000443193.1_Silent_p.L58L	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	23	Ig-like C2-type 1.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		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)	CAGCCTTTGGGAGATCTTCTG	0.552000													13	66					0	0	0.004007	0	0
TNRC6C	57690	broad.mit.edu	37	17	76094571	76094571	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:76094571C>T	ENST00000335749.4	+	18	5131	c.4562C>T	c.(4561-4563)tCc>tTc	p.S1521F	TNRC6C_ENST00000588061.1_Missense_Mutation_p.S1485F|TNRC6C_ENST00000588847.1_Missense_Mutation_p.S1521F|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S1521F|TNRC6C_ENST00000301624.4_Missense_Mutation_p.S1485F|TNRC6C_ENST00000541771.1_Missense_Mutation_p.S1485F	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1485	Sufficient for translational repression when tethered to a target mRNA.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AAGCCCTCCTCCACCTGGGGT	0.602000													34	27					0	0	0.006999	0	0
PCDH19	57526	broad.mit.edu	37	X	99661934	99661934	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:99661934G>A	ENST00000373034.4	-	1	3337	c.1662C>T	c.(1660-1662)ctC>ctT	p.L554L	PCDH19_ENST00000420881.2_Silent_p.L554L|PCDH19_ENST00000255531.7_Silent_p.L554L	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	554	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CGTTGACGTCGAGGATGATGA	0.582000													48	27					0	0	0.014410	0	0
PXDNL	137902	broad.mit.edu	37	8	52321692	52321692	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:52321692G>A	ENST00000356297.4	-	17	2592	c.2492C>T	c.(2491-2493)cCg>cTg	p.P831L	PXDNL_ENST00000543296.1_Missense_Mutation_p.P831L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	831					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGAGCTGCACGGCCGCCCATC	0.667000													3	17					0	0	0.004672	0	0
TJP2	9414	broad.mit.edu	37	9	71842716	71842716	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:71842716C>T	ENST00000377245.4	+	8	1454	c.1246C>T	c.(1246-1248)Cca>Tca	p.P416S	TJP2_ENST00000453658.2_Missense_Mutation_p.P393S|TJP2_ENST00000348208.4_Missense_Mutation_p.P416S|TJP2_ENST00000265384.7_Missense_Mutation_p.P416S|TJP2_ENST00000535702.1_Missense_Mutation_p.P420S|TJP2_ENST00000539225.1_Missense_Mutation_p.P447S	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	416					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						ATCATTTTCTCCAGAGGAGAG	0.318000													5	16					0	0	0.004482	0	0
RHCE	6006	broad.mit.edu	37	1	25712324	25712324	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:25712324G>A	ENST00000349320.3	-	9	1291	c.903C>T	c.(901-903)aaC>aaT	p.N301N	RHCE_ENST00000349438.4_Intron|RHCE_ENST00000340849.4_Silent_p.N212N|RHCE_ENST00000294413.7_Silent_p.N317N|RHCE_ENST00000346452.4_Silent_p.N166N|RHCE_ENST00000425135.1_Intron|RHCE_ENST00000374352.2_Silent_p.N301N|RHCE_ENST00000243186.6_Silent_p.N317N|RHCE_ENST00000413854.1_Silent_p.N317N|RHCE_ENST00000455194.1_Silent_p.N212N			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	317						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCACTCGGTTACAACACA	0.517000													42	86					0	0	0.011902	0	0
FNDC9	408263	broad.mit.edu	37	5	156770295	156770295	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:156770295G>A	ENST00000312349.4	-	2	437	c.250C>T	c.(250-252)Cct>Tct	p.P84S	CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000521420.1_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	84	Fibronectin type-III.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						TGCCTGTAAGGGAAGGCAGCC	0.567000											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	43					0	0	0.002450	0	0
NPC1L1	29881	broad.mit.edu	37	7	44556493	44556493	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:44556493G>A	ENST00000289547.4	-	17	3464	c.3409C>T	c.(3409-3411)Cct>Tct	p.P1137S	NPC1L1_ENST00000381160.3_Missense_Mutation_p.P1110S|NPC1L1_ENST00000546276.1_Missense_Mutation_p.P1064S	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1137					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGCCCCTCAGGGAGGATGGTC	0.622000													6	26					0	0	0.001984	0	0
URAD	646625	broad.mit.edu	37	13	28562652	28562652	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:28562652C>T	ENST00000332715.4	-	1	122	c.123G>A	c.(121-123)ttG>ttA	p.L41L		NM_001105577.1	NP_001099047.1			ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase																		CTAAATCTTCCAAATCAGAGA	0.463000													5	42					0	0	0.000602	0	0
GPR101	83550	broad.mit.edu	37	X	136112662	136112662	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:136112662C>T	ENST00000298110.1	-	1	1171	c.1172G>A	c.(1171-1173)aGg>aAg	p.R391K		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	391						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CTGGTAGCACCTGGGCAGAGG	0.537000													25	21					0	0	0.004656	0	0
ASPHD1	253982	broad.mit.edu	37	16	29912865	29912865	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:29912865C>T	ENST00000308748.5	+	1	825	c.573C>T	c.(571-573)ttC>ttT	p.F191F	ASPHD1_ENST00000483405.1_Intron	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	191					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						GCCTGCTTTTCCTACCAGACC	0.672000													19	74					0	0	0.008871	0	0
PTPRT	11122	broad.mit.edu	37	20	40790089	40790089	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:40790089C>T	ENST00000373198.3	-	18	2886	c.2651G>A	c.(2650-2652)cGg>cAg	p.R884Q	PTPRT_ENST00000373190.1_Missense_Mutation_p.R861Q|PTPRT_ENST00000373184.1_Missense_Mutation_p.R852Q|PTPRT_ENST00000356100.2_Missense_Mutation_p.R871Q|PTPRT_ENST00000373187.1_Missense_Mutation_p.R862Q|PTPRT_ENST00000373193.3_Missense_Mutation_p.R865Q|PTPRT_ENST00000373201.1_Missense_Mutation_p.R852Q	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	862					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GAACTGGTCCCGGGGGTAGCT	0.612000													20	47					0	0	0.007413	0	0
GH2	2689	broad.mit.edu	37	17	61958450	61958450	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:61958450G>A	ENST00000332800.7	-	3	363	c.230C>T	c.(229-231)tCc>tTc	p.S77F	GH2_ENST00000449787.2_Missense_Mutation_p.S62F|GH2_ENST00000456543.2_Missense_Mutation_p.S77F|GH2_ENST00000423893.2_Missense_Mutation_p.S77F	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	77						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GAAGCAGAGGGAGGTCTGGGG	0.532000													77	125					0	0	0.014410	0	0
INHBA	3624	broad.mit.edu	37	7	41729281	41729281	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:41729281C>T	ENST00000242208.4	-	3	1494	c.1248G>A	c.(1246-1248)caG>caA	p.Q416Q	INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Silent_p.Q416Q|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	416					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CGATCATGTTCTGAATGTCCT	0.483000										TSP Lung(11;0.080)			32	41					0	0	0.005524	0	0
SLC5A7	60482	broad.mit.edu	37	2	108627152	108627152	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:108627152G>A	ENST00000264047.2	+	9	1854	c.1578G>A	c.(1576-1578)atG>atA	p.M526I	SLC5A7_ENST00000409059.1_Missense_Mutation_p.M526I|SLC5A7_ENST00000540517.1_Missense_Mutation_p.M421I	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	526					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	AAGAAAACATGGATAAGACAA	0.373000													6	25					0	0	0.001168	0	0
OR2A25	392138	broad.mit.edu	37	7	143772188	143772188	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:143772188G>A	ENST00000408898.2	+	1	914	c.876G>A	c.(874-876)agG>agA	p.R292R		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					ATAGTCTTAGGAACAAGGAAG	0.423000													77	146					0	0	0.014410	0	0
LRRC66	339977	broad.mit.edu	37	4	52861266	52861266	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:52861266G>A	ENST00000343457.3	-	4	1928	c.1922C>T	c.(1921-1923)tCc>tTc	p.S641F		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	641						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CCTTGCCCCGGACAGCCTTGG	0.532000													21	19					0	0	0.003330	0	0
MYO7B	4648	broad.mit.edu	37	2	128331610	128331610	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:128331610C>T	ENST00000389524.4	+	7	761	c.708C>T	c.(706-708)ctC>ctT	p.L236L	MYO7B_ENST00000409816.2_Silent_p.L236L|MYO7B_ENST00000428314.1_Silent_p.L236L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	236	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGCAATTTCTCCTGGAGAAGT	0.597000													46	87					0	0	0.014410	0	0
DENND2C	163259	broad.mit.edu	37	1	115141952	115141952	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:115141952G>A	ENST00000393274.1	-	16	2851	c.2226C>T	c.(2224-2226)ttC>ttT	p.F742F	DENND2C_ENST00000393276.3_Silent_p.F685F|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Intron	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	742	DENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCCAATAAGGAATGGTGTAG	0.468000													38	71					0	0	0.009718	0	0
KIAA1244	57221	broad.mit.edu	37	6	138657605	138657605	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:138657605C>T	ENST00000251691.4	+	34	6682	c.6516C>T	c.(6514-6516)gtC>gtT	p.V2172V		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	2172					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGGGCCGTGTCTATGACATCA	0.557000													17	39					0	0	0.006122	0	0
GAB4	128954	broad.mit.edu	37	22	17445659	17445659	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:17445659G>A	ENST00000400588.1	-	8	1580	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	491										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GACTCACCGGGAAAAGATACC	0.562000													12	25					0	0	0.010729	0	0
COL4A4	1286	broad.mit.edu	37	2	227872289	227872289	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:227872289C>T	ENST00000396625.3	-	48	5032	c.4825G>A	c.(4825-4827)Gac>Aac	p.D1609N	COL4A4_ENST00000329662.7_Missense_Mutation_p.D1606N	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1609	Collagen IV NC1.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTCCTTGGTCCCCAGCTCCT	0.567000													10	38					0	0	0.008291	0	0
EIF3G	8666	broad.mit.edu	37	19	10226423	10226423	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:10226423G>A	ENST00000253108.4	-	9	819	c.777C>T	c.(775-777)ttC>ttT	p.F259F		NM_003755.3	NP_003746.2	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3, subunit G	259	RRM.					cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CGAAAGGCCGGAAGAGCTCCT	0.632000													22	72					0	0	0.002780	0	0
STAB2	55576	broad.mit.edu	37	12	104031985	104031985	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:104031985G>A	ENST00000388887.2	+	8	1105	c.901G>A	c.(901-903)Gga>Aga	p.G301R		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	301					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGATGGGCCTGGACAGGTGAG	0.473000													14	9					0	0	0.004007	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1716430	1716430	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:1716430C>T	ENST00000397412.3	+	16	2964	c.2865C>T	c.(2863-2865)atC>atT	p.I955I	LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000293925.5_Silent_p.I955I|CRAMP1L_ENST00000262317.4_Silent_p.I333I|CRAMP1L_ENST00000436138.3_Silent_p.I952I			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	955						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CAGGTGCTATCGACTTAGCAG	0.572000													4	12					0	0	0.009096	0	0
DCDC2B	149069	broad.mit.edu	37	1	32678136	32678136	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:32678136G>A	ENST00000409358.1	+	5	573	c.573G>A	c.(571-573)ctG>ctA	p.L191L		NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	191	Doublecortin 2.				intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GGAAGGAGCTGGTAACTGGCC	0.587000													33	45					0	0	0.012213	0	0
OR1S2	219958	broad.mit.edu	37	11	57971493	57971493	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:57971493C>T	ENST00000302592.6	-	1	160	c.161G>A	c.(160-162)gGg>gAg	p.G54E		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				GAGCCCGTTCCCAACCACAGT	0.458000													23	48					0	0	0.002780	0	0
ZNRF3	84133	broad.mit.edu	37	22	29446881	29446881	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:29446881C>T	ENST00000544604.2	+	8	2887	c.2712C>T	c.(2710-2712)ttC>ttT	p.F904F	ZNRF3_ENST00000402174.1_Silent_p.F804F|ZNRF3_ENST00000332811.4_Silent_p.F804F|ZNRF3_ENST00000406323.3_Silent_p.F804F	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	904						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GGGCCAACTTCCCTAGTGCCC	0.642000													6	16					0	0	0.001168	0	0
DSG3	1830	broad.mit.edu	37	18	29049230	29049230	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:29049230G>A	ENST00000257189.4	+	12	1898	c.1815G>A	c.(1813-1815)ggG>ggA	p.G605G		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	605					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAAGCCCTGGGACCAGGTATG	0.587000													26	41					0	0	0.003954	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12856020	12856020	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:12856020C>T	ENST00000332296.7	+	4	1403	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.R189W	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	434										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|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)		CACCCCACTTCGGGCTGAGCT	0.562000													9	253					0	0	0.004990	0	0
ZNF441	126068	broad.mit.edu	37	19	11888539	11888539	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:11888539C>T	ENST00000357901.4	+	2	219	c.117C>T	c.(115-117)aaC>aaT	p.N39N	ZNF441_ENST00000454339.2_5'UTR	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCATCAGAAACCTGGACTGTA	0.408000													8	22					0	0	0.003080	0	0
SEPT12	124404	broad.mit.edu	37	16	4827869	4827869	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:4827869C>T	ENST00000268231.8	-	10	1269	c.1006G>A	c.(1006-1008)Gga>Aga	p.G336R	SEPT12_ENST00000396693.5_Missense_Mutation_p.G290R	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	336					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						GTCAGCTGTCCTGGGGAGGCC	0.647000													6	5					0	0	0.001984	0	0
SNORD115-43	100033817	broad.mit.edu	37	15	25494426	25494426	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:25494426C>T	ENST00000365503.1	+	0	82					NR_003303.1|NR_003344.1|NR_003351.1|NR_003358.1																						CGCTGAGGCCCAGGCTAGGTG	0.493000													56	126					0	0	0.014410	0	0
SCN1A	6323	broad.mit.edu	37	2	166929916	166929916	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:166929916C>T	ENST00000423058.2	-	1	233	c.216G>A	c.(214-216)atG>atA	p.M72I	SCN1A_ENST00000375405.3_Missense_Mutation_p.M72I|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.M72I|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.M72I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	72						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GCTCTGACACCATCTCTGGAG	0.428000													56	66					0	0	0.014410	0	0
GINS3	64785	broad.mit.edu	37	16	58438588	58438588	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:58438588C>T	ENST00000318129.5	+	3	814	c.606C>T	c.(604-606)ctC>ctT	p.L202L	GINS3_ENST00000328514.7_Silent_p.L124L|GINS3_ENST00000426538.2_Silent_p.L241L	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	202					DNA replication	nucleus				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						CTTCCAACCTCGTTCAGAATT	0.478000													11	24					0	0	0.013537	0	0
B3GNT3	10331	broad.mit.edu	37	19	17922514	17922514	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:17922514C>T	ENST00000318683.6	+	3	849	c.702C>T	c.(700-702)ttC>ttT	p.F234F	B3GNT3_ENST00000595387.1_Silent_p.F234F	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	234					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GCCACCTCTTCGTGGGGCAAC	0.562000													21	42					0	0	0.003954	0	0
WDR31	114987	broad.mit.edu	37	9	116094253	116094253	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:116094253G>A	ENST00000374193.4	-	3	296	c.50C>T	c.(49-51)tCg>tTg	p.S17L	WDR31_ENST00000341761.4_Missense_Mutation_p.S17L|WDR31_ENST00000374195.3_5'UTR|WDR31_ENST00000461942.1_Intron	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	17										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						AAACCTAAACGAAACCTTCTG	0.458000													17	23					0	0	0.012319	0	0
GBP2	2634	broad.mit.edu	37	1	89582838	89582838	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:89582838G>A	ENST00000370466.3	-	6	973	c.705C>T	c.(703-705)gtC>gtT	p.V235V	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	235					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		GCCAATCGAAGACGAAGCACT	0.423000													15	41					0	0	0.004007	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526089	176526089	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:176526089G>A	ENST00000367662.3	+	2	1795	c.631G>A	c.(631-633)Gga>Aga	p.G211R	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G211R	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	211					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.G211R(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGATGGGCAGGGAGACTCCGG	0.562000													24	57					0	0	0.014323	0	0
TTN	7273	broad.mit.edu	37	2	179465822	179465822	+	Silent	SNP	C	C	T	rs35647804		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179465822C>T	ENST00000589042.1	-	288	56033	c.55809G>A	c.(55807-55809)ccG>ccA	p.P18603P	TTN_ENST00000460472.2_Silent_p.P9538P|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Silent_p.P9663P|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.P16035P|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.P9730P|TTN_ENST00000591111.1_Silent_p.P16962P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16962	Fibronectin type-III 34.						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)			CATCATTCTTCGGGGGTTTCC	0.458000													18	51					0	0	0.004990	0	0
CCDC141	285025	broad.mit.edu	37	2	179702064	179702064	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179702064G>A	ENST00000420890.2	-	23	3999	c.3882C>T	c.(3880-3882)ttC>ttT	p.F1294F	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Silent_p.F719F	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	719							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)			GCTCAGCTTTGAACTGGAGGT	0.473000													17	56					0	0	0.004990	0	0
XAGE5	170627	broad.mit.edu	37	X	52842166	52842166	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:52842166G>A	ENST00000375503.3	+	2	438	c.75G>A	c.(73-75)gaG>gaA	p.E25E	XAGE5_ENST00000425386.1_Silent_p.E25E|XAGE5_ENST00000351072.1_Silent_p.E25E|XAGE5_ENST00000375501.1_Silent_p.E25E			Q8WWM1	GAGD5_HUMAN	X antigen family, member 5	25										endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						TGTCCCAGGAGCCCAGTGTGC	0.448000													18	3					0	0	0.006122	0	0
MUC17	140453	broad.mit.edu	37	7	100686979	100686979	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100686979C>T	ENST00000306151.4	+	3	12346	c.12282C>T	c.(12280-12282)acC>acT	p.T4094T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4094						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCATGACCACCAGGACAAAAC	0.562000													19	37					0	0	0.012319	0	0
TGFBI	7045	broad.mit.edu	37	5	135392410	135392410	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:135392410G>A	ENST00000442011.2	+	12	1765	c.1604G>A	c.(1603-1605)gGa>gAa	p.G535E	TGFBI_ENST00000305126.8_Missense_Mutation_p.G535E	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	535	FAS1 4.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AACCGGGAAGGAGTCTACACA	0.507000													11	25					0	0	0.010729	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605446	140605446	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140605446G>A	ENST00000239449.4	+	1	2369	c.2369G>A	c.(2368-2370)cGa>cAa	p.R790Q	PCDHB14_ENST00000515856.2_Missense_Mutation_p.R637Q	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		790					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAACTTTCGAAATAGCTTT	0.348000													7	19					0	0	0.003080	0	0
PSD2	84249	broad.mit.edu	37	5	139221957	139221957	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:139221957G>A	ENST00000274710.3	+	15	2419	c.2214G>A	c.(2212-2214)ggG>ggA	p.G738G		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	738					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGGAAGGGGATGACCCTT	0.547000													12	25					0	0	0.010729	0	0
CDSN	1041	broad.mit.edu	37	6	31084274	31084274	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:31084274C>T	ENST00000376288.2	-	2	1144	c.1118G>A	c.(1117-1119)gGg>gAg	p.G373E	PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	373	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						CCCACCAGTCCCCACTGGCTG	0.632000													5	11					0	0	0.000602	0	0
OR5I1	10798	broad.mit.edu	37	11	55703403	55703403	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:55703403G>A	ENST00000301532.3	-	1	473	c.474C>T	c.(472-474)tcC>tcT	p.S158S		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGTGAACCAGGGAACTCATGT	0.413000													7	51					0	0	0.003080	0	0
REPS2	9185	broad.mit.edu	37	X	17153397	17153397	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:17153397C>T	ENST00000357277.3	+	16	1847	c.1676C>T	c.(1675-1677)tCt>tTt	p.S559F	REPS2_ENST00000469714.1_3'UTR|REPS2_ENST00000303843.7_Missense_Mutation_p.S558F|REPS2_ENST00000380064.4_Missense_Mutation_p.S358F	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	559	Interaction with RALBP1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GTACTGTATTCTCAGCCACCA	0.423000													28	55					0	0	0.008361	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809748	18809748	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:18809748G>A	ENST00000400664.1	+	1	2325	c.2273G>A	c.(2272-2274)gGc>gAc	p.G758D		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	758						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCCGCAGGGCACCCTCCTG	0.642000													25	61					0	0	0.005443	0	0
SEC22B	9554	broad.mit.edu	37	1	145103977	145103977	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:145103977C>T	ENST00000453618.1	+	0	472							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										TGAACAGTCCCCTACCAGATG	0.393000													6	29					0	0	0.001984	0	0
SYT3	84258	broad.mit.edu	37	19	51133146	51133146	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:51133146C>T	ENST00000338916.4	-	3	1590	c.957G>A	c.(955-957)agG>agA	p.R319R	SYT3_ENST00000593901.1_Silent_p.R319R|SYT3_ENST00000600079.1_Silent_p.R319R|SYT3_ENST00000544769.1_Silent_p.R319R	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	319	C2 1.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCTGCAGGATCCTCACCACCA	0.622000													22	127					0	0	0.002780	0	0
OR2G3	81469	broad.mit.edu	37	1	247769241	247769241	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:247769241G>A	ENST00000320002.2	+	1	386	c.354G>A	c.(352-354)atG>atA	p.M118I	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGCTGACATGGCCTTGGATC	0.507000													27	169					0	0	0.005443	0	0
CYP2C19	1557	broad.mit.edu	37	10	96522549	96522549	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:96522549C>T	ENST00000371321.3	+	1	169	c.87C>T	c.(85-87)ctC>ctT	p.L29L	CYP2C19_ENST00000464755.1_Intron	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	29					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GAGGAAAACTCCCTCCTGGCC	0.453000													18	51					0	0	0.004990	0	0
ITIH5	80760	broad.mit.edu	37	10	7679298	7679298	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:7679298G>A	ENST00000256861.6	-	5	623	c.545C>T	c.(544-546)tCc>tTc	p.S182F	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.S182F|ITIH5_ENST00000397145.2_Missense_Mutation_p.S182F|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	182					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CAGCCTCCCGGACAGCTGCTG	0.632000													9	31					0	0	0.006214	0	0
SYNPO	11346	broad.mit.edu	37	5	150028986	150028986	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:150028986C>T	ENST00000394243.1	+	3	2255	c.1881C>T	c.(1879-1881)ttC>ttT	p.F627F	SYNPO_ENST00000307662.4_Silent_p.F383F|SYNPO_ENST00000522122.1_Silent_p.F627F|SYNPO_ENST00000519664.1_Silent_p.F383F	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	627					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTTTACTTTCGTGGAGAAGC	0.612000													12	31					0	0	0.003163	0	0
RAB27A	5873	broad.mit.edu	37	15	55497756	55497756	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:55497756G>A	ENST00000396307.2	-	6	866	c.615C>T	c.(613-615)gcC>gcT	p.A205A	RAB27A_ENST00000336787.1_Silent_p.A205A|RAB27A_ENST00000564609.1_Silent_p.A205A|RAB27A_ENST00000569493.1_Silent_p.A205A	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	205					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		GATCCGTAGAGGCATGACCAT	0.483000													23	86					0	0	0.004656	0	0
RGL3	57139	broad.mit.edu	37	19	11508178	11508178	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:11508178G>A	ENST00000380456.3	-	17	1905	c.1842C>T	c.(1840-1842)gcC>gcT	p.A614A	RGL3_ENST00000393423.3_Silent_p.A620A|RGL3_ENST00000568628.1_5'UTR	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	614	Interaction with HRAS, MRAS and RIT1 (By similarity).|Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GGATGACACGGGCCTCCGAGC	0.682000													11	23					0	0	0.010729	0	0
HYDIN	54768	broad.mit.edu	37	16	70843784	70843784	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:70843784C>T	ENST00000393567.2	-	85	14935	c.14785G>A	c.(14785-14787)Gaa>Aaa	p.E4929K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4929								p.E4880K(1)|p.E4928K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACAGGCTTTTCCGGAAGTGCT	0.478000													115	219					0	0	0.014410	0	0
GOLGA1	2800	broad.mit.edu	37	9	127651553	127651553	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:127651553G>A	ENST00000373555.4	-	18	1963	c.1630C>T	c.(1630-1632)Cag>Tag	p.Q544*		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	544	Gln-rich.					Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GCCTGCAGCTGGTGTATCTGC	0.667000													8	24					0	0	0.006214	0	0
OSTN	344901	broad.mit.edu	37	3	190967849	190967849	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:190967849G>A	ENST00000339051.1	+	3	341	c.341G>A	c.(340-342)aGg>aAg	p.R114K	OSTN_ENST00000445281.1_Intron	NM_198184.1	NP_937827.1	P61366	OSTN_HUMAN	osteocrin	114					cell differentiation|multicellular organismal development|ossification		hormone activity			kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		CATCCAAAAAGGCGATTTGGT	0.343000													16	60					0	0	0.004990	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	43					0	0	0.000602	0	0
INADL	10207	broad.mit.edu	37	1	62237153	62237153	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:62237153C>T	ENST00000371158.2	+	6	689	c.575C>T	c.(574-576)cCa>cTa	p.P192L	INADL_ENST00000316485.6_Missense_Mutation_p.P192L	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	192	PDZ 1.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AATCACACGCCATTGGATCAG	0.353000													11	38					0	0	0.010729	0	0
MXRA5	25878	broad.mit.edu	37	X	3235908	3235908	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:3235908C>T	ENST00000217939.6	-	6	5968	c.5814G>A	c.(5812-5814)agG>agA	p.R1938R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1938	Ig-like C2-type 3.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGACCACCATCCTGTCCAGGC	0.532000													38	13					0	0	0.009718	0	0
SEMA3A	10371	broad.mit.edu	37	7	83590814	83590814	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:83590814C>T	ENST00000265362.3	-	17	2503	c.2189G>A	c.(2188-2190)cGa>cAa	p.R730Q	SEMA3A_ENST00000436949.1_Missense_Mutation_p.R730Q	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	730	Arg/Lys-rich (basic).				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ACGTTGTTTTCGGTCCCTTTT	0.468000													19	50					0	0	0.006122	0	0
CR2	1380	broad.mit.edu	37	1	207647209	207647209	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:207647209T>C	ENST00000367057.3	+	12	2408	c.2219T>C	c.(2218-2220)gTt>gCt	p.V740A	CR2_ENST00000458541.2_Missense_Mutation_p.V654A|CR2_ENST00000367059.3_Missense_Mutation_p.V681A|CR2_ENST00000367058.3_Missense_Mutation_p.V681A	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	812	Sushi 12.				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						GTGGAGCTAGTTAATACGTCC	0.423000													34	63					0	0	0.005524	0	0
FAT3	120114	broad.mit.edu	37	11	92534656	92534656	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:92534656G>A	ENST00000298047.6	+	9	8494	c.8477G>A	c.(8476-8478)gGg>gAg	p.G2826E	FAT3_ENST00000409404.2_Missense_Mutation_p.G2826E|FAT3_ENST00000525166.1_Missense_Mutation_p.G2676E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2826	Cadherin 26.				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)				ATAATGGAAGGGATGCCTGTT	0.448000										TCGA Ovarian(4;0.039)			75	264					0	0	0.014410	0	0
AMY2A	279	broad.mit.edu	37	1	104160673	104160673	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:104160673G>A	ENST00000414303.2	+	2	330	c.266G>A	c.(265-267)gGa>gAa	p.G89E		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	89					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	ACAAGATCTGGAAATGAAGAT	0.353000													48	104					0	0	0.014410	0	0
USH2A	7399	broad.mit.edu	37	1	216051165	216051165	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:216051165A>T	ENST00000366943.2	-	43	9002	c.8616T>A	c.(8614-8616)gaT>gaA	p.D2872E	USH2A_ENST00000307340.3_Missense_Mutation_p.D2872E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2872	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)		ACCGATTTAAATCTTCTGGGG	0.393000										HNSCC(13;0.011)			44	96					0	0	0.010771	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907649	12907649	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:12907649C>T	ENST00000317869.6	-	2	719	c.494G>A	c.(493-495)gGa>gAa	p.G165E		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TCCCCGCTTTCCACTCTTAGA	0.493000													88	174					0	0	0.014410	0	0
LCN9	392399	broad.mit.edu	37	9	138555245	138555245	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:138555245G>A	ENST00000277526.3	+	1	78	c.78G>A	c.(76-78)agG>agA	p.R26R	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	26						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		TTATGCAGAGGAACTACAACG	0.632000													14	23					0	0	0.004990	0	0
PLCE1	51196	broad.mit.edu	37	10	95791266	95791266	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:95791266G>A	ENST00000260766.3	+	2	1097	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	PLCE1_ENST00000371380.2_Missense_Mutation_p.E155K	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	155					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AATTCAACTGGAACTAGACAG	0.433000													21	42					0	0	0.012319	0	0
CLEC1A	51267	broad.mit.edu	37	12	10251418	10251418	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:10251418G>A	ENST00000315330.4	-	1	166	c.104C>T	c.(103-105)cCc>cTc	p.P35L	CLEC1A_ENST00000457018.2_Missense_Mutation_p.P35L|CLEC1A_ENST00000420265.2_Missense_Mutation_p.P35L	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	35					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						TGTGCGCCGGGGCTCTGGATG	0.532000													8	8					0	0	0.003080	0	0
MUC6	4588	broad.mit.edu	37	11	1016871	1016871	+	Missense_Mutation	SNP	G	G	A	rs71472140		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:1016871G>A	ENST00000421673.2	-	31	5980	c.5930C>T	c.(5929-5931)cCc>cTc	p.P1977L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1977	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAAGAGAAGGGACTGCTCCC	0.587000													65	1324					0	0	0.007835	0	0
GRIK2	2898	broad.mit.edu	37	6	102250215	102250215	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:102250215G>A	ENST00000369138.1	+	8	1595	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	GRIK2_ENST00000421544.1_Missense_Mutation_p.E369K|GRIK2_ENST00000413795.1_Missense_Mutation_p.E369K|GRIK2_ENST00000318991.6_Missense_Mutation_p.E369K|GRIK2_ENST00000369134.4_Missense_Mutation_p.E320K|GRIK2_ENST00000369137.3_Missense_Mutation_p.E369K	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	369					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GGCACATTGGGAAGGCCTCAC	0.338000													12	25					0	0	0.013537	0	0
OR5B2	390190	broad.mit.edu	37	11	58190555	58190555	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:58190555G>A	ENST00000302581.2	-	1	231	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGTTACTGAGGAAAAAGTACA	0.502000													22	36					0	0	0.014323	0	0
DSG3	1830	broad.mit.edu	37	18	29054237	29054237	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:29054237C>T	ENST00000257189.4	+	15	2338	c.2255C>T	c.(2254-2256)gCc>gTc	p.A752V		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	752					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTCGGAGCAGCCACTGGAGTT	0.537000													12	13					0	0	0.010729	0	0
OR5H6	79295	broad.mit.edu	37	3	97983425	97983425	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:97983425C>T	ENST00000383696.2	+	1	338	c.297C>T	c.(295-297)atC>atT	p.I99I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGATGCTGATCAACTTCTTAG	0.408000													28	62					0	0	0.010818	0	0
TMEM39A	55254	broad.mit.edu	37	3	119165876	119165876	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:119165876G>A	ENST00000319172.5	-	5	984	c.564C>T	c.(562-564)ttC>ttT	p.F188F	TMEM39A_ENST00000486159.1_Intron	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	188						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		GGTAGCCAAGGAAAAGGAGAT	0.393000													4	17					0	0	0.009096	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688857	26688857	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:26688857C>T	ENST00000529632.2	+	2	776	c.580C>T	c.(580-582)Cct>Tct	p.P194S	SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P194S|SEZ6L_ENST00000343706.4_Missense_Mutation_p.P194S|SEZ6L_ENST00000248933.6_Missense_Mutation_p.P194S|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P194S	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	194						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GAGTGCGGTCCCTACAACACC	0.667000													19	70					0	0	0.007413	0	0
CTD-2090I13.1	0	broad.mit.edu	37	1	227618340	227618340	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:227618340G>A	ENST00000445817.1	+	0	1575																											GCTGTGGGTCGAAGATATGCT	0.502000													4	23					0	0	0.000602	0	0
OR10T2	128360	broad.mit.edu	37	1	158368604	158368604	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158368604G>A	ENST00000334438.1	-	1	652	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GAAGCCATAGGATATGAGAAT	0.463000													6	48					0	0	0.001168	0	0
PHACTR3	116154	broad.mit.edu	37	20	58342337	58342337	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:58342337C>T	ENST00000371015.1	+	5	1105	c.638C>T	c.(637-639)tCc>tTc	p.S213F	PHACTR3_ENST00000395636.2_Missense_Mutation_p.S172F|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000541461.1_Missense_Mutation_p.S172F|PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000359926.3_Missense_Mutation_p.S210F|PHACTR3_ENST00000355648.4_Missense_Mutation_p.S172F	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	213						nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.S213F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GGGGCTGACTCCCTGGACAGT	0.632000													11	25					0	0	0.008291	0	0
TPTE	7179	broad.mit.edu	37	21	10916373	10916373	+	Missense_Mutation	SNP	G	G	A	rs138794341	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:10916373G>A	ENST00000298232.7	-	19	1586	c.1219C>T	c.(1219-1221)Cct>Tct	p.P407S	TPTE_ENST00000415664.2_Intron|TPTE_ENST00000361285.4_Missense_Mutation_p.P425S|TPTE_ENST00000342420.5_Missense_Mutation_p.P387S	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	425					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CACTTACGAGGAATCGAATAA	0.388000													13	51					0	0	0.013537	0	0
DOK2	9046	broad.mit.edu	37	8	21766993	21766993	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:21766993G>A	ENST00000276420.4	-	5	1326	c.1068C>T	c.(1066-1068)ctC>ctT	p.L356L	DOK2_ENST00000544659.1_Silent_p.L202L	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	356	Pro-rich.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GGCTGTCATAGAGGGACAGGG	0.667000													8	37					0	0	0.003080	0	0
INSRR	3645	broad.mit.edu	37	1	156811534	156811534	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:156811534C>T	ENST00000368195.3	-	20	3846	c.3450G>A	c.(3448-3450)ggG>ggA	p.G1150G	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1150	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCAGCCCCTTCCCACCCTTGC	0.617000													35	64					0	0	0.003755	0	0
CERS3	204219	broad.mit.edu	37	15	101031137	101031137	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:101031137C>T	ENST00000284382.4	-	5	597		c.e5-1		CERS3_ENST00000394113.1_Splice_Site|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000538112.2_Splice_Site	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3							endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										AGCAACAAATCTACAAAAATA	0.308000													10	22					0	0	0.006214	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997283	146997283	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:146997283G>A	ENST00000361727.3	+	9	1915	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	467	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCTAGCCAAGGAAAATTTTGC	0.413000										HNSCC(39;0.1)			15	46					0	0	0.004007	0	0
LCK	3932	broad.mit.edu	37	1	32739964	32739964	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:32739964G>A	ENST00000333070.4	+	2	134	c.34G>A	c.(34-36)Gac>Aac	p.D12N	LCK_ENST00000336890.5_Missense_Mutation_p.D12N|LCK_ENST00000373564.3_Missense_Mutation_p.D12N	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	12	Interactions with CD4 and CD8 (By similarity).				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	CCCGGAAGATGACTGGATGGA	0.577000			T	TRB@	T-ALL								34	54					0	0	0.004878	0	0
CCDC74B	91409	broad.mit.edu	37	2	130899763	130899763	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:130899763G>A	ENST00000392984.3	-	2	1536	c.793C>T	c.(793-795)Cct>Tct	p.P265S	CCDC74B_ENST00000409943.3_Intron|CCDC74B_ENST00000409128.1_Intron|CCDC74B_ENST00000310463.6_Missense_Mutation_p.P163S			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	163										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					CTGTCTGCAGGAGAGCGCACA	0.632000													6	22					0	0	0.006214	0	0
PWWP2B	170394	broad.mit.edu	37	10	134219344	134219344	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:134219344C>T	ENST00000305233.5	+	2	1399	c.1340C>T	c.(1339-1341)tCg>tTg	p.S447L	PWWP2B_ENST00000368609.4_Missense_Mutation_p.S447L	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	447										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GGTGACCTCTCGCCTGGCCAC	0.697000													6	10					0	0	0.001168	0	0
BEND3	57673	broad.mit.edu	37	6	107390735	107390735	+	Silent	SNP	G	G	A	rs146650207		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:107390735G>A	ENST00000429433.2	-	5	2309	c.1660C>T	c.(1660-1662)Ctg>Ttg	p.L554L	BEND3_ENST00000369042.1_Silent_p.L554L	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	554	BEN 3.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						TTGCTGAGCAGGCAGTCGGCA	0.637000													18	32					0	0	0.006122	0	0
EYA4	2070	broad.mit.edu	37	6	133789771	133789771	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:133789771G>A	ENST00000367895.5	+	11	1336	c.872G>A	c.(871-873)gGa>gAa	p.G291E	EYA4_ENST00000355286.6_Missense_Mutation_p.G268E|EYA4_ENST00000531901.1_Missense_Mutation_p.G291E|EYA4_ENST00000430974.2_Missense_Mutation_p.G237E|EYA4_ENST00000431403.2_Missense_Mutation_p.G291E|EYA4_ENST00000452339.2_Missense_Mutation_p.G237E|EYA4_ENST00000355167.3_Missense_Mutation_p.G291E|EYA4_ENST00000525849.1_Missense_Mutation_p.G268E	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	291					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TCAACGTATGGAGCGTATATG	0.428000													20	73					0	0	0.008871	0	0
CELA1	1990	broad.mit.edu	37	12	51733658	51733658	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:51733658G>A	ENST00000293636.1	-	6	635	c.595C>T	c.(595-597)Cgc>Tgc	p.R199C		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	199	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CATCCAGAGCGAACTCCATCT	0.602000													25	13					0	0	0.004656	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136533592	136533592	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:136533592C>T	ENST00000355849.5	+	2	611	c.201C>T	c.(199-201)ttC>ttT	p.F67F	KHDRBS3_ENST00000520981.1_Silent_p.F40F	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	67	KH.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			TAAAACAGTTCCCTAAGGTAA	0.373000													9	18					0	0	0.006214	0	0
EDNRA	1909	broad.mit.edu	37	4	148463676	148463676	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:148463676C>T	ENST00000324300.5	+	8	1705	c.1190C>T	c.(1189-1191)tCg>tTg	p.S397L	EDNRA_ENST00000511804.1_Missense_Mutation_p.S172L|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000358556.4_Missense_Mutation_p.S288L|EDNRA_ENST00000506066.1_Missense_Mutation_p.S288L	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	397					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	CTGATGACCTCGGTCCCCATG	0.552000													18	23					0	0	0.008871	0	0
GRIA1	2890	broad.mit.edu	37	5	153149834	153149834	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:153149834C>T	ENST00000285900.5	+	13	2472	c.2129C>T	c.(2128-2130)tCc>tTc	p.S710F	GRIA1_ENST00000521843.2_Missense_Mutation_p.S641F|GRIA1_ENST00000518142.1_Missense_Mutation_p.S630F|GRIA1_ENST00000340592.5_Missense_Mutation_p.S710F|GRIA1_ENST00000518783.1_Missense_Mutation_p.S720F|GRIA1_ENST00000448073.4_Missense_Mutation_p.S720F	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	710					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTGAGGAAATCCAAAGGCAAA	0.478000													4	24					0	0	0.009096	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964781	88964781	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:88964781G>A	ENST00000333190.4	+	4	3094	c.2485G>A	c.(2485-2487)Gat>Aat	p.D829N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	829						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CATCTATTGTGATTCTAACTC	0.373000										HNSCC(36;0.09)			11	30					0	0	0.010729	0	0
ZNF679	168417	broad.mit.edu	37	7	63726795	63726795	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:63726795C>T	ENST00000421025.1	+	5	1053	c.784C>T	c.(784-786)Cat>Tat	p.H262Y	ZNF679_ENST00000255746.4_Missense_Mutation_p.H262Y	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TAGGAGAATTCATACTGGAGA	0.418000													3	6					0	0	0.009096	0	0
SMOX	54498	broad.mit.edu	37	20	4162483	4162483	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:4162483G>A	ENST00000305958.4	+	4	694	c.469G>A	c.(469-471)Gat>Aat	p.D157N	SMOX_ENST00000339123.6_Missense_Mutation_p.D157N|SMOX_ENST00000484515.1_3'UTR|SMOX_ENST00000379460.2_Missense_Mutation_p.D157N|SMOX_ENST00000278795.3_Missense_Mutation_p.D157N|SMOX_ENST00000346595.2_Intron	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	157					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	p.D157N(2)		breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	CTTCCGGCACGATAAACCAGT	0.532000													6	59					0	0	0.001984	0	0
TNRC18	84629	broad.mit.edu	37	7	5410863	5410863	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:5410863G>A	ENST00000399537.4	-	11	3710	c.3362C>T	c.(3361-3363)cCc>cTc	p.P1121L	TNRC18_ENST00000430969.1_Missense_Mutation_p.P1121L			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1121	Pro-rich.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CAGGCGCTCGGGCCCATCAGC	0.706000													9	28					0	0	0.006214	0	0
CYP4F3	4051	broad.mit.edu	37	19	15760877	15760877	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15760877G>A	ENST00000221307.7	+	7	850	c.802G>A	c.(802-804)Gat>Aat	p.D268N	CYP4F3_ENST00000591058.1_Missense_Mutation_p.D268N|CYP4F3_ENST00000585846.1_Missense_Mutation_p.D268N|CYP4F3_ENST00000592424.1_3'UTR|CYP4F3_ENST00000586182.1_Missense_Mutation_p.D268N	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	268					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CGACTTCACAGATGCCGTCAT	0.562000													28	82					0	0	0.003271	0	0
CACNA1E	777	broad.mit.edu	37	1	181754494	181754494	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:181754494G>A	ENST00000526775.1	+	41	5727	c.5562G>A	c.(5560-5562)atG>atA	p.M1854I	CACNA1E_ENST00000367567.4_Missense_Mutation_p.M1480I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.M1873I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.M1805I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.M1854I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.M1824I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.M1873I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1873					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						CAGCAATGATGATCATGGACT	0.483000													5	20					0	0	0.001168	0	0
MADD	8567	broad.mit.edu	37	11	47330565	47330565	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:47330565G>A	ENST00000311027.5	+	26	4068	c.3903G>A	c.(3901-3903)gaG>gaA	p.E1301E	MADD_ENST00000402799.1_Intron|MADD_ENST00000405573.2_Silent_p.E111E|MADD_ENST00000395344.3_Intron|MADD_ENST00000407859.3_Intron|MADD_ENST00000406482.1_Intron|MADD_ENST00000342922.4_Intron|MADD_ENST00000402192.2_Intron|MADD_ENST00000349238.3_Intron|MADD_ENST00000395336.3_Silent_p.E1301E	NM_003682.3	NP_003673.3	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1301					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		ACCAGTTAGAGGATGCAGCTA	0.478000													30	78					0	0	0.004289	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767510	143767510	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:143767510G>A	ENST00000419275.1	-	1	371	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	113	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						CAGTGCAGATGAAAAACTGGG	0.478000													19	282					0	0	0.008361	0	0
UGT1A5	54579	broad.mit.edu	37	2	234622403	234622403	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:234622403C>T	ENST00000373414.3	+	1	766	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L	UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron	NM_019078.1	NP_061951.1														cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		ATCTGTGTGGCTGTTCCGAGG	0.527000													42	74					0	0	0.010771	0	0
EIF3F	8665	broad.mit.edu	37	11	8016539	8016539	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:8016539C>T	ENST00000533626.1	+	8	1382	c.756C>T	c.(754-756)atC>atT	p.I252I	EIF3F_ENST00000309828.4_Silent_p.I252I|EIF3F_ENST00000449102.2_Silent_p.I103I|EIF3F_ENST00000537635.1_Silent_p.I267I			O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3, subunit F	252						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTGACCTGATCATGAAGACCT	0.522000													19	40					0	0	0.003330	0	0
BRINP3	339479	broad.mit.edu	37	1	190067341	190067341	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:190067341A>T	ENST00000367462.3	-	8	2339	c.2108T>A	c.(2107-2109)cTa>cAa	p.L703Q	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.L601Q	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		703						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GATCTCTAGTAGTTGCAAAAG	0.483000													23	50					0	0	0.012319	0	0
VCPIP1	80124	broad.mit.edu	37	8	67547298	67547298	+	Missense_Mutation	SNP	G	G	A	rs142699780	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:67547298G>A	ENST00000310421.4	-	3	3365	c.3107C>T	c.(3106-3108)tCt>tTt	p.S1036F		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	1036					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TGGGTTACCAGATGCAGTTCC	0.403000													39	50					0	0	0.004878	0	0
RP1L1	94137	broad.mit.edu	37	8	10473967	10473967	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:10473967C>T	ENST00000382483.3	-	3	963	c.740G>A	c.(739-741)aGa>aAa	p.R247K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	247					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GTTTTTGTTTCTTGAAGTCAG	0.512000													21	38					0	0	0.014323	0	0
IGSF10	285313	broad.mit.edu	37	3	151166168	151166168	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:151166168C>T	ENST00000282466.3	-	4	1600	c.1601G>A	c.(1600-1602)gGa>gAa	p.G534E		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	534	Ig-like C2-type 1.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCCAATTTTCCACTTTTGTC	0.443000													26	128					0	0	0.010818	0	0
ACADS	35	broad.mit.edu	37	12	121174915	121174915	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:121174915G>A	ENST00000242592.4	+	3	488	c.337G>A	c.(337-339)Gga>Aga	p.G113R	ACADS_ENST00000411593.2_Missense_Mutation_p.G113R	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	113						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CGCCTCCACCGGAGTCATCAT	0.677000													105	68					0	0	0.014410	0	0
OR6K3	391114	broad.mit.edu	37	1	158687109	158687109	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158687109G>A	ENST00000368146.1	-	1	844	c.845C>T	c.(844-846)cCa>cTa	p.P282L	OR6K3_ENST00000368145.1_Missense_Mutation_p.P266L			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CAAAACTGGTGGATAAGTGTC	0.448000													23	49					0	0	0.014323	0	0
GCSAM	257144	broad.mit.edu	37	3	111844080	111844080	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:111844080G>C	ENST00000308910.4	-	5	396	c.212C>G	c.(211-213)cCc>cGc	p.P71R	C3orf52_ENST00000467942.2_Intron|GCSAM_ENST00000484193.1_Missense_Mutation_p.P73R	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1			germinal center-associated, signaling and motility																		TACCTGGATGGGAGTAGATGA	0.403000													7	51					0	0	0.006214	0	0
TGM3	7053	broad.mit.edu	37	20	2312850	2312850	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:2312850G>A	ENST00000381458.5	+	10	1599	c.1536G>A	c.(1534-1536)acG>acA	p.T512T		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	512					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GCAGGGATACGAAGACAGTGA	0.537000													9	12					0	0	0.006214	0	0
OR51B5	282763	broad.mit.edu	37	11	5364400	5364400	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5364400C>T	ENST00000300773.2	-	1	409	c.355G>A	c.(355-357)Gac>Aac	p.D119N	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATAAAACGGTCATAGGCCATG	0.473000													17	43					0	0	0.004007	0	0
KIAA0556	23247	broad.mit.edu	37	16	27733009	27733009	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:27733009C>T	ENST00000261588.4	+	14	1755	c.1736C>T	c.(1735-1737)gCt>gTt	p.A579V	KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	579										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TACTGGACAGCTGATGGCGTA	0.502000													6	22					0	0	0.001984	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060370	35060370	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:35060370G>A	ENST00000373913.3	+	3	730	c.250G>A	c.(250-252)Gag>Aag	p.E84K	DLGAP4_ENST00000339266.5_Missense_Mutation_p.E84K|DLGAP4_ENST00000401952.2_Missense_Mutation_p.E84K|DLGAP4_ENST00000373907.2_Missense_Mutation_p.E84K			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	84					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CGAGGTGCCAGAGGAGAGCCC	0.632000													9	38					0	0	0.010729	0	0
F2R	2149	broad.mit.edu	37	5	76028198	76028198	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:76028198G>A	ENST00000319211.4	+	2	413	c.148G>A	c.(148-150)Gat>Aat	p.D50N		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	50					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	GAACCCCAATGATAAATATGA	0.328000													6	43					0	0	0.001984	0	0
ZNF484	83744	broad.mit.edu	37	9	95609097	95609097	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:95609097G>A	ENST00000395505.2	-	3	1956	c.1864C>T	c.(1864-1866)Cac>Tac	p.H622Y	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Missense_Mutation_p.H658Y|ZNF484_ENST00000332591.6_Missense_Mutation_p.H622Y|ZNF484_ENST00000395506.3_Missense_Mutation_p.H660Y	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	658					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TCTCCAGTGTGAATTTTCTGG	0.428000													13	52					0	0	0.001855	0	0
OR5T1	390155	broad.mit.edu	37	11	56043514	56043514	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:56043514C>T	ENST00000313033.2	+	1	486	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R134S(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GGCTTATGATCGCTATGTAGC	0.413000													40	113					0	0	0.010771	0	0
C5	727	broad.mit.edu	37	9	123768255	123768255	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:123768255C>T	ENST00000223642.1	-	20	2533	c.2504G>A	c.(2503-2505)cGa>cAa	p.R835Q	C5_ENST00000466280.1_5'UTR	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	835					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CTGTTCTCCTCGTACAACAGA	0.388000													21	25					0	0	0.010504	0	0
ZNF768	79724	broad.mit.edu	37	16	30536387	30536387	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:30536387G>A	ENST00000380412.5	-	2	1249	c.1074C>T	c.(1072-1074)tcC>tcT	p.S358S	ZNF768_ENST00000562803.1_Silent_p.S327S	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	358					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GCAGGAGGTAGGAGCTGTCGC	0.637000													8	17					0	0	0.008291	0	0
KLHL4	56062	broad.mit.edu	37	X	86887277	86887277	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:86887277C>T	ENST00000373119.4	+	7	1537	c.1392C>T	c.(1390-1392)ggC>ggT	p.G464G	KLHL4_ENST00000373114.4_Silent_p.G464G	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	464						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						CCATGAATGGCCGTAGGCTTC	0.388000													17	8					0	0	0.004007	0	0
GEN1	348654	broad.mit.edu	37	2	17950072	17950072	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:17950072T>G	ENST00000381254.2	+	6	918	c.704T>G	c.(703-705)cTt>cGt	p.L235R	GEN1_ENST00000317402.7_Missense_Mutation_p.L235R|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	235					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CAAAGTTTACTTCAGAGGTAA	0.323000								Homologous recombination					11	17					0	0	0.010729	0	0
LIPE	3991	broad.mit.edu	37	19	42910379	42910379	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:42910379G>A	ENST00000244289.4	-	7	2575	c.2299C>T	c.(2299-2301)Ctg>Ttg	p.L767L	LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	767					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				AGGCTCAGCAGGCGGGAGGGA	0.657000													15	25					0	0	0.002450	0	0
SLC5A12	159963	broad.mit.edu	37	11	26743205	26743205	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:26743205G>A	ENST00000396005.3	-	1	366	c.57C>T	c.(55-57)ttC>ttT	p.F19F	SLC5A12_ENST00000280467.6_Silent_p.F19F	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	19					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CAGAGGAAATGAAAAAGAGGG	0.448000													24	53					0	0	0.005443	0	0
HIVEP2	3097	broad.mit.edu	37	6	143074907	143074907	+	Silent	SNP	G	G	A	rs140448659	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:143074907G>A	ENST00000367603.2	-	10	7420	c.6678C>T	c.(6676-6678)atC>atT	p.I2226I	HIVEP2_ENST00000367604.1_Silent_p.I2226I|HIVEP2_ENST00000012134.2_Silent_p.I2226I	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GCACCATGGGGATAGGGGCTC	0.547000													20	52					0	0	0.010504	0	0
CCDC144A	9720	broad.mit.edu	37	17	16593718	16593718	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:16593718G>A	ENST00000443444.2	+	1	144	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	CCDC144A_ENST00000399273.1_Missense_Mutation_p.A2T|CCDC144A_ENST00000340621.5_Missense_Mutation_p.A2T|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000456009.1_Missense_Mutation_p.A2T|CCDC144A_ENST00000360524.8_Missense_Mutation_p.A2T|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.A2T			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	2																	GCTACTGATGGCCTCCTGGGG	0.647000													4	3					0	0	0.009096	0	0
MUC17	140453	broad.mit.edu	37	7	100699524	100699524	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100699524C>T	ENST00000306151.4	+	12	13477	c.13413C>T	c.(13411-13413)tcC>tcT	p.S4471S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4471						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCAGCCCTCCTTGAGACACA	0.493000													23	28					0	0	0.003330	0	0
SORCS1	114815	broad.mit.edu	37	10	108427498	108427498	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:108427498G>A	ENST00000263054.6	-	17	2259	c.2252C>T	c.(2251-2253)tCc>tTc	p.S751F	SORCS1_ENST00000344440.6_Missense_Mutation_p.S751F|SORCS1_ENST00000369698.1_Missense_Mutation_p.S286F	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	751						integral to membrane	neuropeptide receptor activity|protein binding			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)		TGACAGAGAGGATGGATTGAA	0.493000													6	16					0	0	0.001984	0	0
TMEM246	84302	broad.mit.edu	37	9	104238324	104238324	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:104238324G>A	ENST00000374851.1	-	4	2198	c.1051C>T	c.(1051-1053)Ctg>Ttg	p.L351L	TMEM246_ENST00000374848.3_Silent_p.L351L|TMEM246_ENST00000374847.1_Silent_p.L351L|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA			Q9BRR3	CI125_HUMAN	transmembrane protein 246	351						integral to membrane											ACTTGGGACAGGTAGGTGAGG	0.617000													6	25					0	0	0.001168	0	0
HCK	3055	broad.mit.edu	37	20	30672286	30672286	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:30672286C>T	ENST00000534862.1	+	9	1078	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	HCK_ENST00000538448.1_Missense_Mutation_p.R238W|HCK_ENST00000375852.2_Missense_Mutation_p.R259W|HCK_ENST00000518730.1_Missense_Mutation_p.R237W|HCK_ENST00000375862.2_Missense_Mutation_p.R258W|HCK_ENST00000520553.1_Missense_Mutation_p.R238W	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	259	SH2.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGAGATCCCTCGGGAATCCCT	0.602000													5	37					0	0	0.001168	0	0
THSD7B	80731	broad.mit.edu	37	2	137988648	137988648	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:137988648C>T	ENST00000409968.1	+	8	1936	c.1758C>T	c.(1756-1758)ccC>ccT	p.P586P	THSD7B_ENST00000272643.3_Silent_p.P586P|THSD7B_ENST00000413152.2_Silent_p.P555P|THSD7B_ENST00000543459.1_Intron					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)		GCCCAGTTCCCCCTCCTCCTG	0.473000													8	27					0	0	0.004482	0	0
OR2H2	7932	broad.mit.edu	37	6	29556431	29556431	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:29556431G>A	ENST00000383640.2	+	1	749	c.710G>A	c.(709-711)gGg>gAg	p.G237E	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	237					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G237V(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						AAAGCTTTTGGGACCTGCTCC	0.532000													13	56					0	0	0.002450	0	0
DLEC1	9940	broad.mit.edu	37	3	38134316	38134316	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:38134316G>A	ENST00000308059.6	+	11	1722	c.1701G>A	c.(1699-1701)gaG>gaA	p.E567E	DLEC1_ENST00000346219.3_Silent_p.E567E|DLEC1_ENST00000452631.2_Silent_p.E567E			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	567					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GAAAGGCAGAGCAGACCTTCA	0.572000													28	66					0	0	0.008361	0	0
SLC22A10	387775	broad.mit.edu	37	11	63072291	63072291	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:63072291C>T	ENST00000332793.6	+	9	1530	c.1528C>T	c.(1528-1530)Ctt>Ttt	p.L510F	SLC22A10_ENST00000544661.1_3'UTR|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	510						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CATTGGTGGCCTTATTGTCTT	0.448000													27	55					0	0	0.006320	0	0
HMG20B	10362	broad.mit.edu	37	19	3574473	3574473	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:3574473C>T	ENST00000333651.6	+	4	315	c.240C>T	c.(238-240)ttC>ttT	p.F80F		NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B	80					blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTGCGCTTCCTGAACGAGC	0.642000													6	10					0	0	0.003080	0	0
ACMSD	130013	broad.mit.edu	37	2	135630121	135630121	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:135630121G>A	ENST00000356140.5	+	8	895	c.759G>A	c.(757-759)atG>atA	p.M253I	AC016725.4_ENST00000428857.1_RNA|AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000283054.4_Missense_Mutation_p.M195I|AC016725.4_ENST00000413962.1_RNA|ACMSD_ENST00000392928.1_Missense_Mutation_p.M195I|AC016725.4_ENST00000537615.1_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	253					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		ACAACCCCATGAACCCGAAGA	0.493000													14	30					0	0	0.003163	0	0
PCLO	27445	broad.mit.edu	37	7	82595680	82595680	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82595680C>T	ENST00000423517.2	-	4	3761	c.3424G>A	c.(3424-3426)Gaa>Aaa	p.E1142K	PCLO_ENST00000333891.8_Missense_Mutation_p.E1142K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1081					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GATGATGATTCTGTAGGAACA	0.433000													33	43					0	0	0.012213	0	0
AFF3	3899	broad.mit.edu	37	2	100167982	100167982	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:100167982G>A	ENST00000317233.4	-	24	3870	c.3635C>T	c.(3634-3636)tCc>tTc	p.S1212F	AFF3_ENST00000409236.1_Missense_Mutation_p.S1212F|AFF3_ENST00000356421.2_Missense_Mutation_p.S1237F|AFF3_ENST00000409579.1_Missense_Mutation_p.S1237F	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1212					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						GCCCTGTTGGGAGTACTGGAC	0.592000													6	31					0	0	0.001168	0	0
CDK18	5129	broad.mit.edu	37	1	205494285	205494285	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:205494285A>T	ENST00000360066.2	+	5	719	c.418A>T	c.(418-420)Aaa>Taa	p.K140*	CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Nonsense_Mutation_p.K140*|CDK18_ENST00000506784.1_Nonsense_Mutation_p.K170*	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	138							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						TGGCTTTGGGAAACTGGAAAC	0.542000													10	27					0	0	0.004007	0	0
LHCGR	3973	broad.mit.edu	37	2	48915774	48915774	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:48915774G>A	ENST00000294954.7	-	11	1183	c.1162C>T	c.(1162-1164)Cgt>Tgt	p.R388C	LHCGR_ENST00000344775.3_Missense_Mutation_p.R326C|LHCGR_ENST00000405626.1_Missense_Mutation_p.R361C|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_Intron|LHCGR_ENST00000401907.1_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	388					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AGTTTGTAACGACTTGTCAGG	0.428000													21	35					0	0	0.010504	0	0
KCNU1	157855	broad.mit.edu	37	8	36663823	36663823	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:36663823G>A	ENST00000399881.3	+	5	542	c.505G>A	c.(505-507)Gag>Aag	p.E169K		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	169						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GTTCTGGCTGGAGATGAATTC	0.378000													6	9					0	0	0.001168	0	0
KEL	3792	broad.mit.edu	37	7	142650976	142650976	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142650976G>A	ENST00000355265.2	-	9	1466	c.992C>T	c.(991-993)cCt>cTt	p.P331L	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	331					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GGACTGAGAAGGGCTCAGGGA	0.537000													45	91					0	0	0.013114	0	0
CCDC135	84229	broad.mit.edu	37	16	57738868	57738868	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:57738868G>A	ENST00000360716.3	+	7	1001	c.780G>A	c.(778-780)caG>caA	p.Q260Q	CCDC135_ENST00000336825.8_Silent_p.Q195Q|CCDC135_ENST00000394337.4_Silent_p.Q260Q			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	260						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGTTTGAGCAGGAGCAAGAGG	0.562000													16	30					0	0	0.004007	0	0
OR5F1	338674	broad.mit.edu	37	11	55761292	55761292	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:55761292C>T	ENST00000278409.1	-	1	809	c.810G>A	c.(808-810)caG>caA	p.Q270Q		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CCACTTTGTCCTGATTCAGGG	0.468000													26	57					0	0	0.004656	0	0
EBF1	1879	broad.mit.edu	37	5	158204487	158204487	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:158204487C>T	ENST00000313708.6	-	10	1252	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	EBF1_ENST00000517373.1_Missense_Mutation_p.E316K|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.E293K	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	324	IPT/TIG.				multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTGTGACTTCCACAACACCA	0.483000			T	HMGA2	lipoma								14	52					0	0	0.003163	0	0
USH2A	7399	broad.mit.edu	37	1	215987169	215987169	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:215987169C>T	ENST00000366943.2	-	49	10034	c.9648G>A	c.(9646-9648)ctG>ctA	p.L3216L	USH2A_ENST00000307340.3_Silent_p.L3216L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3216					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)		CAGTAGAATTCAGAACAAACG	0.438000										HNSCC(13;0.011)			28	32					0	0	0.005443	0	0
MMP24	10893	broad.mit.edu	37	20	33851659	33851659	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:33851659G>A	ENST00000246186.6	+	5	968	c.883G>A	c.(883-885)Gac>Aac	p.D295N	MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000453892.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000566203.1_RNA|EDEM2_ENST00000540582.1_Intron	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	295					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCACTCCAGCGACCCCAGCGC	0.622000													5	13					0	0	0.001168	0	0
SCN9A	6335	broad.mit.edu	37	2	167056260	167056260	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:167056260A>G	ENST00000375387.4	-	27	5232	c.4892T>C	c.(4891-4893)aTc>aCc	p.I1631T	SCN9A_ENST00000409672.1_Missense_Mutation_p.I1619T|SCN9A_ENST00000409435.1_Missense_Mutation_p.I1630T|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.I1631T			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1630						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CAGCGTGCGGATCCCCTTTGC	0.498000													31	53					0	0	0.008361	0	0
COL4A4	1286	broad.mit.edu	37	2	227954672	227954672	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:227954672C>T	ENST00000396625.3	-	21	1578	c.1369_splice	c.e21-1	p.V457_splice	COL4A4_ENST00000329662.7_Splice_Site_p.V457_splice	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	457	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TACAGTATATCACTGTCAAGG	0.478000													15	20					0	0	0.004007	0	0
SORCS3	22986	broad.mit.edu	37	10	106865239	106865239	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:106865239C>T	ENST00000369701.3	+	7	1405	c.1178C>T	c.(1177-1179)tCc>tTc	p.S393F		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	393						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GACATCAGTTCCCTGGTTGTC	0.498000													17	57					0	0	0.004990	0	0
GDF9	2661	broad.mit.edu	37	5	132197865	132197865	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:132197865G>A	ENST00000378673.2	-	3	1647	c.781C>T	c.(781-783)Ccc>Tcc	p.P261S	GDF9_ENST00000296875.2_Missense_Mutation_p.P261S			O60383	GDF9_HUMAN	growth differentiation factor 9	261					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCAGTGAGGGGGACACCAGA	0.438000													11	24					0	0	0.001855	0	0
TPTEP1	387590	broad.mit.edu	37	22	17117938	17117938	+	RNA	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:17117938T>A	ENST00000426585.1	+	0	238																											AGCAGCAAGATTAAGAAAATT	0.294000													5	24					0	0	0.001984	0	0
OR5T1	390155	broad.mit.edu	37	11	56043562	56043562	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:56043562C>T	ENST00000313033.2	+	1	534	c.448C>T	c.(448-450)Ccc>Tcc	p.P150S		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GAGCATGTCACCCAGAGTCTA	0.443000													54	125					0	0	0.014410	0	0
SERPINA10	51156	broad.mit.edu	37	14	94752521	94752521	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:94752521C>T	ENST00000554723.1	-	4	1605	c.1187G>A	c.(1186-1188)gGa>gAa	p.G396E	SERPINA10_ENST00000261994.4_Missense_Mutation_p.G356E|SERPINA10_ENST00000393096.1_Missense_Mutation_p.G356E|SERPINA10_ENST00000554173.1_Missense_Mutation_p.G356E			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	356					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)		TCTTCTGATTCCCATCTGCCT	0.433000													14	45					0	0	0.002450	0	0
TPTE	7179	broad.mit.edu	37	21	10969106	10969106	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:10969106C>T	ENST00000361285.4	-	7	471	c.142G>A	c.(142-144)Gga>Aga	p.G48R	TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Intron|TPTE_ENST00000298232.7_Intron	NM_199261.2	NP_954870.2	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	48					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CGGGCTGCTCCTTTAAATTCA	0.468000													31	97					0	0	0.007835	0	0
HECW2	57520	broad.mit.edu	37	2	197122610	197122610	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:197122610C>T	ENST00000260983.2	-	18	3538	c.3356G>A	c.(3355-3357)cGa>cAa	p.R1119Q	HECW2_ENST00000409111.1_Missense_Mutation_p.R763Q	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1119					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCCTTCAGTTCGGATAAATTG	0.403000													19	63					0	0	0.010504	0	0
SMAD9	4093	broad.mit.edu	37	13	37427707	37427707	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:37427707G>A	ENST00000379826.4	-	6	1451	c.1109C>T	c.(1108-1110)cCa>cTa	p.P370L	SMAD9_ENST00000350148.5_Missense_Mutation_p.P333L|SMAD9_ENST00000399275.2_Missense_Mutation_p.P370L	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	370	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GACGGTAGCTGGGTGGAAGCC	0.572000													7	16					0	0	0.003080	0	0
GLRA3	8001	broad.mit.edu	37	4	175649825	175649825	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:175649825G>A	ENST00000274093.3	-	4	794	c.292C>T	c.(292-294)Cgt>Tgt	p.R98C	GLRA3_ENST00000436738.1_5'UTR|GLRA3_ENST00000340217.5_Missense_Mutation_p.R98C	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	98					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	p.R98C(1)		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)	CATTTCTGACGAAGAAAGATA	0.383000													22	29					0	0	0.014323	0	0
SLC6A13	6540	broad.mit.edu	37	12	352957	352957	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:352957G>A	ENST00000343164.4	-	3	277	c.225C>T	c.(223-225)ctC>ctT	p.L75L	SLC6A13_ENST00000445055.2_Intron	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	75					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			AGAGGAAGACGAGGTAGGGGA	0.527000													16	16					0	0	0.004990	0	0
RIMS2	9699	broad.mit.edu	37	8	105263968	105263968	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:105263968C>T	ENST00000507740.1	+	22	3648	c.3412C>T	c.(3412-3414)Cca>Tca	p.P1138S	RIMS2_ENST00000436393.2_Missense_Mutation_p.P1342S|RIMS2_ENST00000262231.10_Missense_Mutation_p.P1163S|RIMS2_ENST00000339750.2_Missense_Mutation_p.P260S|RIMS2_ENST00000406091.3_Missense_Mutation_p.P1324S	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1386					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCTAGTAGATCCAACCTTGGC	0.433000										HNSCC(12;0.0054)			39	97					0	0	0.006999	0	0
MUC16	94025	broad.mit.edu	37	19	9072763	9072763	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9072763G>A	ENST00000397910.4	-	3	14886	c.14683C>T	c.(14683-14685)Cct>Tct	p.P4895S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4897	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						CTCAGTTTAGGAGTCAGGGAG	0.488000													67	146					0	0	0.014410	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148080978	148080978	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:148080978C>T	ENST00000361727.3	+	22	4229	c.3713C>T	c.(3712-3714)tCa>tTa	p.S1238L	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.S297L|CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1238					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CACCTGGATTCAGGTAAAGTC	0.547000										HNSCC(39;0.1)			7	14					0	0	0.003080	0	0
ASTN2	23245	broad.mit.edu	37	9	119976741	119976741	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:119976741C>T	ENST00000313400.4	-	3	1011	c.911G>A	c.(910-912)cGg>cAg	p.R304Q	ASTN2_ENST00000373996.3_Missense_Mutation_p.R304Q|ASTN2_ENST00000361209.2_Missense_Mutation_p.R304Q|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	304						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ATGGTTGGCCCGCCTAGGTGG	0.592000													11	50					0	0	0.008291	0	0
CDH10	1008	broad.mit.edu	37	5	24535818	24535818	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:24535818C>T	ENST00000264463.4	-	4	1147	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	214	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGACCTGTTTCAGGCTCCACA	0.428000										HNSCC(23;0.051)			4	25					0	0	0.001168	0	0
HRNR	388697	broad.mit.edu	37	1	152190845	152190845	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152190845G>A	ENST00000368801.2	-	3	3335	c.3260C>T	c.(3259-3261)tCg>tTg	p.S1087L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1087					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCACAGCTCGATGACTGTCC	0.562000													113	187					0	0	0.014410	0	0
PLCG2	5336	broad.mit.edu	37	16	81914536	81914536	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:81914536G>T	ENST00000359376.3	+	8	884	c.670G>T	c.(670-672)Gat>Tat	p.D224Y		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	224					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ATTCAAAAAGGATTCGTCCGT	0.498000													8	85					0.000157383	0.000170414	0.003080	1	0
KCNG1	3755	broad.mit.edu	37	20	49626804	49626804	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:49626804G>A	ENST00000371571.4	-	2	357	c.72C>T	c.(70-72)ttC>ttT	p.F24F	KCNG1_ENST00000396017.3_Silent_p.F24F	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	24						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						AGGCCGGGTGGAAGGAGGCGT	0.677000													8	29					0	0	0.004482	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222568	140222568	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140222568C>T	ENST00000531613.1	+	1	1662	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.F554F|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_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)			TGCAGGTGTTCGTGCTGGACG	0.701000													17	44					0	0	0.006122	0	0
LDHC	3948	broad.mit.edu	37	11	18451403	18451403	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:18451403C>T	ENST00000541669.1	+	4	475	c.364C>T	c.(364-366)Cct>Tct	p.P122S	LDHC_ENST00000535809.1_Missense_Mutation_p.P122S|LDHC_ENST00000546146.1_Intron|LDHC_ENST00000537486.1_Missense_Mutation_p.P122S|LDHC_ENST00000280704.4_Missense_Mutation_p.P122S|LDHC_ENST00000544105.1_Missense_Mutation_p.P122S|LDHC_ENST00000536880.1_Missense_Mutation_p.P108S			P07864	LDHC_HUMAN	lactate dehydrogenase C	122					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	ATCAATCATTCCTGCCATAGT	0.423000													14	56					0	0	0.002450	0	0
NLRP13	126204	broad.mit.edu	37	19	56423744	56423744	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:56423744C>T	ENST00000588751.1	-	5	1463	c.1439G>A	c.(1438-1440)tGg>tAg	p.W480*	NLRP13_ENST00000342929.3_Nonsense_Mutation_p.W480*			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	480	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GAGGGCCCTCCATTGTCCTGG	0.488000													27	39					0	0	0.006320	0	0
TENM3	55714	broad.mit.edu	37	4	183664443	183664443	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:183664443C>T	ENST00000511685.1	+	19	3623	c.3500C>T	c.(3499-3501)gCt>gTt	p.A1167V	TENM3_ENST00000406950.2_Missense_Mutation_p.A1167V|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		AATGGTCAAGCTGATGGTAAC	0.547000													13	17					0	0	0.013537	0	0
PRMT2	3275	broad.mit.edu	37	21	48068379	48068379	+	Silent	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:48068379T>C	ENST00000397637.1	+	5	1291	c.337T>C	c.(337-339)Ttg>Ctg	p.L113L	PRMT2_ENST00000397638.2_Silent_p.L113L|PRMT2_ENST00000291705.6_Silent_p.L113L|PRMT2_ENST00000451211.2_Silent_p.L113L|PRMT2_ENST00000334494.4_Silent_p.L113L|PRMT2_ENST00000397628.1_Silent_p.L113L|PRMT2_ENST00000355680.3_Silent_p.L113L|PRMT2_ENST00000491389.1_3'UTR|PRMT2_ENST00000458387.2_Silent_p.L113L|PRMT2_ENST00000440086.1_Silent_p.L113L			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	113	Interaction with RB1 (By similarity).				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		GAAACTCCACTTGGAGATGTT	0.502000													28	24					0	0	0.004656	0	0
SLC22A10	387775	broad.mit.edu	37	11	63067087	63067087	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:63067087C>T	ENST00000544661.1	+	7	1019	c.591C>T	c.(589-591)atC>atT	p.I197I	SLC22A10_ENST00000526800.1_Silent_p.I192I|SLC22A10_ENST00000535888.1_Silent_p.I142I|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000332793.6_Silent_p.I352I			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	352						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGATCTGTATCCTGGTATTTT	0.423000													13	17					0	0	0.001855	0	0
SHROOM1	134549	broad.mit.edu	37	5	132161789	132161789	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:132161789G>A	ENST00000378679.3	-	4	848	c.44C>T	c.(43-45)tCg>tTg	p.S15L	SHROOM1_ENST00000378676.1_Missense_Mutation_p.S15L|SHROOM1_ENST00000319854.3_Missense_Mutation_p.S15L	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	15					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTAGTGGACGAGGCCGGGGA	0.701000													4	14					0	0	0.000602	0	0
DNAH17	8632	broad.mit.edu	37	17	76525737	76525737	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:76525737C>T	ENST00000389840.5	-	22	3448	c.3324G>A	c.(3322-3324)atG>atA	p.M1108I	DNAH17_ENST00000585328.1_Missense_Mutation_p.M1105I					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGGTCAAGCCCATTCTGGCGA	0.582000													23	13					0	0	0.003330	0	0
LCA5	167691	broad.mit.edu	37	6	80197078	80197078	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:80197078G>A	ENST00000392959.1	-	9	2348	c.1737C>T	c.(1735-1737)ttC>ttT	p.F579F	LCA5_ENST00000369846.4_Silent_p.F579F	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	579					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TGTTTCTTTGGAAATCCAAAA	0.353000													15	41					0	0	0.003163	0	0
SRGAP3	9901	broad.mit.edu	37	3	9055023	9055023	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:9055023C>T	ENST00000383836.3	-	17	2543	c.2116G>A	c.(2116-2118)Gaa>Aaa	p.E706K	SRGAP3_ENST00000360413.3_Missense_Mutation_p.E682K	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	706					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		ATGCATTTTTCATACACAGGT	0.433000			T	RAF1	pilocytic astrocytoma								21	31					0	0	0.014323	0	0
ALPK3	57538	broad.mit.edu	37	15	85399721	85399721	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:85399721C>T	ENST00000258888.5	+	6	2525	c.2358C>T	c.(2356-2358)atC>atT	p.I786I		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	786					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTCAAGGTATCATTGAACCCA	0.517000													13	34					0	0	0.002450	0	0
CHD5	26038	broad.mit.edu	37	1	6191793	6191793	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:6191793C>T	ENST00000262450.3	-	21	3259	c.3160G>A	c.(3160-3162)Gac>Aac	p.D1054N	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1054	Helicase C-terminal.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCCAGGAGGTCCAGCATCTTG	0.632000													20	38					0	0	0.014323	0	0
CUL4B	8450	broad.mit.edu	37	X	119674287	119674287	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:119674287G>A	ENST00000371322.5	-	11	1635	c.1574C>T	c.(1573-1575)gCc>gTc	p.A525V	CUL4B_ENST00000404115.3_Missense_Mutation_p.A543V|CUL4B_ENST00000336592.6_Missense_Mutation_p.A530V	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	543					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTCTTTCATGGCATTGATAAA	0.313000													6	17					0	0	0.003080	0	0
CPN1	1369	broad.mit.edu	37	10	101816839	101816839	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:101816839A>T	ENST00000370418.3	-	6	1193	c.942T>A	c.(940-942)ttT>ttA	p.F314L		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	314	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CTTCGGGGGGAAACTTGTCGC	0.473000													41	130					0	0	0.014410	0	0
KCNH6	81033	broad.mit.edu	37	17	61611507	61611507	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:61611507C>T	ENST00000583023.1	+	5	947	c.936C>T	c.(934-936)gtC>gtT	p.V312V	KCNH6_ENST00000456941.2_Silent_p.V312V|KCNH6_ENST00000580652.1_Silent_p.V312V|KCNH6_ENST00000581784.1_Silent_p.V312V|KCNH6_ENST00000314672.5_Silent_p.V312V	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	312					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TCATGTTCGTCGTGGACATCG	0.582000													22	157					0	0	0.003954	0	0
CYP2C18	1562	broad.mit.edu	37	10	96484114	96484114	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:96484114G>T	ENST00000285979.6	+	7	1172	c.973G>T	c.(973-975)Gaa>Taa	p.E325*	CYP2C18_ENST00000339022.5_Nonsense_Mutation_p.E266*|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TAAAGTCCAGGAAGAGATTGA	0.453000													10	46					2.80697e-09	3.06475e-09	0.010729	1	0
KDM7A	80853	broad.mit.edu	37	7	139791651	139791651	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:139791651T>A	ENST00000397560.2	-	19	2781	c.2684A>T	c.(2683-2685)aAg>aTg	p.K895M		NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		895					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TGCCGGTCTCTTGGTGGGGTG	0.483000													11	121					0	0	0.004007	0	0
PLBD1	79887	broad.mit.edu	37	12	14693812	14693812	+	Silent	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:14693812T>C	ENST00000240617.5	-	4	1096	c.444A>G	c.(442-444)aaA>aaG	p.K148K		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	148					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						CTTTGATATTTTTCCGGGTCC	0.398000													64	33					0	0	0.014410	0	0
TECTA	7007	broad.mit.edu	37	11	120979942	120979942	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:120979942C>T	ENST00000392793.1	+	4	492	c.221C>T	c.(220-222)tCc>tTc	p.S74F	TECTA_ENST00000264037.2_Missense_Mutation_p.S74F			O75443	TECTA_HUMAN	tectorin alpha	74					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGAGTTGTTTCCTTCAATGTG	0.458000													10	17					0	0	0.006214	0	0
CCDC54	84692	broad.mit.edu	37	3	107096817	107096817	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:107096817C>T	ENST00000261058.1	+	1	630	c.383C>T	c.(382-384)tCt>tTt	p.S128F		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	128										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GATATCCTCTCTATGAAAGAA	0.393000													5	12					0	0	0.001984	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7672755	7672755	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:7672755G>A	ENST00000446248.2	+	6	803		c.e6+1		CAMSAP3_ENST00000160298.4_Intron	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3						epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						ACCCCCCATGGTAATGTATCC	0.657000													15	11					0	0	0.006122	0	0
NXPE4	54827	broad.mit.edu	37	11	114453029	114453029	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:114453029C>T	ENST00000375478.3	-	3	991	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		AGGCTCTTTTCTTGTTTGCTA	0.383000													11	33					0	0	0.010729	0	0
COL12A1	1303	broad.mit.edu	37	6	75899049	75899049	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:75899049C>T	ENST00000322507.8	-	7	1016	c.707G>A	c.(706-708)gGg>gAg	p.G236E	COL12A1_ENST00000483888.2_Missense_Mutation_p.G236E|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.G236E	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	236	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AACTCTTGCCCCAGCAGATTC	0.378000													7	22					0	0	0.001984	0	0
TG	7038	broad.mit.edu	37	8	133923647	133923647	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:133923647C>T	ENST00000220616.4	+	19	4068	c.4028C>T	c.(4027-4029)tCc>tTc	p.S1343F	TG_ENST00000377869.1_Missense_Mutation_p.S1343F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1343					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACCCTGGTTTCCATTCCTGTC	0.488000													45	65					0	0	0.014410	0	0
CNTN5	53942	broad.mit.edu	37	11	99690398	99690398	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:99690398G>A	ENST00000524871.1	+	4	469	c.179G>A	c.(178-180)gGa>gAa	p.G60E	CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000528682.1_Missense_Mutation_p.G60E|CNTN5_ENST00000527185.1_Missense_Mutation_p.G60E|CNTN5_ENST00000279463.3_Missense_Mutation_p.G60E	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	60					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCTTCATTAGGAACACTGAGT	0.433000													18	31					0	0	0.004990	0	0
TAS1R1	80835	broad.mit.edu	37	1	6634974	6634974	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:6634974G>C	ENST00000333172.6	+	3	975	c.782G>C	c.(781-783)cGc>cCc	p.R261P	TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Missense_Mutation_p.R261P	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	261					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TGCCTCATGCGCCACCTGGCC	0.612000													14	55					0	0	0.002450	0	0
TRBV5-7	28608	broad.mit.edu	37	7	142111506	142111506	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142111506C>T	ENST00000390378.1	-	0	229																											AGGGAAGTTTCCTCTTCCTCT	0.507000													19	60					0	0	0.008871	0	0
FAT4	79633	broad.mit.edu	37	4	126412421	126412421	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:126412421C>T	ENST00000394329.3	+	17	14457	c.14444C>T	c.(14443-14445)tCa>tTa	p.S4815L	FAT4_ENST00000335110.5_Missense_Mutation_p.S3056L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4815					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						AGGTCTTCTTCAGAGGAGGAC	0.507000													18	18					0	0	0.008871	0	0
ACKR2	1238	broad.mit.edu	37	3	42906396	42906396	+	Silent	SNP	C	C	T	rs146152018		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:42906396C>T	ENST00000422265.1	+	3	577	c.402C>T	c.(400-402)ttC>ttT	p.F134F	KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000273145.2_Silent_p.F134F|ACKR2_ENST00000471537.1_Intron|ACKR2_ENST00000442925.1_Silent_p.F134F|CYP8B1_ENST00000437102.1_Intron	NM_001296.4	NP_001287.2			atypical chemokine receptor 2									p.F134F(1)									GCATCTTTTTCATTAGCTGCA	0.517000													34	129					0	0	0.007835	0	0
OR2B2	81697	broad.mit.edu	37	6	27879581	27879581	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:27879581C>T	ENST00000303324.2	-	1	593	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						TGATCCACTTCTTTGTGACCA	0.463000													33	43					0	0	0.012213	0	0
A1CF	29974	broad.mit.edu	37	10	52573620	52573620	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:52573620G>A	ENST00000395489.2	-	12	1719	c.1323C>T	c.(1321-1323)ccC>ccT	p.P441P	A1CF_ENST00000374001.1_Silent_p.P440P|A1CF_ENST00000373993.1_Silent_p.P448P|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395495.1_Silent_p.P393P|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373997.3_Silent_p.P440P|A1CF_ENST00000282641.2_Silent_p.P448P|A1CF_ENST00000373995.3_Silent_p.P448P	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	448					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TACCTACCTGGGGAGCGAGTT	0.388000													17	47					0	0	0.007413	0	0
SLC35A4	113829	broad.mit.edu	37	5	139946813	139946813	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:139946813C>T	ENST00000514199.1	+	2	1745	c.59C>T	c.(58-60)aCc>aTc	p.T20I	APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.T20I|SLC35A4_ENST00000508770.1_3'UTR			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	20						Golgi membrane|integral to membrane	sugar:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCGCTGGACCCTGATGCTA	0.647000													17	59					0	0	0.006122	0	0
ACSL5	51703	broad.mit.edu	37	10	114169281	114169281	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:114169281G>A	ENST00000393081.1	+	7	856	c.549G>A	c.(547-549)gtG>gtA	p.V183V	ACSL5_ENST00000433418.1_Silent_p.V183V|ACSL5_ENST00000354655.4_Silent_p.V183V|ACSL5_ENST00000356116.1_Silent_p.V239V|ACSL5_ENST00000354273.4_Silent_p.V183V	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	183					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TCGCCATGGTGATCTGTGACA	0.478000													17	74					0	0	0.010504	0	0
THSD7A	221981	broad.mit.edu	37	7	11633072	11633072	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:11633072C>G	ENST00000423059.3	-	3	1331	c.1080G>C	c.(1078-1080)gaG>gaC	p.E360D		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	360	TSP type-1 3.					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)		AAACCTGGCACTCTTTGGTGA	0.507000										HNSCC(18;0.044)			42	49					0	0	0.008740	0	0
RGPD4	285190	broad.mit.edu	37	2	108475844	108475844	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:108475844C>T	ENST00000408999.3	+	11	1545	c.1468C>T	c.(1468-1470)Ctt>Ttt	p.L490F	RGPD4_ENST00000354986.4_Missense_Mutation_p.L490F	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	490					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GGTATTTCTCCTTGGAGTAGT	0.313000													22	51					0	0	0.013726	0	0
OR2J3	442186	broad.mit.edu	37	6	29079901	29079901	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:29079901C>T	ENST00000377169.1	+	1	234	c.234C>T	c.(232-234)acC>acT	p.T78T		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						GCTACACCACCAGCTCTATCC	0.473000													52	109					0	0	0.014410	0	0
EPHB2	2048	broad.mit.edu	37	1	23111267	23111267	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:23111267C>T	ENST00000400191.3	+	3	527	c.509C>T	c.(508-510)tCc>tTc	p.S170F	EPHB2_ENST00000544305.1_Missense_Mutation_p.S170F|EPHB2_ENST00000374630.3_Missense_Mutation_p.S170F|EPHB2_ENST00000374627.1_Missense_Mutation_p.S164F|EPHB2_ENST00000374632.3_Missense_Mutation_p.S170F	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	170					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GGACCTGTGTCCCGCAGCGGC	0.607000													8	24					0	0	0.003080	0	0
SNX9	51429	broad.mit.edu	37	6	158296089	158296089	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:158296089C>T	ENST00000392185.3	+	4	352	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S	RP11-52J3.2_ENST00000422776.1_RNA|RP11-52J3.2_ENST00000457427.1_RNA	NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	61	SH3.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		TCAGATTTTACCCAGTGATGG	0.443000													7	44					0	0	0.003080	0	0
TACC2	10579	broad.mit.edu	37	10	123970371	123970371	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:123970371C>T	ENST00000369005.1	+	9	6771	c.6431C>T	c.(6430-6432)cCc>cTc	p.P2144L	TACC2_ENST00000334433.3_Missense_Mutation_p.P2144L|TACC2_ENST00000358010.1_Missense_Mutation_p.P290L|TACC2_ENST00000515273.1_Missense_Mutation_p.P2148L|TACC2_ENST00000515603.1_Missense_Mutation_p.P2099L|TACC2_ENST00000368999.1_Missense_Mutation_p.P222L|TACC2_ENST00000360561.3_Missense_Mutation_p.P222L|TACC2_ENST00000260733.3_Missense_Mutation_p.P222L|TACC2_ENST00000453444.2_Missense_Mutation_p.P2148L|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000369004.3_Missense_Mutation_p.P222L|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000513429.1_Missense_Mutation_p.P290L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2144						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACCAAGAAACCCACAGAGACC	0.507000													13	75					0	0	0.013537	0	0
PEX2	5828	broad.mit.edu	37	8	77895647	77895647	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:77895647G>A	ENST00000419564.2	-	4	1232	c.768C>T	c.(766-768)acC>acT	p.T256T	PEX2_ENST00000520103.1_Silent_p.T256T|PEX2_ENST00000357039.4_Silent_p.T256T|PEX2_ENST00000522527.1_Silent_p.T256T	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	256					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						CACATCCTATGGTGTGAGGCA	0.438000													13	63					0	0	0.003163	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208725854	208725854	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:208725854G>A	ENST00000427836.2	-	7	2572	c.2083C>T	c.(2083-2085)Cct>Tct	p.P695S	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.P695S	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	695					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCTCAAAAGGGTAGAGGATC	0.403000													27	83					0	0	0.012213	0	0
PSG3	5671	broad.mit.edu	37	19	43242934	43242934	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:43242934G>A	ENST00000327495.5	-	2	556	c.372C>T	c.(370-372)atC>atT	p.I124I	PSG3_ENST00000595140.1_Silent_p.I124I|PSG3_ENST00000490592.1_5'UTR	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	124	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CTCGCTTTACGATGTGTAAGG	0.517000													47	289					0	0	0.014410	0	0
MARCO	8685	broad.mit.edu	37	2	119739064	119739064	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:119739064C>T	ENST00000541757.1	+	10	992	c.612C>T	c.(610-612)ttC>ttT	p.F204F	MARCO_ENST00000327097.4_Silent_p.F282F			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	282	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AAGGTGACTTCGGGAGGCCAG	0.527000													8	12					0	0	0.003080	0	0
DEFB115	245929	broad.mit.edu	37	20	29845491	29845491	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:29845491C>T	ENST00000400552.1	+	1	25	c.25C>T	c.(25-27)Ctc>Ttc	p.L9F		NM_001037730.1	NP_001032819.1	Q30KQ5	DB115_HUMAN	defensin, beta 115	9					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			TTTCTCACCCCTCTCAGGAGA	0.502000													13	34					0	0	0.001855	0	0
CYP3A7	1551	broad.mit.edu	37	7	99308381	99308381	+	Missense_Mutation	SNP	C	C	T	rs147031398		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:99308381C>T	ENST00000336374.2	-	10	1002	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	334					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					GTATCAATTTCCTTCTGCACT	0.453000													17	32					0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179416365	179416365	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179416365G>A	ENST00000589042.1	-	335	91486	c.91262C>T	c.(91261-91263)tCt>tTt	p.S30421F	TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S21356F|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S21481F|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S27853F|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S21548F|TTN_ENST00000591111.1_Missense_Mutation_p.S28780F|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28780	Ig-like 137.						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)			ACCTACTGGAGAAACAGCTAA	0.368000													6	22					0	0	0.001168	0	0
FLNB	2317	broad.mit.edu	37	3	58112447	58112447	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:58112447G>A	ENST00000357272.4	+	24	4345	c.4180G>A	c.(4180-4182)Gat>Aat	p.D1394N	FLNB_ENST00000493452.1_Missense_Mutation_p.D1225N|FLNB_ENST00000490882.1_Missense_Mutation_p.D1394N|FLNB_ENST00000429972.2_Missense_Mutation_p.D1394N|FLNB_ENST00000419752.2_Missense_Mutation_p.D1225N|FLNB_ENST00000358537.3_Missense_Mutation_p.D1394N|FLNB_ENST00000348383.5_Missense_Mutation_p.D1394N|FLNB_ENST00000295956.4_Missense_Mutation_p.D1394N			O75369	FLNB_HUMAN	filamin B, beta	1394	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CGCACCGGGGGATTACGATGT	0.478000													24	37					0	0	0.004656	0	0
ASTN2	23245	broad.mit.edu	37	9	119903672	119903672	+	Silent	SNP	G	G	A	rs140458736	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:119903672G>A	ENST00000313400.4	-	4	1201	c.1101C>T	c.(1099-1101)atC>atT	p.I367I	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Silent_p.I367I|ASTN2_ENST00000361209.2_Intron			O75129	ASTN2_HUMAN	astrotactin 2	367						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCAGCTGACCGATCTCGATGG	0.587000													15	19					0	0	0.003163	0	0
LRP1	4035	broad.mit.edu	37	12	57600306	57600306	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:57600306C>T	ENST00000243077.3	+	76	12107	c.11641C>T	c.(11641-11643)Ctg>Ttg	p.L3881L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3881					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GATCCGCAGCCTGTTCCCCGG	0.597000													14	12					0	0	0.002450	0	0
SCN5A	6331	broad.mit.edu	37	3	38646304	38646304	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:38646304C>T	ENST00000413689.1	-	11	1627	c.1434G>A	c.(1432-1434)agG>agA	p.R478R	SCN5A_ENST00000449557.2_Silent_p.R478R|SCN5A_ENST00000451551.2_Silent_p.R478R|SCN5A_ENST00000425664.1_Silent_p.R478R|SCN5A_ENST00000423572.2_Silent_p.R478R|SCN5A_ENST00000450102.2_Silent_p.R478R|SCN5A_ENST00000455624.2_Silent_p.R478R|SCN5A_ENST00000414099.2_Silent_p.R478R|SCN5A_ENST00000333535.4_Silent_p.R478R|SCN5A_ENST00000443581.1_Silent_p.R478R	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	478					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCCGTTTTCTCCTCTTGCTTC	0.557000													6	18					0	0	0.001168	0	0
CHST4	10164	broad.mit.edu	37	16	71570729	71570729	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:71570729C>T	ENST00000338482.5	+	3	492	c.149C>T	c.(148-150)tCc>tTc	p.S50F	CHST4_ENST00000539698.3_Missense_Mutation_p.S50F|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Missense_Mutation_p.S50F|RP11-510M2.9_ENST00000572693.1_RNA			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	50					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						GTTCTGTCTTCCTGGCGCTCT	0.552000													27	38					0	0	0.005443	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221678	118221678	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:118221678G>A	ENST00000402510.2	-	11	3514	c.3515C>T	c.(3514-3516)tCa>tTa	p.S1172L		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1172										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CTCTAGTCGTGAGGTCATTTC	0.468000													15	11					0	0	0.003163	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153276396	153276396	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:153276396G>A	ENST00000290722.1	-	4	518	c.466C>T	c.(466-468)Cag>Tag	p.Q156*		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	156					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGAAGTGGCTGAATATACCTG	0.557000													23	71					0	0	0.002780	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113634601	113634601	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:113634601C>T	ENST00000358160.4	+	10	1498	c.1006C>T	c.(1006-1008)Cat>Tat	p.H336Y	GRAMD1C_ENST00000440446.2_Missense_Mutation_p.H131Y|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.H65Y|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.H169Y|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	336						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						CCGTATTTTTCATATCAGTGC	0.338000													10	39					0	0	0.008291	0	0
CLK2	1196	broad.mit.edu	37	1	155233748	155233748	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:155233748G>A	ENST00000368361.4	-	12	1625	c.1310C>T	c.(1309-1311)cCg>cTg	p.P437L	CLK2_ENST00000361168.5_Missense_Mutation_p.P436L|CLK2_ENST00000355560.4_Missense_Mutation_p.P435L|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Missense_Mutation_p.P437L			P49760	CLK2_HUMAN	CDC-like kinase 2	437	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CACCCGCAGCGGTTTGCAGTT	0.542000								Other conserved DNA damage response genes					46	67					0	0	0.014410	0	0
PAG1	55824	broad.mit.edu	37	8	81897132	81897132	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:81897132G>A	ENST00000220597.4	-	7	1465	c.755C>T	c.(754-756)cCa>cTa	p.P252L		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	252					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			CTCCTCTTCTGGATCACATGA	0.483000													39	77					0	0	0.008740	0	0
PREX1	57580	broad.mit.edu	37	20	47271867	47271867	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:47271867G>A	ENST00000396220.1	-	19	2192	c.2170C>T	c.(2170-2172)Cgt>Tgt	p.R724C	PREX1_ENST00000371941.3_Missense_Mutation_p.R724C			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	724					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	p.R724C(2)		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)			GCAGCTCCACGAATCTGGAAG	0.562000													4	16					0	0	0.001168	0	0
SESN1	27244	broad.mit.edu	37	6	109319812	109319812	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:109319812G>A	ENST00000436639.2	-	5	1621	c.876C>T	c.(874-876)ttC>ttT	p.F292F	RP11-787I22.3_ENST00000605885.1_RNA|SESN1_ENST00000302071.2_Silent_p.F167F|SESN1_ENST00000356644.7_Silent_p.F233F	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	233					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		AAGGAGGTCTGAATGTGTGGC	0.428000													35	78					0	0	0.004289	0	0
GPR15	2838	broad.mit.edu	37	3	98251319	98251319	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:98251319G>A	ENST00000284311.3	+	1	577	c.442G>A	c.(442-444)Gac>Aac	p.D148N		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	148						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CAGAAGGACAGACTGTGCATA	0.522000													13	28					0	0	0.013537	0	0
GRIN2A	2903	broad.mit.edu	37	16	9923464	9923464	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:9923464A>G	ENST00000396573.2	-	10	2132	c.1823T>C	c.(1822-1824)cTt>cCt	p.L608P	GRIN2A_ENST00000330684.3_Missense_Mutation_p.L608P|GRIN2A_ENST00000535259.1_Missense_Mutation_p.L451P|GRIN2A_ENST00000562109.1_Missense_Mutation_p.L608P|GRIN2A_ENST00000396575.2_Missense_Mutation_p.L608P|GRIN2A_ENST00000404927.2_Missense_Mutation_p.L608P	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	608					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CAGGCCCCAAAGAAGCCATAT	0.448000													24	44					0	0	0.005443	0	0
SOS1	6654	broad.mit.edu	37	2	39222341	39222341	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:39222341G>A	ENST00000426016.1	-	21	3355	c.3269C>T	c.(3268-3270)cCg>cTg	p.P1090L	SOS1_ENST00000402219.2_Missense_Mutation_p.P1090L|SOS1_ENST00000395038.2_Missense_Mutation_p.P1090L			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1090					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AGAAGCAGGCGGAGGTGTTAA	0.443000									Noonan syndrome				28	35					0	0	0.008361	0	0
ZNF536	9745	broad.mit.edu	37	19	31039066	31039066	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:31039066G>A	ENST00000355537.3	+	4	2687	c.2540G>A	c.(2539-2541)gGa>gAa	p.G847E		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	847					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGTCTCCCTGGAATCGACTTC	0.577000													23	56					0	0	0.004656	0	0
IGHV3-72	28410	broad.mit.edu	37	14	107199186	107199186	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:107199186C>T	ENST00000433072.2	-	0	182																											CTCAGGGACCCTCCAGGCTGG	0.597000													23	40					0	0	0.014323	0	0
NFATC4	4776	broad.mit.edu	37	14	24839278	24839278	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:24839278G>A	ENST00000413692.2	+	3	1007	c.863G>A	c.(862-864)tGg>tAg	p.W288*	NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000424781.2_Nonsense_Mutation_p.W238*|NFATC4_ENST00000557451.1_Nonsense_Mutation_p.W155*|NFATC4_ENST00000555590.1_Nonsense_Mutation_p.W238*|NFATC4_ENST00000422617.3_Nonsense_Mutation_p.W213*|NFATC4_ENST00000554661.1_Nonsense_Mutation_p.W155*|NFATC4_ENST00000553879.1_Nonsense_Mutation_p.W155*|NFATC4_ENST00000554966.1_Nonsense_Mutation_p.W238*|NFATC4_ENST00000554591.1_Nonsense_Mutation_p.W288*|NFATC4_ENST00000556279.1_Nonsense_Mutation_p.W257*|NFATC4_ENST00000556169.1_Nonsense_Mutation_p.W213*|NFATC4_ENST00000554050.1_Nonsense_Mutation_p.W225*|NFATC4_ENST00000554344.1_Nonsense_Mutation_p.W155*|NFATC4_ENST00000553469.1_Nonsense_Mutation_p.W257*|NFATC4_ENST00000555453.1_Nonsense_Mutation_p.W213*|NFATC4_ENST00000250373.4_Nonsense_Mutation_p.W225*|NFATC4_ENST00000553708.1_Nonsense_Mutation_p.W225*|NFATC4_ENST00000539237.2_Nonsense_Mutation_p.W257*	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	225	2 approximate SP repeats.|Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCTCGGCCATGGACCCCCGAA	0.692000													4	20					0	0	0.009096	0	0
RNF133	168433	broad.mit.edu	37	7	122338482	122338482	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:122338482A>G	ENST00000340112.2	-	1	728	c.491T>C	c.(490-492)tTc>tCc	p.F164S	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	164	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						AATTAAATGGAAAATTTCCGT	0.423000													15	39					0	0	0.004007	0	0
OR56A3	390083	broad.mit.edu	37	11	5969065	5969065	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5969065C>T	ENST00000329564.6	+	1	496	c.489C>T	c.(487-489)atC>atT	p.I163I		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTGCCCATCCCCATCCTTT	0.443000													20	41					0	0	0.007413	0	0
MUC16	94025	broad.mit.edu	37	19	9063573	9063573	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9063573G>A	ENST00000397910.4	-	3	24076	c.23873C>T	c.(23872-23874)tCa>tTa	p.S7958L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7960	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						GCTCATCCATGATACATCCTC	0.453000													5	41					0	0	0.000602	0	0
LRP4	4038	broad.mit.edu	37	11	46921504	46921504	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:46921504C>T	ENST00000378623.1	-	4	582	c.340G>A	c.(340-342)Gag>Aag	p.E114K		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	114	LDL-receptor class A 3.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAGGGAAACTCGTCCTCCTCA	0.617000													10	41					0	0	0.008291	0	0
IFNA21	3452	broad.mit.edu	37	9	21166283	21166283	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:21166283G>A	ENST00000380225.1	-	1	376	c.329C>T	c.(328-330)aCt>aTt	p.T110I		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	110					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GTTAAGTTCAGTGGAAAATTT	0.498000													15	94					0	0	0.002450	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22864607	22864607	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:22864607C>T	ENST00000251822.6	+	5	1386	c.849C>T	c.(847-849)atC>atT	p.I283I	RHOBTB2_ENST00000519685.1_Silent_p.I305I|RHOBTB2_ENST00000522948.1_Silent_p.I290I|RP11-875O11.1_ENST00000502083.2_RNA|RP11-875O11.1_ENST00000523884.1_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	283	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CCCACAAGATCTACCTCTCCA	0.662000													30	72					0	0	0.008361	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995039	140995039	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:140995039C>T	ENST00000285879.4	+	4	2135	c.1849C>T	c.(1849-1851)Cag>Tag	p.Q617*	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	617							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTCCTCTTCAGGGGGAGGA	0.572000										HNSCC(15;0.026)			42	116					0	0	0.007835	0	0
C7orf65	401335	broad.mit.edu	37	7	47694908	47694908	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:47694908G>A	ENST00000408988.2	+	1	67	c.32G>A	c.(31-33)gGa>gAa	p.G11E		NM_001123065.1	NP_001116537.1	Q6ZTY9	CG065_HUMAN	chromosome 7 open reading frame 65	11										endometrium(1)|lung(2)	3						TCAACAGAAGGAAGACGGCTC	0.627000													11	25					0	0	0.013537	0	0
CLCN6	1185	broad.mit.edu	37	1	11894319	11894319	+	Missense_Mutation	SNP	C	C	T	rs149710478		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:11894319C>T	ENST00000346436.6	+	16	1605	c.1553C>T	c.(1552-1554)tCg>tTg	p.S518L	CLCN6_ENST00000376487.3_Missense_Mutation_p.S496L|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.S518L	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	518					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CACATCTATTCGGGGACCTTT	0.542000													14	31					0	0	0.003163	0	0
GADL1	339896	broad.mit.edu	37	3	30842408	30842408	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:30842408C>T	ENST00000454381.3	-	12	1269	c.1223G>A	c.(1222-1224)aGa>aAa	p.R408K	GADL1_ENST00000282538.5_Missense_Mutation_p.R408K			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	408					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	ACGATTAACTCTTTCTTCAAG	0.468000													17	52					0	0	0.010504	0	0
SDR42E1	93517	broad.mit.edu	37	16	82032727	82032727	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:82032727G>A	ENST00000328945.5	-	3	1298	c.1171C>T	c.(1171-1173)Ctg>Ttg	p.L391L		NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	391					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						CACAGTGACAGAATCACAGAA	0.453000													8	25					0	0	0.008291	0	0
CCDC88C	440193	broad.mit.edu	37	14	91760555	91760555	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:91760555C>T	ENST00000389857.6	-	23	4160	c.4074G>A	c.(4072-4074)gaG>gaA	p.E1358E		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1358					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCTCCTTGTTCTCCATGTTCT	0.547000													56	86					0	0	0.014410	0	0
HSD17B7	51478	broad.mit.edu	37	1	162767625	162767625	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:162767625C>T	ENST00000367917.3	+	4	434	c.366C>T	c.(364-366)ggC>ggT	p.G122G	HSD17B7_ENST00000254521.3_Silent_p.G122G|HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367913.1_3'UTR			P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	122					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)				NADH(DB00157)	CAGCTGAAGGCCTGCTGACCC	0.413000													7	23					0	0	0.010729	0	0
OC90	729330	broad.mit.edu	37	8	133048626	133048626	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:133048626G>A	ENST00000262283.5	-	13	1406	c.1307C>T	c.(1306-1308)tCc>tTc	p.S436F	OC90_ENST00000603859.1_Intron|OC90_ENST00000443356.2_Missense_Mutation_p.S240F|OC90_ENST00000254627.3_Intron			Q02509	OC90_HUMAN	otoconin 90	240	Phospholipase A2-like 3.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			ACTTTTCTTGGAGAGAGTGAT	0.448000													19	45					0	0	0.012319	0	0
CD2	914	broad.mit.edu	37	1	117311293	117311293	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:117311293C>T	ENST00000369478.3	+	5	1052	c.944C>T	c.(943-945)cCg>cTg	p.P315L		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	315	Pro-rich.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CCTCCTGCTCCGTCGGGCACA	0.622000													25	70					0	0	0.002780	0	0
NCAM2	4685	broad.mit.edu	37	21	22841002	22841002	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:22841002C>T	ENST00000400546.1	+	14	2043	c.1794C>T	c.(1792-1794)tcC>tcT	p.S598S	NCAM2_ENST00000284894.7_Silent_p.S456S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	598	Fibronectin type-III 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GTCCTCCATCCATACATGGAC	0.368000													15	11					0	0	0.008871	0	0
ZNF99	7652	broad.mit.edu	37	19	22940013	22940013	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:22940013G>A	ENST00000397104.3	-	6	2317	c.2318C>T	c.(2317-2319)cCa>cTa	p.P773L						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACATTTGTATGGTTTCTTCCC	0.383000													9	18					0	0	0.004482	0	0
SLC17A3	10786	broad.mit.edu	37	6	25851002	25851002	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:25851002G>A	ENST00000397060.4	-	7	925	c.816C>T	c.(814-816)tcC>tcT	p.S272S	SLC17A3_ENST00000361703.6_Silent_p.S194S|SLC17A3_ENST00000360657.3_Silent_p.S194S	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	194					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						GTTTCAAGGAGGATATGATGT	0.403000													13	33					0	0	0.002450	0	0
MGAM	8972	broad.mit.edu	37	7	141755472	141755472	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:141755472G>A	ENST00000475668.2	+	28	3483	c.3429G>A	c.(3427-3429)agG>agA	p.R1143R	MGAM_ENST00000549489.2_Silent_p.R1143R			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1143	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGTCCTATAGGAGAGACTTGG	0.547000													15	62					0	0	0.002450	0	0
TUB	7275	broad.mit.edu	37	11	8060477	8060477	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:8060477G>A	ENST00000305253.4	+	1	298	c.57G>A	c.(55-57)ggG>ggA	p.G19G	TUB_ENST00000534099.1_Intron|RP11-236J17.6_ENST00000526646.1_RNA|RP11-236J17.6_ENST00000528151.1_RNA	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	0					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CCGAGACAGGGATTTTGTTCC	0.567000													37	67					0	0	0.006230	0	0
PEX5	5830	broad.mit.edu	37	12	7354848	7354848	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:7354848C>T	ENST00000266564.3	+	7	671	c.654C>T	c.(652-654)ttC>ttT	p.F218F	PEX5_ENST00000434354.2_Silent_p.F233F|PEX5_ENST00000420616.2_Silent_p.F218F|PEX5_ENST00000412720.2_Silent_p.F239F|PEX5_ENST00000545220.1_3'UTR|PEX5_ENST00000266563.5_Intron|PEX5_ENST00000455147.2_Silent_p.F218F	NM_000319.4	NP_000310.2	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	218					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						TCCTGAAATTCGTGCGGCAGA	0.597000													36	20					0	0	0.004289	0	0
MTMR11	10903	broad.mit.edu	37	1	149901598	149901598	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:149901598G>A	ENST00000439741.2	-	16	2108	c.1858C>T	c.(1858-1860)Cca>Tca	p.P620S	MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.P548S|MTMR11_ENST00000406732.3_3'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	620	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AGCAGCCCTGGAGGTAAAGGG	0.587000													27	75					0	0	0.004656	0	0
MYO5B	4645	broad.mit.edu	37	18	47421509	47421509	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:47421509G>A	ENST00000285039.7	-	22	3146	c.2847C>T	c.(2845-2847)tcC>tcT	p.S949S	MYO5B_ENST00000324581.6_Silent_p.S90S	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	949					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGGTGGTCACGGACAACTGCT	0.517000													16	42					0	0	0.004990	0	0
PCLO	27445	broad.mit.edu	37	7	82763974	82763974	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82763974C>T	ENST00000423517.2	-	3	3229	c.2892G>A	c.(2890-2892)atG>atA	p.M964I	PCLO_ENST00000333891.8_Missense_Mutation_p.M964I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	910	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGCTTGTTTCATTGGGGCCC	0.507000													12	20					0	0	0.006122	0	0
PAWR	5074	broad.mit.edu	37	12	80014943	80014943	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:80014943C>T	ENST00000328827.4	-	3	933	c.561G>A	c.(559-561)cgG>cgA	p.R187R		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	187	Selective for apoptosis induction in cancer cells (SAC).				actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CTTCTCGTTTCCGCTCTTTCT	0.363000													19	94					0	0	0.008871	0	0
CDC25A	993	broad.mit.edu	37	3	48207191	48207191	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:48207191G>A	ENST00000302506.3	-	12	1534	c.1126C>T	c.(1126-1128)Ctc>Ttc	p.L376F	CDC25A_ENST00000351231.3_Missense_Mutation_p.L336F|CDC25A_ENST00000459900.1_5'UTR	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	376	Rhodanese.				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TCTTTAATGAGGTTGGCAAAC	0.438000													27	57					0	0	0.005443	0	0
TTC39C	125488	broad.mit.edu	37	18	21698134	21698134	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:21698134C>T	ENST00000540918.2	+	3	453	c.203C>T	c.(202-204)tCc>tTc	p.S68F	RP11-799B12.2_ENST00000583782.1_RNA|TTC39C_ENST00000317571.3_Missense_Mutation_p.S375F|TTC39C_ENST00000304621.6_Missense_Mutation_p.S314F			Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	375							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						GCATTTGATTCCTTTGAGAGG	0.453000													7	54					0	0	0.001984	0	0
SORL1	6653	broad.mit.edu	37	11	121414293	121414293	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:121414293C>T	ENST00000260197.7	+	13	1851	c.1722C>T	c.(1720-1722)ttC>ttT	p.F574F	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	574					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGAAAACATTCATCTTCTCTG	0.468000													8	60					0	0	0.004482	0	0
DMXL1	1657	broad.mit.edu	37	5	118485031	118485031	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:118485031G>A	ENST00000311085.8	+	18	3589	c.3509G>A	c.(3508-3510)gGc>gAc	p.G1170D	DMXL1_ENST00000539542.1_Missense_Mutation_p.G1170D	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1170										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CCCCTGGCTGGCAAGGTACAA	0.423000													20	45					0	0	0.008871	0	0
UCHL3	7347	broad.mit.edu	37	13	76169099	76169099	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:76169099C>T	ENST00000377595.3	+	7	553	c.523C>T	c.(523-525)Cat>Tat	p.H175Y	RP11-29G8.3_ENST00000563635.1_RNA|UCHL3_ENST00000606347.1_3'UTR	NM_001270952.1|NM_006002.3	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)	175					ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		TGCATTAGTTCATGTAGATGG	0.338000													81	131					0	0	0.014410	0	0
CTSV	1515	broad.mit.edu	37	9	99799623	99799623	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:99799623C>T	ENST00000259470.5	-	4	556	c.307G>A	c.(307-309)Ggg>Agg	p.G103R	CTSV_ENST00000538255.1_Missense_Mutation_p.G103R|CTSV_ENST00000479932.1_5'UTR	NM_001333.3	NP_001324.2			cathepsin V																		AACACTTTCCCCTTCCTGAAT	0.423000													15	26					0	0	0.004007	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515473	140515473	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140515473C>T	ENST00000231134.5	+	1	674	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		153	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACTGTGTTTCCCTTAAAAAT	0.463000													11	40					0	0	0.008291	0	0
TRBC2	28638	broad.mit.edu	37	7	142499057	142499057	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142499057G>A	ENST00000466254.1	+	0	333																											GTGGACCCAGGATAGGGCCAA	0.627000													15	102					0	0	0.004990	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502130	140502130	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140502130C>T	ENST00000194152.1	+	1	550	c.550C>T	c.(550-552)Cat>Tat	p.H184Y		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		184	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACTCGAAATCATAGTGAGGG	0.473000													10	15					0	0	0.008291	0	0
ZNF528	84436	broad.mit.edu	37	19	52919319	52919319	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:52919319G>A	ENST00000360465.3	+	7	1640	c.1214G>A	c.(1213-1215)aGa>aAa	p.R405K	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ATTCATACTAGAGAGAGACCT	0.403000													19	34					0	0	0.010504	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713754	70713754	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:70713754C>T	ENST00000530196.1	-	0	764					NR_003951.1																						GCTCCAGAAACCATGCATGAG	0.433000													16	52					0	0	0.007413	0	0
SPINK5	11005	broad.mit.edu	37	5	147480076	147480076	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:147480076G>A	ENST00000359874.3	+	13	1225	c.1152G>A	c.(1150-1152)gaG>gaA	p.E384E	SPINK5_ENST00000476608.1_3'UTR|SPINK5_ENST00000398454.1_Silent_p.E384E|SPINK5_ENST00000256084.7_Silent_p.E384E	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	384	Kazal-like 6.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCAGAGAGAACGATCCTA	0.488000													15	25					0	0	0.003163	0	0
LGI1	9211	broad.mit.edu	37	10	95556849	95556849	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:95556849C>T	ENST00000371418.4	+	8	1223	c.963C>T	c.(961-963)atC>atT	p.I321I	LGI1_ENST00000542308.1_Silent_p.I273I|LGI1_ENST00000371413.3_Intron	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	321					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TCATAAAAATCCAGGATATTG	0.363000													5	32					0	0	0.000602	0	0
SYNE2	23224	broad.mit.edu	37	14	64473769	64473769	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:64473769C>T	ENST00000358025.3	+	31	4636	c.4406C>T	c.(4405-4407)tCa>tTa	p.S1469L	SYNE2_ENST00000344113.4_Missense_Mutation_p.S1469L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.S1469L	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1469					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGGAAAAAATCATTAATCAGA	0.343000													13	91					0	0	0.003163	0	0
COL5A1	1289	broad.mit.edu	37	9	137702112	137702112	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:137702112G>A	ENST00000371817.3	+	44	3900	c.3486G>A	c.(3484-3486)ggG>ggA	p.G1162G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1162	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAGAGATCGGGGAGCCGGGGC	0.582000													19	49					0	0	0.002780	0	0
SLC22A7	10864	broad.mit.edu	37	6	43271893	43271893	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:43271893C>T	ENST00000372585.5	+	10	1598	c.1503C>T	c.(1501-1503)atC>atT	p.I501I	SLC22A7_ENST00000372589.3_Silent_p.I499I|SLC22A7_ENST00000372574.3_Silent_p.I499I	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	501						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	p.I501I(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			ATGGGGGGATCGCCCTGCTGG	0.652000													33	78					0	0	0.003755	0	0
MUC6	4588	broad.mit.edu	37	11	1016872	1016872	+	Missense_Mutation	SNP	G	G	A	rs71472140		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:1016872G>A	ENST00000421673.2	-	31	5979	c.5929C>T	c.(5929-5931)Ccc>Tcc	p.P1977S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1977	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAAGAGAAGGGACTGCTCCCT	0.592000													65	1315					0	0	0.008740	0	0
SLC25A21	89874	broad.mit.edu	37	14	37153959	37153959	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:37153959G>A	ENST00000331299.5	-	8	1290	c.775C>T	c.(775-777)Cag>Tag	p.Q259*	SLC25A21_ENST00000555449.1_Nonsense_Mutation_p.Q259*	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	259					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		CCTTCTTCCTGATAGACTGTT	0.383000													19	82					0	0	0.007413	0	0
ZNF181	339318	broad.mit.edu	37	19	35231794	35231794	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:35231794C>T	ENST00000392232.3	+	6	808	c.640C>T	c.(640-642)Ctt>Ttt	p.L214F	ZNF181_ENST00000492450.1_Missense_Mutation_p.L170F|ZNF181_ENST00000459757.1_Missense_Mutation_p.L169F			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AAAGTCTACTCTTTCTGAACC	0.333000													10	32					0	0	0.006214	0	0
PDGFRB	5159	broad.mit.edu	37	5	149499604	149499604	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:149499604C>T	ENST00000261799.4	-	19	3138	c.2669G>A	c.(2668-2670)gGg>gAg	p.G890E		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	890	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAGCAGGATCCCGAAGGACCA	0.572000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								5	24					0	0	0.000602	0	0
MAATS1	89876	broad.mit.edu	37	3	119427482	119427482	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:119427482C>T	ENST00000273390.5	+	4	481	c.404C>T	c.(403-405)cCt>cTt	p.P135L	MAATS1_ENST00000463700.1_Missense_Mutation_p.P135L	NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		TATGAAGATCCTGAAGTTACT	0.289000													11	31					0	0	0.002450	0	0
OR10V1	390201	broad.mit.edu	37	11	59481007	59481007	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:59481007G>A	ENST00000307552.2	-	1	330	c.312C>T	c.(310-312)ttC>ttT	p.F104F	STX3_ENST00000300150.7_5'UTR	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						AGAAGACAAAGAAAAACATCT	0.483000													12	25					0	0	0.013537	0	0
RIPK4	54101	broad.mit.edu	37	21	43176852	43176852	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:43176852A>T	ENST00000352483.2	-	2	371	c.307T>A	c.(307-309)Tcc>Acc	p.S103T	RIPK4_ENST00000332512.3_Missense_Mutation_p.S103T|RIPK4_ENST00000542057.1_Missense_Mutation_p.S40T|RIPK4_ENST00000544709.1_Missense_Mutation_p.S40T			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	103						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTTTCCAGGGAGCCCGTCTCC	0.582000													8	18					0	0	0.006214	0	0
ENAH	55740	broad.mit.edu	37	1	225700644	225700644	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:225700644G>A	ENST00000366844.2	-	8	1744	c.1293C>T	c.(1291-1293)ggC>ggT	p.G431G	ENAH_ENST00000284563.6_Silent_p.G678G|ENAH_ENST00000366843.2_Silent_p.G431G	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	431	EVH2.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		CATTTCCACGGCCTGTATCTG	0.453000													33	77					0	0	0.003271	0	0
CCDC105	126402	broad.mit.edu	37	19	15132205	15132205	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15132205C>T	ENST00000292574.3	+	4	997	c.915C>T	c.(913-915)gtC>gtT	p.V305V		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	305					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GGTTGTTGGTCGAGTCCAAGG	0.612000													8	21					0	0	0.003080	0	0
OR51B6	390058	broad.mit.edu	37	11	5372791	5372791	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5372791G>A	ENST00000380219.1	+	1	54	c.54G>A	c.(52-54)atG>atA	p.M18I	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCCAGGCATGGAGAAGGCAC	0.453000													11	25					0	0	0.001855	0	0
NPHP3	27031	broad.mit.edu	37	3	132409388	132409388	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:132409388G>A	ENST00000337331.5	-	19	2763	c.2677C>T	c.(2677-2679)Caa>Taa	p.Q893*	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	893					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TAAAGGTTTTGAGACACAAAG	0.358000													13	27					0	0	0.003163	0	0
TTN	7273	broad.mit.edu	37	2	179477893	179477893	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179477893G>A	ENST00000589042.1	-	264	49867	c.49643C>T	c.(49642-49644)cCc>cTc	p.P16548L	TTN_ENST00000460472.2_Missense_Mutation_p.P7483L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P7608L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P13980L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P7675L|TTN_ENST00000591111.1_Missense_Mutation_p.P14907L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14907	Fibronectin type-III 20.						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)			AATACCTATGGGATCCTTTAT	0.343000													5	21					0	0	0.000602	0	0
TTC40	54777	broad.mit.edu	37	10	134647602	134647602	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:134647602C>T	ENST00000368586.5	-	49	6992	c.6892G>A	c.(6892-6894)Gat>Aat	p.D2298N	TTC40_ENST00000263170.5_Missense_Mutation_p.D459N	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	459										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TTCCCTGAATCGGCAACAACC	0.522000													16	58					0	0	0.004990	0	0
THBS1	7057	broad.mit.edu	37	15	39885651	39885651	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:39885651G>A	ENST00000260356.5	+	19	3214	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1017	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CATCAACACCGAAAGGGACGA	0.493000													57	125					0	0	0.014410	0	0
GGT1	2678	broad.mit.edu	37	22	25010854	25010854	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:25010854C>T	ENST00000400382.1	+	6	1031	c.276C>T	c.(274-276)acC>acT	p.T92T	GGT1_ENST00000248923.4_Silent_p.T92T|GGT1_ENST00000406383.2_Silent_p.T92T|GGT1_ENST00000400380.1_Silent_p.T92T|GGT1_ENST00000400383.1_Silent_p.T92T			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	92					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TCTTCCTCACCATCTACAACA	0.657000													12	43					0	0	0.002450	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879862	3879862	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:3879862G>A	ENST00000315677.3	-	4	802	c.207C>T	c.(205-207)acC>acT	p.T69T	DLGAP1_ENST00000584874.1_Silent_p.T69T|DLGAP1_ENST00000581527.1_Silent_p.T69T|DLGAP1_ENST00000515196.2_Silent_p.T69T|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	69					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TGCGGGGGAAGGTGCTGCTGG	0.677000													11	53					0	0	0.008291	0	0
CASC4	113201	broad.mit.edu	37	15	44705554	44705554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:44705554C>T	ENST00000299957.6	+	10	1560	c.1261C>T	c.(1261-1263)Caa>Taa	p.Q421*	RP11-516C1.1_ENST00000558047.1_RNA|CASC4_ENST00000360824.3_3'UTR|CASC4_ENST00000345795.2_Nonsense_Mutation_p.Q365*	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	196						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		ACGAGAGCTTCAAATGGATCC	0.308000													5	12					0	0	0.001168	0	0
CECR2	27443	broad.mit.edu	37	22	18020357	18020357	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:18020357C>T	ENST00000262608.8	+	13	1689	c.1689C>T	c.(1687-1689)ccC>ccT	p.P563P	CECR2_ENST00000400585.2_Silent_p.P421P|CECR2_ENST00000400573.4_Silent_p.P562P	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	604					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)		GCCGAGCGCCCTCTTCTGGGG	0.627000													16	38					0	0	0.008871	0	0
DNAH8	1769	broad.mit.edu	37	6	38690664	38690664	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:38690664C>T	ENST00000449981.2	+	2	188	c.79C>T	c.(79-81)Cgt>Tgt	p.R27C						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						TGCCCCTCCCCGTTCAGAAGA	0.612000													7	13					0	0	0.001984	0	0
DNAH1	25981	broad.mit.edu	37	3	52398945	52398945	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:52398945C>T	ENST00000420323.2	+	34	5689	c.5428C>T	c.(5428-5430)Ccc>Tcc	p.P1810S		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1810					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGACCTGTTTCCCACCATCAA	0.607000													29	34					0	0	0.007291	0	0
EYA4	2070	broad.mit.edu	37	6	133802624	133802624	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:133802624C>T	ENST00000367895.5	+	12	1458	c.994C>T	c.(994-996)Ccc>Tcc	p.P332S	EYA4_ENST00000355286.6_Missense_Mutation_p.P309S|EYA4_ENST00000531901.1_Missense_Mutation_p.P338S|EYA4_ENST00000430974.2_Missense_Mutation_p.P284S|EYA4_ENST00000431403.2_Missense_Mutation_p.P332S|EYA4_ENST00000452339.2_Missense_Mutation_p.P278S|EYA4_ENST00000355167.3_Missense_Mutation_p.P332S|EYA4_ENST00000525849.1_Missense_Mutation_p.P309S	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	332					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CATGCAGAGTCCCTCCACACC	0.423000													43	74					0	0	0.014410	0	0
ENTPD2	954	broad.mit.edu	37	9	139945719	139945719	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:139945719C>T	ENST00000355097.2	-	4	537	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	ENTPD2_ENST00000312665.5_Missense_Mutation_p.E164K	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	164						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACCCCCTCTTCCTGGCCCGAG	0.627000													18	64					0	0	0.014323	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39421083	39421083	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:39421083C>T	ENST00000216099.7	+	3	626	c.219C>T	c.(217-219)ttC>ttT	p.F73F	APOBEC3D_ENST00000381568.4_Silent_p.F73F|APOBEC3D_ENST00000427494.2_Intron	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	73					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					AGGTGTATTTCCGGTTTGAGA	0.602000													6	15					0	0	0.001168	0	0
GRIA3	2892	broad.mit.edu	37	X	122561843	122561843	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:122561843C>T	ENST00000264357.5	+	12	2221	c.1929C>T	c.(1927-1929)atC>atT	p.I643I	GRIA3_ENST00000371251.1_Silent_p.I643I|GRIA3_ENST00000542149.1_Silent_p.I643I|GRIA3_ENST00000371256.5_Silent_p.I643I	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	643					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TCACCCTGATCATAATTTCTT	0.453000													49	27					0	0	0.014410	0	0
ANK1	286	broad.mit.edu	37	8	41552776	41552776	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:41552776C>T	ENST00000396942.1	-	27	3117	c.3034G>A	c.(3034-3036)Gaa>Aaa	p.E1012K	ANK1_ENST00000352337.4_Missense_Mutation_p.E1012K|ANK1_ENST00000379758.2_Missense_Mutation_p.E1012K|ANK1_ENST00000347528.4_Missense_Mutation_p.E1012K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1012K|ANK1_ENST00000265709.8_Missense_Mutation_p.E1053K|ANK1_ENST00000396945.1_Missense_Mutation_p.E1012K			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1012	ZU5.				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)			GAGCCGTTTTCGCTCCTCAGA	0.617000													41	71					0	0	0.009718	0	0
LVRN	206338	broad.mit.edu	37	5	115346571	115346571	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:115346571G>A	ENST00000357872.4	+	14	2351	c.2227G>A	c.(2227-2229)Gat>Aat	p.D743N		NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		743					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										GAACATCTATGATATATACTC	0.323000													4	30					0	0	0.009096	0	0
KIAA1244	57221	broad.mit.edu	37	6	138584494	138584494	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:138584494C>T	ENST00000251691.4	+	12	2040	c.1874C>T	c.(1873-1875)tCc>tTc	p.S625F		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	625	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCGGGCAGGTCCGACGTGTCA	0.547000													49	104					0	0	0.014410	0	0
CROCC	9696	broad.mit.edu	37	1	17277559	17277559	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:17277559C>T	ENST00000375541.5	+	20	3017	c.2948C>T	c.(2947-2949)tCt>tTt	p.S983F	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	983					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCCCAGGCCTCTCTGCGGGAG	0.622000													10	16					0	0	0.008291	0	0
ATRN	8455	broad.mit.edu	37	20	3577041	3577041	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:3577041G>A	ENST00000262919.5	+	21	3502	c.3434G>A	c.(3433-3435)cGa>cAa	p.R1145Q	ATRN_ENST00000446916.2_Missense_Mutation_p.R1145Q	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1145	Laminin EGF-like 2.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GTAGAAAATCGATACCAAGGA	0.318000													21	38					0	0	0.003330	0	0
MYO18B	84700	broad.mit.edu	37	22	26423569	26423569	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:26423569C>T	ENST00000335473.7	+	43	7879	c.7629C>T	c.(7627-7629)ccC>ccT	p.P2543P	MYO18B_ENST00000536101.1_Silent_p.P2543P|MYO18B_ENST00000407587.2_Silent_p.P2544P	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2543						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAACGTCCCCCGAGCGGAGAG	0.552000													11	18					0	0	0.013537	0	0
MB21D2	151963	broad.mit.edu	37	3	192517368	192517368	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:192517368C>T	ENST00000392452.2	-	2	603	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	95										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						ACCACGCCTTCCCGGACACCT	0.483000													15	19					0	0	0.004990	0	0
TCL1B	9623	broad.mit.edu	37	14	96152912	96152912	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:96152912C>T	ENST00000340722.7	+	1	159	c.108C>T	c.(106-108)gtC>gtT	p.V36V	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	36										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TGACTGTGGTCGTGCGGTTCA	0.657000													18	26					0	0	0.006122	0	0
COG2	22796	broad.mit.edu	37	1	230807342	230807342	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:230807342C>T	ENST00000534989.1	+	8	1013	c.678C>T	c.(676-678)caC>caT	p.H226H	COG2_ENST00000535166.1_Silent_p.H169H|COG2_ENST00000494371.1_3'UTR|COG2_ENST00000366669.4_Silent_p.H285H|COG2_ENST00000366668.3_Silent_p.H285H			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	285					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TTGTTCCTCACCATTGCCGCC	0.453000													34	65					0	0	0.003271	0	0
CLDN14	23562	broad.mit.edu	37	21	37833570	37833570	+	Missense_Mutation	SNP	C	C	T	rs146755542	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:37833570C>T	ENST00000399137.1	-	3	1290	c.424G>A	c.(424-426)Gac>Aac	p.D142N	CLDN14_ENST00000342108.2_Missense_Mutation_p.D142N|CLDN14_ENST00000399135.1_Missense_Mutation_p.D142N|AP000695.6_ENST00000429588.1_RNA|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399139.1_Missense_Mutation_p.D142N|CLDN14_ENST00000399136.1_Missense_Mutation_p.D142N	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	142					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						TGCACCACGTCGTTGGTGGTC	0.627000													11	52					0	0	0.008291	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33616128	33616128	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:33616128C>T	ENST00000504830.1	-	15	2528	c.2193G>A	c.(2191-2193)gtG>gtA	p.V731V	ADAMTS12_ENST00000352040.3_Silent_p.V646V|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	731	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CAATTTCCATCACTCTTATGT	0.448000										HNSCC(64;0.19)			9	32					0	0	0.006214	0	0
MNDA	4332	broad.mit.edu	37	1	158815497	158815497	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158815497G>A	ENST00000368141.4	+	5	952	c.691G>A	c.(691-693)Ggg>Agg	p.G231R		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	231	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CCCAGAAAATGGGAAAAGCAC	0.428000													19	25					0	0	0.007413	0	0
SEC16B	89866	broad.mit.edu	37	1	177930758	177930758	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:177930758G>A	ENST00000308284.6	-	6	843	c.754C>T	c.(754-756)Cca>Tca	p.P252S	RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.P252S|RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.P252S	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	252					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GCTGAAGCTGGGGGATCATCC	0.537000													10	33					0	0	0.008291	0	0
MYH2	4620	broad.mit.edu	37	17	10432014	10432014	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:10432014T>C	ENST00000245503.5	-	27	4121	c.3737A>G	c.(3736-3738)aAa>aGa	p.K1246R	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.K1246R|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1246					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TACCTTGGCTTTGGAGACCGT	0.398000													13	59					0	0	0.004007	0	0
FLNA	2316	broad.mit.edu	37	X	153581488	153581488	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:153581488G>A	ENST00000422373.1	-	37	6331	c.6083C>T	c.(6082-6084)cCg>cTg	p.P2028L	FLNA_ENST00000344736.4_Missense_Mutation_p.P1996L|FLNA_ENST00000369856.3_Missense_Mutation_p.P169L|FLNA_ENST00000369850.3_Missense_Mutation_p.P2036L|FLNA_ENST00000360319.4_Missense_Mutation_p.P2028L	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2036					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GATCACCACCGGGATGGGGCT	0.587000													24	8					0	0	0.003330	0	0
CABYR	26256	broad.mit.edu	37	18	21736228	21736228	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:21736228G>A	ENST00000399481.2	+	2	621	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	CABYR_ENST00000327201.6_Intron|CABYR_ENST00000399499.1_Intron|CABYR_ENST00000415309.2_Intron|CABYR_ENST00000399496.3_Intron|CABYR_ENST00000581397.1_Intron			O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	255					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					AAATGAGGCTGAACCATCAAC	0.463000													8	16					0	0	0.003080	0	0
NOMO1	23420	broad.mit.edu	37	16	14968912	14968912	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:14968912C>T	ENST00000287667.7	+	19	2245	c.2074C>T	c.(2074-2076)Ccc>Tcc	p.P692S		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	692						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						CGACAGTGAACCCGCCTTGGT	0.557000													27	49					0	0	0.008361	0	0
ALPPL2	251	broad.mit.edu	37	2	233272049	233272049	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:233272049G>A	ENST00000295453.3	+	3	290	c.238G>A	c.(238-240)Gac>Aac	p.D80N		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	80					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GCAGAAGAAGGACAAACTGGG	0.587000													4	43					0	0	0.000602	0	0
FAM83B	222584	broad.mit.edu	37	6	54805315	54805315	+	Silent	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:54805315T>C	ENST00000306858.7	+	5	1662	c.1546T>C	c.(1546-1548)Tta>Cta	p.L516L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	516										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGGATCAGCTTTAGGTGACCG	0.408000													8	43					0	0	0.003080	0	0
NPAP1	23742	broad.mit.edu	37	15	24924049	24924049	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:24924049G>A	ENST00000329468.2	+	1	3509	c.3035G>A	c.(3034-3036)gGa>gAa	p.G1012E		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		ATGGGACCTGGAACCCCTATG	0.517000													11	26					0	0	0.010729	0	0
COL21A1	81578	broad.mit.edu	37	6	55929417	55929417	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:55929417G>A	ENST00000244728.5	-	24	2528	c.2131C>T	c.(2131-2133)Caa>Taa	p.Q711*	COL21A1_ENST00000370819.1_Nonsense_Mutation_p.Q708*|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Nonsense_Mutation_p.Q111*|COL21A1_ENST00000535941.1_Nonsense_Mutation_p.Q711*	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	711	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCTCCCTTTTGACCCTTTAAA	0.323000													4	8					0	0	0.000602	0	0
LPAR4	2846	broad.mit.edu	37	X	78011171	78011171	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:78011171C>T	ENST00000435339.2	+	2	1210	c.805C>T	c.(805-807)Ctc>Ttc	p.L269F	LPAR4_ENST00000373301.2_Missense_Mutation_p.L269F	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	269						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CAACTCTGTCCTCTTCTTGTA	0.408000													13	10					0	0	0.013537	0	0
ABCB5	340273	broad.mit.edu	37	7	20721209	20721209	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:20721209G>A	ENST00000404938.2	+	15	2441	c.1789G>A	c.(1789-1791)Gat>Aat	p.D597N	ABCB5_ENST00000258738.6_Missense_Mutation_p.D152N	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	152	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GACCCTAAAGGATGGAATGCT	0.423000													8	40					0	0	0.004482	0	0
ACOXL	55289	broad.mit.edu	37	2	111551742	111551742	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:111551742C>T	ENST00000389811.4	+	5	560	c.336C>T	c.(334-336)ctC>ctT	p.L112L	ACOXL_ENST00000340561.4_Silent_p.L112L|ACOXL_ENST00000439055.1_Silent_p.L112L			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	112					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	p.L112L(3)		kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						CCTTTGACCTCTCTGCCCAGG	0.552000													9	24					0	0	0.006214	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	23003353	23003353	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:23003353G>A	ENST00000312584.3	-	5	658	c.564C>T	c.(562-564)tcC>tcT	p.S188S		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	188					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TTTTCCCAGTGGAACTGGCAG	0.517000													10	60					0	0	0.008291	0	0
C1orf173	127254	broad.mit.edu	37	1	75072435	75072435	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:75072435C>T	ENST00000326665.5	-	10	1557	c.1339G>A	c.(1339-1341)Gag>Aag	p.E447K	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.E250K	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	447	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						GTTTTGTTCTCCTTGATCTCA	0.403000													47	88					0	0	0.014410	0	0
OGFRL1	79627	broad.mit.edu	37	6	72011334	72011334	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:72011334G>A	ENST00000370435.4	+	7	1072	c.938G>A	c.(937-939)gGa>gAa	p.G313E	RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	313						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						TTTATCTGGGGACCGCCTCGA	0.463000													13	33					0	0	0.001855	0	0
SLC35G5	83650	broad.mit.edu	37	8	11188688	11188688	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:11188688C>T	ENST00000382435.4	+	1	292	c.73C>T	c.(73-75)Ctc>Ttc	p.L25F		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	25						integral to membrane		p.L25F(1)									TCCACCCAGCCTCCGCTGGCA	0.667000													13	53					0	0	0.001855	0	0
GALNT13	114805	broad.mit.edu	37	2	155265588	155265588	+	Silent	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:155265588A>T	ENST00000392825.3	+	11	1956	c.1389A>T	c.(1387-1389)ggA>ggT	p.G463G	GALNT13_ENST00000409237.1_Silent_p.G463G|GALNT13_ENST00000487047.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	463	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GTATGGGAGGAAATCAGGTAA	0.358000													13	55					0	0	0.003163	0	0
DOCK2	1794	broad.mit.edu	37	5	169461457	169461457	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:169461457C>T	ENST00000256935.8	+	35	3602	c.3522C>T	c.(3520-3522)ttC>ttT	p.F1174F	DOCK2_ENST00000520908.1_Silent_p.F666F|DOCK2_ENST00000540750.1_Silent_p.F235F|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1174	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.F1174F(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGAGAACTTCGTGAACCTGG	0.572000													13	32					0	0	0.013537	0	0
CYFIP2	26999	broad.mit.edu	37	5	156787375	156787375	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:156787375C>T	ENST00000347377.6	+	25	3334	c.2903C>T	c.(2902-2904)tCc>tTc	p.S968F	CYFIP2_ENST00000541131.1_Missense_Mutation_p.S893F|CYFIP2_ENST00000522463.1_Missense_Mutation_p.S772F|CYFIP2_ENST00000318218.6_Missense_Mutation_p.S993F|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000377576.3_Missense_Mutation_p.S968F|CYFIP2_ENST00000435847.2_Missense_Mutation_p.S667F|CYFIP2_ENST00000521420.1_Missense_Mutation_p.S942F	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	993					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)			GAGTATGGCTCCCCAGGTTGG	0.517000													47	136					0	0	0.014410	0	0
NOP9	161424	broad.mit.edu	37	14	24771528	24771528	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:24771528C>T	ENST00000267425.3	+	5	1134	c.1041C>T	c.(1039-1041)ctC>ctT	p.L347L	NOP9_ENST00000396802.3_Silent_p.L347L	NM_174913.1	NP_777573.1			NOP9 nucleolar protein																		TCCAGAGCCTCTTTGAGGAGC	0.577000													27	86					0	0	0.004656	0	0
PZP	5858	broad.mit.edu	37	12	9303255	9303255	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:9303255C>T	ENST00000261336.2	-	34	4397	c.4369G>A	c.(4369-4371)Gat>Aat	p.D1457N	PZP_ENST00000381997.2_Missense_Mutation_p.D1243N	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TCATAGTAATCATAGACTTTA	0.403000													20	20					0	0	0.012319	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806870	97806870	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:97806870C>T	ENST00000358642.2	+	1	854	c.854C>T	c.(853-855)cCc>cTc	p.P285L		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ATTATAATTCCCCTGCTAAAC	0.373000													8	28					0	0	0.003080	0	0
REM2	161253	broad.mit.edu	37	14	23354209	23354209	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:23354209G>A	ENST00000267396.4	+	2	553	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	REM2_ENST00000536884.1_Missense_Mutation_p.E144K	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	144					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		CAGTGCTCACGAACCGGAGAA	0.612000													17	18					0	0	0.004007	0	0
TAF4	6874	broad.mit.edu	37	20	60589718	60589718	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:60589718G>C	ENST00000252996.3	-	2	1405	c.1406C>G	c.(1405-1407)cCt>cGt	p.P469R		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	469					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GGCCTGCTGAGGAATCATTAA	0.627000													16	40					0	0	0.004990	0	0
HECW2	57520	broad.mit.edu	37	2	197182092	197182092	+	Splice_Site	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:197182092A>G	ENST00000260983.2	-	10	2522	c.2338_splice	c.e10-1	p.G780_splice	HECW2_ENST00000409111.1_Splice_Site_p.G424_splice	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	780	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TGGCTTGAGAACCTAGGATTA	0.473000													4	7					0	0	0.009096	0	0
ZAN	7455	broad.mit.edu	37	7	100348838	100348838	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100348838G>A	ENST00000542585.1	+	0	1703				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AAGCAACACGGCCTCTGTGGT	0.522000													10	14					0	0	0.013537	0	0
TTN	7273	broad.mit.edu	37	2	179587620	179587620	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179587620C>G	ENST00000589042.1	-	76	22230	c.22006G>C	c.(22006-22008)Gtt>Ctt	p.V7336L	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V6092L|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V7019L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7019	Ig-like 55.						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)			GAATCTCCAACTGCTGCCTCC	0.418000													8	11					0	0	0.003080	0	0
ARMC4	55130	broad.mit.edu	37	10	28283909	28283909	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:28283909C>T	ENST00000305242.5	-	2	255	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K		NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	55							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCAAGTGGTTCCACAAAAACA	0.378000													4	14					0	0	0.009096	0	0
ASB13	79754	broad.mit.edu	37	10	5690986	5690986	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:5690986T>A	ENST00000357700.6	-	4	490	c.464A>T	c.(463-465)cAc>cTc	p.H155L	ASB13_ENST00000479033.1_5'UTR	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	155					intracellular signal transduction		protein binding			NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		ACAGGCAACGTGCAGAGGGGT	0.537000													17	52					0	0	0.004990	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48916900	48916900	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:48916900G>A	ENST00000311378.4	+	2	779	c.251G>A	c.(250-252)gGg>gAg	p.G84E	WFIKKN2_ENST00000426127.1_5'UTR	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	84	WAP.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AACGTATGTGGGACCAAGAGC	0.582000													17	12					0	0	0.007413	0	0
ADAM28	10863	broad.mit.edu	37	8	24167449	24167449	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:24167449G>A	ENST00000265769.4	+	3	303	c.193G>A	c.(193-195)Gga>Aga	p.G65R	RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.G65R|ADAM28_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	65					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GACAATTAATGGAAAAATTGC	0.294000													10	60					0	0	0.013537	0	0
DSCAML1	57453	broad.mit.edu	37	11	117301631	117301631	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:117301631G>A	ENST00000321322.6	-	32	5674	c.5673C>T	c.(5671-5673)atC>atT	p.I1891I	DSCAML1_ENST00000527706.1_Silent_p.I1621I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1831					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)		AGCACTCGGTGATCTCAAACT	0.582000													18	117					0	0	0.006122	0	0
LILRB1	10859	broad.mit.edu	37	19	55146120	55146120	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55146120C>T	ENST00000396331.1	+	11	1746	c.1389C>T	c.(1387-1389)atC>atT	p.I463I	LILRB1_ENST00000396321.2_Silent_p.I463I|LILRB1_ENST00000418536.2_Silent_p.I447I|LILRB1_ENST00000396315.1_Silent_p.I464I|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396317.1_Silent_p.I447I|LILRB1_ENST00000448689.1_Silent_p.I463I|LILRB1_ENST00000396327.3_Silent_p.I464I|LILRB1_ENST00000324602.7_Silent_p.I464I|LILRB1_ENST00000434867.2_Silent_p.I463I|LILRB1_ENST00000427581.2_Silent_p.I513I|LILRB1_ENST00000396332.4_Silent_p.I463I	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	463					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.I463I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGGTTGTGATCGGCATCTTGG	0.567000										HNSCC(37;0.09)			5	21					0	0	0.000602	0	0
CCDC87	55231	broad.mit.edu	37	11	66358663	66358663	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:66358663G>A	ENST00000333861.3	-	1	1891	c.1824C>T	c.(1822-1824)ttC>ttT	p.F608F		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	608										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TGACATGAAGGAAATCTGTTT	0.483000													26	59					0	0	0.003954	0	0
EPHA8	2046	broad.mit.edu	37	1	22913001	22913001	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:22913001C>T	ENST00000166244.3	+	4	924	c.852C>T	c.(850-852)gcC>gcT	p.A284A	EPHA8_ENST00000374644.4_Silent_p.A284A|EPHA8_ENST00000538803.1_Silent_p.A284A	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	284	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACAAGTCAGCCCCTGGGGACC	0.677000													17	34					0	0	0.006122	0	0
PXDN	7837	broad.mit.edu	37	2	1670155	1670155	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:1670155G>A	ENST00000252804.4	-	10	1172	c.1122C>T	c.(1120-1122)tcC>tcT	p.S374S	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	374	Ig-like C2-type 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTCTCGTCCAGGAGATCCGCG	0.622000													8	23					0	0	0.006214	0	0
DUSP7	1849	broad.mit.edu	37	3	52088020	52088020	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:52088020G>A	ENST00000495880.1	-	2	1071	c.888C>T	c.(886-888)atC>atT	p.I296I	DUSP7_ENST00000296483.6_Silent_p.I245I			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	296					inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAGAGATGGGGATCTGCTTGT	0.577000													27	58					0	0	0.004656	0	0
MROH7	374977	broad.mit.edu	37	1	55174728	55174728	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:55174728C>T	ENST00000414150.2	+	23	3987	c.3709C>T	c.(3709-3711)Cgt>Tgt	p.R1237C	MROH7_ENST00000409996.1_Missense_Mutation_p.R805C|MROH7_ENST00000454855.2_Missense_Mutation_p.R755C|MROH7_ENST00000421030.2_Missense_Mutation_p.R1237C					maestro heat-like repeat family member 7																		GACAGAAGATCGTCTGAATGA	0.517000													30	76					0	0	0.012213	0	0
DACH2	117154	broad.mit.edu	37	X	85403980	85403980	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:85403980C>T	ENST00000373131.1	+	1	519	c.356C>T	c.(355-357)tCc>tTc	p.S119F	DACH2_ENST00000373125.4_Missense_Mutation_p.S119F	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	119	DACHbox-N.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CTGGATATATCCCCCGTGGTG	0.562000													15	12					0	0	0.004007	0	0
OR6B1	135946	broad.mit.edu	37	7	143701353	143701353	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:143701353G>A	ENST00000408922.2	+	1	332	c.264G>A	c.(262-264)gtG>gtA	p.V88V		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TTTGGTCTGTGAACAACAGCA	0.468000													19	88					0	0	0.010504	0	0
FRMPD1	22844	broad.mit.edu	37	9	37692689	37692689	+	Silent	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:37692689A>C	ENST00000539465.1	+	2	644	c.51A>C	c.(49-51)atA>atC	p.I17I	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.I17I			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	17						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CACATAGAATAGAACAAATGG	0.473000													26	59					0	0	0.004656	0	0
CSF1R	1436	broad.mit.edu	37	5	149449566	149449566	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:149449566C>T	ENST00000286301.3	-	10	1671	c.1380G>A	c.(1378-1380)caG>caA	p.Q460Q		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	460	Ig-like C2-type 5.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGAAGGGCTCCTGGCTCAGGA	0.587000													11	27					0	0	0.010729	0	0
TTN	7273	broad.mit.edu	37	2	179464302	179464302	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179464302C>T	ENST00000589042.1	-	289	56550	c.56326G>A	c.(56326-56328)Gag>Aag	p.E18776K	TTN_ENST00000460472.2_Missense_Mutation_p.E9711K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E9836K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E16208K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E9903K|TTN_ENST00000591111.1_Missense_Mutation_p.E17135K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17135	Fibronectin type-III 36.						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)			AGTCTCATCTCCTTTGATGCT	0.383000													58	181					0	0	0.014410	0	0
DNAH8	1769	broad.mit.edu	37	6	38890955	38890955	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:38890955T>A	ENST00000359357.3	+	70	10387	c.10133T>A	c.(10132-10134)aTt>aAt	p.I3378N	DNAH8_ENST00000441566.1_Missense_Mutation_p.I3342N|RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.I3595N					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						AAAGCTCAGATTAATAGGTGG	0.438000													7	21					0	0	0.004482	0	0
LPHN2	23266	broad.mit.edu	37	1	82456238	82456238	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:82456238C>T	ENST00000370728.1	+	25	4434	c.3789C>T	c.(3787-3789)atC>atT	p.I1263I	LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000394879.1_Silent_p.I1265I|LPHN2_ENST00000359929.3_Silent_p.I1207I|LPHN2_ENST00000370725.1_Silent_p.I1278I|LPHN2_ENST00000370721.1_Silent_p.I1188I|LPHN2_ENST00000319517.6_Silent_p.I1207I|LPHN2_ENST00000370730.1_Silent_p.I1220I|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000335786.5_Silent_p.I1220I|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000370717.2_Silent_p.I1278I|LPHN2_ENST00000370723.1_Silent_p.I1265I|LPHN2_ENST00000271029.4_Silent_p.I1235I|LPHN2_ENST00000370727.1_Silent_p.I1235I			O95490	LPHN2_HUMAN	latrophilin 2	1263					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGAAAATGATCATTTCAGAAT	0.463000													12	26					0	0	0.013537	0	0
OR5D16	390144	broad.mit.edu	37	11	55606305	55606305	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:55606305A>C	ENST00000378396.1	+	1	78	c.78A>C	c.(76-78)caA>caC	p.Q26H		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGGAACTGCAAATTCCCCTCT	0.433000													37	47					0	0	0.005524	0	0
SIK1	150094	broad.mit.edu	37	21	44836679	44836679	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:44836679G>A	ENST00000270162.6	-	14	2427	c.2295C>T	c.(2293-2295)gaC>gaT	p.D765D		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	765					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CCATCTCACAGTCCCCCTGCA	0.672000													9	5					0	0	0.004482	0	0
FANCA	2175	broad.mit.edu	37	16	89858885	89858885	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:89858885G>A	ENST00000389301.3	-	12	1107	c.1077C>T	c.(1075-1077)taC>taT	p.Y359Y	FANCA_ENST00000568369.1_Silent_p.Y359Y	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	359					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TCACCCTGCGGTACAGTGAGG	0.547000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	41					0	0	0.008291	0	0
MYO9A	4649	broad.mit.edu	37	15	72122637	72122637	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:72122637G>A	ENST00000356056.5	-	40	7325	c.6853C>T	c.(6853-6855)Cgt>Tgt	p.R2285C	MYO9A_ENST00000424560.1_Missense_Mutation_p.R2356C|MYO9A_ENST00000564571.1_Missense_Mutation_p.R2285C|MYO9A_ENST00000444904.1_Missense_Mutation_p.R2266C	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2285	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	p.R2285C(2)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTCCTCGACGAATACGCCCC	0.443000													14	20					0	0	0.003163	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84608517	84608517	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:84608517C>T	ENST00000344803.2	+	4	3179	c.3132C>T	c.(3130-3132)ccC>ccT	p.P1044P		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		GCTCATTCCCCATCCTCGGTC	0.428000													55	128					0	0	0.014410	0	0
STEAP4	79689	broad.mit.edu	37	7	87912132	87912132	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:87912132G>A	ENST00000380079.4	-	3	909	c.808C>T	c.(808-810)Ctg>Ttg	p.L270L	AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Intron|STEAP4_ENST00000414498.1_Silent_p.L270L|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000595121.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	270	Ferric oxidoreductase.				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CCTCGGTACAGTTGTAGAATG	0.473000													7	40					0	0	0.003080	0	0
KCNC1	3746	broad.mit.edu	37	11	17757825	17757825	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:17757825C>T	ENST00000379472.3	+	1	306	c.276C>T	c.(274-276)gcC>gcT	p.A92A	KCNC1_ENST00000265969.6_Silent_p.A92A	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	92						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AGGAGCTGGCCTTCTGGGGCA	0.692000													19	36					0	0	0.014323	0	0
MUC17	140453	broad.mit.edu	37	7	100686280	100686280	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100686280C>T	ENST00000306151.4	+	3	11647	c.11583C>T	c.(11581-11583)gtC>gtT	p.V3861V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3861						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGCTGAAGTCACTACCATAC	0.488000													12	63					0	0	0.013537	0	0
LRP1B	53353	broad.mit.edu	37	2	141093194	141093194	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:141093194G>A	ENST00000389484.3	-	78	13077	c.12106C>T	c.(12106-12108)Cct>Tct	p.P4036S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4036					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.P4036S(1)		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)		CCTCTTTTAGGATTTACTGCA	0.383000										TSP Lung(27;0.18)			33	62					0	0	0.012213	0	0
XDH	7498	broad.mit.edu	37	2	31600069	31600069	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:31600069C>T	ENST00000379416.3	-	14	1325	c.1277G>A	c.(1276-1278)cGg>cAg	p.R426Q		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	426					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	ATCTTCTCTCCGGGAGGCCTG	0.512000													17	51					0	0	0.008871	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222729	140222729	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140222729C>T	ENST00000531613.1	+	1	1823	c.1823C>T	c.(1822-1824)tCg>tTg	p.S608L	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.S608L|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1												p.S608L(4)		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)			GCGTGGCTTTCGTATGAGCTG	0.682000													10	38					0	0	0.010729	0	0
FAM74A3	728495	broad.mit.edu	37	9	40716146	40716146	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:40716146C>T	ENST00000604146.1	+	0	485					NR_026801.1															endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AGAGGCTGTCCCGGAGAAGAC	0.512000													7	51					0	0	0.001984	0	0
TRANK1	9881	broad.mit.edu	37	3	36874009	36874009	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:36874009C>T	ENST00000429976.2	-	21	7180	c.6933G>A	c.(6931-6933)gaG>gaA	p.E2311E	TRANK1_ENST00000428977.2_Silent_p.E1761E|TRANK1_ENST00000301807.6_Silent_p.E1761E			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2311					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGTAGTTGTCCTCCTCCTGGT	0.517000													35	72					0	0	0.003755	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406334	38406334	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:38406334C>T	ENST00000322350.5	+	7	1165	c.819C>T	c.(817-819)tcC>tcT	p.S273S	EGFLAM_ENST00000336740.6_Silent_p.S39S|EGFLAM_ENST00000354891.3_Silent_p.S273S|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	273						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)					TGGATATTTCCTTTGAGGAGG	0.438000													7	33					0	0	0.003080	0	0
LRP2	4036	broad.mit.edu	37	2	170038771	170038771	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:170038771C>T	ENST00000263816.3	-	51	10189	c.9904G>A	c.(9904-9906)Gga>Aga	p.G3302R	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3302					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)	CGGCGGTGTCCACCATTGAGG	0.512000													44	81					0	0	0.009718	0	0
MOG	4340	broad.mit.edu	37	6	29638548	29638548	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:29638548G>A	ENST00000376894.4	+	7	898	c.780G>A	c.(778-780)agG>agA	p.R260R	MOG_ENST00000483013.1_Intron|MOG_ENST00000376898.3_Intron|MOG_ENST00000376891.4_Intron|MOG_ENST00000376888.2_Intron|MOG_ENST00000416766.2_Intron|MOG_ENST00000376917.3_Intron|MOG_ENST00000490427.1_Intron|MOG_ENST00000396701.2_Intron|MOG_ENST00000494692.1_Intron|MOG_ENST00000376902.3_Intron|MOG_ENST00000533330.2_Intron|MOG_ENST00000396704.3_Intron|MOG_ENST00000431798.2_Intron			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	0					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GCCAGGAAAGGGAGACAGAAG	0.463000													7	9					0	0	0.001984	0	0
OR52I2	143502	broad.mit.edu	37	11	4608102	4608102	+	Silent	SNP	G	G	A	rs2115929		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:4608102G>A	ENST00000312614.4	+	1	82	c.60G>A	c.(58-60)agG>agA	p.R20R		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCATTAACAGGAAAAAAGTCT	0.453000													19	61					0	0	0.008871	0	0
CSMD1	64478	broad.mit.edu	37	8	3566012	3566012	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:3566012C>T	ENST00000520002.1	-	7	1488	c.931_splice	c.e7-1	p.V311_splice	CSMD1_ENST00000602557.1_Splice_Site_p.V311_splice|CSMD1_ENST00000542608.1_Splice_Site_p.V311_splice|CSMD1_ENST00000400186.3_Splice_Site_p.V311_splice|CSMD1_ENST00000602723.1_Splice_Site_p.V311_splice|CSMD1_ENST00000539096.1_Splice_Site_p.V311_splice|CSMD1_ENST00000537824.1_Splice_Site_p.V311_splice			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	311	CUB 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCGCCTTTTTCACTGGAAGAA	0.428000													4	27					0	0	0.009096	0	0
RCN1	5954	broad.mit.edu	37	11	32119928	32119928	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:32119928C>T	ENST00000054950.3	+	3	774	c.481C>T	c.(481-483)Cat>Tat	p.H161Y	RCN1_ENST00000532942.1_Missense_Mutation_p.H110Y|RP1-65P5.3_ENST00000533009.1_RNA	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	161						endoplasmic reticulum lumen	calcium ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					TTCTTCAGATCATCACACCTT	0.468000													9	47					0	0	0.013537	0	0
CMTM8	152189	broad.mit.edu	37	3	32409428	32409428	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:32409428C>T	ENST00000307526.3	+	3	680	c.386C>T	c.(385-387)tCc>tTc	p.S129F	CMTM8_ENST00000458535.2_Missense_Mutation_p.S71F	NM_178868.3	NP_849199.2	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing 8	129	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						GATGCATCTTCCGTCTCCCCT	0.587000													19	45					0	0	0.007413	0	0
SLC30A8	169026	broad.mit.edu	37	8	118184871	118184871	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:118184871C>T	ENST00000427715.2	+	11	1348	c.914C>T	c.(913-915)cCa>cTa	p.P305L	SLC30A8_ENST00000519688.1_Missense_Mutation_p.P305L|SLC30A8_ENST00000521243.1_Missense_Mutation_p.P305L|SLC30A8_ENST00000456015.2_Missense_Mutation_p.P354L	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	354					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			ATGGAATCTCCAGTTGACCAG	0.512000													148	205					0	0	0.014410	0	0
WDR49	151790	broad.mit.edu	37	3	167277998	167277998	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:167277998C>T	ENST00000308378.3	-	5	810	c.505G>A	c.(505-507)Ggg>Agg	p.G169R	WDR49_ENST00000476376.1_5'UTR|WDR49_ENST00000453925.2_Missense_Mutation_p.G222R|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	169										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ACAGTAGACCCTGTATCAGAG	0.378000													19	21					0	0	0.007413	0	0
CASS4	57091	broad.mit.edu	37	20	55027835	55027835	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:55027835G>A	ENST00000371336.3	+	5	1804	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Missense_Mutation_p.E535K	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	535					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TGAAACAAAGGAAAGCTTGGA	0.498000													7	32					0	0	0.003080	0	0
ZNF648	127665	broad.mit.edu	37	1	182025748	182025748	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:182025748G>A	ENST00000339948.3	-	2	1605	c.1398C>T	c.(1396-1398)caC>caT	p.H466H		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GGATGCGCTGGTGGCGCACGA	0.667000													7	8					0	0	0.001984	0	0
DAB2	1601	broad.mit.edu	37	5	39381674	39381674	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:39381674G>A	ENST00000545653.1	-	10	1853	c.1323C>T	c.(1321-1323)ccC>ccT	p.P441P	DAB2_ENST00000509337.1_Silent_p.P441P|DAB2_ENST00000320816.6_Silent_p.P462P|DAB2_ENST00000339788.6_Silent_p.P244P	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	462					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	p.P462P(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GTTCTGAGACGGGAGGAGCAA	0.537000													13	54					0	0	0.013537	0	0
OR52L1	338751	broad.mit.edu	37	11	6008110	6008110	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:6008110G>A	ENST00000332249.4	-	1	105	c.51C>T	c.(49-51)ctC>ctT	p.L17L		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L2L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATTGCTAAGGAGCATTATCA	0.463000													5	47					0	0	0.000602	0	0
LINC00842	643650	broad.mit.edu	37	10	47133708	47133708	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:47133708C>T	ENST00000422732.2	-	0	435					NR_033957.1																						AGAACCACTTCGACCTCTTTG	0.468000													6	58					0	0	0.001984	0	0
CARD11	84433	broad.mit.edu	37	7	2976698	2976698	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:2976698G>A	ENST00000396946.4	-	9	1717	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	438					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGTCCTTGGAGAGGCGCCGCA	0.662000			Mis		DLBCL								13	34					0	0	0.001855	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053777	95053777	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:95053777G>A	ENST00000329597.7	+	3	288	c.78G>A	c.(76-78)gaG>gaA	p.E26E	SERPINA5_ENST00000554276.1_Silent_p.E26E|SERPINA5_ENST00000554866.1_Silent_p.E26E|SERPINA5_ENST00000553780.1_Silent_p.E26E	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	26					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	ACCCCCGGGAGATGAAGAAGA	0.597000													23	53					0	0	0.012319	0	0
DEPTOR	64798	broad.mit.edu	37	8	121015293	121015293	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:121015293T>A	ENST00000286234.5	+	6	998	c.868T>A	c.(868-870)Ttc>Atc	p.F290I	DEPTOR_ENST00000518057.1_3'UTR|DEPTOR_ENST00000523492.1_Missense_Mutation_p.F189I	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	290	Ser-rich.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						cagcggctacttcagcagcag	0.612000													8	16					0	0	0.004482	0	0
TCEA2	6919	broad.mit.edu	37	20	62698298	62698298	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:62698298C>T	ENST00000395053.3	+	3	321	c.166C>T	c.(166-168)Ctt>Ttt	p.L56F	TCEA2_ENST00000361317.2_Missense_Mutation_p.L29F|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000343484.5_Missense_Mutation_p.L56F			Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	56	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TGTCAACGCCCTTCGGAAGCA	0.622000													3	14					0	0	0.004672	0	0
HEYL	26508	broad.mit.edu	37	1	40097243	40097243	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:40097243C>T	ENST00000372852.3	-	3	475	c.156G>A	c.(154-156)gaG>gaA	p.E52E	HEYL_ENST00000535435.1_Silent_p.E24E	NM_014571.3	NP_055386.1	Q9NQ87	HEYL_HUMAN	hes-related family bHLH transcription factor with YRPW motif-like	52	Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity).				multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GACGCCGTTTCTCTATGATCT	0.448000													18	29					0	0	0.010504	0	0
LEPREL1	55214	broad.mit.edu	37	3	189711983	189711983	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:189711983G>A	ENST00000319332.5	-	3	920	c.723C>T	c.(721-723)ttC>ttT	p.F241F	LEPREL1_ENST00000427335.2_Silent_p.F60F	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	241					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TATCTTCAACGAAATATTCTC	0.413000													6	32					0	0	0.001984	0	0
PIP4K2A	5305	broad.mit.edu	37	10	22896936	22896936	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:22896936G>A	ENST00000376573.4	-	3	487	c.259C>T	c.(259-261)Cat>Tat	p.H87Y	PIP4K2A_ENST00000545335.1_Missense_Mutation_p.H28Y|PIP4K2A_ENST00000422321.1_5'UTR	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	87	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						AACTTGAAATGGCTCGGCATG	0.463000													10	18					0	0	0.010729	0	0
AFF2	2334	broad.mit.edu	37	X	148072755	148072755	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:148072755C>T	ENST00000370460.2	+	21	4308	c.3829C>T	c.(3829-3831)Ctg>Ttg	p.L1277L	AFF2_ENST00000342251.3_Silent_p.L1244L|AFF2_ENST00000286437.5_Silent_p.L918L|AFF2_ENST00000370457.5_Silent_p.L1242L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1277					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTGGTGATCTGGACACGCT	0.488000													32	15					0	0	0.010818	0	0
SRRT	51593	broad.mit.edu	37	7	100479839	100479839	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100479839C>T	ENST00000388793.4	+	5	784	c.564C>T	c.(562-564)ttC>ttT	p.F188F	SRRT_ENST00000432932.1_Silent_p.F188F|SRRT_ENST00000347433.4_Silent_p.F188F|SRRT_ENST00000457580.2_Silent_p.F188F	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	188					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGGATTTCTTCCTGGCGCACA	0.592000													11	30					0	0	0.010729	0	0
TNXB	7148	broad.mit.edu	37	6	32020716	32020716	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:32020716G>A	ENST00000375244.3	-	26	9047	c.8846C>T	c.(8845-8847)cCc>cTc	p.P2949L	TNXB_ENST00000375247.2_Missense_Mutation_p.P2947L			P22105	TENX_HUMAN	tenascin XB	2994	Fibronectin type-III 21.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCCTCAGGGGGCTCCGGGGC	0.662000													116	234					0	0	0.014410	0	0
CADM3	57863	broad.mit.edu	37	1	159169565	159169565	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:159169565C>T	ENST00000368125.4	+	8	1134	c.977C>T	c.(976-978)tCc>tTc	p.S326F	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Missense_Mutation_p.S360F|CADM3_ENST00000497636.1_3'UTR	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	326					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CCCTCCTCCTCCAGCACCTAC	0.532000													11	39					0	0	0.013537	0	0
CD34	947	broad.mit.edu	37	1	208073331	208073331	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:208073331G>A	ENST00000356522.4	-	2	418	c.97C>T	c.(97-99)Ctt>Ttt	p.L33F	CD34_ENST00000310833.7_Missense_Mutation_p.L33F|CD34_ENST00000537704.1_5'UTR	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	33					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						TTGTTGTCAAGACTCATGAAC	0.428000													14	27					0	0	0.004007	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74904306	74904306	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:74904306C>T	ENST00000289575.5	+	9	1514	c.1119C>T	c.(1117-1119)ttC>ttT	p.F373F	SLCO2B1_ENST00000525650.1_Silent_p.F229F|SLCO2B1_ENST00000532236.1_Silent_p.F257F|SLCO2B1_ENST00000428359.2_Silent_p.F351F|SLCO2B1_ENST00000341411.4_Silent_p.F146F|SLCO2B1_ENST00000454962.2_Silent_p.F146F|SLCO2B1_ENST00000531756.1_Silent_p.F118F	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	373					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	ACCCCATCTTCCTGCTGGTGG	0.627000													32	44					0	0	0.009535	0	0
RFX2	5990	broad.mit.edu	37	19	6040144	6040144	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:6040144G>A	ENST00000303657.5	-	5	518	c.369C>T	c.(367-369)tcC>tcT	p.S123S	RFX2_ENST00000359161.3_Silent_p.S123S|RFX2_ENST00000592546.1_Silent_p.S123S	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCGCTGGCGGGGACGAGGCTG	0.677000													23	38					0	0	0.014323	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40259715	40259715	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:40259715C>T	ENST00000263791.5	+	9	1231	c.1188C>T	c.(1186-1188)ccC>ccT	p.P396P	EIF2AK4_ENST00000559624.1_Silent_p.P396P|EIF2AK4_ENST00000382727.2_Silent_p.P396P	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	396	Protein kinase 1.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		ACTCAGGCCCCATCCCTGTGC	0.517000													6	32					0	0	0.001168	0	0
DGCR14	8220	broad.mit.edu	37	22	19121774	19121774	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:19121774G>A	ENST00000252137.6	-	10	1409	c.1366C>T	c.(1366-1368)Ccg>Tcg	p.P456S		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	456					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					ATGGAGGCCGGGTCCTGTGTG	0.657000													13	25					0	0	0.001855	0	0
ASB11	140456	broad.mit.edu	37	X	15311353	15311353	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:15311353G>A	ENST00000537676.1	-	4	468	c.396C>T	c.(394-396)ttC>ttT	p.F132F	ASB11_ENST00000480796.1_Silent_p.F153F|ASB11_ENST00000380470.3_Silent_p.F136F|ASB11_ENST00000344384.4_Silent_p.F132F			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11	153					intracellular signal transduction					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					CCTTGGCTCCGAACTCCAGCA	0.552000													49	68					0	0	0.014410	0	0
MUC4	4585	broad.mit.edu	37	3	195517442	195517442	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:195517442G>A	ENST00000463781.3	-	2	1468	c.1009C>T	c.(1009-1011)Caa>Taa	p.Q337*	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Nonsense_Mutation_p.Q337*|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	342					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGTTGATTTGAGATACTCTG	0.458000													63	116					0	0	0.014410	0	0
XKR3	150165	broad.mit.edu	37	22	17288907	17288907	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:17288907C>T	ENST00000331428.5	-	2	159	c.57G>A	c.(55-57)tcG>tcA	p.S19S		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	19						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TTTCTTCTTTCGAAGATGAAA	0.423000													17	92					0	0	0.008871	0	0
ARID1B	57492	broad.mit.edu	37	6	157521850	157521850	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:157521850C>T	ENST00000346085.5	+	18	4123	c.4122C>T	c.(4120-4122)cgC>cgT	p.R1374R	ARID1B_ENST00000350026.5_Silent_p.R1361R|ARID1B_ENST00000275248.4_Silent_p.R1356R|ARID1B_ENST00000367148.1_Silent_p.R1414R	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1361					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ATTACAAACGCCATATGGACG	0.463000													24	57					0	0	0.004656	0	0
NLRC4	58484	broad.mit.edu	37	2	32474890	32474890	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:32474890C>T	ENST00000404025.2	-	5	2531	c.2043G>A	c.(2041-2043)ggG>ggA	p.G681G	NLRC4_ENST00000360906.5_Silent_p.G681G|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Silent_p.G681G			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	681					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGAATATTTTCCCCAGATATC	0.458000													21	65					0	0	0.008871	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497566	1497566	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:1497566A>G	ENST00000421627.2	+	2	841	c.707A>G	c.(706-708)aAc>aGc	p.N236S		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	315					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AGCGTGCTCAACCGGCACCAC	0.687000													32	65					0	0	0.004289	0	0
ZBBX	79740	broad.mit.edu	37	3	167033541	167033541	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:167033541C>T	ENST00000392766.2	-	15	1611	c.1271G>A	c.(1270-1272)cGa>cAa	p.R424Q	ZBBX_ENST00000455345.2_Missense_Mutation_p.R424Q|ZBBX_ENST00000392764.1_Missense_Mutation_p.R395Q|ZBBX_ENST00000307529.5_Missense_Mutation_p.R424Q|ZBBX_ENST00000392767.2_Missense_Mutation_p.R424Q	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	424						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GTTTTACCTTCGTTGACTGTC	0.323000													6	18					0	0	0.003080	0	0
ZNF845	91664	broad.mit.edu	37	19	53854385	53854385	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:53854385A>G	ENST00000458035.1	+	4	574	c.457A>G	c.(457-459)Atg>Gtg	p.M153V	ZNF845_ENST00000595091.1_Missense_Mutation_p.M153V	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TGAACTCCACATGTTTCAGAC	0.423000													5	129					0	0	0.000602	0	0
OR52I2	143502	broad.mit.edu	37	11	4608104	4608104	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:4608104A>T	ENST00000312614.4	+	1	84	c.62A>T	c.(61-63)aAa>aTa	p.K21I		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTAACAGGAAAAAAGTCTCA	0.448000													21	61					0	0	0.012319	0	0
PTPRD	5789	broad.mit.edu	37	9	8492952	8492952	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:8492952C>T	ENST00000381196.4	-	24	2920	c.2377G>A	c.(2377-2379)Gaa>Aaa	p.E793K	PTPRD_ENST00000358503.5_Missense_Mutation_p.E771K|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.E793K|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.E780K|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.E793K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	793	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TAGGAAGTTTCAGGCTGGAGC	0.488000										TSP Lung(15;0.13)			18	78					0	0	0.010504	0	0
CCDC27	148870	broad.mit.edu	37	1	3673449	3673449	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:3673449G>A	ENST00000294600.2	+	4	790	c.706G>A	c.(706-708)Gag>Aag	p.E236K		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	236										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		AGTCATCCACGAGAAGGTACT	0.612000													12	14					0	0	0.013537	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212379	26212379	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:26212379C>T	ENST00000379034.1	+	2	565	c.416C>T	c.(415-417)tCc>tTc	p.S139F		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	139	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCAAGCACTTCCCATGATGTC	0.537000													6	20					0	0	0.001168	0	0
VWA3A	146177	broad.mit.edu	37	16	22163875	22163875	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:22163875G>A	ENST00000389397.4	+	32	3493	c.631G>A	c.(631-633)Gga>Aga	p.G211R	VWA3A_ENST00000389398.5_Missense_Mutation_p.G1109R|VWA3A_ENST00000563755.1_Missense_Mutation_p.G211R			A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1109						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CTTCACCGGCGGACGCTATCA	0.557000													11	13					0	0	0.001855	0	0
ADAM18	8749	broad.mit.edu	37	8	39506003	39506003	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:39506003G>A	ENST00000265707.5	+	12	1232	c.1187G>A	c.(1186-1188)gGg>gAg	p.G396E	ADAM18_ENST00000541111.1_Intron|ADAM18_ENST00000379866.1_Missense_Mutation_p.G372E	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	396	Disintegrin.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TGTGGTAATGGGATTTTGGAA	0.318000													7	21					0	0	0.003080	0	0
HSCB	150274	broad.mit.edu	37	22	29139878	29139878	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:29139878C>T	ENST00000216027.3	+	2	310	c.245C>T	c.(244-246)tCc>tTc	p.S82F	HSCB_ENST00000398941.2_Missense_Mutation_p.S82F|HSCB_ENST00000495977.1_3'UTR	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	82	J.				iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)|lung(2)|skin(1)	4						AGCAACCGTTCCTTCAGAGTT	0.448000													25	52					0	0	0.005443	0	0
NTRK3	4916	broad.mit.edu	37	15	88680699	88680699	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:88680699G>A	ENST00000394480.1	-	7	879	c.558C>T	c.(556-558)aaC>aaT	p.N186N	NTRK3_ENST00000542733.2_Silent_p.N88N|NTRK3_ENST00000557856.1_Silent_p.N186N|NTRK3_ENST00000540489.2_Silent_p.N186N|NTRK3_ENST00000360948.2_Silent_p.N186N|NTRK3_ENST00000355254.2_Silent_p.N186N|NTRK3_ENST00000558676.1_Silent_p.N186N|NTRK3_ENST00000317501.3_Silent_p.N186N|NTRK3_ENST00000357724.2_Silent_p.N186N	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	186	LRRCT.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGCAGTAGAGGTTCTGGCTGT	0.592000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			4	16					0	0	0.009096	0	0
LHCGR	3973	broad.mit.edu	37	2	48915500	48915500	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:48915500C>T	ENST00000294954.7	-	11	1457	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	LHCGR_ENST00000344775.3_Missense_Mutation_p.R417Q|LHCGR_ENST00000405626.1_Missense_Mutation_p.R452Q|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	479					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.R479L(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	ATGTCTTAATCGCAGCTTTTG	0.448000													6	45					0	0	0.001168	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735475	55735475	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:55735475G>A	ENST00000312345.2	-	1	515	c.465C>T	c.(463-465)ttC>ttT	p.F155F		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AGGGCAAAAGGAAAATTTGGC	0.388000													9	37					0	0	0.006214	0	0
SLC25A12	8604	broad.mit.edu	37	2	172700971	172700971	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:172700971G>A	ENST00000422440.2	-	5	410	c.373C>T	c.(373-375)Cct>Tct	p.P125S	SLC25A12_ENST00000472748.1_5'UTR|SLC25A12_ENST00000392592.4_Missense_Mutation_p.P18S	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	125	EF-hand 3.				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	CAGTTAAAAGGGATATGATGA	0.328000													13	42					0	0	0.001855	0	0
WASF3	10810	broad.mit.edu	37	13	27256988	27256988	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:27256988C>T	ENST00000361042.4	+	9	1444	c.1219C>T	c.(1219-1221)Ccc>Tcc	p.P407S	WASF3_ENST00000335327.5_Missense_Mutation_p.P410S			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	410	Poly-Pro.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCCTCCTGGTCCCGGGTCTTC	0.687000													11	45					0	0	0.008291	0	0
DOPEY1	23033	broad.mit.edu	37	6	83869520	83869520	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:83869520C>T	ENST00000349129.2	+	37	7063	c.6803C>T	c.(6802-6804)tCa>tTa	p.S2268L	DOPEY1_ENST00000237163.5_Missense_Mutation_p.S2152L|DOPEY1_ENST00000369739.3_Missense_Mutation_p.S2259L|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2268					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TACAGGACTTCAGGGCCCTCT	0.463000													20	49					0	0	0.012319	0	0
PRKDC	5591	broad.mit.edu	37	8	48790352	48790352	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:48790352G>A	ENST00000314191.2	-	41	5349	c.5293C>T	c.(5293-5295)Ctt>Ttt	p.L1765F	PRKDC_ENST00000338368.3_Missense_Mutation_p.L1765F|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1766					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TCCCGACAAAGAACTTCTGTC	0.388000								Non-homologous end-joining					24	72					0	0	0.003330	0	0
SLC45A1	50651	broad.mit.edu	37	1	8384558	8384558	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:8384558C>T	ENST00000471889.1	+	2	554	c.169C>T	c.(169-171)Cgt>Tgt	p.R57C	SLC45A1_ENST00000289877.8_Missense_Mutation_p.R57C|SLC45A1_ENST00000377479.2_Missense_Mutation_p.R91C			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	57					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGTGCATTCGTCCCTCCCC	0.647000													10	30					0	0	0.010729	0	0
SYCP1	6847	broad.mit.edu	37	1	115487549	115487549	+	Silent	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:115487549T>C	ENST00000369522.3	+	25	2340	c.2100T>C	c.(2098-2100)gaT>gaC	p.D700D	SYCP1_ENST00000369518.1_Silent_p.D700D	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	700					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGAAATTGATAAGCGATGTC	0.264000													9	21					0	0	0.001855	0	0
DSG4	147409	broad.mit.edu	37	18	28989757	28989757	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:28989757G>A	ENST00000308128.4	+	14	2258	c.2123G>A	c.(2122-2124)cGg>cAg	p.R708Q	DSG4_ENST00000359747.4_Intron|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	708					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACCCAGGATCGGATGGATTCC	0.328000													14	23					0	0	0.006122	0	0
TRPC5	7224	broad.mit.edu	37	X	111090644	111090644	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:111090644C>T	ENST00000262839.2	-	6	2316	c.1398G>A	c.(1396-1398)agG>agA	p.R466R		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	466					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCCATTCCTCCCTTGGACGAG	0.433000													12	21					0	0	0.002450	0	0
FAM81B	153643	broad.mit.edu	37	5	94749851	94749851	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:94749851A>G	ENST00000283357.5	+	4	540	c.494A>G	c.(493-495)cAg>cGg	p.Q165R		NM_152548.2	NP_689761.2	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	165										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AGCCACATCCAGACCATCACC	0.448000													6	26					0	0	0.004482	0	0
HOXB7	3217	broad.mit.edu	37	17	46688173	46688173	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:46688173G>A	ENST00000239165.7	-	1	206	c.108C>T	c.(106-108)tcC>tcT	p.S36S	HOXB7_ENST00000567101.1_Intron	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	36						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						GCTGGGGGTTGGAAGCAAACG	0.582000													7	21					0	0	0.003080	0	0
COLGALT2	23127	broad.mit.edu	37	1	183909805	183909805	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:183909805T>G	ENST00000361927.4	-	11	1885	c.1514A>C	c.(1513-1515)gAa>gCa	p.E505A	COLGALT2_ENST00000367520.3_Missense_Mutation_p.E242A|COLGALT2_ENST00000367521.1_Missense_Mutation_p.E113A|COLGALT2_ENST00000486375.1_5'UTR|COLGALT2_ENST00000546159.1_Missense_Mutation_p.E505A	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		CTGTGCTCCTTCCAGAGAGAT	0.527000													26	60					0	0	0.005443	0	0
SIRPB1	10326	broad.mit.edu	37	20	1552369	1552369	+	Nonsense_Mutation	SNP	G	G	A	rs148690008		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:1552369G>A	ENST00000381605.4	-	3	812	c.748C>T	c.(748-750)Cga>Tga	p.R250*	SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	250					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CTTCTACCTCGGATGGCCTCA	0.597000													6	30					0	0	0.001984	0	0
GRIN3A	116443	broad.mit.edu	37	9	104390670	104390670	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:104390670G>A	ENST00000361820.3	-	4	2966	c.2366C>T	c.(2365-2367)tCc>tTc	p.S789F		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	789					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GAATCCTTGGGAAGGATGATG	0.328000													16	16					0	0	0.004990	0	0
PIANP	196500	broad.mit.edu	37	12	6804782	6804782	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:6804782C>T	ENST00000534837.1	-	5	870	c.641G>A	c.(640-642)gGg>gAg	p.G214E	PIANP_ENST00000320591.5_Missense_Mutation_p.G214E|PIANP_ENST00000540656.1_Missense_Mutation_p.G214E	NM_001244014.1	NP_001230943.1			PILR alpha associated neural protein																		ACCTTGCTGCCCTGAGGGTCT	0.647000													55	46					0	0	0.014410	0	0
SLC35F4	341880	broad.mit.edu	37	14	58063540	58063540	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:58063540C>T	ENST00000339762.6	-	1	75	c.76G>A	c.(76-78)Ggt>Agt	p.G26S	SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000556826.1_Intron|SLC35F4_ENST00000554729.1_5'UTR					solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGTGATATACCGCAAAGCCCA	0.423000													14	25					0	0	0.002450	0	0
TRHR	7201	broad.mit.edu	37	8	110131616	110131616	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:110131616C>T	ENST00000518632.1	+	3	1480	c.1129C>T	c.(1129-1131)Ctg>Ttg	p.L377L	TRHR_ENST00000311762.2_Silent_p.L377L			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	377						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TGACACTTACCTGTCTGCCAC	0.423000													25	68					0	0	0.004656	0	0
CAMK1D	57118	broad.mit.edu	37	10	12866547	12866547	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:12866547G>A	ENST00000378847.3	+	9	1254	c.917G>A	c.(916-918)tGg>tAg	p.W306*	CAMK1D_ENST00000378845.1_Nonsense_Mutation_p.W306*	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	306	Autoinhibitory domain (By similarity).|Calmodulin-binding (By similarity).					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		AAGAGCAAATGGAGAGTAAGT	0.507000													16	60					0	0	0.007413	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1905131	1905131	+	Missense_Mutation	SNP	C	C	T	rs111978809		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:1905131C>T	ENST00000518288.1	+	30	3972	c.3809C>T	c.(3808-3810)tCg>tTg	p.S1270L	ARHGEF10_ENST00000520359.1_Missense_Mutation_p.S1208L|ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.S1246L|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.S1271L|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.S1242L			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1271					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TTGGGAGATTCGCTGGGATCG	0.582000													33	57					0	0	0.007835	0	0
C16orf78	123970	broad.mit.edu	37	16	49433081	49433081	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:49433081C>T	ENST00000299191.3	+	5	807	c.690C>T	c.(688-690)ctC>ctT	p.L230L		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	230										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GGACCTTGCTCAAGTTGTGCA	0.468000													27	46					0	0	0.007291	0	0
BPIFB1	92747	broad.mit.edu	37	20	31878781	31878781	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:31878781C>T	ENST00000253354.1	+	5	545	c.384C>T	c.(382-384)atC>atT	p.I128I		NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	128						extracellular space	lipid binding										TCAAGACCATCGTGGAGTTCC	0.642000													8	17					0	0	0.003080	0	0
NYAP2	57624	broad.mit.edu	37	2	226447249	226447249	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:226447249G>A	ENST00000272907.6	+	4	1529	c.1116G>A	c.(1114-1116)atG>atA	p.M372I	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	372	Pro-rich.																TGTCTTACATGAAACAGCCAG	0.667000													7	3					0	0	0.004482	0	0
CRY2	1408	broad.mit.edu	37	11	45868990	45868990	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:45868990C>T	ENST00000443527.2	+	1	34	c.12C>T	c.(10-12)gtC>gtT	p.V4V	CRY2_ENST00000417225.2_Intron	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	0					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						TGGGCGGGGTCCACGTCGCCT	0.721000													16	31					0	0	0.004990	0	0
PRKCB	5579	broad.mit.edu	37	16	24196465	24196465	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:24196465G>A	ENST00000303531.7	+	14	1719	c.1567G>A	c.(1567-1569)Gat>Aat	p.D523N	PRKCB_ENST00000321728.7_Missense_Mutation_p.D523N	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	523	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GAAGTCCGTGGATTGGTGGGC	0.458000													16	80					0	0	0.004007	0	0
IQCK	124152	broad.mit.edu	37	16	19745082	19745082	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:19745082C>T	ENST00000320394.6	+	4	1008	c.309C>T	c.(307-309)tcC>tcT	p.S103S	IQCK_ENST00000433597.2_Silent_p.S15S|IQCK_ENST00000564186.1_Silent_p.S103S|IQCK_ENST00000541926.1_Silent_p.S103S	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K	103										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						TTCCGGTTTCCCATTTCACCA	0.438000													25	48					0	0	0.003330	0	0
THRB	7068	broad.mit.edu	37	3	24169111	24169111	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:24169111C>T	ENST00000396671.2	-	10	1371	c.1023G>A	c.(1021-1023)ctG>ctA	p.L341L	THRB_ENST00000416420.1_Silent_p.L341L|THRB_ENST00000356447.4_Silent_p.L341L|THRB_ENST00000280696.5_Silent_p.L356L	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	341	Interaction with NR2F6.|Ligand-binding.		L -> P (in GTHR).		regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	CCCCATTTTTCAGCTGGCCCC	0.537000													20	83					0	0	0.010504	0	0
FAM120B	84498	broad.mit.edu	37	6	170700139	170700139	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:170700139C>T	ENST00000476287.1	+	8	2637	c.2529C>T	c.(2527-2529)gtC>gtT	p.V843V	FAM120B_ENST00000540480.1_Silent_p.V855V|FAM120B_ENST00000537664.1_Silent_p.V866V|FAM120B_ENST00000252510.9_Silent_p.V175V	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	843					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TGAAGGCAGTCGTCTGCAAGG	0.572000													6	26					0	0	0.003080	0	0
SULF2	55959	broad.mit.edu	37	20	46365584	46365584	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:46365584G>A	ENST00000359930.4	-	3	1129	c.278C>T	c.(277-279)tCc>tTc	p.S93F	SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000467815.1_Missense_Mutation_p.S93F|SULF2_ENST00000361612.4_Missense_Mutation_p.S93F|SULF2_ENST00000484875.1_Missense_Mutation_p.S93F	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	93					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GAGGATGGAGGAGCGTGAGGG	0.607000													13	27					0	0	0.001855	0	0
HR	55806	broad.mit.edu	37	8	21979167	21979167	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:21979167G>A	ENST00000381418.4	-	9	3642	c.2162C>T	c.(2161-2163)tCc>tTc	p.S721F	HR_ENST00000312841.8_Missense_Mutation_p.S721F	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	721							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GCCATTGCAGGAAGGTTGTGG	0.547000													39	59					0	0	0.010771	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44612818	44612818	+	Missense_Mutation	SNP	G	G	A	rs151170690		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:44612818G>A	ENST00000273320.3	+	6	2645	c.2216G>A	c.(2215-2217)cGa>cAa	p.R739Q	ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.R739Q|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		CACCACCAGCGAACTCACACT	0.458000													21	47					0	0	0.014323	0	0
MRPS27	23107	broad.mit.edu	37	5	71516740	71516740	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:71516740G>C	ENST00000261413.5	-	11	1280	c.1241C>G	c.(1240-1242)gCc>gGc	p.A414G	MRPS27_ENST00000513900.1_Missense_Mutation_p.A428G|MRPS27_ENST00000457646.4_Missense_Mutation_p.A358G	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	414						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		ACCCTATTAGGCAGATGCCTT	0.557000													18	58					0	0	0.010504	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117400742	117400742	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:117400742C>T	ENST00000160373.3	-	10	3010	c.2919G>A	c.(2917-2919)agG>agA	p.R973R		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	973										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCACTGAAATCCTTAAGGGTA	0.328000													12	52					0	0	0.013537	0	0
LRP2	4036	broad.mit.edu	37	2	170070350	170070350	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:170070350G>A	ENST00000263816.3	-	36	6142	c.5857C>T	c.(5857-5859)Cga>Tga	p.R1953*		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1953					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)	AGGATCATTCGATCTGTTCCA	0.363000													12	34					0	0	0.013537	0	0
HEPHL1	341208	broad.mit.edu	37	11	93800693	93800693	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:93800693G>A	ENST00000315765.9	+	5	848	c.840G>A	c.(838-840)ccG>ccA	p.P280P		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	280	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GAAACTTCCCGGAGCCTGATA	0.468000													17	97					0	0	0.004990	0	0
PMFBP1	83449	broad.mit.edu	37	16	72164189	72164189	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:72164189C>T	ENST00000537465.1	-	12	1878	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K	PMFBP1_ENST00000237353.10_Missense_Mutation_p.E569K|PMFBP1_ENST00000355636.6_Missense_Mutation_p.E424K			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	574										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TGCCTCTTTTCCTTGTCTGAA	0.478000													4	52					0	0	0.009096	0	0
RGS4	5999	broad.mit.edu	37	1	163039213	163039213	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:163039213G>A	ENST00000421743.2	+	2	390	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	RGS4_ENST00000367908.4_5'UTR|RGS4_ENST00000527809.1_Intron|RGS4_ENST00000531057.1_5'UTR|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367909.6_5'UTR	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	0	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						GCTCAAAGCCGAAGCCACAGC	0.502000											OREG0013952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	11					0	0	0.001168	0	0
KDM5B	10765	broad.mit.edu	37	1	202698951	202698951	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:202698951G>A	ENST00000367265.3	-	26	5545	c.4381C>T	c.(4381-4383)Cgt>Tgt	p.R1461C	KDM5B_ENST00000367264.2_Missense_Mutation_p.R1497C	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1461					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TCAGCAGAACGAACTAATTCA	0.468000													48	90					0	0	0.014410	0	0
AKR1B15	441282	broad.mit.edu	37	7	134261723	134261723	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:134261723C>T	ENST00000457545.2	+	10	1094	c.834C>T	c.(832-834)atC>atT	p.I278I	AKR1B15_ENST00000423958.1_Silent_p.I250I	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	278							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						AGGTTCTGATCCGTTTCCATA	0.478000													21	101					0	0	0.002780	0	0
ZNF888	388559	broad.mit.edu	37	19	53418572	53418572	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:53418572G>A	ENST00000596623.1	-	0	427									zinc finger protein 888																		AATGTCAATAGACCCTGAAAT	0.418000													23	82					0	0	0.013726	0	0
NPLOC4	55666	broad.mit.edu	37	17	79580495	79580495	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:79580495G>A	ENST00000374747.5	-	4	364	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S	NPLOC4_ENST00000539314.1_5'UTR|NPLOC4_ENST00000574344.1_5'UTR|NPLOC4_ENST00000331134.6_Missense_Mutation_p.P79S			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	79					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			AGGCTCGAGGGAAACAGGAAC	0.512000													12	9					0	0	0.010729	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21457408	21457408	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:21457408G>A	ENST00000307378.6	-	7	1262	c.542C>T	c.(541-543)tCc>tTc	p.S181F	SLCO1A2_ENST00000537524.1_Missense_Mutation_p.S49F|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.S49F|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.S179F|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.S181F	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	181					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.S181F(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TTCTATATAGGAAATACCCAA	0.373000													28	14					0	0	0.005443	0	0
ANKLE1	126549	broad.mit.edu	37	19	17394161	17394161	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:17394161C>T	ENST00000394458.3	+	5	864	c.588C>T	c.(586-588)ccC>ccT	p.P196P	ANKLE1_ENST00000404085.1_Silent_p.P218P|ANKLE1_ENST00000598347.1_Silent_p.P196P|ANKLE1_ENST00000433424.2_Silent_p.P250P|ANKLE1_ENST00000594072.1_Silent_p.P185P	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	196						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						TCCCTGTTCCCCTTGAAACTG	0.592000													32	67					0	0	0.013726	0	0
CCDC129	223075	broad.mit.edu	37	7	31683179	31683179	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:31683179G>A	ENST00000319386.3	+	11	2744	c.1751G>A	c.(1750-1752)gGa>gAa	p.G584E	CCDC129_ENST00000407970.3_Missense_Mutation_p.G732E|CCDC129_ENST00000409210.1_Missense_Mutation_p.G640E|CCDC129_ENST00000451887.2_Missense_Mutation_p.G758E			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	732										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GGTCCCAGAGGAACATCTTTA	0.507000													16	80					0	0	0.006122	0	0
TP53	7157	broad.mit.edu	37	17	7578454	7578454	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:7578454G>A	ENST00000420246.2	-	5	608	c.476C>T	c.(475-477)gCc>gTc	p.A159V	TP53_ENST00000359597.4_Missense_Mutation_p.A159V|TP53_ENST00000413465.2_Missense_Mutation_p.A159V|TP53_ENST00000455263.2_Missense_Mutation_p.A159V|TP53_ENST00000269305.4_Missense_Mutation_p.A159V|TP53_ENST00000445888.2_Missense_Mutation_p.A159V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	159	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (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.A159V(33)|p.0?(8)|p.A159D(7)|p.R158fs(6)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R158fs*11(1)|p.A66V(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.A27V(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(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)		GATGGCCATGGCGCGGACGCG	0.627000		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)			19	26					0	0	0.012319	0	0
FANCM	57697	broad.mit.edu	37	14	45633685	45633685	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:45633685C>T	ENST00000267430.5	+	10	1790	c.1705C>T	c.(1705-1707)Cgt>Tgt	p.R569C	FANCM_ENST00000556036.1_Missense_Mutation_p.R569C|FANCM_ENST00000542564.2_Missense_Mutation_p.R543C	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	569	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	p.R569C(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GAGCCCAATTCGTCTTGTACA	0.433000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				12	41					0	0	0.013537	0	0
MUC17	140453	broad.mit.edu	37	7	100682112	100682112	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100682112A>G	ENST00000306151.4	+	3	7479	c.7415A>G	c.(7414-7416)gAg>gGg	p.E2472G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2472	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCAGTTCTGAGGCTGGCACC	0.522000													68	186					0	0	0.014410	0	0
RCBTB1	55213	broad.mit.edu	37	13	50140794	50140794	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:50140794G>A	ENST00000378302.2	-	4	497	c.237C>T	c.(235-237)ctC>ctT	p.L79L	RCBTB1_ENST00000258646.3_Silent_p.L79L|RCBTB1_ENST00000546015.1_Silent_p.L79L	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	79					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		TCCCGTAACTGAGGCTTTTAA	0.418000													9	36					0	0	0.008291	0	0
OR5H1	26341	broad.mit.edu	37	3	97851841	97851841	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:97851841G>A	ENST00000354565.2	+	1	300	c.300G>A	c.(298-300)caG>caA	p.Q100Q	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GCAAGATACAGTTTTTTTCGT	0.393000													36	109					0	0	0.005524	0	0
NAT1	9	broad.mit.edu	37	8	18080218	18080218	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:18080218C>T	ENST00000539092.1	+	5	1353	c.662C>T	c.(661-663)tCa>tTa	p.S221L	NAT1_ENST00000307719.4_Missense_Mutation_p.S221L|NAT1_ENST00000517492.1_Missense_Mutation_p.S221L|NAT1_ENST00000520546.1_Missense_Mutation_p.S221L|NAT1_ENST00000535084.1_Missense_Mutation_p.S221L|NAT1_ENST00000518029.1_Missense_Mutation_p.S221L|NAT1_ENST00000541942.1_Missense_Mutation_p.S221L|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000545197.1_Missense_Mutation_p.S283L	NM_001160170.1|NM_001160172.1	NP_001153642.1|NP_001153644.1	P18440	ARY1_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	221					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		ACTAGTAAATCATTTTGTTCC	0.393000													9	38					0	0	0.004482	0	0
SNHG14	104472715	broad.mit.edu	37	15	25429530	25429530	+	RNA	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:25429530G>T	ENST00000424208.1	+	0	450				SNORD115-8_ENST00000363856.1_RNA	NR_003305.1																						ATTACGCTGAGGCCCAGCCTA	0.517000													49	133					2.69953e-25	2.9652e-25	0.014410	1	0
CHN1	1123	broad.mit.edu	37	2	175677170	175677170	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:175677170G>A	ENST00000409900.3	-	9	1066	c.753C>T	c.(751-753)gtC>gtT	p.V251V	CHN1_ENST00000295497.7_Silent_p.V126V|CHN1_ENST00000409597.1_Silent_p.V67V|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409156.3_Silent_p.V225V	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	251					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			AGTCATTTGGGACCATCTTGG	0.403000			T	TAF15	extraskeletal myxoid chondrosarcoma								13	41					0	0	0.002450	0	0
FSCB	84075	broad.mit.edu	37	14	44974751	44974751	+	Silent	SNP	C	C	T	rs17115207	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:44974751C>T	ENST00000340446.4	-	1	1731	c.1440G>A	c.(1438-1440)acG>acA	p.T480T		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	480	Ala-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CAGGAGGCTCCGTAGCTGCTA	0.507000													15	10					0	0	0.007413	0	0
CDCP1	64866	broad.mit.edu	37	3	45127460	45127460	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:45127460C>T	ENST00000296129.1	-	9	2315	c.2181G>A	c.(2179-2181)aaG>aaA	p.K727K		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	727						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		AGTCATTGTCCTTTCGCCCTT	0.502000													32	198					0	0	0.004878	0	0
DSG4	147409	broad.mit.edu	37	18	28989758	28989758	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:28989758G>A	ENST00000308128.4	+	14	2259	c.2124G>A	c.(2122-2124)cgG>cgA	p.R708R	DSG4_ENST00000359747.4_Intron|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	708					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCCAGGATCGGATGGATTCCT	0.328000													14	22					0	0	0.004990	0	0
TMX1	81542	broad.mit.edu	37	14	51716210	51716210	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:51716210G>A	ENST00000457354.2	+	6	639	c.514G>A	c.(514-516)Gac>Aac	p.D172N		NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1	172					anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						CTTTATTGAAGACCTTGGATT	0.313000													30	162					0	0	0.003271	0	0
XIRP2	129446	broad.mit.edu	37	2	168115079	168115079	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:168115079G>A	ENST00000409728.1	+	11	2211	c.2122G>A	c.(2122-2124)Gaa>Aaa	p.E708K	XIRP2_ENST00000409756.2_Missense_Mutation_p.E675K|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.E675K|XIRP2_ENST00000409605.1_Missense_Mutation_p.E453K|XIRP2_ENST00000420519.1_Missense_Mutation_p.E708K|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGAGAAAAATGAAAAAACTAA	0.343000													5	17					0	0	0.000602	0	0
KIAA1462	57608	broad.mit.edu	37	10	30336586	30336586	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:30336586C>T	ENST00000375377.1	-	2	257	c.156G>A	c.(154-156)gcG>gcA	p.A52A		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	52										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTGCGAGGGCCGCAGGGCCAT	0.672000													8	26					0	0	0.008291	0	0
MORC1	27136	broad.mit.edu	37	3	108682324	108682324	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:108682324G>A	ENST00000232603.5	-	27	2818	c.2736C>T	c.(2734-2736)atC>atT	p.I912I	MORC1_ENST00000483760.1_Silent_p.I891I	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	912					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TATCCTCAGAGATTTTTCTTT	0.338000													12	42					0	0	0.001855	0	0
ADAM18	8749	broad.mit.edu	37	8	39495178	39495178	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:39495178G>A	ENST00000265707.5	+	9	828	c.783G>A	c.(781-783)cgG>cgA	p.R261R	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Silent_p.R237R	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	261	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CATGGAAACGGGACTATCTCA	0.363000													5	31					0	0	0.001168	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140762917	140762917	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140762917C>T	ENST00000518325.1	+	1	451	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGGGGTTCGGTTTCCGTT	0.473000													9	22					0	0	0.004482	0	0
CCDC150	284992	broad.mit.edu	37	2	197540974	197540974	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:197540974C>T	ENST00000389175.4	+	11	1380	c.1245C>T	c.(1243-1245)acC>acT	p.T415T	CCDC150_ENST00000423093.2_Silent_p.T83T|CCDC150_ENST00000472405.2_3'UTR|CCDC150_ENST00000272831.7_Silent_p.T83T	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	415										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						ATGAGAAAACCCAACTCCAGG	0.393000													39	114					0	0	0.010771	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171060	207171060	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:207171060G>A	ENST00000374423.3	+	5	2194	c.1808G>A	c.(1807-1809)aGa>aAa	p.R603K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	603							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GTCAAAGGAAGAAACCTGAAA	0.403000													9	37					0	0	0.004482	0	0
SYT10	341359	broad.mit.edu	37	12	33535420	33535420	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:33535420G>A	ENST00000228567.3	-	5	1530	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	SYT10_ENST00000535526.1_Nonsense_Mutation_p.R231*	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	412	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTTAATCTTCGACCTTCACAC	0.343000													22	18					0	0	0.003954	0	0
SLIT2	9353	broad.mit.edu	37	4	20598263	20598263	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:20598263G>A	ENST00000504154.1	+	32	3798	c.3546G>A	c.(3544-3546)acG>acA	p.T1182T	SLIT2_ENST00000273739.5_Silent_p.T1195T|SLIT2_ENST00000503823.1_Silent_p.T1174T|SLIT2_ENST00000503837.1_Silent_p.T1178T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1182	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGCCTCAGACGAACATAACAC	0.383000													11	11					0	0	0.008291	0	0
APOBEC3H	164668	broad.mit.edu	37	22	39497945	39497945	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:39497945C>A	ENST00000442487.3	+	4	568	c.441C>A	c.(439-441)aaC>aaA	p.N147K	APOBEC3H_ENST00000421988.2_Intron|APOBEC3H_ENST00000348946.4_Missense_Mutation_p.N147K|APOBEC3H_ENST00000401756.1_Missense_Mutation_p.N147K	NM_181773.3	NP_861438.2	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	147					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					GCTGGGAAAACTTTGTGGACC	0.527000													13	53					4.36969e-10	4.77531e-10	0.001855	1	0
IGHV3-20	28445	broad.mit.edu	37	14	106668031	106668031	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:106668031C>T	ENST00000390606.2	-	0	64																											GCCCAAACTCCATGGCGAGTC	0.507000													22	88					0	0	0.009535	0	0
LAMA1	284217	broad.mit.edu	37	18	6997746	6997746	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:6997746G>A	ENST00000389658.3	-	33	4894	c.4801C>T	c.(4801-4803)Ctc>Ttc	p.L1601F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1601	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTACCTGGAGATATTTAGTT	0.428000													10	46					0	0	0.010729	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559744	44559744	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:44559744C>T	ENST00000332567.4	-	1	2244	c.1892G>A	c.(1891-1893)gGa>gAa	p.G631E	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	631	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGGTTGTTTCCACGTGCAGA	0.522000													32	85					0	0	0.010818	0	0
NME8	51314	broad.mit.edu	37	7	37916527	37916527	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:37916527C>T	ENST00000199447.4	+	12	1284	c.912C>T	c.(910-912)ttC>ttT	p.F304F	NME8_ENST00000440017.1_Silent_p.F304F|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	304					cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										ATGCTTTCTTCCCCGATTTTA	0.358000													10	22					0	0	0.006214	0	0
OR52L1	338751	broad.mit.edu	37	11	6007702	6007702	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:6007702G>A	ENST00000332249.4	-	1	513	c.459C>T	c.(457-459)atC>atT	p.I153I		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGATGCAGGATTGTGGAAT	0.502000													16	29					0	0	0.004007	0	0
COPS2	9318	broad.mit.edu	37	15	49437168	49437168	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:49437168G>A	ENST00000388901.5	-	2	235	c.162C>T	c.(160-162)ttC>ttT	p.F54F	COPS2_ENST00000542928.1_Intron|COPS2_ENST00000299259.6_Silent_p.F54F	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	54					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		AAACCTTTTGGAAACTGCTTA	0.323000													10	40					0	0	0.010729	0	0
MARK1	4139	broad.mit.edu	37	1	220777408	220777408	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:220777408G>A	ENST00000402574.1	+	6	1021		c.e6-1		MARK1_ENST00000366917.4_Splice_Site|MARK1_ENST00000366918.4_Splice_Site	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1						intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TTCTGATTCAGGTGAAGTATT	0.323000													9	32					0	0	0.004482	0	0
CDHR4	389118	broad.mit.edu	37	3	49836294	49836294	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:49836294G>A	ENST00000343366.4	-	3	558	c.536C>T	c.(535-537)tCt>tTt	p.S179F	CDHR4_ENST00000487256.1_Silent_p.L154L|CDHR4_ENST00000412678.2_Silent_p.L154L			A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						GGGAGGAGCAGAGTGTACAGC	0.592000													5	14					0	0	0.000602	0	0
PTK6	5753	broad.mit.edu	37	20	62163970	62163970	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:62163970G>A	ENST00000217185.2	-	5	768	c.741C>T	c.(739-741)atC>atT	p.I247I	PTK6_ENST00000542869.1_Silent_p.I146I	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	247	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			ACAGCGCCAGGATGTGTTTGT	0.647000													22	40					0	0	0.002780	0	0
TNFRSF18	8784	broad.mit.edu	37	1	1140754	1140754	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:1140754G>A	ENST00000379268.2	-	2	425	c.306C>T	c.(304-306)tcC>tcT	p.S102S	TNFRSF18_ENST00000379265.5_Silent_p.S102S|TNFRSF18_ENST00000486728.1_Silent_p.S30S|TNFRSF18_ENST00000328596.6_Silent_p.S102S	NM_004195.2|NM_148902.1	NP_004186.1|NP_683700.1	Q9Y5U5	TNR18_HUMAN	tumor necrosis factor receptor superfamily, member 18	102					anti-apoptosis|apoptosis	extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACTTACCCTGGGACTGTACCC	0.652000													10	7					0	0	0.006214	0	0
MTMR3	8897	broad.mit.edu	37	22	30419456	30419456	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:30419456C>T	ENST00000333027.3	+	19	3653	c.3325C>T	c.(3325-3327)Cgt>Tgt	p.R1109C	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Intron|MTMR3_ENST00000323630.5_Intron|MTMR3_ENST00000401950.2_Intron|MTMR3_ENST00000406629.1_Missense_Mutation_p.R1109C	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	1142					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GGACACTGACCGTGTTGATCA	0.493000													24	43					0	0	0.004656	0	0
RIMBP3	85376	broad.mit.edu	37	22	20458093	20458093	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:20458093C>T	ENST00000426804.1	-	1	3693	c.3209G>A	c.(3208-3210)gGa>gAa	p.G1070E		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			GGACATAGTTCCCCAATACAC	0.662000													5	75					0	0	0.001984	0	0
KLHL38	340359	broad.mit.edu	37	8	124658100	124658100	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:124658100G>A	ENST00000325995.7	-	3	1648	c.1625C>T	c.(1624-1626)tCc>tTc	p.S542F	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	542										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GCAATCGAAGGAGGCGGAGTC	0.617000													20	62					0	0	0.008871	0	0
RBP1	5947	broad.mit.edu	37	3	139257667	139257667	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:139257667C>T	ENST00000483943.2	-	2	394	c.394G>A	c.(394-396)Gag>Aag	p.E132K	RBP1_ENST00000232219.2_Missense_Mutation_p.E132K|RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000492918.1_Missense_Mutation_p.E132K	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN	retinol binding protein 1, cellular	70						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Vitamin A(DB00162)	TCCTCAAACTCCTTCCCAACC	0.557000													29	58					0	0	0.006320	0	0
IMPG1	3617	broad.mit.edu	37	6	76751728	76751728	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:76751728G>A	ENST00000369950.3	-	2	372	c.183C>T	c.(181-183)ttC>ttT	p.F61F	IMPG1_ENST00000369963.3_Intron	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	61					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.F61F(1)|p.F61L(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTGCCAAATCGAATATTCGTC	0.368000													22	61					0	0	0.012319	0	0
TRAT1	50852	broad.mit.edu	37	3	108568024	108568024	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:108568024G>A	ENST00000295756.6	+	5	456	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	TRAT1_ENST00000426646.1_Missense_Mutation_p.E39K	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	76					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						ACCAATGGATGAAAATTGCTA	0.343000													9	28					0	0	0.004482	0	0
OR51T1	401665	broad.mit.edu	37	11	4903267	4903267	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:4903267G>A	ENST00000380378.1	+	1	219	c.219G>A	c.(217-219)atG>atA	p.M73I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.M46I	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAACAGTATGATCTTTCTTG	0.478000													24	95					0	0	0.003330	0	0
SLC22A12	116085	broad.mit.edu	37	11	64359241	64359241	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:64359241C>T	ENST00000377574.1	+	1	960	c.213C>T	c.(211-213)gcC>gcT	p.A71A	SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000336464.7_Silent_p.A71A|SLC22A12_ENST00000377572.1_Silent_p.A71A|SLC22A12_ENST00000377567.2_Silent_p.A71A	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	71					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GTCCTGAGGCCCTCCTGGCTA	0.682000													10	34					0	0	0.013537	0	0
ART1	417	broad.mit.edu	37	11	3681445	3681445	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:3681445C>T	ENST00000250693.1	+	3	797	c.696C>T	c.(694-696)taC>taT	p.Y232Y		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	232					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	TCAAGGGCTACTCCTTCTTCC	0.597000													9	43					0	0	0.004482	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161019038	161019038	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:161019038C>T	ENST00000368013.3	-	12	2093	c.1773G>A	c.(1771-1773)ctG>ctA	p.L591L	ARHGAP30_ENST00000368016.3_Silent_p.L591L|ARHGAP30_ENST00000368015.1_Silent_p.L414L	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	591			L -> V (in dbSNP:rs3813609).		regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CAGCGGAGTCCAGGGAACAGC	0.577000													46	73					0	0	0.014410	0	0
CLEC18B	497190	broad.mit.edu	37	16	74455130	74455130	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:74455130G>A	ENST00000339953.5	-	1	160	c.39C>T	c.(37-39)ctC>ctT	p.L13L		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	13						extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCACAGCCAGGAGATGCCCCC	0.682000													5	56					0	0	0.003080	0	0
FMO4	2329	broad.mit.edu	37	1	171310904	171310904	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:171310904C>T	ENST00000367749.3	+	10	1933	c.1603C>T	c.(1603-1605)Ctt>Ttt	p.L535F		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	535					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TAAATCTTCACTTTTCTTGAA	0.438000													12	20					0	0	0.013537	0	0
RASEF	158158	broad.mit.edu	37	9	85613319	85613319	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:85613319C>T	ENST00000376447.3	-	13	2026	c.1766G>A	c.(1765-1767)cGa>cAa	p.R589Q		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	589					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CAGAACTGTTCGTTCTCCATC	0.468000													29	105					0	0	0.010818	0	0
FLG2	388698	broad.mit.edu	37	1	152327908	152327908	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152327908T>A	ENST00000388718.5	-	3	2426	c.2354A>T	c.(2353-2355)cAa>cTa	p.Q785L	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	785	Ser-rich.						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)			AGACCCATGTTGGCCATAGCC	0.507000													78	209					0	0	0.014410	0	0
KALRN	8997	broad.mit.edu	37	3	124351433	124351433	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:124351433G>A	ENST00000360013.3	+	35	5470	c.5343G>A	c.(5341-5343)ggG>ggA	p.G1781G	KALRN_ENST00000291478.4_Silent_p.G84G|KALRN_ENST00000393496.1_Silent_p.G154G|KALRN_ENST00000428018.2_Silent_p.G84G	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1781					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTAACAGCGGGAAGGCAGATG	0.557000													19	44					0	0	0.010504	0	0
HTR4	3360	broad.mit.edu	37	5	147900484	147900484	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:147900484C>T	ENST00000362016.2	-	6	713		c.e6+1		HTR4_ENST00000521735.1_Intron|HTR4_ENST00000520514.1_Intron|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000377888.3_Intron|HTR4_ENST00000360693.3_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000314512.6_Intron|HTR4_ENST00000517929.1_Intron			Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled						G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	TTCTGACATACCGCATGAAAA	0.438000													13	34					0	0	0.004007	0	0
MYO1A	4640	broad.mit.edu	37	12	57423348	57423348	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:57423348C>T	ENST00000442789.2	-	27	3035	c.2748G>A	c.(2746-2748)ctG>ctA	p.L916L	MYO1A_ENST00000544473.1_Silent_p.L754L|MYO1A_ENST00000300119.3_Silent_p.L916L	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	916					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GGCCCTTGGTCAGGAGGAGAA	0.552000													33	18					0	0	0.012213	0	0
FAM65C	140876	broad.mit.edu	37	20	49218764	49218764	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:49218764C>T	ENST00000327979.2	-	13	1903	c.1492G>A	c.(1492-1494)Gag>Aag	p.E498K	FAM65C_ENST00000535356.1_Missense_Mutation_p.E502K|FAM65C_ENST00000045083.2_Missense_Mutation_p.E498K			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	498										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCCCTTCCTCGTGGCCGTTC	0.682000													7	19					0	0	0.004482	0	0
BEGAIN	57596	broad.mit.edu	37	14	101005161	101005161	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:101005161C>T	ENST00000556751.1	-	5	4139	c.735G>A	c.(733-735)gaG>gaA	p.E245E	BEGAIN_ENST00000355173.2_Silent_p.E309E|BEGAIN_ENST00000443071.2_Silent_p.E309E			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	309						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				CGTGCTCCTTCTCCTCCGACG	0.682000													10	17					0	0	0.010729	0	0
TTN	7273	broad.mit.edu	37	2	179612236	179612236	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179612236G>A	ENST00000360870.5	-	46	15113	c.14891C>T	c.(14890-14892)tCt>tTt	p.S4964F	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1081	Ig-like 30.						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)			AGACTCAGGAGAAAGTGGACG	0.393000													23	49					0	0	0.014323	0	0
CDH11	1009	broad.mit.edu	37	16	65022165	65022165	+	Silent	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:65022165T>C	ENST00000394156.3	-	7	1347	c.894A>G	c.(892-894)ggA>ggG	p.G298G	CDH11_ENST00000566827.1_Silent_p.G172G|CDH11_ENST00000268603.4_Silent_p.G298G			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	298	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AGCCATTTTCTCCAATGTCTG	0.443000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			32	65					0	0	0.008361	0	0
MYO5B	4645	broad.mit.edu	37	18	47488650	47488650	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:47488650C>T	ENST00000285039.7	-	12	1830	c.1531G>A	c.(1531-1533)Gat>Aat	p.D511N		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	511	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CATTCTTCATCCAACAGGTCC	0.388000													31	36					0	0	0.013726	0	0
PIANP	196500	broad.mit.edu	37	12	6806555	6806555	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:6806555G>A	ENST00000534837.1	-	3	650	c.421C>T	c.(421-423)Cca>Tca	p.P141S	PIANP_ENST00000320591.5_Missense_Mutation_p.P141S|PIANP_ENST00000540656.1_Missense_Mutation_p.P141S	NM_001244014.1	NP_001230943.1			PILR alpha associated neural protein																		TTGGGGTGTGGGGTTGCGAGC	0.622000													6	40					0	0	0.003080	0	0
SND1	27044	broad.mit.edu	37	7	127714631	127714631	+	Silent	SNP	C	C	T	rs138799870	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:127714631C>T	ENST00000354725.3	+	17	2051	c.1857C>T	c.(1855-1857)tcC>tcT	p.S619S		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	619	TNase-like 4.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCAACCTGTCCGTCCTGCTGG	0.617000													11	20					0	0	0.010729	0	0
UNC5A	90249	broad.mit.edu	37	5	176306320	176306320	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:176306320T>C	ENST00000329542.4	+	14	2468	c.2194T>C	c.(2194-2196)Ttt>Ctt	p.F732L	UNC5A_ENST00000261961.3_Missense_Mutation_p.F692L	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	732					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACACAAGGTTTGCTGAGCT	0.622000													28	70					0	0	0.006320	0	0
DRD1	1812	broad.mit.edu	37	5	174869920	174869920	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:174869920G>A	ENST00000393752.2	-	2	1175	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	61					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	AGATGACAAAGAAGTTGGTCA	0.582000													5	22					0	0	0.000602	0	0
DCLK3	85443	broad.mit.edu	37	3	36759619	36759619	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:36759619G>A	ENST00000416516.2	-	4	2125	c.1635C>T	c.(1633-1635)atC>atT	p.I545I	DCLK3_ENST00000498047.1_5'UTR	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	545	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.I545I(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CACACAGCAGGATATAGAGGA	0.572000													48	89					0	0	0.014410	0	0
AK9	221264	broad.mit.edu	37	6	109996915	109996915	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:109996915A>G	ENST00000424296.2	-	2	110	c.34T>C	c.(34-36)Ttt>Ctt	p.F12L	AK9_ENST00000285397.5_Missense_Mutation_p.F12L|AK9_ENST00000368948.2_Missense_Mutation_p.F12L|AK9_ENST00000341338.6_5'UTR	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		ATATCTGCAAAAGGATACTCT	0.328000													8	45					0	0	0.003080	0	0
CDH18	1016	broad.mit.edu	37	5	19483609	19483609	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:19483609C>T	ENST00000507958.1	-	14	2673	c.1683G>A	c.(1681-1683)caG>caA	p.Q561Q	CDH18_ENST00000382275.1_Silent_p.Q561Q|CDH18_ENST00000274170.4_Silent_p.Q561Q|CDH18_ENST00000506372.1_Intron|CDH18_ENST00000502796.1_Intron			Q13634	CAD18_HUMAN	cadherin 18, type 2	561	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AATACACATCCTGAACAGTTC	0.463000													3	18					0	0	0.004672	0	0
NCAM2	4685	broad.mit.edu	37	21	22804491	22804491	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:22804491C>T	ENST00000400546.1	+	12	1793	c.1544C>T	c.(1543-1545)tCc>tTc	p.S515F	NCAM2_ENST00000284894.7_Missense_Mutation_p.S373F	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	515	Fibronectin type-III 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GCCAAGGTTTCCTTCAACAAA	0.453000													19	17					0	0	0.014323	0	0
ATP2A2	488	broad.mit.edu	37	12	110782763	110782763	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:110782763C>T	ENST00000395494.2	+	16	3076	c.2513C>T	c.(2512-2514)tCc>tTc	p.S838F	ATP2A2_ENST00000308664.6_Missense_Mutation_p.S865F|ATP2A2_ENST00000539276.2_Missense_Mutation_p.S865F			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	865			A -> P (in DD; severe form; petit mal epilepsy).		ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CCAAGAGTGTCCTTCTACCAG	0.502000													46	22					0	0	0.014410	0	0
LAMA3	3909	broad.mit.edu	37	18	21508698	21508698	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:21508698C>A	ENST00000313654.9	+	64	8646	c.8405C>A	c.(8404-8406)cCc>cAc	p.P2802H	LAMA3_ENST00000399516.3_Missense_Mutation_p.P2746H|LAMA3_ENST00000269217.6_Missense_Mutation_p.P1193H|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.P1137H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2802	Laminin G-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCTTTCAACCCAGTGGCATA	0.408000													12	43					0.00010058	0.000109005	0.013537	1	0
CYP4B1	1580	broad.mit.edu	37	1	47279266	47279266	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:47279266G>A	ENST00000271153.4	+	5	644	c.608G>A	c.(607-609)gGc>gAc	p.G203D	CYP4B1_ENST00000452782.2_Missense_Mutation_p.G40D|CYP4B1_ENST00000371919.4_Missense_Mutation_p.G188D|CYP4B1_ENST00000371923.4_Missense_Mutation_p.G203D			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	203					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)					GGAGACACCGGCCTGGGCCAC	0.582000													10	30					0	0	0.010729	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735094	55735094	+	Silent	SNP	G	G	A	rs139711848		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:55735094G>A	ENST00000312345.2	-	1	896	c.846C>T	c.(844-846)acC>acT	p.T282T		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TGTTCCTCAGGGTATATATAA	0.328000													20	22					0	0	0.008871	0	0
ZNF208	7757	broad.mit.edu	37	19	22157127	22157127	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:22157127C>T	ENST00000397126.4	-	4	857	c.709G>A	c.(709-711)Gcc>Acc	p.A237T	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTACTAAAGGCTTTGCCACAT	0.383000													15	26					0	0	0.003163	0	0
DEPDC5	9681	broad.mit.edu	37	22	32215147	32215147	+	Silent	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:32215147T>A	ENST00000400246.1	+	22	1948	c.1806T>A	c.(1804-1806)gcT>gcA	p.A602A	DEPDC5_ENST00000382111.2_Silent_p.A602A|DEPDC5_ENST00000266091.3_Silent_p.A602A|DEPDC5_ENST00000536766.1_Silent_p.A574A|DEPDC5_ENST00000382105.2_Silent_p.A602A|DEPDC5_ENST00000535622.1_Silent_p.A602A|DEPDC5_ENST00000400249.2_Silent_p.A602A|DEPDC5_ENST00000382112.3_Silent_p.A602A|DEPDC5_ENST00000400248.1_Silent_p.A602A			O75140	DEPD5_HUMAN	DEP domain containing 5	602					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						ACCCCTTCGCTCCCTCTCGGA	0.547000													37	38					0	0	0.007835	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20571850	20571850	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:20571850G>A	ENST00000202677.6	-	17	2454	c.2312C>T	c.(2311-2313)cCc>cTc	p.P771L		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	771					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CAGCGGCTCGGGGATGTCGGA	0.502000													13	60					0	0	0.007413	0	0
TCTN3	26123	broad.mit.edu	37	10	97423933	97423933	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:97423933G>A	ENST00000265993.8	-	14	1958	c.1715C>T	c.(1714-1716)cCc>cTc	p.P572L	TCTN3_ENST00000430368.1_Missense_Mutation_p.P424L|TCTN3_ENST00000371217.4_Missense_Mutation_p.P585L	NM_015631.5	NP_056446.4	Q6NUS6	TECT3_HUMAN	tectonic family member 3	572					apoptosis	integral to membrane				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		CACTTTGAAGGGAAAGAAGTC	0.468000													52	153					0	0	0.014410	0	0
HRNR	388697	broad.mit.edu	37	1	152187579	152187579	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152187579C>T	ENST00000368801.2	-	3	6601	c.6526G>A	c.(6526-6528)Ggg>Agg	p.G2176R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2176					keratinization		calcium ion binding|protein binding	p.G2176W(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCAGACCCTTGTCGGCCG	0.632000													18	418					0	0	0.008361	0	0
WDR3	10885	broad.mit.edu	37	1	118497969	118497969	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:118497969G>A	ENST00000349139.4	+	24	2488	c.2441G>A	c.(2440-2442)gGg>gAg	p.G814E	SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	814						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		ATTTTTAAAGGGATCAAGTCG	0.333000													9	34					0	0	0.008291	0	0
IGSF9	57549	broad.mit.edu	37	1	159898389	159898389	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:159898389G>A	ENST00000368094.1	-	19	2986	c.2789C>T	c.(2788-2790)cCc>cTc	p.P930L	IGSF9_ENST00000361509.3_Missense_Mutation_p.P914L|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	930	Pro-rich.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TCGGAAGAAGGGCAGGCTCAG	0.647000													4	16					0	0	0.009096	0	0
NR3C1	2908	broad.mit.edu	37	5	142779718	142779718	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:142779718C>T	ENST00000343796.2	-	2	1680	c.687G>A	c.(685-687)gcG>gcA	p.A229A	NR3C1_ENST00000394466.2_Silent_p.A229A|NR3C1_ENST00000394464.2_Silent_p.A229A|NR3C1_ENST00000504572.1_Silent_p.A229A|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000415690.2_Silent_p.A229A|NR3C1_ENST00000424646.2_Silent_p.A229A|NR3C1_ENST00000231509.3_Silent_p.A229A|NR3C1_ENST00000503201.1_Silent_p.A229A	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	229	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	CGTCTTCTCCCGCCAGAGGAG	0.438000													15	47					0	0	0.002450	0	0
ABCA12	26154	broad.mit.edu	37	2	215819948	215819948	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:215819948G>A	ENST00000272895.7	-	43	6590	c.6371C>T	c.(6370-6372)tCc>tTc	p.S2124F	ABCA12_ENST00000389661.4_Missense_Mutation_p.S1806F|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2124					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.S2124F(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTTTCCTTGGAAAGAAAGTA	0.368000													9	24					0	0	0.004482	0	0
OR8I2	120586	broad.mit.edu	37	11	55860916	55860916	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:55860916C>T	ENST00000302124.2	+	1	164	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	OR8I2_ENST00000560768.1_Silent_p.L45L			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AAACCTGGGACTGATCACGTT	0.373000													43	89					0	0	0.014410	0	0
OR13C4	138804	broad.mit.edu	37	9	107288831	107288831	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:107288831G>A	ENST00000277216.3	-	1	659	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TGTAGAGGATGAACATATAGG	0.408000													27	47					0	0	0.005443	0	0
PDCD11	22984	broad.mit.edu	37	10	105162877	105162877	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:105162877C>T	ENST00000369797.3	+	4	331	c.237C>T	c.(235-237)tcC>tcT	p.S79S		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	79					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TCTTCTAGTCCCTGTGTGAGG	0.443000													34	91					0	0	0.003755	0	0
MCTP2	55784	broad.mit.edu	37	15	94927293	94927293	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:94927293G>A	ENST00000357742.4	+	12	1625	c.1625G>A	c.(1624-1626)cGa>cAa	p.R542Q	MCTP2_ENST00000451018.3_Missense_Mutation_p.R542Q|MCTP2_ENST00000331706.4_Missense_Mutation_p.R130Q|MCTP2_ENST00000557742.1_Missense_Mutation_p.R130Q	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	542	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GGCAATGACCGACTTCAGACG	0.433000													5	13					0	0	0.001984	0	0
OTX2	5015	broad.mit.edu	37	14	57268471	57268471	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:57268471C>T	ENST00000339475.5	-	5	1152	c.876G>A	c.(874-876)tgG>tgA	p.W292*	OTX2_ENST00000555006.1_Nonsense_Mutation_p.W284*|OTX2_ENST00000408990.3_Nonsense_Mutation_p.W284*	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	284					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					CCTGGAATTTCCACGAGGATG	0.408000													5	51					0	0	0.001168	0	0
IRS2	8660	broad.mit.edu	37	13	110436665	110436665	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:110436665G>A	ENST00000375856.3	-	1	2250	c.1736C>T	c.(1735-1737)aCc>aTc	p.T579I		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	579					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GGCTGGCGTGGTCAGGGAGTA	0.731000													13	9					0	0	0.001855	0	0
ITSN2	50618	broad.mit.edu	37	2	24522854	24522854	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:24522854T>A	ENST00000355123.4	-	12	1711	c.1268A>T	c.(1267-1269)gAa>gTa	p.E423V	ITSN2_ENST00000406921.3_Missense_Mutation_p.E423V|ITSN2_ENST00000361999.3_Missense_Mutation_p.E423V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	423					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAAGCGTTTTTCTAATTCAAG	0.383000													13	78					0	0	0.001855	0	0
KIAA1407	57577	broad.mit.edu	37	3	113772444	113772444	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:113772444C>T	ENST00000295878.3	-	2	275	c.129_splice	c.e2+1	p.K43_splice	KIAA1407_ENST00000545063.1_Intron|KIAA1407_ENST00000480588.1_5'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	43										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ATATCCTTACCTTTATCCAGT	0.323000													3	17					0	0	0.009096	0	0
SVEP1	79987	broad.mit.edu	37	9	113189870	113189870	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:113189870C>T	ENST00000401783.2	-	36	6312		c.e36+1		SVEP1_ENST00000297826.5_Splice_Site|SVEP1_ENST00000374469.1_Splice_Site	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1						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						GCCCTACTCACCCTTCTTTGC	0.483000											OREG0019389	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	71					0	0	0.004007	0	0
TTLL8	164714	broad.mit.edu	37	22	50483717	50483717	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:50483717C>T	ENST00000266182.6	-	6	609	c.610G>A	c.(610-612)Gag>Aag	p.E204K	TTLL8_ENST00000440475.1_Missense_Mutation_p.E204K					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CTCCCGGCCTCCTCCCTCTGG	0.697000													6	13					0	0	0.001984	0	0
ELFN2	114794	broad.mit.edu	37	22	37770345	37770345	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:37770345G>A	ENST00000402918.1	-	3	2015	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	ELFN2_ENST00000349653.3_Silent_p.I410I|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	410						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CTCCCAGCACGATAACCATGC	0.612000													15	60					0	0	0.006122	0	0
NME8	51314	broad.mit.edu	37	7	37889893	37889893	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:37889893C>T	ENST00000199447.4	+	3	397	c.25C>T	c.(25-27)Cag>Tag	p.Q9*	NME8_ENST00000440017.1_Nonsense_Mutation_p.Q9*|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	9	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										ACGAGAAGTCCAGTTACAGGT	0.333000													59	90					0	0	0.014410	0	0
PLG	5340	broad.mit.edu	37	6	161143527	161143527	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:161143527G>A	ENST00000308192.9	+	10	1247	c.1184G>A	c.(1183-1185)gGa>gAa	p.G395E		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	395	Kringle 4.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACCACCACAGGAAAGAAGTGT	0.493000													17	32					0	0	0.006122	0	0
TBXAS1	6916	broad.mit.edu	37	7	139715636	139715636	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:139715636G>A	ENST00000263552.6	+	15	1881	c.1343G>A	c.(1342-1344)aGc>aAc	p.S448N	TBXAS1_ENST00000458722.1_Missense_Mutation_p.S493N|TBXAS1_ENST00000436047.2_Missense_Mutation_p.S448N|TBXAS1_ENST00000411653.1_Missense_Mutation_p.S447N|TBXAS1_ENST00000336425.5_Missense_Mutation_p.S447N|TBXAS1_ENST00000425687.1_Missense_Mutation_p.S380N|TBXAS1_ENST00000448866.1_Missense_Mutation_p.S447N|TBXAS1_ENST00000414508.2_Missense_Mutation_p.S448N|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000416849.2_Missense_Mutation_p.S494N	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	447					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CACTGGCCAAGCCCGGAGACC	0.592000													17	38					0	0	0.010504	0	0
ZNF70	7621	broad.mit.edu	37	22	24086478	24086478	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:24086478G>A	ENST00000341976.3	-	2	1310	c.850C>T	c.(850-852)Ctc>Ttc	p.L284F		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	284						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L284V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TTCCCACAGAGATCGCACTCG	0.517000													15	43					0	0	0.004007	0	0
CASR	846	broad.mit.edu	37	3	121981057	121981057	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:121981057G>A	ENST00000498619.1	+	4	1613	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q	CASR_ENST00000296154.5_Missense_Mutation_p.R392Q|CASR_ENST00000490131.1_Missense_Mutation_p.R392Q	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	392					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ACAGCCTTCCGACCCCTCTGT	0.493000													18	22					0	0	0.007413	0	0
GDAP1L1	78997	broad.mit.edu	37	20	42891969	42891969	+	Splice_Site	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:42891969T>C	ENST00000342560.5	+	4	733		c.e4+2		GDAP1L1_ENST00000537864.1_Splice_Site	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1											endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AAGCTCATGGTGAGTACCTCC	0.498000													31	65					0	0	0.008361	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189923	58189923	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:58189923C>T	ENST00000318203.5	+	5	1649	c.952C>T	c.(952-954)Ccc>Tcc	p.P318S		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	318					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGAAGAATGCCCCAAGGTCTT	0.448000													17	45					0	0	0.007413	0	0
NTRK1	4914	broad.mit.edu	37	1	156843534	156843534	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:156843534C>T	ENST00000368196.3	+	8	1080	c.960C>T	c.(958-960)tcC>tcT	p.S320S	NTRK1_ENST00000358660.3_Silent_p.S320S|NTRK1_ENST00000524377.1_Silent_p.S320S|NTRK1_ENST00000392302.2_Silent_p.S290S	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	320	Ig-like C2-type 2.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	TCAATGGCTCCGTGCTCAATG	0.632000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			7	13					0	0	0.001984	0	0
SCN7A	6332	broad.mit.edu	37	2	167319026	167319026	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:167319026C>T	ENST00000409855.1	-	9	1082	c.956G>A	c.(955-957)gGa>gAa	p.G319E		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	319					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						ACACACATATCCTTCAGGACA	0.378000													5	15					0	0	0.004482	0	0
CDH5	1003	broad.mit.edu	37	16	66423412	66423412	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:66423412C>T	ENST00000341529.3	+	5	916	c.768C>T	c.(766-768)ccC>ccT	p.P256P	CDH5_ENST00000563425.2_Silent_p.P256P	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	256	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		ACAACTTCCCCTTCTTCACCC	0.607000													12	35					0	0	0.002450	0	0
CACNA1E	777	broad.mit.edu	37	1	181705431	181705431	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:181705431G>A	ENST00000526775.1	+	21	3391	c.3226G>A	c.(3226-3228)Gaa>Aaa	p.E1076K	CACNA1E_ENST00000367567.4_Missense_Mutation_p.E702K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1095K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1027K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1076K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1046K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E1095K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1095					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						GACGGATGGGGAAGCCAGTCC	0.483000													3	9					0	0	0.004672	0	0
FUT8	2530	broad.mit.edu	37	14	66208857	66208857	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:66208857C>T	ENST00000360689.5	+	11	3184	c.1457C>T	c.(1456-1458)gCc>gTc	p.A486V	FUT8_ENST00000394585.1_Missense_Mutation_p.A486V|FUT8_ENST00000358307.2_Missense_Mutation_p.A357V|FUT8_ENST00000557164.1_Missense_Mutation_p.A323V|FUT8_ENST00000417683.1_Missense_Mutation_p.A80V|FUT8_ENST00000394586.2_Missense_Mutation_p.A486V	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	486					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CATCCTGATGCCTCTGCAAAC	0.398000													9	78					0	0	0.006214	0	0
TDRD6	221400	broad.mit.edu	37	6	46660326	46660326	+	Silent	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:46660326T>A	ENST00000544460.1	+	1	4715	c.4461T>A	c.(4459-4461)ctT>ctA	p.L1487L	TDRD6_ENST00000316081.6_Silent_p.L1487L	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1487					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AAGTAGAACTTTCTACCCAAG	0.343000													25	44					0	0	0.003954	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110450259	110450259	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:110450259C>T	ENST00000260283.4	-	16	3695	c.3411G>A	c.(3409-3411)atG>atA	p.M1137I	ARHGAP20_ENST00000357139.3_Missense_Mutation_p.M1111I|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.M1101I|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.M1111I|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.M1114I|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.M680I|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.M1101I	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1137					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CATGTGACTTCATGCACAGCT	0.522000													10	55					0	0	0.008291	0	0
VWC2L	402117	broad.mit.edu	37	2	215278933	215278933	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:215278933C>T	ENST00000312504.5	+	2	818	c.16C>T	c.(16-18)Cat>Tat	p.H6Y	AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000427124.1_Missense_Mutation_p.H6Y	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	6						extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TCTTCATATTCATGAAGCTTG	0.458000													26	42					0	0	0.010818	0	0
CEP135	9662	broad.mit.edu	37	4	56837483	56837483	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:56837483C>T	ENST00000257287.4	+	10	1282	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	386					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GTGATGAACTCCTTGTAAAAT	0.303000													5	15					0	0	0.001984	0	0
CLDN18	51208	broad.mit.edu	37	3	137749972	137749972	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:137749972G>A	ENST00000183605.5	+	5	1001	c.775G>A	c.(775-777)Gac>Aac	p.D259N	CLDN18_ENST00000343735.4_Missense_Mutation_p.D259N	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	259					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						TTCCAAGCACGACTATGTGTA	0.493000													13	48					0	0	0.002450	0	0
SLC26A3	1811	broad.mit.edu	37	7	107430122	107430122	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:107430122C>T	ENST00000340010.5	-	6	766	c.582G>A	c.(580-582)ggG>ggA	p.G194G	SLC26A3_ENST00000422236.2_Silent_p.G159G	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	194					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TCCGCAGAATCCCAAAAGCCA	0.418000													4	13					0	0	0.000602	0	0
CELF5	60680	broad.mit.edu	37	19	3293399	3293399	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:3293399C>T	ENST00000292672.2	+	12	1450	c.1413C>T	c.(1411-1413)ctC>ctT	p.L471L	CELF5_ENST00000541430.2_3'UTR	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	471	RRM 3.				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						TGAAGAGGCTCAAAGTCCAGC	0.652000													12	37					0	0	0.010729	0	0
ZBED2	79413	broad.mit.edu	37	3	111313022	111313022	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:111313022C>T	ENST00000317012.4	-	2	1035	c.27G>A	c.(25-27)gaG>gaA	p.E9E	CD96_ENST00000352690.4_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000438817.2_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	9							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						TTGTTCCCTCCTCTTCCTCGT	0.453000													15	39					0	0	0.004990	0	0
C4BPA	722	broad.mit.edu	37	1	207300216	207300216	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:207300216C>T	ENST00000367070.3	+	7	1059	c.865C>T	c.(865-867)Cct>Tct	p.P289S		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	289	Sushi 4.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CAAATGGAATCCTTCTCCTCC	0.403000													13	42					0	0	0.004007	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709249	128709249	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:128709249G>A	ENST00000392665.2	-	2	1034	c.890C>T	c.(889-891)cCa>cTa	p.P297L	KCNJ1_ENST00000440599.2_Missense_Mutation_p.P297L|KCNJ1_ENST00000392666.1_Missense_Mutation_p.P297L|KCNJ1_ENST00000392664.2_Missense_Mutation_p.P316L|KCNJ1_ENST00000324036.3_Missense_Mutation_p.P297L	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	316					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	CACCTCCTCTGGGACATAGGA	0.498000													11	11					0	0	0.008291	0	0
SLC9A3	6550	broad.mit.edu	37	5	482666	482666	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:482666G>A	ENST00000264938.3	-	7	1362	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F	SLC9A3_ENST00000514375.1_Silent_p.F451F	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	451						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GCCTCACCTGGAAGATGACGG	0.622000													17	44					0	0	0.012319	0	0
PRRG4	79056	broad.mit.edu	37	11	32874863	32874863	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:32874863G>A	ENST00000257836.3	+	6	724	c.471G>A	c.(469-471)agG>agA	p.R157R		NM_024081.5	NP_076986.1	Q9BZD6	TMG4_HUMAN	proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)	157						extracellular region|Golgi apparatus|integral to membrane	calcium ion binding			large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7	Breast(20;0.206)					TCTATGAAAGGGGGAGGCACA	0.458000													4	86					0	0	0.000602	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33012862	33012862	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:33012862G>A	ENST00000357505.6	-	8	2221	c.2117C>T	c.(2116-2118)cCt>cTt	p.P706L	N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.P624L|N4BP2L2_ENST00000504114.1_Missense_Mutation_p.P706L|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.P721L	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		ATAGTCATCAGGCAACAAGGA	0.403000													6	6					0	0	0.003080	0	0
STK19	8859	broad.mit.edu	37	6	31940123	31940123	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:31940123G>A	ENST00000375331.2	+	2	431	c.265G>A	c.(265-267)Gac>Aac	p.D89N	STK19_ENST00000375333.2_Missense_Mutation_p.D89N	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	89			D -> N (in a metastatic melanoma sample; somatic mutation).			nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.D89N(4)		skin(5)|upper_aerodigestive_tract(2)	7						TGCGCCGGAAGACCCTATTTT	0.582000													32	81					0	0	0.003271	0	0
NR6A1	2649	broad.mit.edu	37	9	127316765	127316765	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:127316765G>A	ENST00000487099.2	-	3	384	c.227C>T	c.(226-228)tCc>tTc	p.S76F	NR6A1_ENST00000416460.2_Missense_Mutation_p.S72F|NR6A1_ENST00000373584.3_Missense_Mutation_p.S72F|NR6A1_ENST00000344523.4_Missense_Mutation_p.S76F	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	76					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						GCCCTCACAGGAGATGATCCC	0.493000													26	52					0	0	0.008361	0	0
MSR1	4481	broad.mit.edu	37	8	16007784	16007784	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:16007784C>T	ENST00000350896.3	-	7	1132	c.935G>A	c.(934-936)gGc>gAc	p.G312D	MSR1_ENST00000262101.5_Missense_Mutation_p.G312D|MSR1_ENST00000445506.2_Missense_Mutation_p.G330D|MSR1_ENST00000536385.1_Missense_Mutation_p.G86D|MSR1_ENST00000355282.2_Missense_Mutation_p.G312D|MSR1_ENST00000381998.4_Missense_Mutation_p.G312D	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	312	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TCCAGGAAAGCCAATTGCTCC	0.378000													11	35					0	0	0.003163	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558648	113558648	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:113558648G>A	ENST00000284601.3	-	1	472	c.404C>T	c.(403-405)tCt>tTt	p.S135F		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	135	CBM21.				glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCCAAGAAGAGACTCAGTTGA	0.363000													15	48					0	0	0.004990	0	0
GNAS	2778	broad.mit.edu	37	20	57429085	57429085	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:57429085C>T	ENST00000306120.3	+	1	575	c.575C>T	c.(574-576)tCg>tTg	p.S192L	GNAS_ENST00000371098.2_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371099.2_Silent_p.F255F|GNAS_ENST00000371100.4_Silent_p.F255F|GNAS_ENST00000371102.4_Silent_p.F255F|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCAGCCAGTTCGCGGCAGTCG	0.662000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			8	12					0	0	0.004482	0	0
NRP1	8829	broad.mit.edu	37	10	33502446	33502446	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:33502446G>A	ENST00000265371.4	-	10	2007	c.1482C>T	c.(1480-1482)atC>atT	p.I494I	NRP1_ENST00000374823.5_Silent_p.I494I|NRP1_ENST00000374822.4_Silent_p.I494I|NRP1_ENST00000395995.1_Silent_p.I494I|NRP1_ENST00000466932.1_5'UTR|NRP1_ENST00000374867.2_Silent_p.I494I|NRP1_ENST00000374816.3_Silent_p.I494I|NRP1_ENST00000374821.5_Silent_p.I494I|RP11-342D11.2_ENST00000451530.1_RNA			O14786	NRP1_HUMAN	neuropilin 1	494	F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TGCCCCTCACGATCTTCTCCT	0.547000													16	54					0	0	0.004990	0	0
EPPK1	83481	broad.mit.edu	37	8	144940440	144940440	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:144940440C>T	ENST00000525985.1	-	2	7053	c.6982G>A	c.(6982-6984)Gac>Aac	p.D2328N				P58107	EPIPL_HUMAN	epiplakin 1	2328						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACGATGAGGTCCTTCTGCATG	0.692000													14	248					0	0	0.012319	0	0
NEFH	4744	broad.mit.edu	37	22	29886024	29886024	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:29886024G>A	ENST00000310624.6	+	4	2428	c.2395G>A	c.(2395-2397)Gcg>Acg	p.A799T		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	805	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCCAGAGAAGGCGAAATCTCC	0.557000													15	16					0	0	0.002450	0	0
FAM131B	9715	broad.mit.edu	37	7	143053835	143053835	+	Silent	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:143053835T>A	ENST00000409408.1	-	6	2515	c.807A>T	c.(805-807)gcA>gcT	p.A269A	FAM131B_ENST00000409222.3_Silent_p.A269A|FAM131B_ENST00000409346.1_Silent_p.A269A|FAM131B_ENST00000409578.1_Silent_p.A285A|FAM131B_ENST00000443739.2_Silent_p.A297A			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	269										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CAGGGCCCCTTGCCAGGTCCA	0.632000													20	106					0	0	0.010504	0	0
FCGBP	8857	broad.mit.edu	37	19	40411743	40411743	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:40411743C>T	ENST00000221347.6	-	7	3892	c.3885G>A	c.(3883-3885)caG>caA	p.Q1295Q		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1295	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCACGTTCTCCTGCAGGACGG	0.637000													22	42					0	0	0.004878	0	0
CD1E	913	broad.mit.edu	37	1	158325885	158325885	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158325885C>T	ENST00000444681.2	+	3	890	c.597C>T	c.(595-597)atC>atT	p.I199I	CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368166.3_Silent_p.I109I|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368165.3_Silent_p.I208I|CD1E_ENST00000434258.1_Silent_p.I296I|CD1E_ENST00000368156.1_Silent_p.I208I|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368160.3_Silent_p.I298I|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368167.3_Silent_p.I298I|CD1E_ENST00000452291.2_Silent_p.I109I	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	298	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					ATGATCTAATCATCCATTGGG	0.547000													11	53					0	0	0.010729	0	0
DPPA4	55211	broad.mit.edu	37	3	109049513	109049513	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:109049513C>T	ENST00000335658.6	-	5	591	c.537G>A	c.(535-537)ctG>ctA	p.L179L	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	179						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TGGAATTTTCCAGGGCAGGCG	0.527000													17	58					0	0	0.007413	0	0
POMK	84197	broad.mit.edu	37	8	42977352	42977352	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:42977352C>T	ENST00000331373.5	+	5	640	c.385C>T	c.(385-387)Ctc>Ttc	p.L129F		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN		129	Protein kinase.					integral to membrane	ATP binding|protein kinase activity										GCTGAAATCTCTCCAAGGCAC	0.473000													22	61					0	0	0.003954	0	0
FRAS1	80144	broad.mit.edu	37	4	79440572	79440572	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:79440572T>A	ENST00000264895.6	+	67	10917	c.10477T>A	c.(10477-10479)Tcc>Acc	p.S3493T		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3488					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGGCTGGGCCTCCTTGGAGCA	0.532000													72	67					0	0	0.014410	0	0
CCDC147	159686	broad.mit.edu	37	10	106209871	106209871	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:106209871G>A	ENST00000369704.3	+	17	2553	c.2419G>A	c.(2419-2421)Gaa>Aaa	p.E807K		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	807										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ACAGAGCAAAGAATATAAATA	0.313000													16	41					0	0	0.004990	0	0
RAI1	10743	broad.mit.edu	37	17	17700534	17700534	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:17700534C>T	ENST00000353383.1	+	3	4741	c.4272C>T	c.(4270-4272)ttC>ttT	p.F1424F	RAI1_ENST00000261641.6_Silent_p.F1424F	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1424						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CTGACTGTTTCAAAACCGAGG	0.557000													29	35					0	0	0.003271	0	0
DSG4	147409	broad.mit.edu	37	18	28993139	28993139	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:28993139C>T	ENST00000359747.4	+	15	2790	c.2761C>T	c.(2761-2763)Cat>Tat	p.H921Y	DSG4_ENST00000308128.4_Missense_Mutation_p.H902Y|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	902					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACCCGTGGTCCATGGGGATAT	0.428000													29	60					0	0	0.008361	0	0
TMEM225	338661	broad.mit.edu	37	11	123753976	123753976	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:123753976C>T	ENST00000375026.2	-	4	763	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	183						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TTCTCAGATTCCTTACATTCG	0.423000													5	25					0	0	0.000602	0	0
SDK1	221935	broad.mit.edu	37	7	4188998	4188998	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:4188998C>T	ENST00000404826.2	+	30	4667	c.4528C>T	c.(4528-4530)Cgg>Tgg	p.R1510W	SDK1_ENST00000389531.3_Missense_Mutation_p.R1510W	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1510	Fibronectin type-III 9.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTCCCCCATCCGGTACTTCAC	0.677000													5	10					0	0	0.000602	0	0
MARCO	8685	broad.mit.edu	37	2	119749407	119749407	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:119749407G>A	ENST00000541757.1	+	15	1309	c.929G>A	c.(928-930)gGa>gAa	p.G310E	MARCO_ENST00000327097.4_Missense_Mutation_p.G388E			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	388	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGTCCCAAGGGAGCCCCTGGA	0.587000													6	9					0	0	0.001168	0	0
TRPC3	7222	broad.mit.edu	37	4	122854062	122854062	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:122854062G>A	ENST00000264811.5	-	1	550	c.132C>T	c.(130-132)ctC>ctT	p.L44L	TRPC3_ENST00000513531.1_Silent_p.L44L|TRPC3_ENST00000379645.3_Silent_p.L117L	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	32					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						CGGCGGCGTCGAGGAAGCGCT	0.657000													15	21					0	0	0.004007	0	0
USP22	23326	broad.mit.edu	37	17	20921375	20921375	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:20921375G>A	ENST00000261497.4	-	5	773	c.570C>T	c.(568-570)atC>atT	p.I190I	USP22_ENST00000537526.2_Silent_p.I178I|USP22_ENST00000455117.2_Intron	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	190					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						GGGCCTGCACGATGCAGTTCA	0.572000													15	43					0	0	0.004990	0	0
CETP	1071	broad.mit.edu	37	16	57005954	57005954	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:57005954G>A	ENST00000200676.3	+	8	839	c.709G>A	c.(709-711)Gat>Aat	p.D237N	CETP_ENST00000566128.1_Missense_Mutation_p.D172N|CETP_ENST00000379780.2_Missense_Mutation_p.D237N|CETP_ENST00000569082.1_3'UTR	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	237					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CCTGACAGGTGATCCCGTCAT	0.577000													13	56					0	0	0.004007	0	0
PAPPA2	60676	broad.mit.edu	37	1	176671742	176671742	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:176671742G>A	ENST00000367662.3	+	9	4400		c.e9-1			NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2						cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGTTTCCACAGGGAGGTCACA	0.498000													10	24					0	0	0.006214	0	0
PLCG2	5336	broad.mit.edu	37	16	81819622	81819622	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:81819622C>T	ENST00000359376.3	+	2	242	c.28C>T	c.(28-30)Ctt>Ttt	p.L10F		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	10					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.L10I(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGTAGATTCCCTTGCGGAATA	0.542000													19	64					0	0	0.012319	0	0
SSX6	280657	broad.mit.edu	37	X	47970732	47970732	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:47970732G>A	ENST00000376932.2	+	4	347	c.273G>A	c.(271-273)ggG>ggA	p.G91G	SSX6_ENST00000319275.3_5'UTR																large_intestine(6)|lung(4)|skin(2)|stomach(1)	13						GTAACCGTGGGAATGAGGGTG	0.488000													3	3					0	0	0.004672	0	0
LILRB1	10859	broad.mit.edu	37	19	55144765	55144765	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55144765C>T	ENST00000396331.1	+	8	1614	c.1257C>T	c.(1255-1257)gtC>gtT	p.V419V	LILRB1_ENST00000396321.2_Silent_p.V419V|LILRB1_ENST00000418536.2_Silent_p.V419V|LILRB1_ENST00000396315.1_Silent_p.V419V|LILRB1_ENST00000462628.1_Intron|LILRB1_ENST00000396317.1_Silent_p.V419V|LILRB1_ENST00000448689.1_Silent_p.V419V|LILRB1_ENST00000396327.3_Silent_p.V419V|LILRB1_ENST00000324602.7_Silent_p.V419V|LILRB1_ENST00000434867.2_Silent_p.V419V|LILRB1_ENST00000427581.2_Silent_p.V455V|LILRB1_ENST00000396332.4_Silent_p.V419V	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	419					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AGCTCGTGGTCTCAGGTGGGG	0.637000										HNSCC(37;0.09)			7	68					0	0	0.004482	0	0
IFNA14	3448	broad.mit.edu	37	9	21239548	21239548	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:21239548C>T	ENST00000380222.2	-	1	430	c.387G>A	c.(385-387)gtG>gtA	p.V129V		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	129					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GAGTCTCTTCCACCCCAACCT	0.453000													43	144					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179595338	179595338	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179595338G>A	ENST00000589042.1	-	61	18146	c.17922C>T	c.(17920-17922)gcC>gcT	p.A5974A	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.A4730A|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.A5657A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5657							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)			TTTCCAAGAAGGCAGTATTGT	0.453000													32	51					0	0	0.009535	0	0
KANK4	163782	broad.mit.edu	37	1	62739545	62739545	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:62739545C>T	ENST00000371153.4	-	3	1609	c.1231G>A	c.(1231-1233)Gac>Aac	p.D411N	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	411										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						ACCATCACGTCCGTCTGGCCC	0.517000													33	114					0	0	0.012213	0	0
SYNE1	23345	broad.mit.edu	37	6	152774627	152774627	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:152774627G>A	ENST00000495090.2	-	12	1830	c.1822C>T	c.(1822-1824)Cct>Tct	p.P608S	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000367253.4_Intron|SYNE1_ENST00000413186.2_Intron|SYNE1_ENST00000448038.1_Intron|SYNE1_ENST00000367248.3_Intron|SYNE1_ENST00000367255.5_Intron|SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000265368.4_Intron			Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	0					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)		GACTTTCCAGGAATTTCTAAA	0.363000										HNSCC(10;0.0054)			30	49					0	0	0.007291	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21789447	21789447	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:21789447G>A	ENST00000206660.6	+	12	1497	c.1497G>A	c.(1495-1497)aaG>aaA	p.K499K	RPGRIP1_ENST00000400017.2_Silent_p.K499K|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000382933.4_Silent_p.K141K|RPGRIP1_ENST00000556336.1_Silent_p.K472K|RPGRIP1_ENST00000557771.1_Silent_p.K472K			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	499					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AAGAAGAAAAGAAACTGTCCC	0.403000													13	18					0	0	0.001855	0	0
ZNF99	7652	broad.mit.edu	37	19	22940045	22940045	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:22940045C>T	ENST00000397104.3	-	6	2285	c.2286G>A	c.(2284-2286)agG>agA	p.R762R						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTTATGTTTCCTAAGGGTTG	0.358000													12	18					0	0	0.013537	0	0
GNAI2	2771	broad.mit.edu	37	3	50293694	50293694	+	Missense_Mutation	SNP	C	C	T	rs137853226		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:50293694C>T	ENST00000313601.6	+	5	919	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	GNAI2_ENST00000451956.1_Missense_Mutation_p.R142C|GNAI2_ENST00000422163.1_Missense_Mutation_p.R163C|GNAI2_ENST00000536647.1_Missense_Mutation_p.R98C|GNAI2_ENST00000266027.5_Missense_Mutation_p.R163C|GNAI2_ENST00000440628.1_Missense_Mutation_p.R127C|GNAI2_ENST00000491100.1_3'UTR	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	179					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		GCTACGGACCCGCGTAAAGAC	0.592000													15	30					0	0	0.004990	0	0
PRKCI	5584	broad.mit.edu	37	3	169985707	169985707	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:169985707C>T	ENST00000295797.4	+	5	674	c.369C>T	c.(367-369)tcC>tcT	p.S123S		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	123	Regulatory domain.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CTTCAGAATCCATCTACCGTA	0.363000													17	21					0	0	0.007413	0	0
TNC	3371	broad.mit.edu	37	9	117848531	117848531	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:117848531C>T	ENST00000350763.4	-	3	1890	c.1479G>A	c.(1477-1479)ggG>ggA	p.G493G	TNC_ENST00000542877.1_Silent_p.G493G|TNC_ENST00000340094.3_Silent_p.G493G|TNC_ENST00000535648.1_Silent_p.G493G|TNC_ENST00000345230.3_Silent_p.G493G|TNC_ENST00000537320.1_Silent_p.G493G|TNC_ENST00000346706.3_Silent_p.G493G|TNC_ENST00000423613.2_Silent_p.G493G|TNC_ENST00000341037.4_Silent_p.G493G	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	493	EGF-like 11.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGCAGTCTTCCCCTGTGTAGC	0.597000													19	85					0	0	0.012319	0	0
SCN3A	6328	broad.mit.edu	37	2	165984417	165984417	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:165984417G>A	ENST00000360093.3	-	18	3608	c.3117C>T	c.(3115-3117)atC>atT	p.I1039I	SCN3A_ENST00000409101.3_Silent_p.I990I|SCN3A_ENST00000283254.7_Silent_p.I1039I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1039						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)	TGCCTTCATGGATTTCTATAA	0.358000													5	58					0	0	0.000602	0	0
ATP2C2	9914	broad.mit.edu	37	16	84456112	84456112	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:84456112C>T	ENST00000416219.2	+	8	830	c.741C>T	c.(739-741)ttC>ttT	p.F247F	ATP2C2_ENST00000262429.4_Silent_p.F247F|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	247					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						ACATCGTCTTCATGGGGACCC	0.592000													22	33					0	0	0.014323	0	0
KRT24	192666	broad.mit.edu	37	17	38859631	38859631	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:38859631G>A	ENST00000264651.2	-	1	371	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	105	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				AACTCCCACAGAATCCAGAAC	0.567000													23	80					0	0	0.012319	0	0
DNAH5	1767	broad.mit.edu	37	5	13721267	13721267	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:13721267G>A	ENST00000265104.4	-	71	12225	c.12121C>T	c.(12121-12123)Cca>Tca	p.P4041S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4041	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGCGTCCGTGGATCAGATTCC	0.483000									Kartagener syndrome				18	70					0	0	0.007413	0	0
SORL1	6653	broad.mit.edu	37	11	121489489	121489489	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:121489489G>A	ENST00000260197.7	+	42	5740	c.5611G>A	c.(5611-5613)Ggt>Agt	p.G1871S	SORL1_ENST00000525532.1_Missense_Mutation_p.G815S|SORL1_ENST00000527934.1_Missense_Mutation_p.G486S|SORL1_ENST00000534286.1_Missense_Mutation_p.G781S|SORL1_ENST00000532694.1_Missense_Mutation_p.G717S	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1871	Fibronectin type-III 4.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCAGGTTTATGGTATTTTCTA	0.453000													9	66					0	0	0.010729	0	0
MYLK	4638	broad.mit.edu	37	3	123451915	123451915	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:123451915G>A	ENST00000360772.3	-	12	1722	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	MYLK_ENST00000360304.3_Silent_p.F448F|MYLK_ENST00000346322.5_Intron|MYLK_ENST00000475616.1_Silent_p.F448F|MYLK_ENST00000359169.1_Silent_p.F448F			Q15746	MYLK_HUMAN	myosin light chain kinase	448	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGCCTTCCAGGAACCAGGCCA	0.567000													9	20					0	0	0.010729	0	0
KCNK10	54207	broad.mit.edu	37	14	88729611	88729611	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:88729611C>T	ENST00000340700.5	-	2	773	c.322G>A	c.(322-324)Gag>Aag	p.E108K	KCNK10_ENST00000312350.5_Missense_Mutation_p.E113K|KCNK10_ENST00000319231.5_Missense_Mutation_p.E113K	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	108					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						TCCGCCTTCTCCAAGGCGATG	0.567000													9	17					0	0	0.003163	0	0
XPOT	11260	broad.mit.edu	37	12	64819643	64819643	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:64819643C>T	ENST00000332707.5	+	15	2150	c.1621C>T	c.(1621-1623)Cgg>Tgg	p.R541W		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	541	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	p.R541W(2)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TGCAAAAGTTCGGAGCAGGAC	0.363000													91	69					0	0	0.014410	0	0
SLC22A3	6581	broad.mit.edu	37	6	160831796	160831796	+	Missense_Mutation	SNP	G	G	A	rs151135411	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:160831796G>A	ENST00000392145.1	+	5	920	c.893G>A	c.(892-894)cGg>cAg	p.R298Q	SLC22A3_ENST00000275300.2_Missense_Mutation_p.R298Q			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	298						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		CTGATTACTCGGAAGAAAGGA	0.428000													18	55					0	0	0.006122	0	0
HOXB13	10481	broad.mit.edu	37	17	46804307	46804307	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:46804307C>T	ENST00000290295.7	-	2	1284	c.700G>A	c.(700-702)Gag>Aag	p.E234K		NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	234					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						GCCGCATACTCCCGCTCCAGC	0.612000													48	25					0	0	0.014410	0	0
CXCR2	3579	broad.mit.edu	37	2	219000175	219000175	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:219000175C>T	ENST00000318507.2	+	3	1078	c.651C>T	c.(649-651)tcC>tcT	p.S217S		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	217					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						TGCCCCAGTCCTTTGGCTTCA	0.557000													35	91					0	0	0.004878	0	0
GJB5	2709	broad.mit.edu	37	1	35223590	35223590	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:35223590G>A	ENST00000338513.1	+	2	832	c.659G>A	c.(658-660)aGg>aAg	p.R220K		NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	220					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				CTGGCAGCAAGGAAAGCTCAA	0.567000													10	52					0	0	0.008291	0	0
OTOL1	131149	broad.mit.edu	37	3	161220114	161220114	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:161220114G>A	ENST00000327928.4	+	3	474	c.474G>A	c.(472-474)ggG>ggA	p.G158G		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	158	Collagen-like 1.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GAGAACGTGGGGACCAAGGAG	0.413000													6	14					0	0	0.001168	0	0
FAM49A	81553	broad.mit.edu	37	2	16742799	16742799	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:16742799C>T	ENST00000381323.3	-	7	658	c.438G>A	c.(436-438)atG>atA	p.M146I	FAM49A_ENST00000355549.2_Missense_Mutation_p.M146I|FAM49A_ENST00000406434.1_Missense_Mutation_p.M146I	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	146						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			CCGGGTTCCTCATCTGAAATT	0.468000													11	21					0	0	0.013537	0	0
TGFA	7039	broad.mit.edu	37	2	70742001	70742001	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:70742001G>A	ENST00000295400.6	-	2	331	c.84C>T	c.(82-84)tcC>tcT	p.S28S	TGFA_ENST00000445399.1_Silent_p.S28S|TGFA_ENST00000450929.1_Silent_p.S34S|TGFA_ENST00000418333.2_Silent_p.S28S|TGFA_ENST00000444975.1_Silent_p.S34S|TGFA_ENST00000460808.1_5'UTR	NM_001099691.2|NM_003236.3	NP_001093161.1|NP_003227.1	P01135	TGFA_HUMAN	transforming growth factor, alpha	28					activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						CACTCAGCGGGGACGTGCTGT	0.607000													7	24					0	0	0.003080	0	0
OR1F1	4992	broad.mit.edu	37	16	3255033	3255033	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:3255033C>T	ENST00000304646.2	+	1	787	c.787C>T	c.(787-789)Ctg>Ttg	p.L263L	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						TTTTAACCCTCTGTCCTCCCA	0.483000													53	101					0	0	0.014410	0	0
SPTBN4	57731	broad.mit.edu	37	19	40978566	40978566	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:40978566G>A	ENST00000352632.3	+	2	124	c.38G>A	c.(37-39)gGc>gAc	p.G13D	SPTBN4_ENST00000338932.3_Missense_Mutation_p.G13D|SPTBN4_ENST00000595535.1_Missense_Mutation_p.G13D|SPTBN4_ENST00000344104.3_Missense_Mutation_p.G13D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.G13D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	13	Actin-binding.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AACATGGAGGGCCTGCCTGCT	0.637000													10	14					0	0	0.002450	0	0
TAF1L	138474	broad.mit.edu	37	9	32635017	32635017	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:32635017G>A	ENST00000242310.4	-	1	650	c.561C>T	c.(559-561)ccC>ccT	p.P187P	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	187					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CAATGATGGAGGGCAAGATGA	0.493000													9	39					0	0	0.004482	0	0
TNP2	7142	broad.mit.edu	37	16	11362996	11362996	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:11362996G>A	ENST00000312693.3	-	1	193	c.124C>T	c.(124-126)Cgt>Tgt	p.R42C	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	42					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						CGGCTGCCACGATGGCTCTGT	0.632000													84	182					0	0	0.014410	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375783	93375783	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:93375783C>T	ENST00000375765.3	-	2	715	c.327G>A	c.(325-327)ggG>ggA	p.G109G		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	109					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						TCTCCACGTCCCCTTTGATCT	0.592000													9	60					0	0	0.006214	0	0
NTRK2	4915	broad.mit.edu	37	9	87339142	87339142	+	Missense_Mutation	SNP	G	G	A	rs67648204		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:87339142G>A	ENST00000304053.6	+	8	1207	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	NTRK2_ENST00000323115.4_Missense_Mutation_p.E242K|NTRK2_ENST00000359847.3_Missense_Mutation_p.E242K|NTRK2_ENST00000395866.2_Missense_Mutation_p.E86K|NTRK2_ENST00000376214.1_Missense_Mutation_p.E242K|NTRK2_ENST00000376208.1_Missense_Mutation_p.E242K|NTRK2_ENST00000376213.1_Missense_Mutation_p.E242K|NTRK2_ENST00000395882.1_Missense_Mutation_p.E242K|NTRK2_ENST00000277120.3_Missense_Mutation_p.E242K	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	242	Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TTTGTAGAATGAAACAAGCCA	0.388000										TSP Lung(25;0.17)			19	22					0	0	0.010504	0	0
FAM171B	165215	broad.mit.edu	37	2	187626444	187626444	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:187626444G>A	ENST00000304698.5	+	8	1578	c.1375G>A	c.(1375-1377)Gat>Aat	p.D459N		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	459						integral to membrane	DNA binding	p.D459N(3)|p.D459H(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AACTCGGGACGATTTTAAAAT	0.368000													17	29					0	0	0.006122	0	0
TRIM5	85363	broad.mit.edu	37	11	5686228	5686228	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5686228C>T	ENST00000305836.5	-	8	1595	c.1293G>A	c.(1291-1293)gtG>gtA	p.V431V	TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000380034.3_Silent_p.V431V			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	431	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GACAAATAATCACAGAGAGGG	0.408000													8	25					0	0	0.003080	0	0
PLCH1	23007	broad.mit.edu	37	3	155282900	155282900	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:155282900C>T	ENST00000460012.1	-	8	1140	c.783G>A	c.(781-783)acG>acA	p.T261T	PLCH1_ENST00000494598.1_Silent_p.T279T|PLCH1_ENST00000340059.7_Silent_p.T279T|PLCH1_ENST00000414191.1_Silent_p.T261T|PLCH1_ENST00000447496.2_Silent_p.T279T|PLCH1_ENST00000334686.6_Silent_p.T261T			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	279					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.T261T(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCATGAAGTTCGTGAAGCCTT	0.423000													9	23					0	0	0.004482	0	0
MYH7B	57644	broad.mit.edu	37	20	33581170	33581170	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:33581170G>A	ENST00000262873.7	+	24	2559	c.2467G>A	c.(2467-2469)Gaa>Aaa	p.E823K		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	781						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGGCGTCCTGGAAGAGCTCCG	0.662000													10	29					0	0	0.013537	0	0
NFIX	4784	broad.mit.edu	37	19	13184830	13184830	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:13184830C>T	ENST00000358552.3	+	4	805	c.805C>T	c.(805-807)Cct>Tct	p.P269S	NFIX_ENST00000588228.1_Missense_Mutation_p.P223S|NFIX_ENST00000585575.1_Missense_Mutation_p.P262S|NFIX_ENST00000587260.1_Missense_Mutation_p.P269S|NFIX_ENST00000592199.1_Missense_Mutation_p.P270S|NFIX_ENST00000397661.2_Missense_Mutation_p.P270S|NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000360105.4_Missense_Mutation_p.P273S|NFIX_ENST00000587760.1_Missense_Mutation_p.P262S			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	270					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CACCTCCCCTCCTTCCACCAG	0.622000													33	48					0	0	0.004878	0	0
SELP	6403	broad.mit.edu	37	1	169581510	169581510	+	Silent	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:169581510T>C	ENST00000263686.6	-	6	943	c.906A>G	c.(904-906)gaA>gaG	p.E302E	SELP_ENST00000367786.2_Silent_p.E302E|SELP_ENST00000367792.2_Silent_p.E302E|SELP_ENST00000367791.2_Silent_p.E302E|SELP_ENST00000367788.2_Intron|SELP_ENST00000367794.2_Silent_p.E302E|SELP_ENST00000458599.2_Silent_p.E302E|SELP_ENST00000367793.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	302	Sushi 2.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	ATTGCACCACTTCCGGTCCAA	0.502000													31	82					0	0	0.004289	0	0
LRP2	4036	broad.mit.edu	37	2	170097749	170097749	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:170097749G>A	ENST00000263816.3	-	25	4079	c.3794C>T	c.(3793-3795)gCc>gTc	p.A1265V	LRP2_ENST00000443831.1_Missense_Mutation_p.A1128V	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1265	LDL-receptor class A 13.				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)	GGGGACACAGGCATTGTGCTC	0.502000													25	63					0	0	0.005443	0	0
CMTM8	152189	broad.mit.edu	37	3	32409429	32409429	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:32409429C>T	ENST00000307526.3	+	3	681	c.387C>T	c.(385-387)tcC>tcT	p.S129S	CMTM8_ENST00000458535.2_Silent_p.S71S	NM_178868.3	NP_849199.2	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing 8	129	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						ATGCATCTTCCGTCTCCCCTG	0.587000													19	47					0	0	0.007413	0	0
SERPINI2	5276	broad.mit.edu	37	3	167159914	167159914	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:167159914C>T	ENST00000476257.1	-	10	1499	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N	SERPINI2_ENST00000264677.4_Missense_Mutation_p.D401N|SERPINI2_ENST00000461846.1_Missense_Mutation_p.D401N|SERPINI2_ENST00000471111.1_Missense_Mutation_p.D401N			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	401					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						GAATCTAAATCTCTTCCTTTT	0.323000													7	14					0	0	0.004482	0	0
SPAM1	6677	broad.mit.edu	37	7	123594008	123594008	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:123594008G>A	ENST00000340011.5	+	3	741	c.384G>A	c.(382-384)aaG>aaA	p.K128K	SPAM1_ENST00000223028.7_Silent_p.K128K|SPAM1_ENST00000460182.1_Silent_p.K128K|SPAM1_ENST00000402183.2_Silent_p.K128K|SPAM1_ENST00000439500.1_Silent_p.K128K	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	128					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	ACAAAGCTAAGAAAGACATTA	0.413000													6	47					0	0	0.001168	0	0
TRBV7-4	28594	broad.mit.edu	37	7	142176577	142176577	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142176577C>T	ENST00000390369.2	-	0	98																											CCCGTCCCCTCTTTGCGACTT	0.483000													16	26					0	0	0.004990	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92671613	92671613	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:92671613C>T	ENST00000318445.6	+	7	1620	c.1406C>T	c.(1405-1407)tCg>tTg	p.S469L	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.S469L	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	469	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GACCCCTACTCGCCCTGCAAT	0.532000													10	80					0	0	0.010729	0	0
TTN	7273	broad.mit.edu	37	2	179497750	179497750	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179497750C>T	ENST00000589042.1	-	234	43332	c.43108G>A	c.(43108-43110)Gga>Aga	p.G14370R	TTN_ENST00000460472.2_Missense_Mutation_p.G5305R|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G5430R|TTN_ENST00000342992.6_Missense_Mutation_p.G11802R|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G5497R|TTN_ENST00000591111.1_Missense_Mutation_p.G12729R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12729							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)			TGCTTCTTTCCATCCTCAATG	0.388000													12	30					0	0	0.013537	0	0
SIRPB2	284759	broad.mit.edu	37	20	1460520	1460520	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:1460520G>A	ENST00000359801.3	-	2	312	c.276C>T	c.(274-276)ttC>ttT	p.F92F	SIRPB2_ENST00000381630.1_Intron|SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000537284.1_Intron	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	92	Ig-like V-type 1.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTACCCCAGGGAAGGAGCCAC	0.473000													40	35					0	0	0.007835	0	0
FNDC1	84624	broad.mit.edu	37	6	159677661	159677661	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:159677661G>A	ENST00000297267.9	+	18	5372	c.5172G>A	c.(5170-5172)acG>acA	p.T1724T	FNDC1_ENST00000340366.6_Silent_p.T1661T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1724	Fibronectin type-III 5.					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)		AGCCCAACACGAGGTACGATG	0.423000													24	73					0	0	0.003330	0	0
MMP20	9313	broad.mit.edu	37	11	102465400	102465400	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:102465400C>T	ENST00000260228.2	-	7	1054	c.1042G>A	c.(1042-1044)Gat>Aat	p.D348N		NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	348	Hemopexin-like 2.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TAAGCTGCATCCACATTGGAC	0.522000													4	32					0	0	0.009096	0	0
ZNF112	7665	broad.mit.edu	37	19	44833723	44833723	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:44833723G>A	ENST00000354340.4	-	4	638	c.587C>T	c.(586-588)tCc>tTc	p.S196F	ZNF112_ENST00000337401.4_Missense_Mutation_p.S202F|ZNF112_ENST00000536500.1_Missense_Mutation_p.S219F	NM_013380.3	NP_037512.3			zinc finger protein 112																		ATTTTTCATGGAAATTTGCTG	0.378000													29	58					0	0	0.008361	0	0
MMP16	4325	broad.mit.edu	37	8	89058988	89058988	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:89058988C>T	ENST00000286614.6	-	9	1679	c.1398G>A	c.(1396-1398)atG>atA	p.M466I		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	466	Hemopexin-like 3.				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						CCATTGTTTTCATTTCTTCAC	0.368000													11	69					0	0	0.010729	0	0
DPT	1805	broad.mit.edu	37	1	168698215	168698215	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:168698215C>T	ENST00000367817.3	-	1	287	c.198G>A	c.(196-198)aaG>aaA	p.K66K		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	66	2 X 53-55 AA tandem repeats.				cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CAGAACCTTCCTTCTTGCTGA	0.587000													24	51					0	0	0.005443	0	0
KLK3	354	broad.mit.edu	37	19	51359505	51359505	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:51359505C>T	ENST00000360617.3	+	2	56	c.56C>T	c.(55-57)cCc>cTc	p.P19L	KLK3_ENST00000595952.1_Missense_Mutation_p.P19L|KLK3_ENST00000326003.2_Missense_Mutation_p.P19L|KLK3_ENST00000597483.1_Missense_Mutation_p.P19L|KLK3_ENST00000593997.1_Missense_Mutation_p.P19L			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	19					negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GGTGCTGCACCCCTCATCCTG	0.597000													13	96					0	0	0.001855	0	0
DCTN1	1639	broad.mit.edu	37	2	74598741	74598741	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:74598741G>A	ENST00000361874.3	-	8	885	c.568C>T	c.(568-570)Ccg>Tcg	p.P190S	DCTN1_ENST00000409868.1_Missense_Mutation_p.P173S|DCTN1_ENST00000409567.3_Missense_Mutation_p.P170S|DCTN1_ENST00000394003.3_Missense_Mutation_p.P183S|DCTN1_ENST00000409438.1_Missense_Mutation_p.P56S|DCTN1_ENST00000409240.1_Missense_Mutation_p.P153S|DCTN1_ENST00000407639.2_Missense_Mutation_p.P56S	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	190	Ser-rich.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GCTGCCAGCGGAGTCTGAGCC	0.667000													6	5					0	0	0.001168	0	0
PTGFRN	5738	broad.mit.edu	37	1	117503968	117503968	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:117503968G>A	ENST00000393203.2	+	5	1464	c.1317G>A	c.(1315-1317)gcG>gcA	p.A439A		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	439	Ig-like C2-type 4.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GTGGGGAGGCGAATGTCCGAT	0.602000													17	51					0	0	0.004007	0	0
CASC1	55259	broad.mit.edu	37	12	25297531	25297531	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:25297531C>T	ENST00000354189.5	-	9	979	c.944G>A	c.(943-945)cGa>cAa	p.R315Q	CASC1_ENST00000395987.3_Missense_Mutation_p.R257Q|CASC1_ENST00000395990.2_Missense_Mutation_p.R211Q|CASC1_ENST00000320267.9_Missense_Mutation_p.R251Q|CASC1_ENST00000537577.1_Missense_Mutation_p.R139Q|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000545133.1_Missense_Mutation_p.R192Q	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	251										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			ATGCAGGAGTCGTACAGCAAT	0.378000													256	10					0	0	0.014410	0	0
MET	4233	broad.mit.edu	37	7	116418907	116418907	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:116418907C>T	ENST00000397752.3	+	17	3618	c.3418C>T	c.(3418-3420)Ctc>Ttc	p.L1140F	MET_ENST00000539704.1_Missense_Mutation_p.L10F|MET_ENST00000318493.6_Missense_Mutation_p.L1158F	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1140	Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TCCCAATGTCCTCTCGCTCCT	0.463000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				17	64					0	0	0.004990	0	0
MKI67	4288	broad.mit.edu	37	10	129903183	129903183	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:129903183C>T	ENST00000368654.3	-	13	7296	c.6921G>A	c.(6919-6921)aaG>aaA	p.K2307K	MKI67_ENST00000368653.3_Silent_p.K1947K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2307	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGGCCTTTTCCTTAGGAGTTT	0.478000													20	132					0	0	0.010504	0	0
ZNF600	162966	broad.mit.edu	37	19	53269225	53269225	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:53269225G>A	ENST00000338230.3	-	3	2051	c.1784C>T	c.(1783-1785)tCa>tTa	p.S595L		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	595					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TGCCAGGTATGAATTACGCAC	0.408000													51	100					0	0	0.014410	0	0
TBX18	9096	broad.mit.edu	37	6	85466564	85466564	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:85466564C>T	ENST00000369663.5	-	4	960	c.623G>A	c.(622-624)tGg>tAg	p.W208*	TBX18_ENST00000606784.1_Nonsense_Mutation_p.W50*|TBX18_ENST00000606521.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	208					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TGCCACCATCCATTTCGAACT	0.483000													14	21					0	0	0.004007	0	0
DLG2	1740	broad.mit.edu	37	11	83170872	83170872	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:83170872C>T	ENST00000398309.2	-	23	3072	c.2602G>A	c.(2602-2604)Gaa>Aaa	p.E868K	DLG2_ENST00000376106.3_Missense_Mutation_p.E332K|DLG2_ENST00000404783.3_Missense_Mutation_p.E346K|DLG2_ENST00000537455.1_Missense_Mutation_p.E618K|DLG2_ENST00000330014.6_Missense_Mutation_p.E789K|DLG2_ENST00000532653.1_Missense_Mutation_p.E850K|DLG2_ENST00000524982.1_Missense_Mutation_p.E864K|DLG2_ENST00000280241.8_Missense_Mutation_p.E907K|DLG2_ENST00000426717.2_Missense_Mutation_p.E332K|DLG2_ENST00000418306.2_Missense_Mutation_p.E747K|DLG2_ENST00000376104.2_Missense_Mutation_p.E973K|DLG2_ENST00000543673.1_Missense_Mutation_p.E973K	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	868						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TATAACTTTTCCTTTGAGGGA	0.353000													12	29					0	0	0.004007	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961966	73961966	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:73961966A>C	ENST00000373468.1	-	3	3077	c.2426T>G	c.(2425-2427)gTt>gGt	p.V809G	KIAA2022_ENST00000055682.5_Missense_Mutation_p.V809G			Q5QGS0	K2022_HUMAN	KIAA2022	809					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						TCCCGGGATAACAGGTATATT	0.408000													51	22					0	0	0.014410	0	0
CHST15	51363	broad.mit.edu	37	10	125805315	125805315	+	Silent	SNP	G	G	A	rs41297147	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:125805315G>A	ENST00000346248.5	-	2	1056	c.414C>T	c.(412-414)tcC>tcT	p.S138S	CHST15_ENST00000435907.1_Silent_p.S138S|CHST15_ENST00000421115.1_Silent_p.S138S	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	138					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TATTTACAGAGGATTGGTGGT	0.438000													28	98					0	0	0.010818	0	0
GPR149	344758	broad.mit.edu	37	3	154138961	154138961	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:154138961C>T	ENST00000389740.2	-	3	1589	c.1490G>A	c.(1489-1491)gGa>gAa	p.G497E		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	497						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AATATCACCTCCTGTTTTGTC	0.403000													27	109					0	0	0.006320	0	0
ABCA4	24	broad.mit.edu	37	1	94564427	94564427	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:94564427A>T	ENST00000370225.3	-	6	777	c.691T>A	c.(691-693)Tcc>Acc	p.S231T	ABCA4_ENST00000535735.1_Missense_Mutation_p.S231T	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	231					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGGGAGAGGGAGCACAGGGCA	0.602000													14	41					0	0	0.002450	0	0
FNDC8	54752	broad.mit.edu	37	17	33457401	33457401	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:33457401G>A	ENST00000158009.5	+	4	1038	c.923G>A	c.(922-924)gGg>gAg	p.G308E	NLE1_ENST00000586869.1_3'UTR	NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	308										breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		GTGTCCATCGGGCCGGAGGAG	0.582000													39	21					0	0	0.005524	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841458	8841458	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:8841458C>T	ENST00000324060.2	+	1	143	c.68C>T	c.(67-69)tCa>tTa	p.S23L		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CACTCAGGATCACGCCAGCTC	0.527000													6	43					0	0	0.001168	0	0
WIF1	11197	broad.mit.edu	37	12	65514243	65514243	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:65514243G>A	ENST00000286574.4	-	2	616	c.242C>T	c.(241-243)cCt>cTt	p.P81L		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	81	WIF.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GATATTGACAGGAATAGCTGG	0.408000			T	HMGA2	pleomorphic salivary gland adenoma								26	32					0	0	0.006320	0	0
HTT	3064	broad.mit.edu	37	4	3214418	3214418	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:3214418C>T	ENST00000355072.5	+	49	6901	c.6756C>T	c.(6754-6756)ttC>ttT	p.F2252F		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2252					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTGTGAAATTCGTGGTGGCAA	0.557000													27	26					0	0	0.008361	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130288974	130288974	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:130288974C>T	ENST00000257359.6	-	2	1640	c.934G>A	c.(934-936)Gac>Aac	p.D312N		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	312	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ATGGCCGTGTCGTAGTGCTCT	0.642000													8	85					0	0	0.006214	0	0
NOD1	10392	broad.mit.edu	37	7	30492014	30492014	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:30492014C>G	ENST00000222823.4	-	6	1544	c.1019G>C	c.(1018-1020)cGc>cCc	p.R340P	NOD1_ENST00000423334.2_3'UTR	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	340	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CAGGAACTGGCGCGGGACCTC	0.682000													23	59					0	0	0.004656	0	0
DCTN3	11258	broad.mit.edu	37	9	34618712	34618712	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:34618712A>C	ENST00000447983.2	-	2	195	c.142T>G	c.(142-144)Tcc>Gcc	p.S48A	DCTN3_ENST00000378913.2_Missense_Mutation_p.S48A|DCTN3_ENST00000477738.2_Missense_Mutation_p.S48A|DCTN3_ENST00000259632.7_Missense_Mutation_p.S48A|DCTN3_ENST00000378916.4_Missense_Mutation_p.S48A|DCTN3_ENST00000341694.2_Missense_Mutation_p.S48A			O75935	DCTN3_HUMAN	dynactin 3 (p22)	48					cytokinesis|G2/M transition of mitotic cell cycle|mitosis	centrosome|cleavage furrow|condensed chromosome kinetochore|cytosol|dynactin complex|midbody|perinuclear region of cytoplasm|spindle	protein binding|structural molecule activity			large_intestine(1)|skin(1)	2	all_epithelial(49;0.0863)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.0388)		CTCTTGCTGGAAATGTTCCCC	0.527000													14	30					0	0	0.004990	0	0
NIPSNAP1	8508	broad.mit.edu	37	22	29965262	29965262	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:29965262G>A	ENST00000216121.7	-	4	541	c.287C>T	c.(286-288)cCc>cTc	p.P96L		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	96								p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						GTGAAGCTTGGGCAGCACAGC	0.592000													5	23					0	0	0.001984	0	0
PHF21B	112885	broad.mit.edu	37	22	45309846	45309846	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:45309846G>A	ENST00000313237.5	-	5	837	c.687C>T	c.(685-687)ttC>ttT	p.F229F	PHF21B_ENST00000396103.3_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000403565.1_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	229							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		TGATGACCTGGAAGATGCCAT	0.647000													43	45					0	0	0.009718	0	0
GPR98	84059	broad.mit.edu	37	5	90449127	90449127	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:90449127C>T	ENST00000405460.2	+	89	18810	c.18714C>T	c.(18712-18714)ttC>ttT	p.F6238F	GPR98_ENST00000425867.2_Silent_p.F1899F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6238					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)		GAGCCACGTTCCCGTCCTCTG	0.483000													5	8					0	0	0.001168	0	0
FAM46C	54855	broad.mit.edu	37	1	118166142	118166142	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:118166142G>A	ENST00000369448.3	+	2	899	c.652G>A	c.(652-654)Gac>Aac	p.D218N		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	218										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CATGTACGGGGACTTTGAGGA	0.488000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			23	130					0	0	0.007291	0	0
C11orf53	341032	broad.mit.edu	37	11	111156412	111156412	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:111156412T>C	ENST00000280325.4	+	4	491	c.344T>C	c.(343-345)cTc>cCc	p.L115P		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	115										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		CCTGACGGTCTCAGCCAGCCT	0.587000													16	51					0	0	0.004990	0	0
MED17	9440	broad.mit.edu	37	11	93523911	93523911	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:93523911C>T	ENST00000251871.3	+	3	876	c.589C>T	c.(589-591)Cga>Tga	p.R197*		NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	197					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTGGAAACTTCGAAAAGTTGG	0.398000													10	41					0	0	0.010729	0	0
STRA8	346673	broad.mit.edu	37	7	134943183	134943183	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:134943183C>T	ENST00000275764.3	+	9	932	c.932C>T	c.(931-933)cCc>cTc	p.P311L		NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8	311					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						GCATCCTTTCCCGTTGATGAA	0.517000													3	4					0	0	0.004672	0	0
MAP3K2	10746	broad.mit.edu	37	2	128079620	128079620	+	Splice_Site	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:128079620A>C	ENST00000409947.1	-	12	1328		c.e12+1		MAP3K2_ENST00000344908.5_Splice_Site			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2						activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		TCTATTACTTACAACGGCTGG	0.373000													7	7					0	0	0.003080	0	0
DOPEY1	23033	broad.mit.edu	37	6	83828678	83828678	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:83828678G>A	ENST00000349129.2	+	8	1112	c.852G>A	c.(850-852)ctG>ctA	p.L284L	DOPEY1_ENST00000237163.5_Silent_p.L284L|DOPEY1_ENST00000369739.3_Silent_p.L284L|DOPEY1_ENST00000536812.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	284					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ATATGTCTCTGAATCGAAGAC	0.423000													40	59					0	0	0.010771	0	0
SGCZ	137868	broad.mit.edu	37	8	14412247	14412247	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:14412247G>A	ENST00000382080.1	-	2	943	c.228C>T	c.(226-228)ttC>ttT	p.F76F	SGCZ_ENST00000421524.2_Silent_p.F63F	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	63					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TTACCACAGTGAAATTCATAA	0.333000													4	35					0	0	0.000602	0	0
LRRC56	115399	broad.mit.edu	37	11	552096	552096	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:552096G>A	ENST00000270115.7	+	12	1545	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	349										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAGGCCAGGGAGCCCCCCGA	0.657000													11	71					0	0	0.001855	0	0
AK9	221264	broad.mit.edu	37	6	109867287	109867287	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:109867287C>T	ENST00000424296.2	-	26	3084	c.3008G>A	c.(3007-3009)gGc>gAc	p.G1003D	AK9_ENST00000341338.6_Missense_Mutation_p.G82D|AK9_ENST00000355283.1_Missense_Mutation_p.G82D	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		CATAGTTTTGCCAGAGCCCTG	0.448000													17	117					0	0	0.008871	0	0
MGAM	8972	broad.mit.edu	37	7	141726950	141726950	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:141726950C>T	ENST00000475668.2	+	9	1072	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C	MGAM_ENST00000549489.2_Missense_Mutation_p.R340C			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	340	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CATCACTTACCGCACCATTGG	0.388000													38	97					0	0	0.009718	0	0
DOCK2	1794	broad.mit.edu	37	5	169474608	169474608	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:169474608C>T	ENST00000256935.8	+	40	4141	c.4061C>T	c.(4060-4062)tCc>tTc	p.S1354F	DOCK2_ENST00000520908.1_Missense_Mutation_p.S846F|DOCK2_ENST00000540750.1_Missense_Mutation_p.S415F|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1354	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGATTCCCCTCCTTCCTGCGG	0.532000													11	21					0	0	0.010729	0	0
KLHL4	56062	broad.mit.edu	37	X	86887278	86887278	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:86887278C>T	ENST00000373119.4	+	7	1538	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	KLHL4_ENST00000373114.4_Missense_Mutation_p.R465C	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	465						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						CATGAATGGCCGTAGGCTTCA	0.393000													17	8					0	0	0.004007	0	0
ADORA3	140	broad.mit.edu	37	1	112026336	112026336	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:112026336C>T	ENST00000369716.4	-	6	1150	c.1017G>A	c.(1015-1017)aaG>aaA	p.K339K	ADORA3_ENST00000369717.4_Silent_p.K258K	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GAGCCATTTCCTTTGGAGTCA	0.428000													9	19					0	0	0.008291	0	0
ADAM30	11085	broad.mit.edu	37	1	120437336	120437336	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:120437336G>A	ENST00000369400.1	-	1	1782	c.1624C>T	c.(1624-1626)Cga>Tga	p.R542*		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	542	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TTAAAATTTCGAATTCCTGTA	0.378000													170	365					0	0	0.014410	0	0
WIPF1	7456	broad.mit.edu	37	2	175431779	175431779	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:175431779C>T	ENST00000409891.1	-	7	1677	c.1475G>A	c.(1474-1476)gGt>gAt	p.G492D	WIPF1_ENST00000392546.2_Intron|WIPF1_ENST00000359761.3_Intron|WIPF1_ENST00000392547.2_Intron|AC018890.6_ENST00000412835.1_RNA|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000272746.5_Intron			O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	0					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TCTTCAAAAACCTTGGCAGAA	0.478000													13	26					0	0	0.013537	0	0
EFEMP1	2202	broad.mit.edu	37	2	56104905	56104905	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:56104905C>T	ENST00000394555.2	-	6	1171	c.736G>A	c.(736-738)Gca>Aca	p.A246T	EFEMP1_ENST00000394554.1_Missense_Mutation_p.A246T|EFEMP1_ENST00000355426.3_Missense_Mutation_p.A246T|EFEMP1_ENST00000424836.2_Intron	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	246	EGF-like 3; calcium-binding (Potential).				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTGTTTGCTGCCAATTGAAAC	0.438000													15	48					0	0	0.002450	0	0
KCNV2	169522	broad.mit.edu	37	9	2718181	2718181	+	Missense_Mutation	SNP	G	G	A	rs140256288		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:2718181G>A	ENST00000382082.3	+	1	680	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	148						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GCAGACAGACGAATACTTCTT	0.657000													5	20					0	0	0.001168	0	0
GJA8	2703	broad.mit.edu	37	1	147380418	147380418	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:147380418G>A	ENST00000240986.4	+	2	389	c.336G>A	c.(334-336)gaG>gaA	p.E112E	GJA8_ENST00000369235.1_Silent_p.E112E	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	112					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GCGAGGCGGAGGAGCTGGGCC	0.652000													23	38					0	0	0.012319	0	0
HLA-DPB1	3115	broad.mit.edu	37	6	33052869	33052869	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:33052869C>T	ENST00000418931.2	+	3	623	c.507C>T	c.(505-507)gtC>gtT	p.V169V		NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	169	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CAGCTGGGGTCGTGTCCACCA	0.557000													28	51					0	0	0.012213	0	0
LOC440040	440040	broad.mit.edu	37	11	49805603	49805603	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:49805603G>A	ENST00000527477.1	+	0	1291																											GGTCTAGTGGGAGAATTTCTG	0.512000													14	31					0	0	0.004007	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756661	56756661	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:56756661G>A	ENST00000326855.2	+	1	315	c.273G>A	c.(271-273)ttG>ttA	p.L91L		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						AAAAGAATTTGATGTTATTTC	0.383000													12	44					0	0	0.013537	0	0
KIF20B	9585	broad.mit.edu	37	10	91503565	91503565	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:91503565G>A	ENST00000416354.1	+	22	4078	c.4005_splice	c.e22-1	p.V1336_splice	KIF20B_ENST00000371728.3_Splice_Site_p.V1306_splice|KIF20B_ENST00000260753.4_Splice_Site_p.V1266_splice|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Splice_Site_p.V1306_splice			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1306					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TATTTTGTAGGTATCTGTAAT	0.289000													9	32					0	0	0.006214	0	0
LTBP1	4052	broad.mit.edu	37	2	33540282	33540282	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:33540282C>T	ENST00000404816.2	+	24	4029	c.3676C>T	c.(3676-3678)Cat>Tat	p.H1226Y	LTBP1_ENST00000390003.4_Missense_Mutation_p.H901Y|LTBP1_ENST00000402934.1_Missense_Mutation_p.H847Y|LTBP1_ENST00000407925.1_Missense_Mutation_p.H900Y|LTBP1_ENST00000354476.3_Missense_Mutation_p.H1227Y|LTBP1_ENST00000272273.5_Missense_Mutation_p.H166Y|LTBP1_ENST00000418533.2_Missense_Mutation_p.H900Y|LTBP1_ENST00000404525.1_Missense_Mutation_p.H847Y			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1226	EGF-like 12; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGGTTCTTTCCATTGTGTCTG	0.413000													14	29					0	0	0.004990	0	0
FRMPD3	84443	broad.mit.edu	37	X	106788969	106788969	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:106788969C>T	ENST00000276185.4	+	6	399	c.399C>T	c.(397-399)tcC>tcT	p.S133S	FRMPD3-AS1_ENST00000415252.1_RNA|FRMPD3_ENST00000477796.1_3'UTR			Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	133						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TTTTCCAGTCCCCCAAATCTG	0.468000													16	3					0	0	0.008871	0	0
SSMEM1	136263	broad.mit.edu	37	7	129856265	129856265	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:129856265G>A	ENST00000297819.3	+	3	741	c.690G>A	c.(688-690)gaG>gaA	p.E230E		NM_145268.3	NP_660311.1			serine-rich single-pass membrane protein 1																		ACAGTCAAGAGGAAAGTTCCA	0.398000													31	127					0	0	0.003755	0	0
LAMB1	3912	broad.mit.edu	37	7	107600245	107600245	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:107600245G>A	ENST00000393561.1	-	17	2605	c.2421C>T	c.(2419-2421)tcC>tcT	p.S807S	LAMB1_ENST00000393560.1_Silent_p.S783S|LAMB1_ENST00000222399.6_Silent_p.S783S			P07942	LAMB1_HUMAN	laminin, beta 1	783	Laminin EGF-like 6.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GATCACACACGGAACTTAACG	0.572000													4	18					0	0	0.009096	0	0
OR56B1	387748	broad.mit.edu	37	11	5758155	5758155	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5758155C>T	ENST00000317121.3	+	1	475	c.409C>T	c.(409-411)Cac>Tac	p.H137Y	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GGCTATTTGTCACCCTCTTCG	0.443000													10	31					0	0	0.008291	0	0
CACHD1	57685	broad.mit.edu	37	1	65119465	65119465	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:65119465T>A	ENST00000371073.2	+	11	1565	c.1565T>A	c.(1564-1566)cTt>cAt	p.L522H	CACHD1_ENST00000290039.5_Missense_Mutation_p.L471H|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	522	Cache 1.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CACCCATCTCTTACCAGGCCA	0.338000													51	117					0	0	0.014410	0	0
TPP1	1200	broad.mit.edu	37	11	6636428	6636428	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:6636428G>A	ENST00000533371.1	-	10	1468	c.670C>T	c.(670-672)Ccc>Tcc	p.P224S	TPP1_ENST00000299427.6_Missense_Mutation_p.P467S			O14773	TPP1_HUMAN	tripeptidyl peptidase I	467					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		CATGGAATGGGCACTCTGTTG	0.562000													26	80					0	0	0.003954	0	0
ITGA8	8516	broad.mit.edu	37	10	15614330	15614330	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:15614330G>A	ENST00000378076.3	-	25	2870	c.2517C>T	c.(2515-2517)atC>atT	p.I839I		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	839					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCACCTCCAGGATGGTGTCAC	0.443000													12	51					0	0	0.001855	0	0
GARNL3	84253	broad.mit.edu	37	9	130117638	130117638	+	Missense_Mutation	SNP	C	C	T	rs145626536	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:130117638C>T	ENST00000373387.4	+	20	2174	c.1822C>T	c.(1822-1824)Cgg>Tgg	p.R608W	GARNL3_ENST00000435213.2_Missense_Mutation_p.R586W|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000314904.5_Missense_Mutation_p.R608W	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	608	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GGTTGCAATTCGGAATAAACT	0.468000													47	171					0	0	0.014410	0	0
COL17A1	1308	broad.mit.edu	37	10	105819949	105819949	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:105819949C>T	ENST00000353479.5	-	14	1359	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	COL17A1_ENST00000369733.3_Missense_Mutation_p.E357K|COL17A1_ENST00000393211.3_Missense_Mutation_p.E357K	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	357	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGCTCCATCTCCTTCTTGGCA	0.542000													17	41					0	0	0.006122	0	0
KMT2B	9757	broad.mit.edu	37	19	36214784	36214784	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:36214784C>T	ENST00000420124.1	+	8	3210	c.3210C>T	c.(3208-3210)ctC>ctT	p.L1070L	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Silent_p.L1070L																							AGGACTCCCTCCTGCAGCGCA	0.716000													4	16					0	0	0.000602	0	0
CLIP2	7461	broad.mit.edu	37	7	73770739	73770739	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:73770739G>A	ENST00000223398.6	+	5	1130		c.e5-1		CLIP2_ENST00000361545.5_Splice_Site|CLIP2_ENST00000395060.1_Splice_Site	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2							microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TGCTTCCACAGGTACTTCCAG	0.587000													30	78					0	0	0.007291	0	0
VIP	7432	broad.mit.edu	37	6	153076443	153076443	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:153076443C>T	ENST00000367244.3	+	4	442	c.270C>T	c.(268-270)ttC>ttT	p.F90F	VIP_ENST00000367243.3_Silent_p.F90F	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	90					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		CCAGTGACTTCAGTAAACTCT	0.308000													18	32					0	0	0.012319	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90499516	90499516	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:90499516C>T	ENST00000325643.5	+	3	441	c.375C>T	c.(373-375)atC>atT	p.I125I		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CTTGCAGAATCCTCCTGAGGG	0.572000													6	37					0	0	0.001984	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111697971	111697971	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:111697971G>A	ENST00000340433.2	+	1	245	c.15G>A	c.(13-15)acG>acA	p.T5T		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	5							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGAAGTGCACGAAATCATCAT	0.458000													36	22					0	0	0.005524	0	0
WBP2	23558	broad.mit.edu	37	17	73843574	73843574	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:73843574G>A	ENST00000591399.1	-	7	1073	c.649C>T	c.(649-651)Cct>Tct	p.P217S	WBP2_ENST00000585462.1_Missense_Mutation_p.P195S|WBP2_ENST00000590221.1_Missense_Mutation_p.P213S|WBP2_ENST00000344296.4_Missense_Mutation_p.P195S|WBP2_ENST00000433525.2_Missense_Mutation_p.P172S|WBP2_ENST00000254806.3_Missense_Mutation_p.P217S			Q969T9	WBP2_HUMAN	WW domain binding protein 2	217	Pro-rich.						protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCACCTGCAGGAGTGGAGGGG	0.677000													8	2					0	0	0.006214	0	0
C9	735	broad.mit.edu	37	5	39289047	39289047	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:39289047G>A	ENST00000263408.4	-	10	1518	c.1423C>T	c.(1423-1425)Cct>Tct	p.P475S		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	475	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTATATATAGGAGACAGCTGA	0.303000													10	17					0	0	0.008291	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610592	47610592	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:47610592G>A	ENST00000371891.3	+	9	1203	c.1172G>A	c.(1171-1173)aGa>aAa	p.R391K	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.R293K|CYP4A22_ENST00000294337.3_Missense_Mutation_p.R391K	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	391						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGCATTGGAAGAGAGCTCAGC	0.577000													13	26					0	0	0.007413	0	0
ZNF45	7596	broad.mit.edu	37	19	44418226	44418226	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:44418226G>A	ENST00000269973.5	-	10	2452	c.1362C>T	c.(1360-1362)agC>agT	p.S454S	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Silent_p.S454S	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	454					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TTGAGGCCTGGCTGAAGCCCT	0.478000													12	35					0	0	0.002450	0	0
TRAV13-2	28670	broad.mit.edu	37	14	22386364	22386364	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:22386364G>A	ENST00000390439.2	+	0	2																											AGGAATACCCGATGATGGAAG	0.388000													17	40					0	0	0.004990	0	0
KLHL14	57565	broad.mit.edu	37	18	30321904	30321904	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:30321904C>T	ENST00000359358.4	-	3	1494	c.1056G>A	c.(1054-1056)tgG>tgA	p.W352*	KLHL14_ENST00000358095.4_Nonsense_Mutation_p.W352*	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	352						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TGAGTATTTTCCATGTCTTCT	0.393000													7	13					0	0	0.001984	0	0
TBX18	9096	broad.mit.edu	37	6	85446756	85446756	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:85446756C>T	ENST00000369663.5	-	8	1808	c.1471G>A	c.(1471-1473)Gga>Aga	p.G491R	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	491					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGGGACATTCCCGAAATCTGC	0.532000													49	114					0	0	0.014410	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95513801	95513801	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:95513801C>T	ENST00000432432.2	-	0	810					NR_040113.1																						TTCTGCATCTCGTCCACACAT	0.358000													45	469					0	0	0.014410	0	0
SERPINB12	89777	broad.mit.edu	37	18	61228387	61228387	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:61228387G>A	ENST00000382768.1	+	4	514	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	SERPINB12_ENST00000269491.1_Missense_Mutation_p.E152K			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	152					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AAAAAACCCTGAAAAATCCAG	0.373000													18	45					0	0	0.006122	0	0
FAM129C	199786	broad.mit.edu	37	19	17653061	17653061	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:17653061G>A	ENST00000335393.4	+	11	1518	c.1380G>A	c.(1378-1380)ggG>ggA	p.G460G	FAM129C_ENST00000332386.5_Silent_p.G460G|FAM129C_ENST00000300971.2_Silent_p.G460G|FAM129C_ENST00000601861.1_Silent_p.G429G|FAM129C_ENST00000449408.2_Silent_p.G186G|FAM129C_ENST00000599164.1_Silent_p.G429G|FAM129C_ENST00000600871.1_Silent_p.G406G|FAM129C_ENST00000595684.1_Silent_p.G460G|FAM129C_ENST00000352727.3_Silent_p.G460G|FAM129C_ENST00000599124.1_Silent_p.G429G	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	460										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GCTTTCTGGGGATGCAGAGCC	0.637000													74	120					0	0	0.014410	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83319290	83319290	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:83319290G>A	ENST00000262752.2	-	22	2240	c.2233C>T	c.(2233-2235)Ctg>Ttg	p.L745L	RPS6KA6_ENST00000543399.1_Silent_p.L745L	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	745					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.L745L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AAATCTTACAGGCCAGTTGAT	0.448000													8	3					0	0	0.003080	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962340	73962340	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:73962340G>A	ENST00000373468.1	-	3	2703	c.2052C>T	c.(2050-2052)agC>agT	p.S684S	KIAA2022_ENST00000055682.5_Silent_p.S684S			Q5QGS0	K2022_HUMAN	KIAA2022	684					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						CATTTGCACAGCTAGGAGCAC	0.448000													17	5					0	0	0.004007	0	0
KLK5	25818	broad.mit.edu	37	19	51452009	51452009	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:51452009G>A	ENST00000336334.3	-	5	965	c.613C>T	c.(613-615)Cag>Tag	p.Q205*	KLK5_ENST00000593428.1_Nonsense_Mutation_p.Q205*|KLK5_ENST00000391809.2_Nonsense_Mutation_p.Q205*	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	205	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TTCAAGCACTGGAGGACCTTA	0.502000													8	59					0	0	0.003080	0	0
NUDCD1	84955	broad.mit.edu	37	8	110255463	110255463	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:110255463G>A	ENST00000239690.4	-	10	1901	c.1527C>T	c.(1525-1527)gcC>gcT	p.A509A	NUDCD1_ENST00000427660.2_Silent_p.A480A	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	509								p.A509A(1)		breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			ACTCACAAAGGGCTGCATACG	0.438000													42	128					0	0	0.006999	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555701	155555701	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:155555701C>T	ENST00000295101.2	+	1	891	c.414C>T	c.(412-414)atC>atT	p.I138I	KCNJ3_ENST00000544049.1_Silent_p.I138I	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	138					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TCTTCTTCATCGAGACGGAGG	0.567000													6	25					0	0	0.001168	0	0
MICALL2	79778	broad.mit.edu	37	7	1482016	1482016	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:1482016A>G	ENST00000297508.7	-	7	1698	c.1523T>C	c.(1522-1524)cTt>cCt	p.L508P	MICALL2_ENST00000405088.4_Missense_Mutation_p.L296P	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	508						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		AGGGAGGCCAAGCACCCGGGG	0.632000													70	130					0	0	0.014410	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48585988	48585988	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:48585988C>T	ENST00000323776.5	+	1	244	c.82C>T	c.(82-84)Ctc>Ttc	p.L28F	MYCBPAP_ENST00000419930.1_Missense_Mutation_p.L28F|MYCBPAP_ENST00000436259.2_5'UTR	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	0					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GCCTCGGTGTCTCTGGGCCGG	0.657000													4	1					0	0	0.009096	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724669	7724669	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:7724669G>A	ENST00000303635.7	+	9	2269	c.2062G>A	c.(2062-2064)Ggg>Agg	p.G688R	CAMTA1_ENST00000439411.2_Missense_Mutation_p.G688R	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	688					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GACGGCAGAAGGGGAGGTCAC	0.637000			T	WWTR1	epitheliod hemangioendothelioma								25	45					0	0	0.003954	0	0
CCDC88C	440193	broad.mit.edu	37	14	91760556	91760556	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:91760556T>A	ENST00000389857.6	-	23	4159	c.4073A>T	c.(4072-4074)gAg>gTg	p.E1358V		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1358					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTCCTTGTTCTCCATGTTCTG	0.542000													53	86					0	0	0.014410	0	0
MUC17	140453	broad.mit.edu	37	7	100683171	100683171	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100683171C>A	ENST00000306151.4	+	3	8538	c.8474C>A	c.(8473-8475)tCt>tAt	p.S2825Y		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2825	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGGCCAGTTCTGAGGCTGGC	0.493000													82	152					3.77845e-26	4.15181e-26	0.014410	1	0
CSMD1	64478	broad.mit.edu	37	8	3165891	3165891	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:3165891G>A	ENST00000520002.1	-	25	4324	c.3769C>T	c.(3769-3771)Ctg>Ttg	p.L1257L	CSMD1_ENST00000602557.1_Silent_p.L1257L|CSMD1_ENST00000542608.1_Silent_p.L1256L|CSMD1_ENST00000400186.3_Silent_p.L1257L|CSMD1_ENST00000602723.1_Silent_p.L1257L|CSMD1_ENST00000539096.1_Silent_p.L1256L|CSMD1_ENST00000537824.1_Silent_p.L1256L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1257	Sushi 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAACAGGTCAGGGTGTTGCTG	0.527000													9	15					0	0	0.004482	0	0
ZNF815P	401303	broad.mit.edu	37	7	5879594	5879594	+	RNA	SNP	C	C	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:5879594C>G	ENST00000421890.1	+	0	527																											CACTGTCATTCGGGGACGTGG	0.567000													4	4					0	0	0.009096	0	0
PPP1R3F	89801	broad.mit.edu	37	X	49143278	49143278	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:49143278C>T	ENST00000055335.6	+	4	2142	c.2126C>T	c.(2125-2127)cCc>cTc	p.P709L	PPP1R3F_ENST00000495799.1_Missense_Mutation_p.P363L|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.P380L|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.P363L|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.P363L	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	709						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CTCCTCAGTCCCTTGGGGGCC	0.587000													5	4					0	0	0.000602	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962509	73962509	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:73962509C>T	ENST00000373468.1	-	3	2534	c.1883G>A	c.(1882-1884)cGa>cAa	p.R628Q	KIAA2022_ENST00000055682.5_Missense_Mutation_p.R628Q			Q5QGS0	K2022_HUMAN	KIAA2022	628					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						TTTAGATTTTCGTTTGCGAGC	0.418000													8	6					0	0	0.003080	0	0
KRT28	162605	broad.mit.edu	37	17	38950184	38950184	+	Missense_Mutation	SNP	C	C	T	rs144664854	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:38950184C>T	ENST00000306658.7	-	6	1158	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	365	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CCCTCGGTCTCGGTTCTGACC	0.567000													26	131					0	0	0.005443	0	0
CILP	8483	broad.mit.edu	37	15	65495794	65495794	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:65495794C>T	ENST00000261883.4	-	7	1100	c.934G>A	c.(934-936)Gtg>Atg	p.V312M		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	312	Ig-like C2-type.				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GGGTTCATCACCATGTATGGA	0.502000													9	25					0	0	0.004482	0	0
TRANK1	9881	broad.mit.edu	37	3	36874402	36874402	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:36874402C>T	ENST00000429976.2	-	21	6787	c.6540G>A	c.(6538-6540)tcG>tcA	p.S2180S	TRANK1_ENST00000428977.2_Silent_p.S1630S|TRANK1_ENST00000301807.6_Silent_p.S1630S			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2180					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGTTCATTTTCGACTGAACTA	0.378000													7	17					0	0	0.001984	0	0
KSR2	283455	broad.mit.edu	37	12	118105313	118105313	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:118105313G>A	ENST00000425217.1	-	5	1104	c.1050C>T	c.(1048-1050)acC>acT	p.T350T	KSR2_ENST00000302438.5_Silent_p.T76T|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Silent_p.T379T	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	379					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAACAGGAGGGGTGGAAGGCA	0.632000													8	6					0	0	0.003080	0	0
MCM5	4174	broad.mit.edu	37	22	35799484	35799484	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:35799484C>T	ENST00000216122.4	+	4	526	c.372C>T	c.(370-372)atC>atT	p.I124I	CTA-286B10.7_ENST00000417343.1_RNA|MCM5_ENST00000382011.5_Intron	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	124					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						TCCAGGACATCCAGGTCATGC	0.632000													13	92					0	0	0.002450	0	0
SYNE1	23345	broad.mit.edu	37	6	152831412	152831412	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:152831412G>A	ENST00000367255.5	-	8	1098	c.497C>T	c.(496-498)cCa>cTa	p.P166L	SYNE1_ENST00000341594.5_Missense_Mutation_p.P166L|SYNE1_ENST00000367253.4_Missense_Mutation_p.P166L|SYNE1_ENST00000413186.2_Missense_Mutation_p.P166L|SYNE1_ENST00000448038.1_Missense_Mutation_p.P173L|SYNE1_ENST00000367248.3_Missense_Mutation_p.P173L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P173L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P166L|SYNE1_ENST00000466159.2_Missense_Mutation_p.P166L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	166	Actin-binding.				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)		TTTACTTGGTGGGCTGGGAGT	0.488000										HNSCC(10;0.0054)			23	60					0	0	0.014323	0	0
KCNT1	57582	broad.mit.edu	37	9	138683979	138683979	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:138683979C>T	ENST00000298480.5	+	32	3817	c.3743C>T	c.(3742-3744)cCc>cTc	p.P1248L	KCNT1_ENST00000488444.2_Missense_Mutation_p.P1227L|KCNT1_ENST00000263604.3_Missense_Mutation_p.P1222L|KCNT1_ENST00000490355.2_Missense_Mutation_p.P1226L|KCNT1_ENST00000371757.2_Missense_Mutation_p.P1227L|KCNT1_ENST00000487664.1_Missense_Mutation_p.P1203L|KCNT1_ENST00000486577.2_Missense_Mutation_p.P1205L|KCNT1_ENST00000491806.2_Missense_Mutation_p.P1213L			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	1227						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TCCTGCAACCCCGAGACTCGC	0.667000													5	11					0	0	0.000602	0	0
RUNDC3A	10900	broad.mit.edu	37	17	42389994	42389994	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:42389994G>A	ENST00000426726.3	+	2	428	c.154G>A	c.(154-156)Gat>Aat	p.D52N	RUNDC3A_ENST00000590941.1_Missense_Mutation_p.D52N|RUNDC3A_ENST00000225441.7_Missense_Mutation_p.D52N|AC003102.3_ENST00000588097.1_RNA	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	52	Interaction with RAP2A (By similarity).|RUN.				small GTPase mediated signal transduction		small GTPase regulator activity			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GGAGCCCATCGATGACTCATC	0.597000													5	2					0	0	0.001984	0	0
LIPF	8513	broad.mit.edu	37	10	90427138	90427138	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:90427138C>T	ENST00000394375.3	+	3	227	c.114C>T	c.(112-114)agC>agT	p.S38S	LIPF_ENST00000238983.4_Silent_p.S28S|LIPF_ENST00000355843.2_Silent_p.S28S	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	28					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		ATCCTGGAAGCCCTGAAGTGA	0.338000													7	28					0	0	0.003080	0	0
TRIM51	84767	broad.mit.edu	37	11	55653172	55653172	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:55653172G>A	ENST00000449290.2	+	2	360	c.268G>A	c.(268-270)Gag>Aag	p.E90K		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	90						intracellular	zinc ion binding										TAGCTCTGAGGAGCAAATATG	0.493000													9	11					0	0	0.006214	0	0
HMCN1	83872	broad.mit.edu	37	1	186017874	186017874	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:186017874G>A	ENST00000271588.4	+	42	6709		c.e42-1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						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						TTTGTTTTCAGATTGAAGATG	0.313000													23	29					0	0	0.004656	0	0
MAP3K4	4216	broad.mit.edu	37	6	161529837	161529837	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:161529837C>T	ENST00000392142.4	+	22	4330	c.4182C>T	c.(4180-4182)ttC>ttT	p.F1394F	MAP3K4_ENST00000366920.2_Silent_p.F1390F|MAP3K4_ENST00000348824.7_Silent_p.F1340F|MAP3K4_ENST00000366919.2_Silent_p.F1344F	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1394	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TGAAAATATTCGAAGGCATCA	0.423000													25	73					0	0	0.007291	0	0
SLC22A8	9376	broad.mit.edu	37	11	62766457	62766457	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:62766457G>A	ENST00000336232.2	-	5	832	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S	SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000430500.2_Missense_Mutation_p.P233S|SLC22A8_ENST00000535878.1_Missense_Mutation_p.P110S|SLC22A8_ENST00000311438.8_Missense_Mutation_p.P233S|SLC22A8_ENST00000545207.1_Missense_Mutation_p.P142S	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	233					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						CGCCACTGGGGGATGGCGTAG	0.567000													8	40					0	0	0.004482	0	0
MATN3	4148	broad.mit.edu	37	2	20194161	20194161	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:20194161T>G	ENST00000407540.3	-	7	1366	c.1304A>C	c.(1303-1305)gAa>gCa	p.E435A	AC079145.4_ENST00000416575.1_RNA|MATN3_ENST00000421259.2_Missense_Mutation_p.E393A	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	435					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTCGTGCTTCCTCAGTGGC	0.398000													11	9					0	0	0.008291	0	0
F13B	2165	broad.mit.edu	37	1	197009650	197009650	+	Splice_Site	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:197009650A>C	ENST00000367412.1	-	11	1996		c.e11+1		F13B_ENST00000490002.1_Splice_Site	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide						blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						AAAACTTCTTACCTTTGTCTT	0.299000													14	24					0	0	0.001855	0	0
CLCNKA	1187	broad.mit.edu	37	1	16353031	16353031	+	Splice_Site	SNP	G	G	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:16353031G>T	ENST00000375692.1	+	7	627	c.498_splice	c.e7-1	p.G167_splice	CLCNKA_ENST00000331433.4_Splice_Site_p.G167_splice|CLCNKA_ENST00000439316.2_Splice_Site_p.G124_splice|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Splice_Site_p.G167_splice			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	167					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)	CCCTCTGCAGGGCCCTTTCGT	0.657000													10	54					6.40141e-05	6.9389e-05	0.010729	1	0
GPR107	57720	broad.mit.edu	37	9	132862932	132862932	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:132862932C>T	ENST00000372406.1	+	11	1471	c.964C>T	c.(964-966)Cag>Tag	p.Q322*	GPR107_ENST00000347136.6_Nonsense_Mutation_p.Q322*|GPR107_ENST00000372410.3_Nonsense_Mutation_p.Q322*	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	322						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CATCTCCTCCCAGGGCTTCCC	0.418000													19	55					0	0	0.002780	0	0
PRODH2	58510	broad.mit.edu	37	19	36290945	36290945	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:36290945G>A	ENST00000301175.3	-	11	1623	c.1606C>T	c.(1606-1608)Cac>Tac	p.H536Y		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	536					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGTGCTAGTGGGGTATCCTT	0.622000													6	16					0	0	0.001984	0	0
PALMD	54873	broad.mit.edu	37	1	100154504	100154504	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:100154504G>A	ENST00000263174.4	+	7	1063	c.688G>A	c.(688-690)Ggc>Agc	p.G230S	PALMD_ENST00000605497.1_Missense_Mutation_p.G230S	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	230					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		AGCATACAATGGCACCGATGG	0.428000													39	86					0	0	0.006999	0	0
POP4	10775	broad.mit.edu	37	19	30104821	30104821	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:30104821C>T	ENST00000585603.1	+	6	2770	c.468C>T	c.(466-468)atC>atT	p.I156I	POP4_ENST00000221770.3_Silent_p.I32I|POP4_ENST00000392279.3_Silent_p.I75I|POP4_ENST00000591824.1_3'UTR			O95707	RPP29_HUMAN	processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)	156					mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease P activity|RNA binding			breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			TTACAGGAATCCTTCTACAGG	0.473000													13	40					0	0	0.003163	0	0
PALD1	27143	broad.mit.edu	37	10	72298652	72298652	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:72298652A>C	ENST00000263563.6	+	13	1725	c.1457A>C	c.(1456-1458)gAg>gCg	p.E486A		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		CCACAGCGGGAGGACGATCTG	0.677000													6	25					0	0	0.001984	0	0
SNRPA	6626	broad.mit.edu	37	19	41269505	41269505	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:41269505C>T	ENST00000243563.3	+	5	1164	c.614C>T	c.(613-615)cCa>cTa	p.P205L		NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	205	Pro-rich.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCTGAGAATCCACCGAATCAC	0.562000													25	80					0	0	0.005443	0	0
KRT78	196374	broad.mit.edu	37	12	53239986	53239986	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:53239986C>T	ENST00000359499.4	-	4	432	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	KRT78_ENST00000304620.4_Missense_Mutation_p.E251K			Q8N1N4	K2C78_HUMAN	keratin 78	251	Coil 1A.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CTCACTTCTTCATTCAGATGC	0.547000													13	9					0	0	0.013537	0	0
GCN1L1	10985	broad.mit.edu	37	12	120576637	120576637	+	Silent	SNP	G	G	A	rs61733796	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:120576637G>A	ENST00000300648.6	-	46	6030	c.6018C>T	c.(6016-6018)ctC>ctT	p.L2006L		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2006					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGTGGGCACGAGGGATTCAG	0.557000													64	47					0	0	0.014410	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480965	140480965	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140480965G>A	ENST00000231130.2	+	1	732	c.732G>A	c.(730-732)caG>caA	p.Q244Q	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		244					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATTTGCACAGCCGCTCTATG	0.507000													17	52					0	0	0.004990	0	0
SIX1	6495	broad.mit.edu	37	14	61115468	61115468	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:61115468G>C	ENST00000247182.6	-	1	712	c.440C>G	c.(439-441)cCc>cGc	p.P147R	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	147					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CGATGGGTAGGGATTGTGCGC	0.627000													7	21					0	0	0.003080	0	0
WFDC12	128488	broad.mit.edu	37	20	43752764	43752764	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:43752764C>T	ENST00000372785.3	-	2	239	c.222G>A	c.(220-222)gtG>gtA	p.V74V		NM_080869.1	NP_543145.1	Q8WWY7	WFD12_HUMAN	WAP four-disulfide core domain 12	74	WAP.				defense response to bacterium	extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6		Myeloproliferative disorder(115;0.0122)				CCAGTTCCTTCACAGGAATCA	0.542000													13	17					0	0	0.013537	0	0
AMPD1	270	broad.mit.edu	37	1	115215745	115215745	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:115215745G>A	ENST00000369538.3	-	15	2368	c.2321C>T	c.(2320-2322)tCa>tTa	p.S774L	AMPD1_ENST00000520113.2_Missense_Mutation_p.S778L|AMPD1_ENST00000353928.6_Missense_Mutation_p.S745L	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	745					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TTATTCTGTTGATTTAAGACC	0.333000													6	13					0	0	0.001168	0	0
IQCF1	132141	broad.mit.edu	37	3	51929158	51929158	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:51929158G>A	ENST00000310914.5	-	4	428	c.366C>T	c.(364-366)tcC>tcT	p.S122S		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	122										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACTCCTTCCGGGAGAAGGCCT	0.607000													9	74					0	0	0.006214	0	0
SLC28A1	9154	broad.mit.edu	37	15	85461766	85461766	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:85461766C>T	ENST00000394573.1	+	10	1009	c.807C>T	c.(805-807)atC>atT	p.I269I	SLC28A1_ENST00000537624.1_Silent_p.I269I|SLC28A1_ENST00000537216.1_Silent_p.I269I|SLC28A1_ENST00000537703.1_Silent_p.I191I|SLC28A1_ENST00000286749.3_Silent_p.I269I|SLC28A1_ENST00000538177.1_Silent_p.I269I	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	269					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTCTGCCCATCATTGTCTTTT	0.597000													18	81					0	0	0.010504	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060385	35060385	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:35060385C>T	ENST00000373913.3	+	3	745	c.265C>T	c.(265-267)Ccc>Tcc	p.P89S	DLGAP4_ENST00000339266.5_Missense_Mutation_p.P89S|DLGAP4_ENST00000401952.2_Missense_Mutation_p.P89S|DLGAP4_ENST00000373907.2_Missense_Mutation_p.P89S			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	89					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GAGCCCCTTCCCCAGCCATGC	0.627000													16	30					0	0	0.003163	0	0
COL12A1	1303	broad.mit.edu	37	6	75857400	75857400	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:75857400C>T	ENST00000322507.8	-	23	4717	c.4408G>A	c.(4408-4410)Gaa>Aaa	p.E1470K	COL12A1_ENST00000483888.2_Missense_Mutation_p.E1470K|COL12A1_ENST00000345356.6_Missense_Mutation_p.E306K|COL12A1_ENST00000416123.2_Missense_Mutation_p.E1470K	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1470	Fibronectin type-III 9.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAGGTTTTTTCTGTCCCCTTC	0.363000													13	83					0	0	0.002450	0	0
MOG	4340	broad.mit.edu	37	6	29638549	29638549	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:29638549G>A	ENST00000376894.4	+	7	899	c.781G>A	c.(781-783)Gag>Aag	p.E261K	MOG_ENST00000483013.1_Intron|MOG_ENST00000376898.3_Intron|MOG_ENST00000376891.4_Intron|MOG_ENST00000376888.2_Intron|MOG_ENST00000416766.2_Intron|MOG_ENST00000376917.3_Intron|MOG_ENST00000490427.1_Intron|MOG_ENST00000396701.2_Intron|MOG_ENST00000494692.1_Intron|MOG_ENST00000376902.3_Intron|MOG_ENST00000533330.2_Intron|MOG_ENST00000396704.3_Intron|MOG_ENST00000431798.2_Intron			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	0					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CCAGGAAAGGGAGACAGAAGC	0.468000													7	9					0	0	0.001984	0	0
PTH2R	5746	broad.mit.edu	37	2	209353869	209353869	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:209353869C>T	ENST00000272847.2	+	11	1422	c.1209C>T	c.(1207-1209)tcC>tcT	p.S403S	PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	403						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TCTTCAACTCCTTTCAGGTAA	0.468000													18	31					0	0	0.007413	0	0
SYT3	84258	broad.mit.edu	37	19	51133407	51133407	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:51133407G>A	ENST00000338916.4	-	3	1329	c.696C>T	c.(694-696)ccC>ccT	p.P232P	SYT3_ENST00000593901.1_Silent_p.P232P|SYT3_ENST00000600079.1_Silent_p.P232P|SYT3_ENST00000544769.1_Silent_p.P232P	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	232						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GCTGGGTGAGGGGTCGGGGCA	0.647000													10	14					0	0	0.008291	0	0
EPHA3	2042	broad.mit.edu	37	3	89456471	89456471	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:89456471G>A	ENST00000336596.2	+	8	1872	c.1647G>A	c.(1645-1647)gcG>gcA	p.A549A	EPHA3_ENST00000494014.1_Silent_p.A549A	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	549						extracellular region|integral to plasma membrane	ATP binding	p.A549A(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCATTTCAGCGGCAGTAGCAA	0.398000										TSP Lung(6;0.00050)			26	27					0	0	0.012213	0	0
IGHV2-5	28457	broad.mit.edu	37	14	106494363	106494363	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:106494363G>A	ENST00000390597.2	-	0	148																											AGAACCCAGAGAAGGTGCAGG	0.557000													17	23					0	0	0.004990	0	0
RHOT2	89941	broad.mit.edu	37	16	720927	720927	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:720927C>T	ENST00000315082.4	+	10	789	c.675C>T	c.(673-675)gcC>gcT	p.A225A	RHOT2_ENST00000569943.2_3'UTR	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	225					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CCCCGCAGGCCCTGGAGGACG	0.677000													11	13					0	0	0.010729	0	0
NFIL3	4783	broad.mit.edu	37	9	94172655	94172655	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:94172655G>A	ENST00000297689.3	-	2	756	c.362C>T	c.(361-363)tCa>tTa	p.S121L		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	121	Leucine-zipper.				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TAATTTTAGTGAAAGCAGCTC	0.383000													20	54					0	0	0.007413	0	0
EZR	7430	broad.mit.edu	37	6	159206478	159206478	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:159206478G>A	ENST00000367075.3	-	5	498	c.330C>T	c.(328-330)atC>atT	p.I110I	EZR_ENST00000476189.1_5'UTR|EZR_ENST00000337147.7_Silent_p.I110I|EZR_ENST00000392177.4_Silent_p.I78I	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	110	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		CATCGCTAAGGATTCCTTCCT	0.522000			T	ROS1	NSCLC								15	39					0	0	0.003163	0	0
RAP1A	5906	broad.mit.edu	37	1	112240080	112240080	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:112240080C>T	ENST00000369709.3	+	4	323	c.144C>T	c.(142-144)tgC>tgT	p.C48C	RAP1A_ENST00000545460.1_Silent_p.C48C|RAP1A_ENST00000494982.1_3'UTR|RAP1A_ENST00000356415.1_Silent_p.C48C|RAP1A_ENST00000436150.2_Silent_p.C48C	NM_002884.2	NP_002875.1	P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family	48					activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion	cytosol|plasma membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		AAGTCGATTGCCAACAGTGTA	0.373000													10	72					0	0	0.010729	0	0
CTNND2	1501	broad.mit.edu	37	5	11111000	11111000	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:11111000C>T	ENST00000304623.8	-	14	2622	c.2433G>A	c.(2431-2433)aaG>aaA	p.K811K	CTNND2_ENST00000503622.1_Silent_p.K474K|CTNND2_ENST00000511377.1_Silent_p.K720K|CTNND2_ENST00000458100.2_Silent_p.K378K|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.K811K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	811	Poly-Lys.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCTTCTTCTTCTTGCCCCAGC	0.512000													53	154					0	0	0.014410	0	0
DENND2A	27147	broad.mit.edu	37	7	140301735	140301735	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:140301735C>T	ENST00000275884.6	-	2	880	c.463G>A	c.(463-465)Gat>Aat	p.D155N	DENND2A_ENST00000496613.1_Missense_Mutation_p.D155N|DENND2A_ENST00000492720.1_Missense_Mutation_p.D155N|DENND2A_ENST00000537639.1_Missense_Mutation_p.D155N			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	155										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GAGAGGGGATCGTTCTGAAAG	0.602000													28	53					0	0	0.004656	0	0
SH3RF2	153769	broad.mit.edu	37	5	145442197	145442197	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:145442197C>T	ENST00000511217.1	+	9	2175	c.2123C>T	c.(2122-2124)gCt>gTt	p.A708V	SH3RF2_ENST00000359120.4_Missense_Mutation_p.A708V|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	708							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAAAGTCAGCTCTTGGCAAG	0.592000													9	35					0	0	0.004482	0	0
FCER1A	2205	broad.mit.edu	37	1	159277696	159277696	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:159277696C>T	ENST00000368115.1	+	6	847	c.748C>T	c.(748-750)Cct>Tct	p.P250S	FCER1A_ENST00000368114.1_Missense_Mutation_p.P217S	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	250						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GAACCCACATCCTAAGCCAAA	0.383000													7	28					0	0	0.001984	0	0
NACA	4666	broad.mit.edu	37	12	57111841	57111841	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:57111841G>A	ENST00000454682.1	-	3	3754	c.3473C>T	c.(3472-3474)tCc>tTc	p.S1158F	NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TCCTTTTGGGGAAGGAGGAGT	0.627000			T	BCL6	NHL								55	60					0	0	0.014410	0	0
ANK1	286	broad.mit.edu	37	8	41566470	41566470	+	Silent	SNP	G	G	A	rs144904116	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:41566470G>A	ENST00000396942.1	-	17	1907	c.1824C>T	c.(1822-1824)atC>atT	p.I608I	ANK1_ENST00000352337.4_Silent_p.I608I|ANK1_ENST00000379758.2_Silent_p.I608I|ANK1_ENST00000347528.4_Silent_p.I608I|ANK1_ENST00000289734.7_Silent_p.I608I|ANK1_ENST00000265709.8_Silent_p.I641I|ANK1_ENST00000396945.1_Silent_p.I608I			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	608	89 kDa 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)			GCTTGGCAGCGATGTGCAAAG	0.577000													13	28					0	0	0.001855	0	0
LINC00922	283867	broad.mit.edu	37	16	65345409	65345409	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:65345409C>T	ENST00000569736.1	-	0	726				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1																						ATGAACACTTCCTGCATGTGC	0.483000													34	129					0	0	0.004289	0	0
ZNF831	128611	broad.mit.edu	37	20	57771038	57771038	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:57771038A>T	ENST00000371030.2	+	2	3853	c.3853A>T	c.(3853-3855)Aaa>Taa	p.K1285*		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1285						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CAAGCAGAGAAAACTGAAGAT	0.498000													39	60					0	0	0.006230	0	0
DHX29	54505	broad.mit.edu	37	5	54579186	54579186	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:54579186G>A	ENST00000251636.5	-	11	1958	c.1810C>T	c.(1810-1812)Cag>Tag	p.Q604*	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	604	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TGTGGTACCTGAGTACTTTTA	0.418000													24	43					0	0	0.014323	0	0
FASTKD2	22868	broad.mit.edu	37	2	207655359	207655359	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:207655359C>T	ENST00000236980.6	+	11	2310	c.1962C>T	c.(1960-1962)ttC>ttT	p.F654F	FASTKD2_ENST00000403094.3_Silent_p.F654F|FASTKD2_ENST00000402774.3_Silent_p.F654F	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	654	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		CCAGAGGATTCCTTGCTATGA	0.353000													62	94					0	0	0.014410	0	0
NCOA2	10499	broad.mit.edu	37	8	71069324	71069324	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:71069324G>A	ENST00000452400.2	-	11	1457	c.1276C>T	c.(1276-1278)Ccc>Tcc	p.P426S	NCOA2_ENST00000524223.1_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	426					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CCATTTATGGGAAAATTTATA	0.517000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								7	27					0	0	0.003080	0	0
RFTN1	23180	broad.mit.edu	37	3	16419226	16419226	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:16419226C>T	ENST00000334133.4	-	5	1097	c.826_splice	c.e5+1	p.G275_splice	RFTN1_ENST00000432519.1_Splice_Site_p.G239_splice	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	275						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CATACTTACTCCCTGAGAGTG	0.483000													14	61					0	0	0.006122	0	0
LAMB1	3912	broad.mit.edu	37	7	107616285	107616285	+	Silent	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:107616285A>G	ENST00000393561.1	-	8	1294	c.1110T>C	c.(1108-1110)ttT>ttC	p.F370F	LAMB1_ENST00000393560.1_Silent_p.F346F|LAMB1_ENST00000222399.6_Silent_p.F346F			P07942	LAMB1_HUMAN	laminin, beta 1	346	Laminin EGF-like 2.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGCCATGTCAAAGTGACAAG	0.507000													9	30					0	0	0.004482	0	0
ABCA12	26154	broad.mit.edu	37	2	215872484	215872484	+	Silent	SNP	G	G	A	rs142281650		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:215872484G>A	ENST00000272895.7	-	19	2778	c.2559C>T	c.(2557-2559)ttC>ttT	p.F853F	ABCA12_ENST00000389661.4_Silent_p.F535F	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	853					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTAACAGATGGAAGGAATTCA	0.378000													14	36					0	0	0.003163	0	0
MROH2B	133558	broad.mit.edu	37	5	41052574	41052574	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:41052574C>T	ENST00000399564.4	-	12	1673	c.1223G>A	c.(1222-1224)aGg>aAg	p.R408K	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TACCAGATTCCTGTTCAACGT	0.388000													7	66					0	0	0.004482	0	0
ZEB1	6935	broad.mit.edu	37	10	31810601	31810601	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:31810601G>C	ENST00000446923.2	+	7	2681	c.2290G>C	c.(2290-2292)Gac>Cac	p.D764H	ZEB1_ENST00000320985.10_Missense_Mutation_p.D780H|ZEB1_ENST00000361642.5_Missense_Mutation_p.D781H|ZEB1_ENST00000542815.3_Missense_Mutation_p.D713H|ZEB1_ENST00000560721.2_Missense_Mutation_p.D760H|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	780					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GCCACAAAAGGACAGTTGTGT	0.428000													9	21					0	0	0.008291	0	0
THBS4	7060	broad.mit.edu	37	5	79363879	79363879	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:79363879C>T	ENST00000350881.2	+	10	1468	c.1278C>T	c.(1276-1278)aaC>aaT	p.N426N	THBS4_ENST00000511733.1_Silent_p.N335N|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	426	EGF-like 4.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ACTGCAGAAACCCAGAGCTGA	0.483000													8	52					0	0	0.004482	0	0
TSPAN33	340348	broad.mit.edu	37	7	128807381	128807381	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:128807381C>G	ENST00000289407.4	+	7	839	c.730C>G	c.(730-732)Cta>Gta	p.L244V		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	244						integral to membrane				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TGGTGTGGCTCTAGGCCTGGC	0.493000													4	137					0	0	0.009096	0	0
ZNF319	57567	broad.mit.edu	37	16	58031774	58031774	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:58031774G>A	ENST00000299237.2	-	2	1018	c.396C>T	c.(394-396)ttC>ttT	p.F132F		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CCCCACAGACGAAGGGCTTCT	0.572000													17	41					0	0	0.006122	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092726	151092726	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:151092726T>A	ENST00000370340.3	+	3	857	c.590T>A	c.(589-591)tTt>tAt	p.F197Y	MAGEA4_ENST00000393921.1_Missense_Mutation_p.F197Y|MAGEA4_ENST00000276344.2_Missense_Mutation_p.F197Y|MAGEA4_ENST00000393920.1_Missense_Mutation_p.F197Y|MAGEA4_ENST00000370337.4_Missense_Mutation_p.F197Y|MAGEA4_ENST00000360243.2_Missense_Mutation_p.F197Y|MAGEA4_ENST00000370335.1_Missense_Mutation_p.F197Y			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	197	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AATCAGATCTTTCCCAAGACA	0.562000													12	50					0	0	0.010729	0	0
HIST1H2BK	85236	broad.mit.edu	37	6	27114472	27114472	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:27114472C>T	ENST00000396891.4	-	1	147	c.106G>A	c.(106-108)Gag>Aag	p.E36K	HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.E36K	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	36					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GAGTAGCTCTCCTTGCGGCTG	0.587000													23	150					0	0	0.007291	0	0
CFH	3075	broad.mit.edu	37	1	196694352	196694352	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:196694352G>A	ENST00000367429.4	+	12	2038	c.1798G>A	c.(1798-1800)Gga>Aga	p.G600R		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	600	Sushi 10.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTGCAAACCAGGATTTACAAT	0.398000													14	30					0	0	0.003163	0	0
LAMA2	3908	broad.mit.edu	37	6	129663546	129663546	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:129663546G>A	ENST00000421865.2	+	30	4419	c.4370G>A	c.(4369-4371)gGa>gAa	p.G1457E		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1457	Laminin EGF-like 15.				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)		GGATACTATGGAATTGTCAAG	0.388000													30	56					0	0	0.012213	0	0
FRMD1	79981	broad.mit.edu	37	6	168458013	168458013	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:168458013C>T	ENST00000283309.6	-	11	1478	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	FRMD1_ENST00000440994.2_Missense_Mutation_p.E404K|FRMD1_ENST00000537786.1_Missense_Mutation_p.E243K|FRMD1_ENST00000432403.1_5'UTR	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	472						cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCTGTCATTTCCTGGATCTGC	0.662000													3	18					0	0	0.009096	0	0
C2orf40	84417	broad.mit.edu	37	2	106694260	106694260	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:106694260C>T	ENST00000409944.1	+	5	448	c.217C>T	c.(217-219)Cga>Tga	p.R73*	C2orf40_ENST00000238044.3_Nonsense_Mutation_p.R109*			Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	109						extracellular region|transport vesicle		p.R109R(1)		lung(7)|urinary_tract(1)	8						TAACAGAGATCGAAATGGACA	0.453000													21	58					0	0	0.003330	0	0
ECM1	1893	broad.mit.edu	37	1	150482192	150482192	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:150482192C>T	ENST00000369047.4	+	3	302	c.177C>T	c.(175-177)caC>caT	p.H59H	ECM1_ENST00000346569.6_Silent_p.H59H|ECM1_ENST00000369049.4_Silent_p.H59H|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	59					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCATGGATCACCCTGACTCCT	0.597000													31	51					0	0	0.013726	0	0
LILRA2	11027	broad.mit.edu	37	19	55086930	55086930	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55086930C>T	ENST00000251377.3	+	6	996	c.863C>T	c.(862-864)tCc>tTc	p.S288F	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.S276F|LILRA2_ENST00000391738.3_Missense_Mutation_p.S288F|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.S288F					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GTGAGCCCCTCCCACGGGGGC	0.647000													22	40					0	0	0.010504	0	0
MAPK4	5596	broad.mit.edu	37	18	48255619	48255619	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:48255619G>A	ENST00000400384.2	+	6	2195	c.1159G>A	c.(1159-1161)Gcg>Acg	p.A387T	MAPK4_ENST00000540640.1_Missense_Mutation_p.A176T|MAPK4_ENST00000592595.1_3'UTR	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	387					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CGCGGGTTCGGCGCCACTGGC	0.697000													6	22					0	0	0.001168	0	0
MUC16	94025	broad.mit.edu	37	19	9069097	9069097	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9069097C>T	ENST00000397910.4	-	3	18552	c.18349G>A	c.(18349-18351)Gat>Aat	p.D6117N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6119	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.D6117Y(2)|p.D1750Y(1)		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						AATGTAGGATCATAGTAGGTG	0.493000													8	17					0	0	0.004482	0	0
SYT5	6861	broad.mit.edu	37	19	55687180	55687180	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55687180G>A	ENST00000354308.3	-	5	806	c.437C>T	c.(436-438)cCc>cTc	p.P146L	SYT5_ENST00000590851.1_Missense_Mutation_p.P143L|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Missense_Mutation_p.P146L	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	146	C2 1.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCGCACATAGGGGTCCGAGGA	0.627000													21	51					0	0	0.010504	0	0
OR4K14	122740	broad.mit.edu	37	14	20483095	20483095	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:20483095G>A	ENST00000305045.2	-	1	257	c.258C>T	c.(256-258)ttC>ttT	p.F86F		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GATCACTAAGGAAATCCCTGA	0.507000													6	24					0	0	0.001984	0	0
DPY19L1	23333	broad.mit.edu	37	7	34982235	34982235	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:34982235G>A	ENST00000310974.4	-	17	1486	c.1342C>T	c.(1342-1344)Cat>Tat	p.H448Y		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	448						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						ACCTCTCCATGATCAAACTGG	0.318000													10	29					0	0	0.010729	0	0
C12orf36	283422	broad.mit.edu	37	12	13529258	13529258	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:13529258C>T	ENST00000318426.2	-	2	299	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	C12orf36_ENST00000531049.1_5'UTR|C12orf36_ENST00000527705.2_Missense_Mutation_p.E28K|C12orf36_ENST00000539026.1_Missense_Mutation_p.E28K|C12orf36_ENST00000532841.1_Missense_Mutation_p.E28K					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		gaagtgtcttcatcaggaaca	0.473000													7	11					0	0	0.001984	0	0
TBC1D1	23216	broad.mit.edu	37	4	38138951	38138951	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:38138951G>A	ENST00000261439.4	+	20	3857	c.3502G>A	c.(3502-3504)Gac>Aac	p.D1168N	TBC1D1_ENST00000508802.1_Missense_Mutation_p.D1159N|TBC1D1_ENST00000407365.1_3'UTR	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	1168						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GCCCACGGGCGACTGACAGCT	0.662000													13	11					0	0	0.002450	0	0
BIN1	274	broad.mit.edu	37	2	127821520	127821520	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:127821520G>A	ENST00000316724.5	-	8	1098	c.687C>T	c.(685-687)tcC>tcT	p.S229S	BIN1_ENST00000348750.4_Silent_p.S198S|BIN1_ENST00000376113.2_Silent_p.S198S|BIN1_ENST00000409400.1_Silent_p.S198S|BIN1_ENST00000351659.3_Silent_p.S229S|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000259238.4_Silent_p.S198S|BIN1_ENST00000357970.3_Silent_p.S229S|BIN1_ENST00000393040.3_Silent_p.S198S|BIN1_ENST00000352848.3_Silent_p.S198S|BIN1_ENST00000393041.3_Silent_p.S198S|BIN1_ENST00000346226.3_Silent_p.S198S	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	229	BAR.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGTTCCACAGGGACGGCAGCT	0.652000													8	42					0	0	0.003080	0	0
OR6F1	343169	broad.mit.edu	37	1	247875181	247875181	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:247875181G>A	ENST00000302084.2	-	1	924	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCCTTATTACGAAGCGTATAG	0.438000													10	85					0	0	0.001855	0	0
CGNL1	84952	broad.mit.edu	37	15	57730485	57730485	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:57730485G>A	ENST00000281282.5	+	2	366	c.288G>A	c.(286-288)gaG>gaA	p.E96E		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	96	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TGCCAAAGGAGAACAGTGAAG	0.498000													15	40					0	0	0.002450	0	0
CNBD1	168975	broad.mit.edu	37	8	88365873	88365873	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:88365873C>T	ENST00000518476.1	+	10	1213	c.1162C>T	c.(1162-1164)Caa>Taa	p.Q388*		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	388										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GAAAAGATCTCAAAAACTTGT	0.318000													10	30					0	0	0.013537	0	0
DPF2	5977	broad.mit.edu	37	11	65108524	65108524	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:65108524C>T	ENST00000528416.1	+	3	414	c.281C>T	c.(280-282)tCc>tTc	p.S94F	DPF2_ENST00000252268.4_Missense_Mutation_p.S94F|DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000415073.2_Missense_Mutation_p.S94F	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	94					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						CCACGACTTTCCTTCCCATCT	0.587000													21	27					0	0	0.006320	0	0
CLDN15	24146	broad.mit.edu	37	7	100880830	100880830	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100880830G>A	ENST00000401528.1	-	2	1158	c.33C>T	c.(31-33)ttC>ttT	p.F11F	CLDN15_ENST00000308344.5_Silent_p.F11F|CLDN15_ENST00000433422.1_5'UTR	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	11					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					CAGTTGCCATGAAGAAGCCAA	0.607000													5	20					0	0	0.000602	0	0
PLXNC1	10154	broad.mit.edu	37	12	94642108	94642108	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:94642108C>T	ENST00000258526.4	+	14	2947	c.2698C>T	c.(2698-2700)Caa>Taa	p.Q900*		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	900					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TACTAGAAATCAAGATCTTAC	0.373000													21	14					0	0	0.012319	0	0
GRXCR2	643226	broad.mit.edu	37	5	145252280	145252280	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:145252280C>T	ENST00000377976.1	-	1	251	c.252G>A	c.(250-252)agG>agA	p.R84R		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	84										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						ACACACTGATCCTCTGAGCAG	0.512000													8	39					0	0	0.003080	0	0
ZNF827	152485	broad.mit.edu	37	4	146824066	146824066	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:146824066G>A	ENST00000508784.1	-	2	572	c.345C>T	c.(343-345)tcC>tcT	p.S115S	ZNF827_ENST00000379448.4_Silent_p.S115S|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GGGGCTTGTTGGAGCCTGGGT	0.582000													4	27					0	0	0.009096	0	0
NEB	4703	broad.mit.edu	37	2	152507377	152507377	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:152507377C>T	ENST00000397345.3	-	53	7140	c.6938G>A	c.(6937-6939)cGa>cAa	p.R2313Q	NEB_ENST00000172853.10_Missense_Mutation_p.R2313Q|NEB_ENST00000603639.1_Missense_Mutation_p.R2313Q|NEB_ENST00000427231.2_Missense_Mutation_p.R2313Q|NEB_ENST00000604864.1_Missense_Mutation_p.R2313Q|NEB_ENST00000409198.1_Missense_Mutation_p.R2313Q	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2313					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAGTTGCTTTCGGTAGCCTTG	0.393000													50	93					0	0	0.014410	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648653	41648653	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:41648653C>T	ENST00000313860.7	+	12	1462	c.1408C>T	c.(1408-1410)Cat>Tat	p.H470Y	LIMCH1_ENST00000396595.3_Missense_Mutation_p.H316Y|LIMCH1_ENST00000508501.1_Missense_Mutation_p.H470Y|LIMCH1_ENST00000511496.1_Missense_Mutation_p.H311Y|LIMCH1_ENST00000512632.1_Missense_Mutation_p.H470Y|LIMCH1_ENST00000509277.1_Missense_Mutation_p.H304Y|LIMCH1_ENST00000514096.1_Missense_Mutation_p.H311Y|LIMCH1_ENST00000503057.1_Missense_Mutation_p.H855Y|LIMCH1_ENST00000512946.1_Missense_Mutation_p.H470Y|LIMCH1_ENST00000512820.1_Missense_Mutation_p.H458Y|LIMCH1_ENST00000513024.1_Missense_Mutation_p.H299Y|LIMCH1_ENST00000381753.4_Missense_Mutation_p.H304Y	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	470					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GGAAAGAAGCCATTCAACAGA	0.493000													74	77					0	0	0.014410	0	0
MRPL44	65080	broad.mit.edu	37	2	224828523	224828523	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:224828523G>C	ENST00000258383.3	+	3	768	c.699G>C	c.(697-699)aaG>aaC	p.K233N		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	233					RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		AGATGTGGAAGATAATAAATC	0.348000													16	20					0	0	0.012319	0	0
SLC39A5	283375	broad.mit.edu	37	12	56625139	56625139	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:56625139C>T	ENST00000266980.4	+	2	374	c.81C>T	c.(79-81)ccC>ccT	p.P27P	SLC39A5_ENST00000454355.2_Silent_p.P27P	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	27					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTCAGTCCCCAACCTGGGCC	0.632000													62	41					0	0	0.014410	0	0
TTC39C	125488	broad.mit.edu	37	18	21694560	21694560	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:21694560G>A	ENST00000540918.2	+	2	356	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	RP11-799B12.2_ENST00000583782.1_RNA|TTC39C_ENST00000317571.3_Missense_Mutation_p.E343K|TTC39C_ENST00000304621.6_Missense_Mutation_p.E282K			Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	343							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						CACTGCTTTGGAACTTGCAGT	0.373000													11	41					0	0	0.001855	0	0
TIGD3	220359	broad.mit.edu	37	11	65123368	65123368	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:65123368C>T	ENST00000309880.5	+	2	296	c.89C>T	c.(88-90)tCc>tTc	p.S30F		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	30	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TCCAAGATGTCCCAGTCGGAG	0.617000													28	48					0	0	0.007291	0	0
EGFR	1956	broad.mit.edu	37	7	55210029	55210029	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:55210029C>T	ENST00000275493.2	+	2	316	c.139C>T	c.(139-141)Cat>Tat	p.H47Y	EGFR_ENST00000420316.2_Missense_Mutation_p.H47Y|EGFR_ENST00000454757.2_5'UTR|EGFR_ENST00000455089.1_Missense_Mutation_p.H47Y|EGFR_ENST00000442591.1_Missense_Mutation_p.H47Y|EGFR_ENST00000344576.2_Missense_Mutation_p.H47Y|EGFR_ENST00000342916.3_Missense_Mutation_p.H47Y	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	47					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TTTTGAAGATCATTTTCTCAG	0.398000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			16	85					0	0	0.004007	0	0
CLCN2	1181	broad.mit.edu	37	3	184075213	184075213	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:184075213A>G	ENST00000265593.4	-	8	1006	c.835T>C	c.(835-837)Ttc>Ctc	p.F279L	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000457512.1_Missense_Mutation_p.F279L|CLCN2_ENST00000344937.7_Missense_Mutation_p.F279L|CLCN2_ENST00000434054.2_Missense_Mutation_p.F235L|CLCN2_ENST00000423355.2_5'UTR	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	279						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GCAGCGAAGAAGCCCCGCCAG	0.632000													21	75					0	0	0.002780	0	0
NRP2	8828	broad.mit.edu	37	2	206580992	206580992	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:206580992C>T	ENST00000360409.3	+	3	1118	c.327C>T	c.(325-327)gcC>gcT	p.A109A	NRP2_ENST00000355117.4_Silent_p.A109A|NRP2_ENST00000357118.4_Silent_p.A109A|NRP2_ENST00000417189.1_Silent_p.A109A|NRP2_ENST00000540841.1_Silent_p.A109A|NRP2_ENST00000272849.3_Silent_p.A109A|NRP2_ENST00000357785.5_Silent_p.A109A|NRP2_ENST00000540178.1_Silent_p.A109A|NRP2_ENST00000412873.2_Silent_p.A109A	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	109	CUB 1.				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						GGAACATCGCCCCGCCCACCA	0.587000													39	55					0	0	0.006230	0	0
TAF1L	138474	broad.mit.edu	37	9	32631765	32631765	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:32631765C>T	ENST00000242310.4	-	1	3902	c.3813G>A	c.(3811-3813)aaG>aaA	p.K1271K		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1271					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTTTCATTTTCTTGGGCTTCT	0.478000													16	59					0	0	0.004007	0	0
PPRC1	23082	broad.mit.edu	37	10	103900612	103900612	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:103900612C>T	ENST00000278070.2	+	5	2386	c.2347C>T	c.(2347-2349)Cca>Tca	p.P783S	PPRC1_ENST00000413464.2_Missense_Mutation_p.P783S	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	783	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCCTAGCCTTCCAGAGACTCC	0.577000													7	34					0	0	0.003080	0	0
THADA	63892	broad.mit.edu	37	2	43625251	43625251	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:43625251G>A	ENST00000405006.4	-	29	4437	c.4086C>T	c.(4084-4086)tcC>tcT	p.S1362S	THADA_ENST00000405975.2_Silent_p.S1362S|THADA_ENST00000415080.2_Silent_p.S1043S|THADA_ENST00000330266.7_Intron|THADA_ENST00000485353.1_5'UTR	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1362							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CCATTTCACGGGAGTGGTAGA	0.453000													64	238					0	0	0.014410	0	0
CSTF3	1479	broad.mit.edu	37	11	33163455	33163455	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:33163455C>T	ENST00000323959.4	-	2	244	c.105G>A	c.(103-105)tgG>tgA	p.W35*	CSTF3_ENST00000438862.2_Nonsense_Mutation_p.W35*|CSTF3_ENST00000431742.2_Nonsense_Mutation_p.W35*|CSTF3_ENST00000526480.1_5'UTR|CSTF3_ENST00000524827.1_Nonsense_Mutation_p.W67*	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	35					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						TGAGAATGCTCCAAGCATCAA	0.403000													10	71					0	0	0.001855	0	0
PRRC2B	84726	broad.mit.edu	37	9	134342990	134342990	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:134342990C>T	ENST00000357304.4	+	12	1816	c.1761C>T	c.(1759-1761)ttC>ttT	p.F587F	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Silent_p.F587F|PRRC2B_ENST00000458550.1_Silent_p.F587F	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	587							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CCACCACATTCCCAGAAGAGG	0.562000													7	4					0	0	0.003080	0	0
ZNF90	7643	broad.mit.edu	37	19	20215171	20215171	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:20215171C>T	ENST00000418063.2	+	2	239	c.127C>T	c.(127-129)Ctt>Ttt	p.L43F	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	43	KRAB.					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						CCTGGTCTTCCTTGGTGAGGA	0.373000													12	47					0	0	0.001855	0	0
SH3GLB1	51100	broad.mit.edu	37	1	87190087	87190087	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:87190087C>T	ENST00000370558.4	+	5	893	c.570_splice	c.e5+1	p.S190_splice	SH3GLB1_ENST00000535010.1_Splice_Site_p.S90_splice|SH3GLB1_ENST00000482504.1_Splice_Site_p.S190_splice	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	190	BAR.				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		ACTAGAAATTCAGTAAGTAAA	0.264000													5	13					0	0	0.001168	0	0
PDE1B	5153	broad.mit.edu	37	12	54943669	54943669	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:54943669C>T	ENST00000243052.3	+	2	449	c.13C>T	c.(13-15)Ccc>Tcc	p.P5S		NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	5					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						GGAGCTGTCCCCCCGCAGTCC	0.622000													16	20					0	0	0.006122	0	0
KCNC3	3748	broad.mit.edu	37	19	50826917	50826917	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:50826917G>A	ENST00000376959.2	-	2	1456	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	KCNC3_ENST00000477616.1_Silent_p.F431F|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000391818.2_Intron			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	431					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		GCAGCCCCACGAAGTGCCGGG	0.657000													10	19					0	0	0.010729	0	0
IP6K3	117283	broad.mit.edu	37	6	33703100	33703100	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:33703100C>T	ENST00000451316.1	-	3	689	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	IP6K3_ENST00000293756.4_Missense_Mutation_p.E52K	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	52					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						GGCAGGGATTCATAGAACCTC	0.632000													8	20					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179579181	179579181	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179579181C>T	ENST00000589042.1	-	91	26544	c.26320G>A	c.(26320-26322)Gga>Aga	p.G8774R	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7530R|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G8457R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8457	Ig-like 70.						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)			ACGATTTCTCCCTTATCTTTG	0.408000													4	23					0	0	0.009096	0	0
ZNF645	158506	broad.mit.edu	37	X	22292062	22292062	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:22292062G>A	ENST00000323684.1	+	1	998	c.954G>A	c.(952-954)acG>acA	p.T318T		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	318	Pro-rich.					intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						CTCTAACCACGACCTACGATC	0.458000													37	10					0	0	0.006230	0	0
OR52N4	390072	broad.mit.edu	37	11	5776644	5776644	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5776644G>A	ENST00000317254.3	+	1	722	c.674G>A	c.(673-675)cGg>cAg	p.R225Q	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		ATGATTCTCCGGGCAGTGGTC	0.493000													20	60					0	0	0.012319	0	0
ADAM22	53616	broad.mit.edu	37	7	87792331	87792331	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:87792331G>A	ENST00000398204.4	+	23	2235	c.1912G>A	c.(1912-1914)Ggg>Agg	p.G638R	ADAM22_ENST00000398201.4_Missense_Mutation_p.G638R|ADAM22_ENST00000315984.7_Missense_Mutation_p.G638R|ADAM22_ENST00000398209.3_Missense_Mutation_p.G638R|ADAM22_ENST00000265727.7_Missense_Mutation_p.G638R	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	638	Cys-rich.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TTTTAGTGGTGGGCATGTTAA	0.378000													16	71					0	0	0.004990	0	0
IGKV1D-16	28901	broad.mit.edu	37	2	90139140	90139140	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:90139140C>T	ENST00000492446.1	+	0	63																											TCCTGGGGCTCCTGCTGCTCT	0.512000													26	134					0	0	0.012213	0	0
SORL1	6653	broad.mit.edu	37	11	121437754	121437754	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:121437754C>T	ENST00000260197.7	+	22	3284	c.3155C>T	c.(3154-3156)cCa>cTa	p.P1052L	SORL1_ENST00000525532.1_5'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1052	EGF-like.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGTGTGCTTCCATCAGGGGAC	0.532000													6	23					0	0	0.001984	0	0
SGSM1	129049	broad.mit.edu	37	22	25294145	25294145	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:25294145G>A	ENST00000400358.4	+	19	2286	c.2229G>A	c.(2227-2229)cgG>cgA	p.R743R	SGSM1_ENST00000400359.4_Silent_p.R798R	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	798	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ACGCCCAGCGGAACACCCCCA	0.627000													9	46					0	0	0.010729	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55360232	55360232	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:55360232G>A	ENST00000398661.2	-	8	1001	c.870C>T	c.(868-870)atC>atT	p.I290I	HMGCLL1_ENST00000370850.2_Silent_p.I157I|HMGCLL1_ENST00000308161.4_Silent_p.I228I|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Silent_p.I260I	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	290							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGGCCGTAAGGATATTTGCTA	0.388000													10	30					0	0	0.010729	0	0
DCLK3	85443	broad.mit.edu	37	3	36779376	36779376	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:36779376C>T	ENST00000416516.2	-	2	1265	c.775G>A	c.(775-777)Gag>Aag	p.E259K		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	259						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TTCTTCACCTCCCTCAGCCCC	0.602000													43	91					0	0	0.008740	0	0
SPTA1	6708	broad.mit.edu	37	1	158618341	158618341	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158618341C>T	ENST00000368148.3	-	26	3852	c.3672G>A	c.(3670-3672)cgG>cgA	p.R1224R	SPTA1_ENST00000368147.3_Silent_p.R1224R	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1224					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCCCTCATGCCGTCGCTGAA	0.502000													29	62					0	0	0.010818	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100222183	100222183	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:100222183C>T	ENST00000231461.5	-	3	677	c.367G>A	c.(367-369)Gat>Aat	p.D123N	ST8SIA4_ENST00000451528.2_Missense_Mutation_p.D123N|ST8SIA4_ENST00000507360.2_5'UTR	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	123					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)		CTATGTAGATCATGAGAAATG	0.443000													19	54					0	0	0.012319	0	0
LST3	0	broad.mit.edu	37	12	21242995	21242995	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:21242995C>T	ENST00000540229.1	+	16	2267	c.2202C>T	c.(2200-2202)ttC>ttT	p.F734F	LST3_ENST00000381541.3_Silent_p.F673F|RP11-125O5.2_ENST00000590779.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.F673F|SLCO1B3_ENST00000553473.1_Silent_p.F734F|SLCO1B7_ENST00000421593.2_Silent_p.F626F																							ACTTAGAATTCTTAAACGACA	0.308000													12	9					0	0	0.010729	0	0
GSTA2	2939	broad.mit.edu	37	6	52619770	52619770	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:52619770G>A	ENST00000493422.1	-	4	398	c.243C>T	c.(241-243)ctC>ctT	p.L81L		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	81	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	CTTTCCCATAGAGGTTGTATT	0.443000													27	171					0	0	0.004656	0	0
BAI3	577	broad.mit.edu	37	6	70064192	70064192	+	Missense_Mutation	SNP	C	C	T	rs142863825		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:70064192C>T	ENST00000370598.1	+	27	4348	c.3527C>T	c.(3526-3528)tCg>tTg	p.S1176L	BAI3_ENST00000546190.1_Missense_Mutation_p.S140L|BAI3_ENST00000238918.8_Missense_Mutation_p.S382L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1176	Poly-Ser.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCTTCGAGTTCGTTTCCTAAT	0.393000													23	82					0	0	0.004656	0	0
MCM6	4175	broad.mit.edu	37	2	136624252	136624252	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:136624252G>A	ENST00000264156.2	-	5	722	c.662C>T	c.(661-663)cCc>cTc	p.P221L		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	221					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TAAACTGCGGGGGATACTCCC	0.463000													23	47					0	0	0.007291	0	0
MICALCL	84953	broad.mit.edu	37	11	12313749	12313749	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:12313749C>T	ENST00000256186.2	+	2	325	c.34C>T	c.(34-36)Cct>Tct	p.P12S		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	12	Ser-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		tccttctcttcctcttccttc	0.473000													15	19					0	0	0.003163	0	0
C1orf173	127254	broad.mit.edu	37	1	75039122	75039122	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:75039122C>T	ENST00000326665.5	-	14	2490	c.2272G>A	c.(2272-2274)Gaa>Aaa	p.E758K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	758	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						TGCTGGGATTCCTTGTTTGAG	0.408000													27	40					0	0	0.009535	0	0
NTRK3	4916	broad.mit.edu	37	15	88726711	88726711	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:88726711C>T	ENST00000394480.1	-	5	654	c.333G>A	c.(331-333)aaG>aaA	p.K111K	NTRK3_ENST00000542733.2_Silent_p.K13K|NTRK3_ENST00000557856.1_Silent_p.K111K|NTRK3_ENST00000540489.2_Silent_p.K111K|NTRK3_ENST00000360948.2_Silent_p.K111K|NTRK3_ENST00000355254.2_Silent_p.K111K|NTRK3_ENST00000558676.1_Silent_p.K111K|NTRK3_ENST00000317501.3_Silent_p.K111K|NTRK3_ENST00000357724.2_Silent_p.K111K	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	111					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GTCCTGAGTTCTTGATGGTCC	0.552000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			26	68					0	0	0.005443	0	0
SCTR	6344	broad.mit.edu	37	2	120223413	120223413	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:120223413G>A	ENST00000019103.5	-	5	722	c.455C>T	c.(454-456)tCc>tTc	p.S152F		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	152					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	GACCAGGGAGGAGCTGTAGCC	0.612000													17	50					0	0	0.012319	0	0
DDX60	55601	broad.mit.edu	37	4	169138161	169138161	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:169138161C>T	ENST00000393743.3	-	38	5353	c.5062G>A	c.(5062-5064)Gaa>Aaa	p.E1688K		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1688							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TCTTCATTTTCACATAGCTCA	0.363000													18	21					0	0	0.010504	0	0
LRTM1	57408	broad.mit.edu	37	3	54959240	54959240	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:54959240C>T	ENST00000273286.5	-	2	172	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_5'UTR|CACNA2D3_ENST00000288197.5_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	4						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AGGAGCAGTTCACCTACAACA	0.453000													9	23					0	0	0.010729	0	0
BST1	683	broad.mit.edu	37	4	15717380	15717380	+	Missense_Mutation	SNP	G	G	A	rs113632818		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:15717380G>A	ENST00000382346.3	+	7	756	c.707G>A	c.(706-708)cGa>cAa	p.R236Q	BST1_ENST00000265016.4_Missense_Mutation_p.R221Q			Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	221					humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						AAAATTACACGAATCGAGATC	0.328000													8	15					0	0	0.010729	0	0
RIMS1	22999	broad.mit.edu	37	6	72967929	72967929	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:72967929C>T	ENST00000264839.7	+	17	2872	c.2872C>T	c.(2872-2874)Cgc>Tgc	p.R958C	RIMS1_ENST00000522291.1_Missense_Mutation_p.R957C|RIMS1_ENST00000425662.2_Missense_Mutation_p.R351C|RIMS1_ENST00000521978.1_Missense_Mutation_p.R958C|RIMS1_ENST00000518273.1_Missense_Mutation_p.R958C|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000517827.1_Missense_Mutation_p.R417C|RIMS1_ENST00000401910.3_Missense_Mutation_p.R431C|RIMS1_ENST00000523963.1_Missense_Mutation_p.R432C|RIMS1_ENST00000517960.1_Missense_Mutation_p.R957C|RIMS1_ENST00000348717.5_Missense_Mutation_p.R957C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R958C|RIMS1_ENST00000520567.1_Missense_Mutation_p.R957C			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	958					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATCTCCTCATCGCGGCAATGA	0.448000													9	22					0	0	0.004482	0	0
IL33	90865	broad.mit.edu	37	9	6252872	6252872	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:6252872C>T	ENST00000381434.3	+	4	363	c.350C>T	c.(349-351)tCa>tTa	p.S117L	IL33_ENST00000456383.2_Intron|IL33_ENST00000417746.2_Intron	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	117					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		ACAGGAATTTCACCTATTACA	0.318000													14	47					0	0	0.007413	0	0
ATP2A1	487	broad.mit.edu	37	16	28914725	28914725	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:28914725G>A	ENST00000395503.4	+	21	3128	c.2944G>A	c.(2944-2946)Gaa>Aaa	p.E982K	ATP2A1_ENST00000357084.3_Missense_Mutation_p.E982K|ATP2A1_ENST00000536376.1_Missense_Mutation_p.E857K	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	982					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TGGGCTCGACGAAATCCTCAA	0.612000													14	53					0	0	0.004007	0	0
OR4D10	390197	broad.mit.edu	37	11	59244992	59244992	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:59244992C>T	ENST00000530162.1	+	1	147	c.90C>T	c.(88-90)ttC>ttT	p.F30F		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TATTTCTTTTCCTACTCTTGG	0.438000													22	89					0	0	0.014323	0	0
PCDHA11	56138	broad.mit.edu	37	5	140248801	140248801	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140248801A>C	ENST00000398640.2	+	1	113	c.113A>C	c.(112-114)gAg>gCg	p.E38A	PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTCGGAGGAGGCCAAACAC	0.652000													7	60					0	0	0.003080	0	0
CUBN	8029	broad.mit.edu	37	10	17061853	17061853	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:17061853G>A	ENST00000377833.4	-	28	4212	c.4147C>T	c.(4147-4149)Cag>Tag	p.Q1383*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1383	CUB 8.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CACTGCATCTGAAATCCTTTC	0.473000													8	23					0	0	0.006214	0	0
GPC5	2262	broad.mit.edu	37	13	93518546	93518546	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:93518546G>A	ENST00000377067.3	+	8	1945	c.1573G>A	c.(1573-1575)Gat>Aat	p.D525N		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	525						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GATGCCAGATGATATGAACTT	0.433000													14	20					0	0	0.004007	0	0
NCOA6	23054	broad.mit.edu	37	20	33330866	33330866	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:33330866G>A	ENST00000374796.2	-	12	5764	c.3194C>T	c.(3193-3195)tCc>tTc	p.S1065F	NCOA6_ENST00000359003.2_Missense_Mutation_p.S1065F			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1065	NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CATTCTCTGGGAGTCGGGGTT	0.527000													44	109					0	0	0.014410	0	0
CNGA3	1261	broad.mit.edu	37	2	98996810	98996810	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:98996810G>A	ENST00000393504.1	+	4	805	c.388G>A	c.(388-390)Ggg>Agg	p.G130R	CNGA3_ENST00000272602.2_Missense_Mutation_p.G130R|CNGA3_ENST00000436404.2_Missense_Mutation_p.G130R|CNGA3_ENST00000409937.1_Missense_Mutation_p.G134R	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	130					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						AGCAGACAGAGGGAGAAGGTA	0.572000													7	9					0	0	0.006214	0	0
EDDM3A	10876	broad.mit.edu	37	14	21215935	21215935	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:21215935C>T	ENST00000326842.2	+	2	323	c.196C>T	c.(196-198)Cat>Tat	p.H66Y		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	66					sperm displacement	extracellular space				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						CAAGAGCTTTCATATGTTCAT	0.403000													7	25					0	0	0.001984	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349360	103349360	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:103349360G>A	ENST00000357421.4	-	2	761	c.581C>T	c.(580-582)tCt>tTt	p.S194F		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	194					transport	integral to membrane|mitochondrial inner membrane											GTCCTTGAAAGAAAAATATAG	0.552000													39	12					0	0	0.005524	0	0
NOS1	4842	broad.mit.edu	37	12	117665424	117665424	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:117665424C>T	ENST00000317775.6	-	23	4113	c.3428G>A	c.(3427-3429)tGg>tAg	p.W1143*	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Nonsense_Mutation_p.W1177*	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1143	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCCCCATTTCCATTCCTCGTA	0.592000													29	24					0	0	0.010818	0	0
RBMXL2	27288	broad.mit.edu	37	11	7110574	7110574	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:7110574G>A	ENST00000306904.5	+	1	410	c.223G>A	c.(223-225)Gat>Aat	p.D75N		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	75	RRM.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAAGTCCCTGGATGGTAAGGC	0.672000													5	7					0	0	0.000602	0	0
ZNF214	7761	broad.mit.edu	37	11	7022616	7022616	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:7022616G>A	ENST00000278314.4	-	3	613	c.298C>T	c.(298-300)Cgt>Tgt	p.R100C	ZNF214_ENST00000536068.1_Missense_Mutation_p.R100C	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		CACTGGGAACGATCTTGCTGT	0.453000													144	252					0	0	0.014410	0	0
SEMA5A	9037	broad.mit.edu	37	5	9063102	9063102	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:9063102C>T	ENST00000382496.5	-	18	3080	c.2415G>A	c.(2413-2415)cgG>cgA	p.R805R		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	805	TSP type-1 5.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCTTCCGGTTCCGAATGCCCC	0.592000													13	39					0	0	0.002450	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147964131	147964131	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:147964131C>T	ENST00000361727.3	+	21	3904	c.3388C>T	c.(3388-3390)Cat>Tat	p.H1130Y	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.H189Y	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1130	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCAGCTCGATCATTATCCTTC	0.458000										HNSCC(39;0.1)			13	94					0	0	0.002450	0	0
MAP3K6	9064	broad.mit.edu	37	1	27689240	27689240	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:27689240G>A	ENST00000374040.3	-	7	1383	c.1123C>T	c.(1123-1125)Cgc>Tgc	p.R375C	MAP3K6_ENST00000493901.1_Missense_Mutation_p.R383C|MAP3K6_ENST00000357582.2_Missense_Mutation_p.R383C			O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	383					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AAAGCCTTGCGATACCTGGGG	0.592000													9	24					0	0	0.006214	0	0
ADAM28	10863	broad.mit.edu	37	8	24181412	24181412	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:24181412G>A	ENST00000265769.4	+	9	896	c.786G>A	c.(784-786)aaG>aaA	p.K262K	RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Silent_p.K9K|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Silent_p.K262K|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000540823.1_Silent_p.K29K|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	262	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ACAAGGATAAGATAAAGATAA	0.368000													12	29					0	0	0.013537	0	0
F13A1	2162	broad.mit.edu	37	6	6196109	6196109	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:6196109C>T	ENST00000264870.3	-	10	1491	c.1226G>A	c.(1225-1227)cGg>cAg	p.R409Q		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	409					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGGGCCACACCGATACATGCC	0.512000													12	35					0	0	0.002450	0	0
SLC28A2	9153	broad.mit.edu	37	15	45556877	45556877	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:45556877G>A	ENST00000347644.3	+	7	678	c.613G>A	c.(613-615)Ggc>Agc	p.G205S	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	205					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		AGTGTTTTCGGGCCTAGGTCT	0.418000													21	48					0	0	0.002780	0	0
MUC4	4585	broad.mit.edu	37	3	195518055	195518055	+	Missense_Mutation	SNP	C	C	T	rs147332471	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:195518055C>T	ENST00000463781.3	-	2	855	c.396G>A	c.(394-396)atG>atA	p.M132I	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.M132I|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	137					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TTGATGTCATCATGAGTGTGT	0.443000													8	39					0	0	0.003080	0	0
FBXW10	10517	broad.mit.edu	37	17	18673314	18673314	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:18673314A>T	ENST00000308799.4	+	10	2228	c.2009A>T	c.(2008-2010)aAt>aTt	p.N670I	FBXW10_ENST00000395665.4_Missense_Mutation_p.N641I|FBXW10_ENST00000395667.1_Missense_Mutation_p.N641I|FBXW10_ENST00000301938.4_Intron|FBXW10_ENST00000573605.1_3'UTR			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	641										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CGAATTTACAATTTCCTCAAC	0.527000													70	72					0	0	0.014410	0	0
SLAMF8	56833	broad.mit.edu	37	1	159802870	159802870	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:159802870G>A	ENST00000289707.5	+	3	721	c.572G>A	c.(571-573)gGa>gAa	p.G191E	SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Missense_Mutation_p.G82E	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	191	Ig-like C2-type.					integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					ATTTCCCTGGGACCAGGAGAC	0.547000													19	40					0	0	0.007413	0	0
LPHN2	23266	broad.mit.edu	37	1	82434986	82434986	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:82434986G>A	ENST00000370728.1	+	17	3281	c.2636G>A	c.(2635-2637)cGa>cAa	p.R879Q	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.R866Q|LPHN2_ENST00000359929.3_Missense_Mutation_p.R866Q|LPHN2_ENST00000370725.1_Missense_Mutation_p.R879Q|LPHN2_ENST00000370721.1_Missense_Mutation_p.R804Q|LPHN2_ENST00000319517.6_Missense_Mutation_p.R866Q|LPHN2_ENST00000370730.1_Missense_Mutation_p.R879Q|LPHN2_ENST00000370713.1_Missense_Mutation_p.R866Q|LPHN2_ENST00000335786.5_Missense_Mutation_p.R879Q|LPHN2_ENST00000370715.1_Missense_Mutation_p.R866Q|LPHN2_ENST00000370717.2_Missense_Mutation_p.R879Q|LPHN2_ENST00000370723.1_Missense_Mutation_p.R866Q|LPHN2_ENST00000271029.4_Missense_Mutation_p.R879Q|LPHN2_ENST00000370727.1_Missense_Mutation_p.R879Q			O95490	LPHN2_HUMAN	latrophilin 2	879					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.R866Q(1)|p.R879Q(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CAGAGTGACCGAAATACTATT	0.408000													43	111					0	0	0.011902	0	0
OR10S1	219873	broad.mit.edu	37	11	123848225	123848225	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:123848225G>A	ENST00000531945.1	-	1	263	c.174C>T	c.(172-174)atC>atT	p.I58I		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		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)		CAGTTAGGAGGATGAGGAGAT	0.527000													3	11					0	0	0.004672	0	0
OR4C15	81309	broad.mit.edu	37	11	55322605	55322605	+	Silent	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:55322605T>C	ENST00000314644.2	+	1	823	c.823T>C	c.(823-825)Ttg>Ctg	p.L275L		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGCTGTCATCTTGCTCTCTCT	0.463000										HNSCC(20;0.049)			30	91					0	0	0.010818	0	0
DECR2	26063	broad.mit.edu	37	16	461008	461008	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:461008C>T	ENST00000219481.5	+	7	731	c.593C>T	c.(592-594)cCc>cTc	p.P198L	DECR2_ENST00000461947.1_3'UTR|DECR2_ENST00000424398.2_Missense_Mutation_p.P186L	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	198						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				GAGTGGGGTCCCCAAAACATC	0.652000													3	7					0	0	0.009096	0	0
TIMD4	91937	broad.mit.edu	37	5	156378590	156378590	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:156378590G>A	ENST00000274532.2	-	3	668	c.612C>T	c.(610-612)acC>acT	p.T204T	TIMD4_ENST00000407087.3_Silent_p.T204T	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	204	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTCCGGAAGGGTGCTTGGGG	0.537000													69	248					0	0	0.014410	0	0
CNNM2	54805	broad.mit.edu	37	10	104679674	104679674	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:104679674C>T	ENST00000369878.3	+	1	1561	c.1437C>T	c.(1435-1437)acC>acT	p.T479T	CNNM2_ENST00000433628.2_Silent_p.T479T|CNNM2_ENST00000457502.2_Silent_p.T237T|CNNM2_ENST00000369875.3_Silent_p.T479T	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2	479	CBS 1.				ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GCGGCTACACCCGCATTCCAG	0.552000													10	27					0	0	0.008291	0	0
IGLL1	3543	broad.mit.edu	37	22	23915751	23915751	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:23915751G>A	ENST00000330377.2	-	3	461	c.344C>T	c.(343-345)tCg>tTg	p.S115L	IGLL1_ENST00000249053.3_Silent_p.L76L	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	115	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						CAGAGTGACCGAGGGGGTGGC	0.577000													8	34					0	0	0.003080	0	0
LRIT3	345193	broad.mit.edu	37	4	110791074	110791074	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:110791074C>T	ENST00000327908.3	+	4	1384	c.620C>T	c.(619-621)tCc>tTc	p.S207F	LRIT3_ENST00000409621.2_Missense_Mutation_p.S207F|LRIT3_ENST00000379920.3_Missense_Mutation_p.S345F|LRIT3_ENST00000594814.1_Missense_Mutation_p.S390F			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	345	LRRCT.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TGGtcctcttccttctccccc	0.463000													18	58					0	0	0.006122	0	0
LHX6	26468	broad.mit.edu	37	9	124979471	124979471	+	Silent	SNP	G	G	A	rs116345380	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:124979471G>A	ENST00000394319.4	-	5	662	c.558C>T	c.(556-558)ttC>ttT	p.F186F	LHX6_ENST00000373755.2_Silent_p.F157F|LHX6_ENST00000541397.2_Silent_p.F175F|LHX6_ENST00000373754.2_Silent_p.F157F|LHX6_ENST00000559895.1_5'UTR|LHX6_ENST00000340587.3_Silent_p.F186F	NM_014368.4	NP_055183.2	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	157	Required for interaction with LBD1 (By similarity).				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						AGAAGCAGGCGAAGCAGGCCA	0.642000													9	55					0	0	0.008291	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278537	36278537	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:36278537C>T	ENST00000007510.4	+	21	3214	c.3070C>T	c.(3070-3072)Ccc>Tcc	p.P1024S	ARHGAP33_ENST00000378944.5_Intron|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.P863S			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1024					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						ATGTTCTGTCCCCTCACAGGT	0.706000													18	40					0	0	0.012319	0	0
ADAM22	53616	broad.mit.edu	37	7	87792381	87792381	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:87792381G>A	ENST00000398204.4	+	23	2285	c.1962G>A	c.(1960-1962)ggG>ggA	p.G654G	ADAM22_ENST00000398201.4_Silent_p.G654G|ADAM22_ENST00000315984.7_Silent_p.G654G|ADAM22_ENST00000398209.3_Silent_p.G654G|ADAM22_ENST00000265727.7_Silent_p.G654G	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	654	Cys-rich.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TGGAAGATGGGACACCTTGTG	0.398000													44	38					0	0	0.014410	0	0
HARBI1	283254	broad.mit.edu	37	11	46637537	46637537	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:46637537G>A	ENST00000326737.3	-	2	498	c.251C>T	c.(250-252)tCc>tTc	p.S84F		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	84						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						AGTCTGGAAGGAACCTGAGGT	0.522000													39	56					0	0	0.005524	0	0
RPL10L	140801	broad.mit.edu	37	14	47120333	47120333	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:47120333G>A	ENST00000298283.3	-	1	695	c.607C>T	c.(607-609)Cat>Tat	p.H203Y		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	203					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						AAGGGGCCATGACTGGGAACG	0.493000													9	43					0	0	0.008291	0	0
TRPM6	140803	broad.mit.edu	37	9	77425749	77425749	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:77425749G>A	ENST00000451710.3	-	13	1716	c.1479C>T	c.(1477-1479)ctC>ctT	p.L493L	TRPM6_ENST00000376871.3_Silent_p.L493L|TRPM6_ENST00000376864.4_Silent_p.L493L|TRPM6_ENST00000449912.2_Silent_p.L488L|TRPM6_ENST00000360774.1_Silent_p.L493L|TRPM6_ENST00000361255.3_Silent_p.L488L|TRPM6_ENST00000376872.3_Silent_p.L493L			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	493					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						CATCTTGGACGAGATGATGCA	0.378000													18	30					0	0	0.008871	0	0
TRIM8	81603	broad.mit.edu	37	10	104416605	104416605	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:104416605C>T	ENST00000302424.6	+	6	1272	c.1150C>T	c.(1150-1152)Cca>Tca	p.P384S	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	384						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		AACGGCCTTCCCAGAGGCCAG	0.697000													26	91					0	0	0.007291	0	0
TRANK1	9881	broad.mit.edu	37	3	36873841	36873841	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:36873841C>T	ENST00000429976.2	-	21	7348	c.7101G>A	c.(7099-7101)gaG>gaA	p.E2367E	TRANK1_ENST00000428977.2_Silent_p.E1817E|TRANK1_ENST00000301807.6_Silent_p.E1817E			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2367					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CAATGCAATTCTCCAGAAGCC	0.453000													33	61					0	0	0.003755	0	0
MYH2	4620	broad.mit.edu	37	17	10432367	10432367	+	Silent	SNP	G	G	A	rs139130605		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:10432367G>A	ENST00000245503.5	-	27	3768	c.3384C>T	c.(3382-3384)atC>atT	p.I1128I	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.I1128I|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1128					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCTCTGCCTCGATTTCCTCCT	0.582000													22	11					0	0	0.003330	0	0
TCL1A	8115	broad.mit.edu	37	14	96180377	96180377	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:96180377C>T	ENST00000402399.1	-	1	156	c.27G>A	c.(25-27)gaG>gaA	p.E9E	RP11-164H13.1_ENST00000553445.1_RNA|RP11-164H13.1_ENST00000547644.2_RNA|TCL1A_ENST00000554012.1_Silent_p.E9E|TCL1A_ENST00000556450.1_Silent_p.E9E|TCL1A_ENST00000555202.1_Silent_p.E9E	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN	T-cell leukemia/lymphoma 1A	9					multicellular organismal development	endoplasmic reticulum|microsome				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CGGTGACTGCCTCCCCGAGTG	0.657000			T	TRA@	T-CLL								31	35					0	0	0.012213	0	0
C9orf84	158401	broad.mit.edu	37	9	114538131	114538131	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:114538131C>T	ENST00000374287.3	-	5	450	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	C9orf84_ENST00000318737.4_Missense_Mutation_p.E64K|C9orf84_ENST00000374283.5_Missense_Mutation_p.E128K			Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	64										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTAAAGACTTCATTGTAGTCC	0.353000													13	45					0	0	0.004007	0	0
BEST4	266675	broad.mit.edu	37	1	45251749	45251749	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:45251749C>T	ENST00000372207.3	-	4	632	c.633G>A	c.(631-633)ttG>ttA	p.L211L		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	211						chloride channel complex|plasma membrane	chloride channel activity			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					CACTCACTTCCAAAAGTAGAC	0.507000											OREG0013447	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	77					0	0	0.004878	0	0
PCDHA11	56138	broad.mit.edu	37	5	140248800	140248800	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140248800G>A	ENST00000398640.2	+	1	112	c.112G>A	c.(112-114)Gag>Aag	p.E38K	PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTCTCGGAGGAGGCCAAACA	0.652000													7	58					0	0	0.003080	0	0
SLC22A10	387775	broad.mit.edu	37	11	63078499	63078499	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:63078499A>T	ENST00000332793.6	+	10	1621	c.1619A>T	c.(1618-1620)aAg>aTg	p.K540M	SLC22A10_ENST00000544661.1_3'UTR|SLC22A10_ENST00000526800.1_Missense_Mutation_p.K204M|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	540						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCAAGGAAAAGGCATAAAAA	0.284000													13	56					0	0	0.002450	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72202035	72202035	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:72202035C>T	ENST00000555818.1	+	20	5461	c.5113C>T	c.(5113-5115)Cgc>Tgc	p.R1705C	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R1684C|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R1159C|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R1684C	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1705					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TGAAAACCATCGCCCCTTGAG	0.507000													25	106					0	0	0.010818	0	0
EPSTI1	94240	broad.mit.edu	37	13	43566154	43566154	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:43566154C>T	ENST00000313640.7	-	1	212	c.148G>A	c.(148-150)Ggc>Agc	p.G50S	EPSTI1_ENST00000476830.2_5'UTR|EPSTI1_ENST00000398762.3_Missense_Mutation_p.G50S|EPSTI1_ENST00000313624.7_Missense_Mutation_p.G50S	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	50										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		CGCGAAGGGCCCTTAGGGGCT	0.672000													13	75					0	0	0.006122	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70016326	70016326	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:70016326G>A	ENST00000325845.7	-	23	2445	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C	RP11-419C5.2_ENST00000532298.1_Missense_Mutation_p.R158C|PDXDC2P_ENST00000531894.1_RNA|RP11-419C5.2_ENST00000525562.1_5'UTR														p.R158C(2)|p.R126C(1)		breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						TTCATCTTACGGATTTTAGCT	0.383000													9	33					0	0	0.004482	0	0
TGM7	116179	broad.mit.edu	37	15	43574084	43574084	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:43574084C>T	ENST00000452443.2	-	9	1313	c.1309G>A	c.(1309-1311)Gac>Aac	p.D437N		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	437					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TGGCGCTGGTCTGACCCCACC	0.552000													10	13					0	0	0.006214	0	0
RGS7BP	401190	broad.mit.edu	37	5	63802466	63802466	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:63802466G>A	ENST00000334025.2	+	1	341	c.15G>A	c.(13-15)ccG>ccA	p.P5P	RGS7BP_ENST00000508162.1_3'UTR	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	5					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		GTTCTGCACCGAATGGGCGCA	0.692000													7	17					0	0	0.003080	0	0
NR5A2	2494	broad.mit.edu	37	1	200017821	200017821	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:200017821G>A	ENST00000367362.3	+	5	1231	c.985G>A	c.(985-987)Gag>Aag	p.E329K	NR5A2_ENST00000236914.3_Missense_Mutation_p.E283K|NR5A2_ENST00000544748.1_Missense_Mutation_p.E257K	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	329					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					TTTGCAGCAAGAGCAGGCTAA	0.498000													23	60					0	0	0.003330	0	0
SNIP1	79753	broad.mit.edu	37	1	38005955	38005955	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:38005955G>A	ENST00000296215.6	-	3	801	c.729C>T	c.(727-729)gtC>gtT	p.V243V		NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	243					production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				TATATTTAATGACTACACCCC	0.453000													21	47					0	0	0.014323	0	0
GRID1	2894	broad.mit.edu	37	10	87484213	87484213	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:87484213C>T	ENST00000327946.7	-	11	1839	c.1754G>A	c.(1753-1755)aGg>aAg	p.R585K	GRID1_ENST00000536331.1_Missense_Mutation_p.R156K	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	585						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGCCTGTATCCTGTTCAACAC	0.547000										Multiple Myeloma(13;0.14)			14	13					0	0	0.002450	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76389361	76389361	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:76389361G>A	ENST00000307431.8	+	4	725	c.340G>A	c.(340-342)Gat>Aat	p.D114N	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.D118N|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.D114N|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.D90N	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	115	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GATGTTCAGTGATAGTGGCTG	0.483000													17	68					0	0	0.008871	0	0
BRINP1	1620	broad.mit.edu	37	9	121971207	121971207	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:121971207G>A	ENST00000265922.3	-	7	1396	c.935C>T	c.(934-936)tCa>tTa	p.S312L		NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		312					cell cycle arrest|cell death	cytoplasm	protein binding	p.S312L(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CTTCATAAATGATTTAAACTC	0.493000													8	31					0	0	0.004482	0	0
SLC44A5	204962	broad.mit.edu	37	1	75708618	75708618	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:75708618A>C	ENST00000370855.5	-	8	537	c.424T>G	c.(424-426)Tgg>Ggg	p.W142G	SLC44A5_ENST00000535611.1_Missense_Mutation_p.W12G|SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000370859.3_Missense_Mutation_p.W142G	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	142						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						TAGTCTTCCCAGTAGCTTTTG	0.373000													10	104					0	0	0.010729	0	0
CACNA1G	8913	broad.mit.edu	37	17	48678466	48678466	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:48678466C>T	ENST00000352832.5	+	18	4149	c.3777C>T	c.(3775-3777)gtC>gtT	p.V1259V	CACNA1G_ENST00000358244.5_Silent_p.V1259V|CACNA1G_ENST00000507896.1_Silent_p.V1282V|CACNA1G_ENST00000354983.4_Silent_p.V1259V|CACNA1G_ENST00000502264.1_Silent_p.V1259V|CACNA1G_ENST00000515411.1_Silent_p.V1282V|CACNA1G_ENST00000507609.1_Silent_p.V1282V|CACNA1G_ENST00000360761.4_Silent_p.V1259V|CACNA1G_ENST00000513964.1_Silent_p.V1282V|CACNA1G_ENST00000416767.4_Silent_p.V1282V|CACNA1G_ENST00000514717.1_Silent_p.V1259V|CACNA1G_ENST00000503485.1_Silent_p.V1282V|CACNA1G_ENST00000510366.1_Silent_p.V1282V|CACNA1G_ENST00000514181.1_Silent_p.V1282V|CACNA1G_ENST00000507336.1_Silent_p.V1282V|CACNA1G_ENST00000515165.1_Silent_p.V1282V|CACNA1G_ENST00000429973.2_Silent_p.V1282V|CACNA1G_ENST00000514079.1_Silent_p.V1282V|CACNA1G_ENST00000359106.5_Silent_p.V1282V|CACNA1G_ENST00000512389.1_Silent_p.V1282V|CACNA1G_ENST00000515765.1_Silent_p.V1282V|CACNA1G_ENST00000442258.2_Silent_p.V1259V|CACNA1G_ENST00000510115.1_Silent_p.V1259V|CACNA1G_ENST00000507510.2_Silent_p.V1282V|CACNA1G_ENST00000513689.2_Silent_p.V1282V|CACNA1G_ENST00000505165.1_Silent_p.V1282V	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1282					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACCACGTGGTCCTTGTCATCA	0.617000													60	21					0	0	0.014410	0	0
PTGFR	5737	broad.mit.edu	37	1	78959150	78959150	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:78959150G>A	ENST00000370756.3	+	2	959	c.722G>A	c.(721-723)aGa>aAa	p.R241K	PTGFR_ENST00000370757.3_Missense_Mutation_p.R241K|PTGFR_ENST00000370758.1_Missense_Mutation_p.R241K	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	241					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.R241T(4)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	AGACAAGGCAGATCTCATCAT	0.423000													30	43					0	0	0.008361	0	0
RYR3	6263	broad.mit.edu	37	15	34032190	34032190	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:34032190C>T	ENST00000389232.4	+	51	7884	c.7814C>T	c.(7813-7815)aCc>aTc	p.T2605I	RYR3_ENST00000415757.3_Missense_Mutation_p.T2605I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2605	4 X approximate repeats.				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)		CCTATTAACACCATGAAGTGA	0.443000													8	21					0	0	0.006214	0	0
JPH2	57158	broad.mit.edu	37	20	42744384	42744384	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:42744384C>T	ENST00000372980.3	-	4	2803	c.1931G>A	c.(1930-1932)gGg>gAg	p.G644E		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	644					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTTGGTCAGCCCTCGAGCCTC	0.701000													5	35					0	0	0.001984	0	0
NEB	4703	broad.mit.edu	37	2	152410392	152410392	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:152410392C>T	ENST00000397345.3	-	126	19778	c.19576G>A	c.(19576-19578)Gac>Aac	p.D6526N	NEB_ENST00000172853.10_Missense_Mutation_p.D4825N|NEB_ENST00000603639.1_Missense_Mutation_p.D6526N|NEB_ENST00000427231.2_Missense_Mutation_p.D6526N|NEB_ENST00000604864.1_Missense_Mutation_p.D6526N|NEB_ENST00000409198.1_Missense_Mutation_p.D4825N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	4825	Interaction with SVIL.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACTTGCAAGTCGGGGTGGCAA	0.547000													26	36					0	0	0.003954	0	0
PLXNA4	91584	broad.mit.edu	37	7	131925887	131925887	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:131925887C>T	ENST00000359827.3	-	5	2504	c.1542G>A	c.(1540-1542)caG>caA	p.Q514Q	PLXNA4_ENST00000321063.4_Silent_p.Q514Q			Q9HCM2	PLXA4_HUMAN	plexin A4	514	PSI 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CGCCGCAGCTCTGATACTGAC	0.592000													22	31					0	0	0.003330	0	0
ACTC1	70	broad.mit.edu	37	15	35085505	35085505	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:35085505G>A	ENST00000290378.4	-	3	1050	c.395C>T	c.(394-396)cCt>cTt	p.P132L	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	132					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GTACATGGCAGGGACATTGAA	0.572000													8	56					0	0	0.008291	0	0
RNF123	63891	broad.mit.edu	37	3	49743429	49743429	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:49743429C>T	ENST00000327697.6	+	25	2463	c.2319C>T	c.(2317-2319)tcC>tcT	p.S773S	RNF123_ENST00000432042.1_Silent_p.S627S	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	773						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TGGGTGTCTCCGATGATGTCA	0.587000													29	49					0	0	0.010818	0	0
U2AF2	11338	broad.mit.edu	37	19	56173923	56173923	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:56173923C>T	ENST00000450554.2	+	6	1501	c.542C>T	c.(541-543)gCc>gTc	p.A181V	CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000590551.1_Missense_Mutation_p.A17V|CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000308924.4_Missense_Mutation_p.A181V	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	181	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CTGACCCAGGCCCCTGGCAAC	0.597000													11	72					0	0	0.010729	0	0
XCR1	2829	broad.mit.edu	37	3	46063217	46063217	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:46063217G>A	ENST00000309285.3	-	2	579	c.223C>T	c.(223-225)Ctc>Ttc	p.L75F	XCR1_ENST00000542109.1_Missense_Mutation_p.L75F	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	75					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AGGTCTGAGAGGCACAGGTTG	0.557000													17	23					0	0	0.004007	0	0
GPT2	84706	broad.mit.edu	37	16	46956280	46956280	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:46956280C>T	ENST00000440783.2	+	9	1529	c.864C>T	c.(862-864)gtC>gtT	p.V288V	GPT2_ENST00000340124.4_Silent_p.V388V	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	388					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TGGACATTGTCGTGAACCCCC	0.627000													16	42					0	0	0.003163	0	0
UBC	7316	broad.mit.edu	37	12	125397978	125397978	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:125397978G>A	ENST00000536769.1	-	1	1916	c.340C>T	c.(340-342)Cct>Tct	p.P114S	UBC_ENST00000546120.1_Intron|UBC_ENST00000339647.5_Missense_Mutation_p.P114S|UBC_ENST00000538617.1_Missense_Mutation_p.P114S			P0CG48	UBC_HUMAN	ubiquitin C	114	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.G111fs*15(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGCTGGTCAGGAGGAATGCCT	0.542000													62	46					0	0	0.014410	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51647846	51647846	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:51647846C>T	ENST00000317643.6	+	2	686	c.617C>T	c.(616-618)cCa>cTa	p.P206L	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	206	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		ACCCTCATCCCACAGCCCCAG	0.652000													22	42					0	0	0.010504	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999286	27999286	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:27999286C>T	ENST00000441525.1	-	1	280	c.166G>A	c.(166-168)Gat>Aat	p.D56N		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	56										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AAACCACCATCCCTGGTATCA	0.517000													6	21					0	0	0.001168	0	0
NALCN	259232	broad.mit.edu	37	13	101712206	101712206	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:101712206C>T	ENST00000251127.6	-	42	4950	c.4869G>A	c.(4867-4869)acG>acA	p.T1623T		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1623						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTTGGCATTCGTGTCCTCAC	0.542000													28	33					0	0	0.008361	0	0
MEFV	4210	broad.mit.edu	37	16	3298943	3298943	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:3298943C>T	ENST00000219596.1	-	4	1361	c.1322G>A	c.(1321-1323)cGa>cAa	p.R441Q	MEFV_ENST00000536379.1_Missense_Mutation_p.R230Q|MEFV_ENST00000541159.1_Missense_Mutation_p.R230Q|MEFV_ENST00000339854.4_Missense_Mutation_p.R261Q	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	441					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCCATAGGATCGCTGCTCCTC	0.517000													46	89					0	0	0.014410	0	0
WT1	7490	broad.mit.edu	37	11	32439132	32439132	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:32439132G>A	ENST00000332351.3	-	4	1225	c.941C>T	c.(940-942)aCc>aTc	p.T314I	WT1_ENST00000530998.1_Missense_Mutation_p.T102I|WT1_ENST00000379079.2_Missense_Mutation_p.T102I|WT1_ENST00000448076.3_Missense_Mutation_p.T314I	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	246					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CCCCTTTAAGGTGGCTCCTAA	0.373000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				14	32					0	0	0.004990	0	0
GRID2	2895	broad.mit.edu	37	4	94436461	94436461	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:94436461C>T	ENST00000282020.4	+	13	2350	c.2092C>T	c.(2092-2094)Cct>Tct	p.P698S	GRID2_ENST00000510992.1_Missense_Mutation_p.P603S	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	698					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)	AGGACTGAATCCTTTTGAGAG	0.478000													15	7					0	0	0.004007	0	0
SLC25A2	83884	broad.mit.edu	37	5	140682711	140682711	+	Missense_Mutation	SNP	G	G	A	rs146929069	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140682711G>A	ENST00000239451.4	-	1	901	c.722C>T	c.(721-723)tCc>tTc	p.S241F		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	241					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CCCATACATGGAAAGAACTTG	0.413000													7	40					0	0	0.001984	0	0
DSC3	1825	broad.mit.edu	37	18	28598740	28598740	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:28598740C>T	ENST00000434452.1	-	8	1123	c.969G>A	c.(967-969)atG>atA	p.M323I	DSC3_ENST00000360428.4_Missense_Mutation_p.M323I	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	323	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CTTGTACTTTCATTATCAATG	0.328000													15	35					0	0	0.004007	0	0
MAP1B	4131	broad.mit.edu	37	5	71411610	71411610	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:71411610C>G	ENST00000296755.7	+	2	568	c.270C>G	c.(268-270)ttC>ttG	p.F90L	MAP1B_ENST00000504183.1_3'UTR	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	90						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTGCAAGATTCTCTCCTGAAG	0.468000													14	28					0	0	0.001855	0	0
CCNJL	79616	broad.mit.edu	37	5	159686609	159686609	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:159686609G>A	ENST00000393977.3	-	5	879	c.594C>T	c.(592-594)ttC>ttT	p.F198F	CCNJL_ENST00000257536.7_Silent_p.F150F|CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000519673.1_Silent_p.F150F|CCNJL_ENST00000541762.1_Silent_p.F149F	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	198						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	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)			AGTAGTCCAGGAAGTGGGCAG	0.622000													6	34					0	0	0.001984	0	0
DMPK	1760	broad.mit.edu	37	19	46280937	46280937	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:46280937G>A	ENST00000600757.1	-	6	1587	c.900C>T	c.(898-900)atC>atT	p.I300I	DMPK_ENST00000343373.4_Silent_p.I300I|DMPK_ENST00000291270.4_Silent_p.I290I|DMPK_ENST00000354227.5_Silent_p.I290I|DMPK_ENST00000447742.2_Silent_p.I290I|DMPK_ENST00000458663.2_Silent_p.I290I			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	300	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TGTAGTGGACGATCTTGCCAT	0.617000													52	105					0	0	0.014410	0	0
SI	6476	broad.mit.edu	37	3	164739156	164739156	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:164739156T>C	ENST00000264382.3	-	27	3177	c.3115A>G	c.(3115-3117)Aag>Gag	p.K1039E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1039	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)	TATCTCTTCTTTTGGGGATCA	0.328000										HNSCC(35;0.089)			44	78					0	0	0.014410	0	0
FAM90A1	55138	broad.mit.edu	37	12	8375251	8375251	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:8375251T>A	ENST00000538603.1	-	7	1120	c.562A>T	c.(562-564)Aaa>Taa	p.K188*	FAM90A1_ENST00000307435.6_Nonsense_Mutation_p.K188*	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	188							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		AGACTGGCTTTTCTGAGGGGA	0.587000													49	27					0	0	0.014410	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090671	91090671	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:91090671C>T	ENST00000373094.1	+	1	1013	c.168C>T	c.(166-168)tcC>tcT	p.S56S	PCDH11X_ENST00000373097.1_Silent_p.S56S|PCDH11X_ENST00000298274.8_Silent_p.S56S|PCDH11X_ENST00000361655.2_Silent_p.S56S|PCDH11X_ENST00000373088.1_Silent_p.S56S|PCDH11X_ENST00000406881.1_Silent_p.S56S|PCDH11X_ENST00000361724.1_Silent_p.S56S|PCDH11X_ENST00000504220.1_Silent_p.S56S|PCDH11X_ENST00000395337.2_Silent_p.S56S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	56	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CAAACAAGTCCTTGACAACTG	0.463000													12	27					0	0	0.010729	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60348291	60348291	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:60348291G>A	ENST00000581291.1	-	0	567																				breast(2)|kidney(1)|lung(2)	5						GTTCCGTATCGATCCCTGAAG	0.547000													83	59					0	0	0.014410	0	0
CNOT10	25904	broad.mit.edu	37	3	32769172	32769172	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:32769172C>T	ENST00000328834.5	+	10	1341	c.1025C>T	c.(1024-1026)tCa>tTa	p.S342L	CNOT10_ENST00000463697.1_3'UTR|CNOT10_ENST00000331889.6_Missense_Mutation_p.S342L|CNOT10_ENST00000538368.1_Missense_Mutation_p.S114L|CNOT10_ENST00000454516.2_Missense_Mutation_p.S402L	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	342					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						AAAAAATTTTCAGGAAGACCC	0.338000													11	32					0	0	0.008291	0	0
CDH23	64072	broad.mit.edu	37	10	73464754	73464754	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:73464754C>T	ENST00000224721.6	+	24	2840	c.2835C>T	c.(2833-2835)atC>atT	p.I945I	CDH23_ENST00000299366.7_Silent_p.I985I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	940	Cadherin 9.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACTTCCTCATCAACAGCAGCA	0.672000													13	55					0	0	0.002450	0	0
RNF165	494470	broad.mit.edu	37	18	44030681	44030681	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:44030681C>T	ENST00000269439.7	+	6	786	c.735C>T	c.(733-735)ctC>ctT	p.L245L	RNF165_ENST00000543885.1_Silent_p.L53L	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	245							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		TGCTGCAGCTCGAGGACAGGT	0.517000													14	41					0	0	0.003163	0	0
TRAV1-1	28693	broad.mit.edu	37	14	22090085	22090085	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:22090085C>T	ENST00000542354.1	+	0	95																											CTCTATGTTTCCATGAAGATG	0.428000													11	38					0	0	0.013537	0	0
DCHS2	54798	broad.mit.edu	37	4	155256162	155256162	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:155256162G>A	ENST00000357232.3	-	8	1073	c.1074C>T	c.(1072-1074)gtC>gtT	p.V358V	DCHS2_ENST00000339452.1_Silent_p.V857V|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	358	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CGGCATTAATGACAGCTGTGA	0.433000													15	10					0	0	0.002450	0	0
CLCN1	1180	broad.mit.edu	37	7	143049049	143049049	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:143049049G>A	ENST00000343257.2	+	23	3045	c.2958G>A	c.(2956-2958)ctG>ctA	p.L986L		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	986					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AGGATGAACTGATCCTTTGAC	0.617000													29	69					0	0	0.009535	0	0
DEPDC5	9681	broad.mit.edu	37	22	32215160	32215160	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:32215160C>T	ENST00000400246.1	+	22	1961	c.1819C>T	c.(1819-1821)Ccc>Tcc	p.P607S	DEPDC5_ENST00000382111.2_Missense_Mutation_p.P607S|DEPDC5_ENST00000266091.3_Missense_Mutation_p.P607S|DEPDC5_ENST00000536766.1_Missense_Mutation_p.P579S|DEPDC5_ENST00000382105.2_Missense_Mutation_p.P607S|DEPDC5_ENST00000535622.1_Missense_Mutation_p.P607S|DEPDC5_ENST00000400249.2_Missense_Mutation_p.P607S|DEPDC5_ENST00000382112.3_Missense_Mutation_p.P607S|DEPDC5_ENST00000400248.1_Missense_Mutation_p.P607S			O75140	DEPD5_HUMAN	DEP domain containing 5	607					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						CTCTCGGATGCCCATGAAGCT	0.542000													13	47					0	0	0.002450	0	0
GRIN2B	2904	broad.mit.edu	37	12	13715851	13715851	+	Missense_Mutation	SNP	G	G	A	rs143379788		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:13715851G>A	ENST00000279593.3	-	13	4530	c.4321C>T	c.(4321-4323)Cgt>Tgt	p.R1441C		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1441					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)	TTCTGGAAACGGGCTGGCACG	0.607000													32	17					0	0	0.013726	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086553	39086553	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:39086553C>T	ENST00000400482.3	-	3	1496	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	KCNJ6_ENST00000288309.6_Missense_Mutation_p.E303K	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	303					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	ACCACAATTTCCAGTTCCTCT	0.478000													30	37					0	0	0.012213	0	0
TBX18	9096	broad.mit.edu	37	6	85446431	85446431	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:85446431G>A	ENST00000369663.5	-	8	2133	c.1796C>T	c.(1795-1797)tCa>tTa	p.S599L	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	599					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TACTTGAGATGATGACAGAGT	0.428000													21	37					0	0	0.003330	0	0
NNMT	4837	broad.mit.edu	37	11	114168875	114168875	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:114168875G>A	ENST00000535401.1	+	4	621	c.357G>A	c.(355-357)ggG>ggA	p.G119G	RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000541754.1_5'UTR|NNMT_ENST00000299964.3_Silent_p.G119G|NNMT_ENST00000542647.1_Intron|NNMT_ENST00000545255.1_5'UTR			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	119					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	ATCTTGAAGGGAACAGGTAGA	0.488000													8	35					0	0	0.003080	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73315857	73315857	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:73315857G>A	ENST00000258098.6	-	3	1129	c.889C>T	c.(889-891)Ccc>Tcc	p.P297S	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	297					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						AACAGCTTGGGGGACTGTGCA	0.612000													10	5					0	0	0.006214	0	0
TAS1R2	80834	broad.mit.edu	37	1	19180731	19180731	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:19180731G>A	ENST00000375371.3	-	3	1254	c.1233C>T	c.(1231-1233)acC>acT	p.T411T	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	411					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCACCCTCTTGGTGCAGGTGC	0.627000													10	29					0	0	0.013537	0	0
PAPLN	89932	broad.mit.edu	37	14	73735314	73735314	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:73735314G>A	ENST00000427855.1	+	26	3652	c.3550G>A	c.(3550-3552)Gat>Aat	p.D1184N	PAPLN_ENST00000555445.1_Missense_Mutation_p.D1168N|PAPLN_ENST00000381166.3_Intron|PAPLN_ENST00000554301.1_Missense_Mutation_p.D1184N|PAPLN_ENST00000340738.5_Missense_Mutation_p.D1157N			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	1184	Ig-like C2-type 3.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CCAGTCCCCAGATGGCACGCT	0.637000													26	59					0	0	0.006320	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960521	73960521	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:73960521G>A	ENST00000373468.1	-	3	4522	c.3871C>T	c.(3871-3873)Cca>Tca	p.P1291S	KIAA2022_ENST00000055682.5_Missense_Mutation_p.P1291S			Q5QGS0	K2022_HUMAN	KIAA2022	1291					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						CTCCAGCCTGGGCTGCTCTCC	0.507000													35	12					0	0	0.003755	0	0
KRT32	3882	broad.mit.edu	37	17	39619137	39619137	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:39619137G>A	ENST00000225899.3	-	6	1265	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	388	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CCCTCCAGCCGGGCCCGGACG	0.637000													45	34					0	0	0.014410	0	0
LMO7	4008	broad.mit.edu	37	13	76397934	76397934	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:76397934C>T	ENST00000357063.3	+	16	4290	c.3030C>T	c.(3028-3030)tcC>tcT	p.S1010S	LMO7_ENST00000321797.8_Silent_p.S725S|LMO7_ENST00000377534.3_Silent_p.S1010S|LMO7_ENST00000341547.4_Silent_p.S676S|LMO7_ENST00000465261.2_Silent_p.S725S|LMO7_ENST00000526202.1_Silent_p.S575S			Q8WWI1	LMO7_HUMAN	LIM domain 7	1010						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CATTGTCTTCCACATCTGGTC	0.463000													13	18					0	0	0.013537	0	0
OR52I2	143502	broad.mit.edu	37	11	4608395	4608395	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:4608395G>A	ENST00000312614.4	+	1	375	c.353G>A	c.(352-354)gGa>gAa	p.G118E		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCTGCTCAGGAGACAGCTCA	0.512000													28	126					0	0	0.004656	0	0
UQCC1	55245	broad.mit.edu	37	20	33971916	33971916	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:33971916G>A	ENST00000397554.1	-	3	160	c.150C>T	c.(148-150)tcC>tcT	p.S50S	UQCC_ENST00000542501.1_Silent_p.S50S|UQCC_ENST00000359226.2_Silent_p.S50S|UQCC_ENST00000349714.5_Silent_p.S50S|UQCC_ENST00000374385.5_Silent_p.S50S|UQCC_ENST00000374380.2_Intron|UQCC_ENST00000374377.5_Intron|UQCC_ENST00000407996.2_Silent_p.S50S|UQCC_ENST00000540457.1_Intron|UQCC_ENST00000491125.1_5'UTR|UQCC_ENST00000374384.2_Silent_p.S50S|UQCC_ENST00000397556.3_Intron			Q9NVA1	UQCC_HUMAN		50						cytoplasmic membrane-bounded vesicle				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CACATGCTCGGGACTGGCTCA	0.438000													9	39					0	0	0.004482	0	0
TG	7038	broad.mit.edu	37	8	133925407	133925407	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:133925407C>T	ENST00000220616.4	+	20	4315	c.4275C>T	c.(4273-4275)ctC>ctT	p.L1425L	TG_ENST00000377869.1_Silent_p.L1425L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1425					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCCGCTTCCTCCAAGGGGACC	0.557000													7	41					0	0	0.001984	0	0
BCL11B	64919	broad.mit.edu	37	14	99724148	99724148	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:99724148G>A	ENST00000345514.2	-	2	353	c.87C>T	c.(85-87)atC>atT	p.I29I	BCL11B_ENST00000357195.3_Silent_p.I29I|BCL11B_ENST00000443726.2_Intron	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	0						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CTTCTTCGAGGATGGCGGCCT	0.592000			T	TLX3	T-ALL								8	29					0	0	0.006214	0	0
ASXL3	80816	broad.mit.edu	37	18	31326339	31326339	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:31326339G>A	ENST00000269197.5	+	12	6527	c.6527G>A	c.(6526-6528)gGg>gAg	p.G2176E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2176					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						AAGTCCATTGGGATTTTGGGA	0.483000													31	78					0	0	0.003755	0	0
RARS	5917	broad.mit.edu	37	5	167944974	167944974	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:167944974C>T	ENST00000231572.3	+	14	1834	c.1780C>T	c.(1780-1782)Ctc>Ttc	p.L594F	RARS_ENST00000538719.1_Missense_Mutation_p.L388F	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	594					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		TGACTTATTTCTCCACACTCT	0.408000													10	27					0	0	0.006214	0	0
MLKL	197259	broad.mit.edu	37	16	74709572	74709572	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:74709572G>A	ENST00000308807.7	-	8	1592	c.1129C>T	c.(1129-1131)Ctc>Ttc	p.L377F	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	377	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TGAGGTGAGAGATATGCTGTA	0.393000													23	56					0	0	0.003954	0	0
SLC22A14	9389	broad.mit.edu	37	3	38348031	38348031	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:38348031G>A	ENST00000273173.4	+	1	605	c.514G>A	c.(514-516)Gag>Aag	p.E172K	SLC22A14_ENST00000448498.1_Missense_Mutation_p.E172K	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	172						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GCTGATCAATGAGGTATGTCT	0.498000													30	53					0	0	0.012213	0	0
PLGRKT	55848	broad.mit.edu	37	9	5361791	5361791	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:5361791A>T	ENST00000223864.2	-	4	400	c.179T>A	c.(178-180)tTt>tAt	p.F60Y	PLGRKT_ENST00000482696.1_5'UTR	NM_018465.3	NP_060935.2	Q9HBL7	CI046_HUMAN	plasminogen receptor, C-terminal lysine transmembrane protein	60						integral to membrane											AAGGCCAAAAAAAGTTCCAAA	0.388000													12	27					0	0	0.013537	0	0
MYL1	4632	broad.mit.edu	37	2	211158512	211158512	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:211158512T>A	ENST00000352451.3	-	5	638	c.491A>T	c.(490-492)aAa>aTa	p.K164I	MYL1_ENST00000341685.4_Missense_Mutation_p.K120I|MYL1_ENST00000496436.1_5'UTR	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	164	EF-hand 3.				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		TTCTTCCTCTTTCATCTTTTC	0.448000													63	124					0	0	0.014410	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17699657	17699657	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:17699657C>T	ENST00000399080.2	-	1	49	c.26G>A	c.(25-27)cGg>cAg	p.R9Q		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	9										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTCGGCCATCCGCGGCGTGGG	0.612000													30	71					0	0	0.013726	0	0
CNTN5	53942	broad.mit.edu	37	11	100126527	100126527	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:100126527G>A	ENST00000524871.1	+	17	2331	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.E607K|CNTN5_ENST00000528682.1_Missense_Mutation_p.E681K|CNTN5_ENST00000527185.1_Missense_Mutation_p.E681K|CNTN5_ENST00000279463.3_Missense_Mutation_p.E681K	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	681	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AATTGTTGAGGAAATAACCGA	0.478000													20	45					0	0	0.008871	0	0
GATA4	2626	broad.mit.edu	37	8	11606581	11606581	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:11606581C>T	ENST00000335135.4	+	3	1328	c.770C>T	c.(769-771)cCt>cTt	p.P257L	GATA4_ENST00000528712.1_Missense_Mutation_p.P51L|GATA4_ENST00000532059.1_Missense_Mutation_p.P258L	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	257					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CTCATCAAGCCTCAGCGCCGG	0.617000													15	20					0	0	0.002450	0	0
CDK18	5129	broad.mit.edu	37	1	205499779	205499779	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:205499779G>A	ENST00000360066.2	+	15	1637	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K	CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Missense_Mutation_p.E446K|CDK18_ENST00000506784.1_Missense_Mutation_p.E476K	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	444							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CTCCCTGAAGGAGATCCAGCT	0.612000													13	14					0	0	0.003163	0	0
TIAM2	26230	broad.mit.edu	37	6	155451112	155451112	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:155451112C>T	ENST00000461783.3	+	6	2028	c.755C>T	c.(754-756)tCc>tTc	p.S252F	TIAM2_ENST00000456144.1_Missense_Mutation_p.S252F|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Missense_Mutation_p.S252F|TIAM2_ENST00000318981.5_Missense_Mutation_p.S252F|TIAM2_ENST00000360366.4_Missense_Mutation_p.S252F			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	252					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGGTACGACTCCCCTTGGGGC	0.657000													27	71					0	0	0.006320	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092380	30092380	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:30092380C>T	ENST00000567636.1	+	0	755					NR_003558.1																						ACGTGGTGTTCCACATTTGCC	0.562000													8	33					0	0	0.003080	0	0
AGXT2	64902	broad.mit.edu	37	5	35037047	35037047	+	Splice_Site	SNP	C	C	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:35037047C>A	ENST00000231420.6	-	4	686	c.486_splice	c.e4+1	p.K162_splice		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	162					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	AGCATTGTACCTTAAGAGGCT	0.502000													8	52					1.58986e-06	1.72896e-06	0.008291	1	0
THSD7B	80731	broad.mit.edu	37	2	137990485	137990485	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:137990485C>T	ENST00000409968.1	+	9	2110	c.1932C>T	c.(1930-1932)ccC>ccT	p.P644P	THSD7B_ENST00000272643.3_Silent_p.P644P|THSD7B_ENST00000413152.2_Silent_p.P613P|THSD7B_ENST00000543459.1_Intron					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)		AGCCATGTCCCCCTAGTCAGG	0.458000													16	28					0	0	0.006122	0	0
CPNE4	131034	broad.mit.edu	37	3	131274351	131274351	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:131274351G>A	ENST00000512055.1	-	16	3232	c.1106C>T	c.(1105-1107)cCa>cTa	p.P369L	CPNE4_ENST00000511604.1_Missense_Mutation_p.P369L|CPNE4_ENST00000429747.1_Missense_Mutation_p.P369L|CPNE4_ENST00000502818.1_Missense_Mutation_p.P387L|CPNE4_ENST00000512332.1_Missense_Mutation_p.P387L			Q96A23	CPNE4_HUMAN	copine IV	369	VWFA.									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						CGTGTACTCTGGAGGTATCCT	0.428000													12	38					0	0	0.002450	0	0
ADNP	23394	broad.mit.edu	37	20	49510758	49510758	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:49510758A>T	ENST00000396029.3	-	5	1060	c.493T>A	c.(493-495)Tat>Aat	p.Y165N	ADNP_ENST00000371602.4_Missense_Mutation_p.Y165N|ADNP_ENST00000349014.3_Missense_Mutation_p.Y165N|ADNP_ENST00000396032.3_Missense_Mutation_p.Y165N	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	165						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TTACAGTAATAAACAGCTTGC	0.428000													19	111					0	0	0.014323	0	0
GSTM2	2946	broad.mit.edu	37	1	110212149	110212149	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:110212149G>A	ENST00000369831.2	+	5	410	c.316G>A	c.(316-318)Gac>Aac	p.D106N	GSTM2_ENST00000241337.4_Missense_Mutation_p.D106N|GSTM2_ENST00000369827.3_Missense_Mutation_p.D104N|GSTM2_ENST00000414179.2_Missense_Mutation_p.D2N|GSTM2_ENST00000442650.1_Missense_Mutation_p.D106N|GSTM2_ENST00000460717.3_Missense_Mutation_p.D106N|GSTM2_ENST00000464206.1_Intron|GSTM2_ENST00000369829.2_Missense_Mutation_p.D106N					glutathione S-transferase mu 2 (muscle)											kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)		CCAGTTTATGGACAGCCGTAT	0.542000													13	18					0	0	0.002450	0	0
MIR1269A	100302177	broad.mit.edu	37	4	67142602	67142602	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:67142602G>A	ENST00000408636.1	+	0	61					NR_031673.1																						accacctgaggaatgcctgga	0.547000													20	16					0	0	0.007413	0	0
FAM19A1	407738	broad.mit.edu	37	3	68466508	68466508	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:68466508A>T	ENST00000478136.1	+	3	687	c.197A>T	c.(196-198)aAg>aTg	p.K66M	FAM19A1_ENST00000496687.1_Missense_Mutation_p.K66M|FAM19A1_ENST00000491017.1_3'UTR	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	66						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		CAAACAGTAAAGTGTTCCTGT	0.483000													27	69					0	0	0.006320	0	0
ADIPOR2	79602	broad.mit.edu	37	12	1893198	1893198	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:1893198C>T	ENST00000357103.4	+	7	1242	c.991C>T	c.(991-993)Cgg>Tgg	p.R331W		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	331					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			GTATGCTGCCCGGATCCCCGA	0.547000													32	20					0	0	0.013726	0	0
C13orf35	400165	broad.mit.edu	37	13	113333696	113333696	+	Translation_Start_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:113333696G>A	ENST00000356049.1	+	2	761	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_207440.1	NP_997323.1	Q6ZP68	CM035_HUMAN	chromosome 13 open reading frame 35	1										breast(1)|lung(2)|ovary(1)|prostate(1)	5	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		all cancers(43;0.201)			TTGTTAGGATGAACTCACCAG	0.552000													7	35					0	0	0.001984	0	0
KHDC1	80759	broad.mit.edu	37	6	73951256	73951256	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:73951256G>A	ENST00000370384.3	-	5	1210	c.710C>T	c.(709-711)cCg>cTg	p.P237L	RP11-257K9.8_ENST00000423730.3_Intron|KHDC1_ENST00000257765.5_Missense_Mutation_p.P164L	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	237						integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						CCTTAATTACGGATACAGTGA	0.468000													33	61					0	0	0.003755	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37486386	37486386	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:37486386G>A	ENST00000374660.1	+	35	2982	c.2883G>A	c.(2881-2883)aaG>aaA	p.K961K	ANKRD30A_ENST00000361713.1_Silent_p.K842K|ANKRD30A_ENST00000602533.1_Silent_p.K842K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1010						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGGAATTGAAGAATGAACAAA	0.338000													4	31					0	0	0.004482	0	0
CPAMD8	27151	broad.mit.edu	37	19	17091331	17091331	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:17091331G>A	ENST00000443236.1	-	14	1733	c.1702C>T	c.(1702-1704)Cgt>Tgt	p.R568C	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	521						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGTGTTAAACGAATCGGTTTC	0.592000													17	62					0	0	0.006122	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141540	133141540	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:133141540G>A	ENST00000388996.4	-	15	3008	c.2588C>T	c.(2587-2589)tCa>tTa	p.S863L	KCNQ3_ENST00000521134.1_Missense_Mutation_p.S743L|KCNQ3_ENST00000519445.1_Missense_Mutation_p.S851L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	863					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGTCCATACTGAATCAGAAAT	0.532000													11	43					0	0	0.013537	0	0
IFNA2	3440	broad.mit.edu	37	9	21384864	21384864	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:21384864C>T	ENST00000380206.2	-	1	532	c.465G>A	c.(463-465)gaG>gaA	p.E155E		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	155					blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TGTATTTCTTCTCTTTCAGAT	0.438000													32	161					0	0	0.013726	0	0
VIT	5212	broad.mit.edu	37	2	36982190	36982190	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:36982190C>T	ENST00000379242.3	+	5	704	c.402C>T	c.(400-402)atC>atT	p.I134I	VIT_ENST00000401530.1_Silent_p.I134I|VIT_ENST00000404084.1_Silent_p.I112I|VIT_ENST00000389975.3_Silent_p.I134I|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379241.3_Silent_p.I134I|VIT_ENST00000457137.2_Silent_p.I134I	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	134						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				AATCCTTTATCGTCTTAGGTA	0.443000													7	32					0	0	0.001984	0	0
SOGA2	23255	broad.mit.edu	37	18	8798221	8798221	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:8798221T>C	ENST00000359865.3	+	10	2510	c.2368T>C	c.(2368-2370)Tcc>Ccc	p.S790P	SOGA2_ENST00000400050.3_Missense_Mutation_p.S749P|SOGA2_ENST00000306329.11_Missense_Mutation_p.S1109P|SOGA2_ENST00000517570.1_Missense_Mutation_p.S749P|SOGA2_ENST00000518815.1_Missense_Mutation_p.S105P|SOGA2_ENST00000306285.7_Missense_Mutation_p.S105P	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1100																	CTCCCCACACTCCCGGGTGCA	0.672000													13	25					0	0	0.003163	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855945	12855945	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:12855945C>T	ENST00000332296.7	+	4	1328	c.1225C>T	c.(1225-1227)Ctg>Ttg	p.L409L	PRAMEF1_ENST00000400814.3_Silent_p.L164L	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	409										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|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)		CAAGTTAAGCCTGGAGACGTA	0.537000													34	100					0	0	0.011902	0	0
LUZP2	338645	broad.mit.edu	37	11	24936033	24936033	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:24936033C>T	ENST00000533227.1	+	7	500	c.213C>T	c.(211-213)atC>atT	p.I71I	LUZP2_ENST00000336930.6_Silent_p.I157I	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	157						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CAAAAAAAATCCAAGCCCAGC	0.343000													8	21					0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179425679	179425679	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179425679C>T	ENST00000589042.1	-	326	85404	c.85180G>A	c.(85180-85182)Gat>Aat	p.D28394N	TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D19329N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D19454N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D25826N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D19521N|TTN_ENST00000591111.1_Missense_Mutation_p.D26753N|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26753	Fibronectin type-III 107.						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)			TCTATACCATCCTTGGCCCAG	0.418000													24	63					0	0	0.002780	0	0
CFI	3426	broad.mit.edu	37	4	110667403	110667403	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:110667403G>A	ENST00000394634.2	-	11	1611	c.1404C>T	c.(1402-1404)atC>atT	p.I468I	CFI_ENST00000512148.1_Silent_p.I461I|CFI_ENST00000394635.3_Silent_p.I476I	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	468	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		AGCCAGAAACGATGCATGTAT	0.408000													7	27					0	0	0.001984	0	0
MLH3	27030	broad.mit.edu	37	14	75513753	75513753	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:75513753G>A	ENST00000355774.2	-	2	2821	c.2606C>T	c.(2605-2607)tCa>tTa	p.S869L	MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.S869L|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000556740.1_Missense_Mutation_p.S869L|MLH3_ENST00000556257.1_Missense_Mutation_p.S869L	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	869					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TGATTCAGATGACTTCTCAAG	0.383000								Mismatch excision repair (MMR)					22	123					0	0	0.002780	0	0
TACR2	6865	broad.mit.edu	37	10	71174784	71174784	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:71174784G>A	ENST00000373306.4	-	2	1047	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	168					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	CGGTGGAGTAGAAGCACTGAG	0.652000													10	37					0	0	0.010729	0	0
ITIH3	3699	broad.mit.edu	37	3	52836469	52836469	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:52836469C>T	ENST00000449956.2	+	12	1509	c.1503C>T	c.(1501-1503)atC>atT	p.I501I	ITIH3_ENST00000416872.2_Silent_p.I501I	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	501					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GCTCTGAGATCGTGGTGGCCG	0.602000													10	31					0	0	0.001855	0	0
TRPM6	140803	broad.mit.edu	37	9	77390969	77390969	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:77390969G>A	ENST00000451710.3	-	24	3470	c.3233C>T	c.(3232-3234)tCc>tTc	p.S1078F	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.S1078F|TRPM6_ENST00000449912.2_Missense_Mutation_p.S1073F|TRPM6_ENST00000360774.1_Missense_Mutation_p.S1078F|TRPM6_ENST00000361255.3_Missense_Mutation_p.S1073F|TRPM6_ENST00000376872.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1078					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						ATTTGAAATGGATTCCATATC	0.428000													10	52					0	0	0.008291	0	0
ZNF177	7730	broad.mit.edu	37	19	9491886	9491886	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9491886C>T	ENST00000541595.2	+	12	1028	c.399C>T	c.(397-399)ttC>ttT	p.F133F	ZNF177_ENST00000343499.4_Silent_p.F133F|ZNF177_ENST00000589262.1_Silent_p.F293F|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000602738.1_Silent_p.F133F|ZNF177_ENST00000434737.2_Silent_p.F293F|ZNF177_ENST00000446085.4_3'UTR	NM_001172650.2	NP_001166121.1	Q13360	ZN177_HUMAN	zinc finger protein 177	133					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						GGAAAGCCTTCATTTTTCAGT	0.438000													7	62					0	0	0.001984	0	0
TBPL2	387332	broad.mit.edu	37	14	55907199	55907199	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:55907199G>A	ENST00000247219.5	-	1	135	c.65C>T	c.(64-66)cCg>cTg	p.P22L		NM_199047.2	NP_950248.1	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	22	Poly-Pro.				multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						GGGTGGGGGCGGGTAAGAGGG	0.692000													20	40					0	0	0.014323	0	0
UNC79	57578	broad.mit.edu	37	14	94071282	94071282	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:94071282C>T	ENST00000553484.1	+	27	3949	c.3795C>T	c.(3793-3795)ctC>ctT	p.L1265L	UNC79_ENST00000555664.1_Intron|UNC79_ENST00000393151.2_Intron|UNC79_ENST00000256339.4_Intron			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1252						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTCCAGCTCTCGGTGGGACAC	0.473000													5	6					0	0	0.001168	0	0
C9orf24	84688	broad.mit.edu	37	9	34397524	34397524	+	Silent	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:34397524G>A	ENST00000297623.2	-	1	306	c.108C>T	c.(106-108)gcC>gcT	p.A36A		NM_032596.3	NP_115985.2	Q8NCR6	CI024_HUMAN	chromosome 9 open reading frame 24	36										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		TGGCTTCCCAGGCACACAGGG	0.557000													10	77					0	0	0.008291	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818734	159818734	+	RNA	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:159818734G>A	ENST00000497452.1	-	0	517																											AGGAGGGAACGAAGTCACCGA	0.507000													19	67					0	0	0.006122	0	0
NLRC4	58484	broad.mit.edu	37	2	32476179	32476179	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:32476179C>T	ENST00000404025.2	-	5	1242	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	NLRC4_ENST00000360906.5_Missense_Mutation_p.E252K|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.E252K			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	252	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGCTTGAATTCATTGTAGCCA	0.498000													37	68					0	0	0.006999	0	0
ZNF592	9640	broad.mit.edu	37	15	85326275	85326275	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:85326275C>T	ENST00000299927.3	+	1	391	c.369C>T	c.(367-369)ttC>ttT	p.F123F	ZNF592_ENST00000560079.2_Silent_p.F123F			Q92610	ZN592_HUMAN	zinc finger protein 592	123					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCAGGAGTTTCCCTGGCAAAC	0.502000													26	40					0	0	0.003954	0	0
ACAN	176	broad.mit.edu	37	15	89401939	89401939	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:89401939C>T	ENST00000439576.2	+	12	6497	c.6123C>T	c.(6121-6123)ttC>ttT	p.F2041F	ACAN_ENST00000352105.7_Silent_p.F2041F|ACAN_ENST00000559004.1_Silent_p.F2041F|ACAN_ENST00000561243.1_Silent_p.F2041F	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2041					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTTCTGAGTTCGTGGAGGGTG	0.502000													9	19					0	0	0.008291	0	0
MEI1	150365	broad.mit.edu	37	22	42189900	42189900	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:42189900G>A	ENST00000401548.3	+	27	3453	c.3413G>A	c.(3412-3414)cGg>cAg	p.R1138Q	MEI1_ENST00000400107.1_Missense_Mutation_p.R471Q|MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000300398.4_Missense_Mutation_p.R146Q	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	1138							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTGGATGCCCGGAGCCCAGAC	0.507000													5	21					0	0	0.001168	0	0
KCNH1	3756	broad.mit.edu	37	1	210948696	210948696	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:210948696C>T	ENST00000367007.4	-	10	2194	c.2025G>A	c.(2023-2025)agG>agA	p.R675R	KCNH1_ENST00000271751.4_Silent_p.R702R	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	702	Calmodulin-binding.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TCACCCTCTTCCTCAAGTTGT	0.448000													5	22					0	0	0.001168	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83320119	83320119	+	Splice_Site	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:83320119C>T	ENST00000262752.2	-	21	1979	c.1971_splice	c.e21-1	p.D658_splice	RPS6KA6_ENST00000543399.1_Splice_Site_p.D658_splice	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	658	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GAAAGCAAATCCTAAATTAAA	0.338000													11	6					0	0	0.008291	0	0
LEPR	3953	broad.mit.edu	37	1	66088588	66088588	+	Splice_Site	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:66088588G>A	ENST00000349533.6	+	19	2782		c.e19-1		LEPR_ENST00000344610.8_Splice_Site|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Splice_Site|LEPR_ENST00000371059.3_Splice_Site|LEPR_ENST00000371058.1_Splice_Site	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor						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)		ATCCTTTGTAGAATGAAAAAG	0.348000													6	30					0	0	0.001168	0	0
CTCFL	140690	broad.mit.edu	37	20	56098996	56098996	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:56098996G>A	ENST00000426658.2	-	1	927	c.266C>T	c.(265-267)tCt>tTt	p.S89F	CTCFL_ENST00000422869.2_Missense_Mutation_p.S89F|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000371196.2_Missense_Mutation_p.S89F|CTCFL_ENST00000433949.2_Missense_Mutation_p.S89F|CTCFL_ENST00000423479.2_Missense_Mutation_p.S89F|CTCFL_ENST00000432255.2_Missense_Mutation_p.S89F|CTCFL_ENST00000429804.2_Missense_Mutation_p.S89F|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000243914.3_Missense_Mutation_p.S89F|CTCFL_ENST00000422109.2_Missense_Mutation_p.S89F			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	89					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CACAGCTTCAGAAGTGAAGTG	0.587000													16	41					0	0	0.004007	0	0
FAM179A	165186	broad.mit.edu	37	2	29274906	29274906	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:29274906G>A	ENST00000379558.4	+	20	3358	c.3007G>A	c.(3007-3009)Gtg>Atg	p.V1003M	FAM179A_ENST00000403861.2_Missense_Mutation_p.V948M|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	1003							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGACAGAGGGGTGGCCCCTGA	0.502000													4	29					0	0	0.000602	0	0
SPATA17	128153	broad.mit.edu	37	1	217955562	217955562	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:217955562C>T	ENST00000366933.4	+	8	825	c.770C>T	c.(769-771)cCt>cTt	p.P257L	RP11-415L24.1_ENST00000415765.1_RNA	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	257						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)		CGCTACAGGCCTTTGGAGCCA	0.443000													22	42					0	0	0.004656	0	0
SLC37A1	54020	broad.mit.edu	37	21	43988541	43988541	+	Silent	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:43988541C>T	ENST00000352133.2	+	17	2398	c.1416C>T	c.(1414-1416)ggC>ggT	p.G472G	SLC37A1_ENST00000398341.3_Silent_p.G472G			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	472					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						ACGGGACGGGCTCTGTAGGTG	0.537000													6	6					0	0	0.003080	0	0
UGT2B17	7367	broad.mit.edu	37	4	69416504	69416504	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:69416504C>T	ENST00000317746.2	-	5	1246	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	402					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						GCAATGTTATCATGTTGATCC	0.448000													67	61					0	0	0.014410	0	0
BCL11B	64919	broad.mit.edu	37	14	99723868	99723868	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:99723868C>T	ENST00000345514.2	-	2	633	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	BCL11B_ENST00000357195.3_Missense_Mutation_p.E123K|BCL11B_ENST00000443726.2_Intron	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	517						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGGTCATCTTCGTCGGGGGTG	0.607000			T	TLX3	T-ALL								43	51					0	0	0.009718	0	0
TSIX	9383	broad.mit.edu	37	X	73045926	73045926	+	RNA	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:73045926C>T	ENST00000604411.1	+	0	33887				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CACTAGAAATCCCAAACCCCA	0.488000													38	17					0	0	0.004289	0	0
CYP3A43	64816	broad.mit.edu	37	7	99447176	99447176	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:99447176G>A	ENST00000342499.4	+	5	466	c.116G>A	c.(115-117)tGg>tAg	p.W39*	CYP3A43_ENST00000354829.2_Missense_Mutation_p.G177R|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000222382.5_Missense_Mutation_p.G177R|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000312017.5_Missense_Mutation_p.G177R|CYP3A43_ENST00000477658.1_Intron			Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	399			YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	CAGTTTCTTTGGGGCCTACAC	0.408000													13	50					0	0	0.002450	0	0
EPHB3	2049	broad.mit.edu	37	3	184289160	184289160	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:184289160C>T	ENST00000330394.2	+	2	625	c.173C>T	c.(172-174)cCa>cTa	p.P58L	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	58						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ACATCTCATCCAGAAAGTGGG	0.537000													21	35					0	0	0.002780	0	0
PTPRF	5792	broad.mit.edu	37	1	44069540	44069542	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:44069540_44069542delAGG	ENST00000359947.4	+	16	3057_3059	c.2717_2719delAGG	c.(2716-2721)aag>a	p.KE906del	PTPRF_ENST00000372414.3_In_Frame_Del_p.KE906del|PTPRF_ENST00000422171.2_In_Frame_Del_p.KE254del|PTPRF_ENST00000438120.1_In_Frame_Del_p.KE897del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_In_Frame_Del_p.KE897del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	906	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGTTCGAGAAGGAGATCAGGAC	0.616													16	58	---	---	---	---					
LOC101928979	101928979	broad.mit.edu	37	1	145378949	145378950	+	RNA	INS	-	-	G	rs138005187	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:145378949_145378950insG	ENST00000419817.1	-	0	307																											ATGAAACGCGCCATTAGTACTG	0.460													2	4	---	---	---	---					
KCNN3	3782	broad.mit.edu	37	1	154842331	154842333	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:154842331_154842333delTGC	ENST00000271915.3	-	1	423_425	c.108_110delGCA	c.(106-111)caa>ca	p.QQ40del		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	40	Poly-Gln.					integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			ctgctgctgttgctgctgctgct	0.670													2	4	---	---	---	---					
RALGPS2	55103	broad.mit.edu	37	1	178846645	178846646	+	In_Frame_Ins	INS	-	-	AGATAT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:178846645_178846646insAGATAT	ENST00000367635.3	+	9	958_959	c.620_621insAGATAT	c.(619-621)tga>tAGATATga	p.207_207*>*I*	RALGPS2_ENST00000324778.4_In_Frame_Ins_p.172_172*>*I*|RALGPS2_ENST00000367634.2_In_Frame_Ins_p.207_207*>*I*	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	207	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ATCTATTTGTCAGATTTAACAT	0.337													9	29	---	---	---	---					
CFH	3075	broad.mit.edu	37	1	196706058	196706059	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:196706058_196706059insA	ENST00000367429.4	+	16	2758_2759	c.2518_2519insA	c.(2518-2520)agafs	p.R840fs		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	840	Sushi 14.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGTTCTTTGCCAAGAAAATTAT	0.371													11	29	---	---	---	---					
TANC1	85461	broad.mit.edu	37	2	160035379	160035381	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:160035379_160035381delCTT	ENST00000263635.6	+	14	2452_2454	c.2215_2217delCTT	c.(2215-2217)del	p.L739del	TANC1_ENST00000454300.1_In_Frame_Del_p.L633del	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	739						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GCTCTATTTGCTTCAGTGCAACA	0.552													65	145	---	---	---	---					
POU1F1	5449	broad.mit.edu	37	3	87313522	87313522	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:87313522delC	ENST00000350375.2	-	3	479	c.355delG	c.(355-357)aafs	p.E120fs	POU1F1_ENST00000560656.1_Frame_Shift_Del_p.E120fs|POU1F1_ENST00000344265.3_Frame_Shift_Del_p.E146fs	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	120					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		ATTGGCTCTTCCACCAATTTA	0.418													43	97	---	---	---	---					
IARS	3376	broad.mit.edu	37	9	95050130	95050130	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:95050130delA	ENST00000375643.3	-	4	605	c.339delT	c.(337-339)atfs	p.I113fs	IARS_ENST00000447699.2_Frame_Shift_Del_p.I3fs|IARS_ENST00000443024.2_Frame_Shift_Del_p.I113fs|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	113					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TATACTCTGTAATCCCCATTT	0.403													15	34	---	---	---	---					
HOXC9	3225	broad.mit.edu	37	12	54394446	54394447	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:54394446_54394447insT	ENST00000303450.4	+	1	544_545	c.474_475insT	c.(472-477)cccgccfs	p.A159fs	HOXC9_ENST00000504557.1_Intron|HOXC9_ENST00000508190.1_Frame_Shift_Ins_p.A159fs	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	159					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						AGACACTGCCCTCGCCCGAGGC	0.708													8	4	---	---	---	---					
TMEM132D	121256	broad.mit.edu	37	12	129559393	129559394	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:129559393_129559394insA	ENST00000422113.2	-	9	2652_2653	c.2326_2327insT	c.(2326-2328)ctgfs	p.L776fs	TMEM132D_ENST00000389441.4_Frame_Shift_Ins_p.L314fs	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	776						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTTCTGGCAGGATTCACTAATA	0.475													55	33	---	---	---	---					
ACADVL	37	broad.mit.edu	37	17	7126487	7126488	+	Frame_Shift_Ins	INS	-	-	A	rs145701525		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:7126487_7126488insA	ENST00000356839.5	+	11	1292_1293	c.1113_1114insA	c.(1111-1116)gaaaatfs	p.N372fs	ACADVL_ENST00000543245.2_Frame_Shift_Ins_p.N395fs|ACADVL_ENST00000350303.5_Frame_Shift_Ins_p.N350fs	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	372	Catalytic.				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						AGTTTGGGGAGAAAATTCACAA	0.554													74	78	---	---	---	---					
ZNF790	388536	broad.mit.edu	37	19	37309781	37309782	+	Frame_Shift_Ins	INS	-	-	A	rs79499850	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:37309781_37309782insA	ENST00000356725.4	-	5	1584_1585	c.1464_1465insT	c.(1462-1467)ttgtggfs	p.LW488fs	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCTGAACCACGAAAAAAGGTCT	0.391													17	56	---	---	---	---					
NUMBL	9253	broad.mit.edu	37	19	41173866	41173868	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:41173866_41173868delTGC	ENST00000252891.4	-	10	1502_1504	c.1335_1337delGCA	c.(1333-1338)caa>ca	p.QQ445del	NUMBL_ENST00000598779.1_In_Frame_Del_p.QQ404del|NUMBL_ENST00000540131.1_In_Frame_Del_p.QQ404del	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	445	Poly-Gln.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			TGAGgctgcttgctgctgttgct	0.670													3	5	---	---	---	---					
IRF3	3661	broad.mit.edu	37	19	50165513	50165513	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:50165513delC	ENST00000597198.1	-	6	1055	c.674delG	c.(673-675)gcfs	p.G225fs	IRF3_ENST00000601291.1_Frame_Shift_Del_p.G225fs|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000599144.1_Frame_Shift_Del_p.G79fs|IRF3_ENST00000377139.3_Frame_Shift_Del_p.G225fs|IRF3_ENST00000309877.7_Frame_Shift_Del_p.G225fs|IRF3_ENST00000598808.1_Frame_Shift_Del_p.G79fs|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000593922.1_Frame_Shift_Del_p.G79fs|IRF3_ENST00000600911.1_Frame_Shift_Del_p.G225fs			Q14653	IRF3_HUMAN	interferon regulatory factor 3	225	Involved in HERC5 binding.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		CAGCCGCAGGCCCTCCGGGCA	0.652													22	61	---	---	---	---					
PPP1R3D	5509	broad.mit.edu	37	20	58514976	58514976	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:58514976delC	ENST00000370996.3	-	1	376	c.11delG	c.(10-12)gcfs	p.G4fs	FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	4					glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			GGAGCTCGGGCCTCTGGACAT	0.721													2	4	---	---	---	---					
ARSF	416	broad.mit.edu	37	X	3002534	3002535	+	Frame_Shift_Ins	INS	-	-	TTTT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:3002534_3002535insTTTT	ENST00000381127.1	+	6	878_879	c.657_658insTTTT	c.(655-660)attctcfs	p.L220fs	ARSF_ENST00000359361.2_Frame_Shift_Ins_p.L220fs|ARSF_ENST00000537104.1_Frame_Shift_Ins_p.L220fs	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	220						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCTCCTGATCTTCTCCATGAT	0.545													23	29	---	---	---	---					
