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
RNASE12	493901	broad.mit.edu	37	14	21058864	21058864	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr14:21058864T>C	ENST00000556526.1	-	1	118	c.19A>G	c.(19-21)Att>Gtt	p.I7V	AL163195.3_ENST00000555283.1_RNA|RP11-14J7.6_ENST00000554993.1_RNA|RP11-14J7.6_ENST00000554529.1_RNA|RP11-14J7.6_ENST00000553604.1_RNA|RP11-14J7.6_ENST00000556487.1_RNA	NM_001024822.2	NP_001019993.1	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	7						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.I7V(1)		kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		ACCAAGAAAATTATCACCATT	0.413000													70	65					0	0	0.014410	0	0
FKBP9L	360132	broad.mit.edu	37	7	55753014	55753014	+	RNA	SNP	C	C	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr7:55753014C>G	ENST00000455909.1	-	0	549					NR_027340.1|NR_027342.1				FK506 binding protein 9-like									p.G35R(1)		endometrium(1)|kidney(1)|lung(3)	5						ACGGCACTGCCGGGCACTTCT	0.602000													4	34					0	0	0.009096	0	0
PDE10A	10846	broad.mit.edu	37	6	165808736	165808736	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr6:165808736C>A	ENST00000366882.1	-	16	1563	c.1409G>T	c.(1408-1410)gGt>gTt	p.G470V	PDE10A_ENST00000354448.4_Missense_Mutation_p.G470V|PDE10A_ENST00000539869.2_Missense_Mutation_p.G480V			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	470					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.G470V(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TTCAAAAGGACCAATGTCAAA	0.328000													31	24					1.26612e-14	1.54258e-14	0.003271	1	0
SLC45A2	51151	broad.mit.edu	37	5	33947450	33947450	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr5:33947450C>A	ENST00000382102.3	-	6	1243	c.1186G>T	c.(1186-1188)Gga>Tga	p.G396*	SLC45A2_ENST00000296589.4_Nonsense_Mutation_p.G396*|SLC45A2_ENST00000342059.3_Nonsense_Mutation_p.G337*	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	396					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		p.G396*(1)		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						CCCTTTAATCCAATGTAGGAT	0.448000													60	130					2.08403e-16	2.61352e-16	0.014410	1	0
ZNF623	9831	broad.mit.edu	37	8	144733027	144733027	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr8:144733027A>T	ENST00000501748.2	+	1	1074	c.985A>T	c.(985-987)Att>Ttt	p.I329F	ZNF623_ENST00000526926.1_Missense_Mutation_p.I289F|ZNF623_ENST00000458270.2_Missense_Mutation_p.I289F	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I329F(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAAAGCCTTTATTCGGAGTTC	0.488000													26	78					0	0	0.005443	0	0
ATP10B	23120	broad.mit.edu	37	5	160039758	160039758	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr5:160039758G>T	ENST00000327245.5	-	18	3674	c.2828C>A	c.(2827-2829)aCa>aAa	p.T943K		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	943					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.T943K(1)		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)			CTGATTCTCTGTATTGATGGT	0.473000													22	21					4.16121e-05	4.38922e-05	0.002780	1	0
SIM1	6492	broad.mit.edu	37	6	100838959	100838959	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr6:100838959G>T	ENST00000369208.3	-	12	2361	c.1579C>A	c.(1579-1581)Cat>Aat	p.H527N	SIM1_ENST00000262901.4_Missense_Mutation_p.H527N			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	527	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.H527N(1)		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)		TCATCCCAATGACCTCGCCCT	0.393000													45	31					2.68985e-26	3.65934e-26	0.014410	1	0
SCN9A	6335	broad.mit.edu	37	2	167141098	167141098	+	Silent	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr2:167141098C>T	ENST00000303354.6	-	12	2182	c.1842G>A	c.(1840-1842)ccG>ccA	p.P614P	SCN9A_ENST00000409435.1_Silent_p.P613P|SCN9A_ENST00000409672.1_Silent_p.P613P|SCN9A_ENST00000375387.4_Silent_p.P614P|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	613						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.P613P(1)		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)	TCCCGTTCACCGGCAGCATTG	0.587000													30	40					0	0	0.011902	0	0
TRIM9	114088	broad.mit.edu	37	14	51561379	51561379	+	Silent	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr14:51561379C>T	ENST00000298355.3	-	1	1400	c.279G>A	c.(277-279)caG>caA	p.Q93Q	TRIM9_ENST00000338969.5_Silent_p.Q93Q|TRIM9_ENST00000360392.4_Silent_p.Q93Q	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	93					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	p.Q93Q(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TGGGGGACTTCTGGCACGGGG	0.667000													7	13					0	0	0.001984	0	0
OR12D2	26529	broad.mit.edu	37	6	29364792	29364792	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr6:29364792G>T	ENST00000383555.2	+	1	377	c.316G>T	c.(316-318)Ggc>Tgc	p.G106C	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G106C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						CCACTCCCTGGGCAGCACGGA	0.493000													16	16					6.5261e-18	8.34734e-18	0.008740	1	0
MYO1B	4430	broad.mit.edu	37	2	192275861	192275861	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr2:192275861G>C	ENST00000392318.3	+	27	3083	c.2836G>C	c.(2836-2838)Gaa>Caa	p.E946Q	MYO1B_ENST00000339514.4_Missense_Mutation_p.E888Q|MYO1B_ENST00000439065.2_Missense_Mutation_p.E191Q|MYO1B_ENST00000392316.1_Missense_Mutation_p.E917Q|MYO1B_ENST00000304164.4_Missense_Mutation_p.E946Q	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	946						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.E888Q(1)|p.E946Q(1)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AGAAGCCAGTGAACTCTTCAA	0.333000													12	68					0	0	0.001855	0	0
C7	730	broad.mit.edu	37	5	40979921	40979921	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr5:40979921A>T	ENST00000313164.9	+	17	2619	c.2260A>T	c.(2260-2262)Aat>Tat	p.N754Y	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	754	Complement control factor I module 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.N754Y(1)					Ovarian(839;0.0112)				TCAGGGTAGAAATTACACCCT	0.498000													28	33					0	0	0.012213	0	0
OSBPL10	114884	broad.mit.edu	37	3	31871646	31871646	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr3:31871646C>A	ENST00000396556.2	-	4	737	c.615G>T	c.(613-615)caG>caT	p.Q205H	OSBPL10_ENST00000438237.2_Intron|OSBPL10_ENST00000467647.1_5'UTR	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	205					lipid transport		lipid binding	p.Q205H(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TGAGGTGTCTCTGGCTACAGG	0.567000													33	20					1.51943e-15	1.86894e-15	0.014410	1	0
JAKMIP3	282973	broad.mit.edu	37	10	133958651	133958651	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr10:133958651C>T	ENST00000298622.4	+	11	1781	c.1643C>T	c.(1642-1644)gCg>gTg	p.A548V	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3									p.A548V(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGGGCACAGGCGCGGATAGAG	0.602000													6	18					0	0	0.004482	0	0
DMBT1	1755	broad.mit.edu	37	10	124395614	124395614	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr10:124395614C>T	ENST00000368909.3	+	50	6375	c.6269C>T	c.(6268-6270)tCt>tTt	p.S2090F	DMBT1_ENST00000344338.3_Missense_Mutation_p.S2080F|DMBT1_ENST00000368956.2_Missense_Mutation_p.S1462F|DMBT1_ENST00000330163.4_Missense_Mutation_p.S1462F|DMBT1_ENST00000338354.3_Missense_Mutation_p.S2090F|DMBT1_ENST00000359586.6_Missense_Mutation_p.S810F|DMBT1_ENST00000368955.3_Missense_Mutation_p.S2080F	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2090	CUB 2.				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	p.S2090F(2)|p.S2219F(1)		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)				TCCTTCACTTCTTCCTCCAAC	0.522000													12	40					0	0	0.013537	0	0
ZNF85	7639	broad.mit.edu	37	19	21132566	21132566	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr19:21132566C>A	ENST00000601023.1	+	2	1715	c.1069C>A	c.(1069-1071)Cat>Aat	p.H357N	ZNF85_ENST00000328178.8_Missense_Mutation_p.H416N|ZNF85_ENST00000345030.6_Missense_Mutation_p.H383N			Q03923	ZNF85_HUMAN	zinc finger protein 85	416						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.H416N(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CCTTACTAAACATAAGATAAT	0.313000													6	21					1.76689e-08	1.96039e-08	0.006214	1	0
EDEM3	80267	broad.mit.edu	37	1	184681006	184681006	+	Silent	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:184681006C>A	ENST00000318130.8	-	15	1808	c.1542G>T	c.(1540-1542)tcG>tcT	p.S514S	EDEM3_ENST00000367512.3_Silent_p.S471S	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	514					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	p.S471S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGTATATTCCGAGGTCTACA	0.343000													20	60					3.8784e-16	4.81673e-16	0.012319	1	0
TBX15	6913	broad.mit.edu	37	1	119427674	119427674	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:119427674C>A	ENST00000369429.3	-	8	1499	c.1490G>T	c.(1489-1491)gGg>gTg	p.G497V	TBX15_ENST00000207157.3_Missense_Mutation_p.G391V			Q96SF7	TBX15_HUMAN	T-box 15	497						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.G391V(1)		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)		GTGGCTGCCCCCGAACATGTG	0.557000													6	28					2.0095e-06	2.16105e-06	0.001984	1	0
FAT3	120114	broad.mit.edu	37	11	92534618	92534618	+	Silent	SNP	C	C	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr11:92534618C>G	ENST00000298047.6	+	9	8456	c.8439C>G	c.(8437-8439)gtC>gtG	p.V2813V	FAT3_ENST00000525166.1_Silent_p.V2663V|FAT3_ENST00000409404.2_Silent_p.V2813V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2813	Cadherin 25.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V2813V(2)		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)				ACAAGCCAGTCTTTGAAACTT	0.418000										TCGA Ovarian(4;0.039)			7	19					0	0	0.013537	0	0
CRIM1	51232	broad.mit.edu	37	2	36706813	36706813	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr2:36706813G>T	ENST00000280527.2	+	7	1715	c.1348G>T	c.(1348-1350)Ggg>Tgg	p.G450W		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	450	VWFC 2.				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	p.G450W(1)		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)				GAAAGTGCCTGGGGAGTGTTG	0.547000													21	88					6.44725e-10	7.40953e-10	0.014323	1	0
ISM1	140862	broad.mit.edu	37	20	13280019	13280019	+	Silent	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr20:13280019C>A	ENST00000262487.3	+	6	1314	c.1308C>A	c.(1306-1308)gcC>gcA	p.A436A	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	436	AMOP.					extracellular region		p.A436A(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						ATAACGAGGCCCGGCCTCCCA	0.567000													32	17					6.50621e-10	7.43291e-10	0.013726	1	0
SYN3	8224	broad.mit.edu	37	22	33265054	33265054	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr22:33265054C>A	ENST00000358763.2	-	5	762	c.520G>T	c.(520-522)Ggg>Tgg	p.G174W	SYN3_ENST00000332840.5_Missense_Mutation_p.G174W	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	174	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	p.G174W(1)		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						TAGTCTTCCCCCAGGGCCATG	0.567000													15	17					1.37657e-19	1.77845e-19	0.012319	1	0
OR6T1	219874	broad.mit.edu	37	11	123814374	123814374	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr11:123814374G>T	ENST00000321252.2	-	1	206	c.172C>A	c.(172-174)Cag>Aag	p.Q58K		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q58K(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)		AAGTACATCTGTATGTGCAGG	0.502000													23	111					3.28513e-13	3.92787e-13	0.003954	1	0
ITPR2	3709	broad.mit.edu	37	12	26749907	26749907	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr12:26749907C>T	ENST00000381340.3	-	31	4579	c.4163G>A	c.(4162-4164)gGg>gAg	p.G1388E		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1388					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.G1388E(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GACATTTTTCCCCTCTGTGCA	0.532000													178	66					0	0	0.014410	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52901105	52901105	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:52901105G>A	ENST00000371544.3	-	27	4454	c.4192C>T	c.(4192-4194)Caa>Taa	p.Q1398*	ZCCHC11_ENST00000257177.4_Nonsense_Mutation_p.Q1399*	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1398	Gln-rich.				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	p.Q1399*(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GCCACCTGTTGAGCATTTACA	0.433000													29	24					0	0	0.012213	0	0
CLDN1	9076	broad.mit.edu	37	3	190027981	190027981	+	Silent	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr3:190027981G>A	ENST00000295522.3	-	3	718	c.450C>T	c.(448-450)gaC>gaT	p.D150D		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	150					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity	p.D150D(1)		lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		GGGTCATAGGGTCATAGAATT	0.388000													33	20					0	0	0.004878	0	0
SLIT2	9353	broad.mit.edu	37	4	20568941	20568941	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr4:20568941A>T	ENST00000504154.1	+	27	3034	c.2782A>T	c.(2782-2784)Aaa>Taa	p.K928*	SLIT2_ENST00000503837.1_Nonsense_Mutation_p.K924*|SLIT2_ENST00000503823.1_Nonsense_Mutation_p.K920*|SLIT2_ENST00000273739.5_Nonsense_Mutation_p.K932*	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	928	EGF-like 1.				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	p.K928*(1)		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						AAATCCGTGTAAAAATGATGG	0.383000													101	195					0	0	0.014410	0	0
ACSM3	6296	broad.mit.edu	37	16	20788795	20788795	+	Silent	SNP	A	A	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr16:20788795A>G	ENST00000289416.5	+	4	1006	c.531A>G	c.(529-531)ttA>ttG	p.L177L	ACSM3_ENST00000450120.2_Silent_p.L132L|ACSM3_ENST00000440284.2_Silent_p.L177L	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	177					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.L177L(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						ATGATGTTTTAGCCCCAGCAG	0.453000													41	90					0	0	0.008740	0	0
IGLV3-9	28804	broad.mit.edu	37	22	23161990	23161990	+	RNA	SNP	C	C	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr22:23161990C>G	ENST00000390316.2	+	0	198																											CAGCCACTCTCAGTGTCAGTG	0.522000													21	7					0	0	0.003954	0	0
GLS2	27165	broad.mit.edu	37	12	56881845	56881845	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr12:56881845G>C	ENST00000311966.4	-	1	336	c.58C>G	c.(58-60)Cga>Gga	p.R20G	GLS2_ENST00000539272.1_Missense_Mutation_p.R20G	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	20					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding	p.R20G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAGCCTCCTCGCCCGCAGTGA	0.726000													9	4					0	0	0.008291	0	0
OR5M9	390162	broad.mit.edu	37	11	56230566	56230566	+	Silent	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr11:56230566G>T	ENST00000279791.1	-	1	311	c.312C>A	c.(310-312)gcC>gcA	p.A104A		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A104A(1)		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)					CGTGGACAACGGCAATGAAAA	0.473000													43	58					8.20599e-20	1.06374e-19	0.011902	1	0
LPA	4018	broad.mit.edu	37	6	160953584	160953584	+	Silent	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr6:160953584G>A	ENST00000447678.1	-	39	6060	c.5940C>T	c.(5938-5940)gcC>gcT	p.A1980A	LPA_ENST00000484276.1_Intron|LPA_ENST00000316300.5_Silent_p.A1980A	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4488	Kringle 18.				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	p.A1980A(1)		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)	CAGTGCCTCTGGCCAAATGCT	0.473000													42	28					0	0	0.010771	0	0
SDK1	221935	broad.mit.edu	37	7	4153810	4153810	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr7:4153810G>A	ENST00000404826.2	+	25	3866	c.3727G>A	c.(3727-3729)Gag>Aag	p.E1243K	SDK1_ENST00000389531.3_Missense_Mutation_p.E1243K	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1243	Fibronectin type-III 6.				cell adhesion	integral to membrane		p.E1243K(1)		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)		CGAGGAGCTGGAGGAGTGGAT	0.632000													24	60					0	0	0.003954	0	0
CARNS1	57571	broad.mit.edu	37	11	67191644	67191644	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr11:67191644C>T	ENST00000445895.2	+	9	2539	c.2425C>T	c.(2425-2427)Cgg>Tgg	p.R809W	CARNS1_ENST00000423745.2_Missense_Mutation_p.R686W|CARNS1_ENST00000531040.1_Missense_Mutation_p.R783W|CARNS1_ENST00000307823.3_Missense_Mutation_p.R686W			A5YM72	CRNS1_HUMAN	carnosine synthase 1	686					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding	p.R809W(1)|p.R244W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						GGCTGGGCCTCGGCTTATCGA	0.607000													20	17					0	0	0.014323	0	0
SLC29A3	55315	broad.mit.edu	37	10	73121984	73121984	+	Silent	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr10:73121984C>T	ENST00000373189.5	+	6	1099	c.1047C>T	c.(1045-1047)ctC>ctT	p.L349L	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	349					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity	p.L349L(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						TCATCCCCCTCACTACCTTCC	0.582000													100	152					0	0	0.014410	0	0
HTRA4	203100	broad.mit.edu	37	8	38831817	38831817	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr8:38831817G>T	ENST00000302495.4	+	1	135	c.35G>T	c.(34-36)gGa>gTa	p.G12V		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	12					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	p.G12V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GCGGGGCTGGGACGATGCCTC	0.627000													7	5					0.000157383	0.000164654	0.003080	1	0
C12orf42	374470	broad.mit.edu	37	12	103700057	103700057	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr12:103700057A>T	ENST00000548048.1	-	8	621	c.125T>A	c.(124-126)gTc>gAc	p.V42D	C12orf42_ENST00000378113.2_Missense_Mutation_p.V109D|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Missense_Mutation_p.V109D|C12orf42_ENST00000548789.1_5'UTR			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	109								p.V109D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						ACACCTGGGGACTATGTACTG	0.403000													9	25					0	0	0.004482	0	0
MLXIP	22877	broad.mit.edu	37	12	122625515	122625515	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr12:122625515C>G	ENST00000319080.6	+	16	2655	c.2523C>G	c.(2521-2523)atC>atG	p.I841M	MLXIP_ENST00000538698.1_Missense_Mutation_p.I448M			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	841	Mediates heterotypic interactions between MLXIP and MLX and is required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	p.I841M(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GCATCATCATCAAGCCGCTGT	0.597000													33	41					0	0	0.014410	0	0
CPVL	54504	broad.mit.edu	37	7	29070207	29070207	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr7:29070207C>A	ENST00000409850.1	-	16	1952	c.1306G>T	c.(1306-1308)Ggt>Tgt	p.G436C	CPVL_ENST00000265394.5_Missense_Mutation_p.G436C|CPVL_ENST00000396276.3_Missense_Mutation_p.G436C			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	436					proteolysis		protein binding|serine-type carboxypeptidase activity	p.G436C(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TGGAAGTCACCCGCTTGCCGG	0.478000													58	143					3.40343e-31	4.73039e-31	0.014410	1	0
IFFO1	25900	broad.mit.edu	37	12	6658970	6658970	+	Silent	SNP	G	G	A	rs138562505		TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr12:6658970G>A	ENST00000436152.2	-	5	661	c.102C>T	c.(100-102)tgC>tgT	p.C34C	IFFO1_ENST00000465801.1_Silent_p.C34C|IFFO1_ENST00000336604.4_Silent_p.C341C|IFFO1_ENST00000356896.4_Silent_p.C341C|IFFO1_ENST00000396840.2_Silent_p.C341C			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	341						intermediate filament		p.C341C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GAGCCACATCGCAGAGCTTGG	0.602000													71	21					0	0	0.014410	0	0
CSMD2	114784	broad.mit.edu	37	1	34180202	34180202	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:34180202G>T	ENST00000373381.4	-	21	3567	c.3391C>A	c.(3391-3393)Ctg>Atg	p.L1131M		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1091	CUB 7.					integral to membrane|plasma membrane	protein binding	p.L1091M(1)		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)				CACCTTGGCAGAGGCGAGCTC	0.602000													79	289					2.93434e-44	4.1997e-44	0.014410	1	0
CUL1	8454	broad.mit.edu	37	7	148497615	148497615	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr7:148497615G>C	ENST00000325222.4	+	22	2551	c.2272G>C	c.(2272-2274)Gag>Cag	p.E758Q	CUL1_ENST00000409469.1_Missense_Mutation_p.E758Q|CUL1_ENST00000602748.1_Missense_Mutation_p.E758Q	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	758					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	p.E758Q(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CATTCTAATTGAGAAAGAATA	0.408000													24	91					0	0	0.004656	0	0
DIS3	22894	broad.mit.edu	37	13	73346338	73346338	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr13:73346338C>T	ENST00000377767.4	-	10	1562	c.1462G>A	c.(1462-1464)Gat>Aat	p.D488N	DIS3_ENST00000545453.1_Missense_Mutation_p.D326N|DIS3_ENST00000377780.4_Missense_Mutation_p.D458N	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	488					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	p.D488N(4)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TGTAGAGCATCGTCTATATCA	0.363000										Multiple Myeloma(4;0.011)			15	39					0	0	0.004007	0	0
POU2F2	5452	broad.mit.edu	37	19	42600252	42600252	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr19:42600252G>C	ENST00000389341.5	-	8	663	c.597C>G	c.(595-597)atC>atG	p.I199M	POU2F2_ENST00000533720.1_Missense_Mutation_p.I199M|POU2F2_ENST00000529952.1_Missense_Mutation_p.I215M|POU2F2_ENST00000560558.1_Missense_Mutation_p.I160M|POU2F2_ENST00000560398.1_Missense_Mutation_p.I221M|POU2F2_ENST00000526816.2_Missense_Mutation_p.I215M|POU2F2_ENST00000529067.1_Missense_Mutation_p.I199M|POU2F2_ENST00000342301.4_Missense_Mutation_p.I215M	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	215	POU-specific.				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.I199M(1)|p.I215M(1)		kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				AGCCCAGCTTGATGCGGCGTT	0.672000													7	12					0	0	0.008291	0	0
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr17:7578403C>T	ENST00000420246.2	-	5	659	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000413465.2_Missense_Mutation_p.C176Y|TP53_ENST00000269305.4_Missense_Mutation_p.C176Y|TP53_ENST00000445888.2_Missense_Mutation_p.C176Y|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; 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.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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)		ATGGTGGGGGCAGCGCCTCAC	0.652000		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)			21	16					0	0	0.005443	0	0
ZNF624	57547	broad.mit.edu	37	17	16527059	16527059	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr17:16527059T>C	ENST00000311331.7	-	6	1232	c.1141A>G	c.(1141-1143)Att>Gtt	p.I381V		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I381V(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCAGTTTGAATTCTCTGGTGC	0.388000													79	45					0	0	0.014410	0	0
LRP1B	53353	broad.mit.edu	37	2	141128318	141128318	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr2:141128318C>A	ENST00000389484.3	-	71	11940	c.10969G>T	c.(10969-10971)Gac>Tac	p.D3657Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3657	LDL-receptor class A 29.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D3657Y(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)		TCCACACAGTCATGAATTCCA	0.408000										TSP Lung(27;0.18)			60	314					1.31171e-36	1.84309e-36	0.014410	1	0
SVEP1	79987	broad.mit.edu	37	9	113194786	113194786	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr9:113194786C>A	ENST00000401783.2	-	31	5525	c.5189G>T	c.(5188-5190)tGt>tTt	p.C1730F	SVEP1_ENST00000374469.1_Missense_Mutation_p.C1707F	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1730	Sushi 6.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.C1733F(1)		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						ATTATCTGTACAGAACATCCT	0.453000													90	40					1.16668e-32	1.63335e-32	0.014410	1	0
FBXL7	23194	broad.mit.edu	37	5	15928526	15928526	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr5:15928526G>T	ENST00000504595.1	+	3	1136	c.655G>T	c.(655-657)Gtc>Ttc	p.V219F	FBXL7_ENST00000510662.1_Missense_Mutation_p.V172F|FBXL7_ENST00000329673.7_Missense_Mutation_p.V207F	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	219					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.V219F(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCGACTGGAAGTCTCAGGCTG	0.562000													31	63					1.36615e-20	1.77691e-20	0.013726	1	0
NBAS	51594	broad.mit.edu	37	2	15519895	15519895	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr2:15519895T>C	ENST00000281513.5	-	30	3446	c.3421A>G	c.(3421-3423)Atg>Gtg	p.M1141V	NBAS_ENST00000441750.1_Missense_Mutation_p.M1021V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1141								p.M1141V(1)		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						CAGTGCATCATCTGTCCAGCC	0.448000													119	118					0	0	0.014410	0	0
OR10K2	391107	broad.mit.edu	37	1	158389727	158389727	+	Silent	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:158389727G>A	ENST00000314902.2	-	1	929	c.930C>T	c.(928-930)tcC>tcT	p.S310S		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.S310S(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)					TTTACAACAGGGAAATTGTTC	0.393000													23	51					0	0	0.002780	0	0
NUF2	83540	broad.mit.edu	37	1	163317686	163317686	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:163317686A>T	ENST00000271452.3	+	12	1361	c.1082A>T	c.(1081-1083)aAg>aTg	p.K361M	NUF2_ENST00000524800.1_Missense_Mutation_p.K314M|NUF2_ENST00000367900.3_Missense_Mutation_p.K361M	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	361	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	p.K361M(2)		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)					AAAATAAATAAGAAGCATGAA	0.308000													34	39					0	0	0.006230	0	0
DNAJC2	27000	broad.mit.edu	37	7	102968127	102968127	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr7:102968127C>G	ENST00000379263.3	-	4	656	c.406G>C	c.(406-408)Gac>Cac	p.D136H	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.D136H	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	136	J.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding	p.D136H(2)		endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						GTGAAGTAGTCATTATCTCCT	0.333000													21	331					0	0	0.010504	0	0
CSMD1	64478	broad.mit.edu	37	8	3063038	3063038	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr8:3063038G>T	ENST00000520002.1	-	32	5530	c.4975C>A	c.(4975-4977)Cca>Aca	p.P1659T	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1658T|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1658T|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1658T|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1659T|CSMD1_ENST00000602557.1_Missense_Mutation_p.P1659T|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1659T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1659	CUB 10.					integral to membrane		p.P1658T(1)|p.P1387T(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)		AATTCCTTTGGTACCGTGATG	0.393000													4	2					0.00909568	0.00928869	0.009096	1	0
ABCA3	21	broad.mit.edu	37	16	2347904	2347904	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr16:2347904G>A	ENST00000301732.5	-	16	2615	c.1915C>T	c.(1915-1917)Cag>Tag	p.Q639*	ABCA3_ENST00000382381.3_Nonsense_Mutation_p.Q581*	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	639	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.Q639*(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GGGCACTTCTGACGTGACAGG	0.632000													64	77					0	0	0.014410	0	0
TRGC2	6967	broad.mit.edu	37	7	38279737	38279737	+	RNA	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr7:38279737G>A	ENST00000436911.2	-	0	456																											GTAATATGCAGAGGTGTTTGT	0.423000													25	23					0	0	0.006320	0	0
MBNL3	55796	broad.mit.edu	37	X	131573492	131573492	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chrX:131573492G>A	ENST00000370857.3	-	1	213	c.148C>T	c.(148-150)Cgt>Tgt	p.R50C	MBNL3_ENST00000370844.1_5'UTR|MBNL3_ENST00000370853.3_Missense_Mutation_p.R50C|MBNL3_ENST00000370839.3_Missense_Mutation_p.R50C			Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	50					mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding	p.R50C(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					GCCACCACACGACCATTTTCC	0.393000													22	97					0	0	0.002780	0	0
BTBD16	118663	broad.mit.edu	37	10	124043431	124043431	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr10:124043431G>T	ENST00000368994.2	+	4	487	c.236G>T	c.(235-237)gGg>gTg	p.G79V	BTBD16_ENST00000260723.4_Missense_Mutation_p.G78V			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	78								p.G78V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				ATCCAAAGTGGGGAAGCAGGT	0.398000													19	41					3.5997e-14	4.34446e-14	0.014323	1	0
KAZN	23254	broad.mit.edu	37	1	15420685	15420685	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:15420685G>T	ENST00000376030.2	+	9	1526	c.1232G>T	c.(1231-1233)aGc>aTc	p.S411I		NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	411					keratinization	cornified envelope|cytoplasm|desmosome|nucleus		p.S411I(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						GACTCGGACAGCCAGTGCAGC	0.687000													12	18					6.72482e-11	7.77495e-11	0.003163	1	0
GUK1	2987	broad.mit.edu	37	1	228333279	228333279	+	Silent	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:228333279G>A	ENST00000366718.1	+	2	493	c.66G>A	c.(64-66)aaG>aaA	p.K22K	GUK1_ENST00000366716.1_Silent_p.K22K|GUK1_ENST00000391865.3_Silent_p.K43K|GUK1_ENST00000366723.1_Silent_p.K43K|GUK1_ENST00000366726.1_Silent_p.K22K|GUK1_ENST00000366730.1_Silent_p.K22K|GUK1_ENST00000366722.1_Silent_p.K22K|GUK1_ENST00000312726.4_Silent_p.K22K|GUK1_ENST00000366721.1_Silent_p.K22K|GUK1_ENST00000470040.1_3'UTR|GUK1_ENST00000366728.2_Silent_p.K43K	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1	22	Guanylate kinase-like.				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity	p.E95K(1)|p.K22K(1)		endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				CCCTGCTGAAGAGGCTGCTCC	0.637000													14	30					0	0	0.006122	0	0
TANC1	85461	broad.mit.edu	37	2	160031569	160031569	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr2:160031569G>T	ENST00000263635.6	+	12	1846	c.1609G>T	c.(1609-1611)Gcc>Tcc	p.A537S	TANC1_ENST00000454300.1_Missense_Mutation_p.A431S	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	537						cell junction|postsynaptic density|postsynaptic membrane	binding	p.A537S(2)		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						TCAGCTGGCCGCCTACAGAGA	0.592000													153	120					2.33112e-60	3.38672e-60	0.014410	1	0
MSANTD3	91283	broad.mit.edu	37	9	103213223	103213223	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr9:103213223A>G	ENST00000395067.2	+	3	1074	c.803A>G	c.(802-804)aAc>aGc	p.N268S	TMEFF1_ENST00000334943.6_Intron|MSANTD3-TMEFF1_ENST00000502978.1_Intron|MSANTD3_ENST00000489377.1_3'UTR	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1			Myb/SANT-like DNA-binding domain containing 3									p.N268S(1)		endometrium(2)|lung(2)	4						TCCTCATTTAACCGGCCCTTT	0.418000													52	13					0	0	0.014410	0	0
NEU4	129807	broad.mit.edu	37	2	242756197	242756197	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr2:242756197G>A	ENST00000391969.2	+	4	1021	c.310G>A	c.(310-312)Gcg>Acg	p.A104T	NEU4_ENST00000404257.1_Missense_Mutation_p.A116T|NEU4_ENST00000405370.1_Missense_Mutation_p.A104T|NEU4_ENST00000407683.1_Missense_Mutation_p.A104T|NEU4_ENST00000325935.6_Missense_Mutation_p.A117T	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	104						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	p.A116T(1)		breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CTTCTTCATCGCGGTGCTGGG	0.701000													16	16					0	0	0.006122	0	0
ATHL1	80162	broad.mit.edu	37	11	292927	292927	+	Silent	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr11:292927C>T	ENST00000409548.2	+	7	1315	c.1200C>T	c.(1198-1200)gtC>gtT	p.V400V	ATHL1_ENST00000409655.1_Silent_p.V223V|ATHL1_ENST00000409479.1_Silent_p.V400V	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	400					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds	p.V223V(1)|p.V400V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGGACGTGGTCAGGGCTGTGG	0.642000													5	38					0	0	0.003080	0	0
PRMT8	56341	broad.mit.edu	37	12	3686040	3686040	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr12:3686040G>T	ENST00000382622.3	+	7	1106	c.716G>T	c.(715-717)tGg>tTg	p.W239L	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.W230L	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	239					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	p.W239L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CCCACAGGGTGGGAGAATGTC	0.592000													560	190					1.33697e-226	1.96464e-226	0.014410	1	0
PLVAP	83483	broad.mit.edu	37	19	17476412	17476412	+	Silent	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr19:17476412G>T	ENST00000252590.4	-	3	923	c.862C>A	c.(862-864)Cgg>Agg	p.R288R		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	288						caveola|integral to membrane|perinuclear region of cytoplasm		p.R288R(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CGGAGGCTCCGGGCCAGCTCC	0.657000													16	16					2.70639e-06	2.9024e-06	0.014323	1	0
MME	4311	broad.mit.edu	37	3	154861315	154861315	+	Silent	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr3:154861315G>A	ENST00000460393.1	+	13	1392	c.1272G>A	c.(1270-1272)ggG>ggA	p.G424G	MME_ENST00000360490.2_Silent_p.G424G|MME_ENST00000493237.1_Silent_p.G424G|MME_ENST00000462745.1_Silent_p.G424G|MME_ENST00000492661.1_Silent_p.G424G	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	424					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.G424G(1)		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)	ATGCTGTGGGGAGGCTTTATG	0.408000													41	153					0	0	0.011902	0	0
COL5A2	1290	broad.mit.edu	37	2	189925458	189925458	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr2:189925458G>C	ENST00000374866.3	-	31	2357	c.2083C>G	c.(2083-2085)Caa>Gaa	p.Q695E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	695					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.Q695E(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)			ACACTTACTTGATCACCTGGT	0.373000													13	36					0	0	0.002450	0	0
PIM3	415116	broad.mit.edu	37	22	50356707	50356707	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr22:50356707G>A	ENST00000360612.4	+	6	1348	c.913G>A	c.(913-915)Gac>Aac	p.D305N		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	pim-3 oncogene	305					cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity	p.D305N(1)					all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		GGAGAGCTGTGACCTGCGGCT	0.682000													8	9					0	0	0.004482	0	0
PDILT	204474	broad.mit.edu	37	16	20380967	20380967	+	Silent	SNP	A	A	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr16:20380967A>T	ENST00000302451.4	-	8	1211	c.963T>A	c.(961-963)cgT>cgA	p.R321R		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	321					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.R321R(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ACTTGAAGACACGTCCATTTC	0.463000													51	119					0	0	0.014410	0	0
DLL4	54567	broad.mit.edu	37	15	41222082	41222082	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr15:41222082A>G	ENST00000249749.5	+	2	380	c.104A>G	c.(103-105)cAg>cGg	p.Q35R		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	35					blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding	p.Q35R(1)		breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CTGCAGCTGCAGGAGTTCATC	0.687000													10	5					0	0	0.003163	0	0
USP38	84640	broad.mit.edu	37	4	144118998	144118998	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr4:144118998C>T	ENST00000307017.4	+	4	1477	c.971C>T	c.(970-972)cCt>cTt	p.P324L	USP38_ENST00000510377.1_Missense_Mutation_p.P324L	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	324					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.P324L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					CTTTGGTTTCCTCTTGTGAGA	0.388000													66	46					0	0	0.014410	0	0
DOCK5	80005	broad.mit.edu	37	8	25182907	25182907	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr8:25182907A>G	ENST00000276440.7	+	18	1791	c.1747A>G	c.(1747-1749)Aaa>Gaa	p.K583E		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	583	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.K583E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGAAGATGCTAAATTCTACCT	0.403000													46	32					0	0	0.014410	0	0
ACHE	43	broad.mit.edu	37	7	100490353	100490353	+	Silent	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr7:100490353G>A	ENST00000302913.4	-	3	1293	c.1155C>T	c.(1153-1155)atC>atT	p.I385I	ACHE_ENST00000428317.1_Silent_p.I385I|ACHE_ENST00000419336.2_Intron|ACHE_ENST00000411582.1_Silent_p.I385I|ACHE_ENST00000412389.1_Silent_p.I385I|ACHE_ENST00000241069.5_Silent_p.I385I	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	385					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	p.I385I(2)		large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CGGCCCGGCTGATGAGAGACT	0.622000													46	90					0	0	0.014410	0	0
VCAN	1462	broad.mit.edu	37	5	82786237	82786237	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr5:82786237G>T	ENST00000265077.3	+	3	956	c.391G>T	c.(391-393)Gac>Tac	p.D131Y	VCAN_ENST00000512590.2_Missense_Mutation_p.D83Y|VCAN_ENST00000343200.5_Missense_Mutation_p.D131Y|VCAN_ENST00000502527.2_Missense_Mutation_p.D131Y|VCAN_ENST00000342785.4_Missense_Mutation_p.D131Y|VCAN_ENST00000513984.1_Missense_Mutation_p.D131Y	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	131	Ig-like V-type.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.D131Y(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)		TTACCGCTGTGACGTCATGTA	0.522000													62	66					1.8515e-17	2.34483e-17	0.014410	1	0
NTRK3	4916	broad.mit.edu	37	15	88678610	88678610	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr15:88678610C>A	ENST00000394480.1	-	10	1247	c.926G>T	c.(925-927)aGc>aTc	p.S309I	NTRK3_ENST00000317501.3_Missense_Mutation_p.S309I|NTRK3_ENST00000355254.2_Missense_Mutation_p.S309I|NTRK3_ENST00000558676.1_Missense_Mutation_p.S309I|NTRK3_ENST00000540489.2_Missense_Mutation_p.S309I|NTRK3_ENST00000360948.2_Missense_Mutation_p.S309I|NTRK3_ENST00000542733.2_Missense_Mutation_p.S211I|NTRK3_ENST00000557856.1_Missense_Mutation_p.S309I|NTRK3_ENST00000357724.2_Missense_Mutation_p.S309I	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	309	Ig-like C2-type 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.S309I(3)	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)			CTCCTCCAGGCTCACCACACG	0.592000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			21	46					1.96292e-10	2.26265e-10	0.010504	1	0
SPEN	23013	broad.mit.edu	37	1	16261724	16261724	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:16261724G>A	ENST00000375759.3	+	11	9193	c.8989G>A	c.(8989-8991)Gaa>Aaa	p.E2997K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2997					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.E2997K(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|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;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ACTGCCTACAGAAGTCAACCA	0.592000													11	48					0	0	0.002450	0	0
BPTF	2186	broad.mit.edu	37	17	65850144	65850144	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr17:65850144G>T	ENST00000321892.4	+	2	763	c.702G>T	c.(700-702)gaG>gaT	p.E234D	BPTF_ENST00000306378.6_Missense_Mutation_p.E234D|BPTF_ENST00000424123.3_Missense_Mutation_p.E95D|BPTF_ENST00000335221.5_Missense_Mutation_p.E234D			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	234					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	p.E234D(2)		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)			AGTCCTCTGAGGATTTAATGG	0.428000													79	140					1.45978e-39	2.05866e-39	0.014410	1	0
HNRNPM	4670	broad.mit.edu	37	19	8550658	8550658	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr19:8550658G>T	ENST00000348943.3	+	15	1461	c.1229G>T	c.(1228-1230)cGc>cTc	p.R410L	HNRNPM_ENST00000325495.4_Missense_Mutation_p.R449L	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	449	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	p.R449L(1)		endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TCCGTGGAGCGCATGGGCTCC	0.692000													69	62					2.72187e-29	3.72925e-29	0.014410	1	0
HFM1	164045	broad.mit.edu	37	1	91841230	91841230	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:91841230C>T	ENST00000370425.3	-	12	1548	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K	HFM1_ENST00000370424.3_Missense_Mutation_p.E163K|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	484							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.E484K(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CTATGGCTCTCATCCATTTTC	0.368000													35	143					0	0	0.006999	0	0
LAMA3	3909	broad.mit.edu	37	18	21474925	21474925	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr18:21474925A>C	ENST00000313654.9	+	44	5757	c.5516A>C	c.(5515-5517)cAg>cCg	p.Q1839P	LAMA3_ENST00000587184.1_Missense_Mutation_p.Q230P|LAMA3_ENST00000399516.3_Missense_Mutation_p.Q1839P|LAMA3_ENST00000269217.6_Missense_Mutation_p.Q230P	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1839	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	p.Q1839P(1)|p.Q230P(1)		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)	ATGGGCGAGCAGCTCCGCCTG	0.617000													7	11					0	0	0.007413	0	0
CHST5	23563	broad.mit.edu	37	16	75563474	75563474	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr16:75563474C>A	ENST00000336257.3	-	3	2203	c.809G>T	c.(808-810)aGc>aTc	p.S270I	CHST5_ENST00000541075.1_Missense_Mutation_p.S276I|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	270					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	p.S270I(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GCGCACGTGGCTGCGGCACAC	0.716000													13	58					4.93089e-13	5.87738e-13	0.002450	1	0
ZBTB10	65986	broad.mit.edu	37	8	81426180	81426180	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr8:81426180G>C	ENST00000430430.1	+	4	2676	c.1897G>C	c.(1897-1899)Gat>Cat	p.D633H	ZBTB10_ENST00000426744.2_Missense_Mutation_p.D633H|ZBTB10_ENST00000379091.4_Missense_Mutation_p.D341H|ZBTB10_ENST00000455036.3_Missense_Mutation_p.D633H	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	633					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D633H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			GCCAGATGGTGATAGGAATGT	0.413000													11	44					0	0	0.013537	0	0
ABCA1	19	broad.mit.edu	37	9	107550287	107550287	+	Missense_Mutation	SNP	T	T	G	rs150283412		TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr9:107550287T>G	ENST00000374736.3	-	46	6512	c.6118A>C	c.(6118-6120)Aaa>Caa	p.K2040Q		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2040	ABC transporter 2.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	p.K2040Q(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCAGCATATTTTTCTCCATAC	0.473000													43	124					0	0	0.011902	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37305697	37305697	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr9:37305697G>T	ENST00000336755.5	+	5	1043	c.937G>T	c.(937-939)Ggc>Tgc	p.G313C	ZCCHC7_ENST00000534928.1_Missense_Mutation_p.G23C|ZCCHC7_ENST00000461038.1_3'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	313							nucleic acid binding|zinc ion binding	p.G313C(1)		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)		TCATATGCTAGGCCACTATAC	0.423000													33	30					3.90053e-15	4.78249e-15	0.012213	1	0
CC2D2B	387707	broad.mit.edu	37	10	97769676	97769676	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr10:97769676C>A	ENST00000371198.2	+	12	1429	c.389C>A	c.(388-390)tCt>tAt	p.S130Y	CC2D2B_ENST00000344386.3_Missense_Mutation_p.S39Y|RP11-690P14.4_ENST00000475252.2_3'UTR|ENTPD1-AS1_ENST00000451364.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.S39Y|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA			Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	39								p.S39Y(2)		large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		CTGCAACAATCTGAGGTAAGA	0.398000													18	75					7.41877e-09	8.30299e-09	0.012319	1	0
PDCD11	22984	broad.mit.edu	37	10	105191887	105191887	+	Splice_Site	SNP	G	G	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr10:105191887G>C	ENST00000369797.3	+	22	3464	c.3368_splice	c.e22-1	p.E1124_splice		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1124					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	p.E1124Q(1)		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)		TGCAAACAGTGAGCTGGAGGA	0.473000													43	68					0	0	0.014410	0	0
GBP6	163351	broad.mit.edu	37	1	89834209	89834209	+	Missense_Mutation	SNP	G	G	C	rs71584945		TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:89834209G>C	ENST00000370456.4	+	2	192	c.99G>C	c.(97-99)aaG>aaC	p.K33N	GBP6_ENST00000535065.1_Intron	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	33							GTP binding|GTPase activity	p.K33N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TTCTTGAAAAGATTTCTCAGC	0.473000													45	69					0	0	0.014410	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254710	30254710	+	Silent	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chrX:30254710C>A	ENST00000361644.2	+	5	1406	c.669C>A	c.(667-669)atC>atA	p.I223I	MAGEB3_ENST00000378986.1_Silent_p.I223I	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	223	MAGE.							p.I223I(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AGGAGAAGATCTGGGAATTCC	0.473000													7	11					0.000274275	0.000286168	0.004482	1	0
AKR1B15	441282	broad.mit.edu	37	7	134253052	134253052	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr7:134253052G>T	ENST00000457545.2	+	4	553	c.293G>T	c.(292-294)cGg>cTg	p.R98L	AKR1B15_ENST00000423958.1_Missense_Mutation_p.R70L	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	98							oxidoreductase activity	p.R70L(2)|p.R98L(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						GCTGTGATGCGGGAGGACCTG	0.517000													86	56					9.62396e-42	1.36724e-41	0.014410	1	0
MAP4	4134	broad.mit.edu	37	3	47957470	47957470	+	Nonsense_Mutation	SNP	G	G	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr3:47957470G>C	ENST00000426837.2	-	8	1985	c.1898C>G	c.(1897-1899)tCa>tGa	p.S633*	MAP4_ENST00000395734.3_Nonsense_Mutation_p.S616*|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Nonsense_Mutation_p.S616*			P27816	MAP4_HUMAN	microtubule-associated protein 4	616					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.S616*(2)		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)		AGGTGCAGCTGACTGCCCCAC	0.428000													120	54					0	0	0.014410	0	0
AREL1	9870	broad.mit.edu	37	14	75142577	75142577	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr14:75142577T>C	ENST00000356357.4	-	8	1420	c.905A>G	c.(904-906)tAt>tGt	p.Y302C	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1									p.Y302C(1)									GGTAGCATTATAAAGATAAGC	0.468000													46	198					0	0	0.010771	0	0
NRIP2	83714	broad.mit.edu	37	12	2943997	2943997	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr12:2943997C>G	ENST00000337508.4	-	1	193	c.153G>C	c.(151-153)atG>atC	p.M51I		NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	51					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity	p.M51I(1)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GCTTGGTGCTCATGGCCCCTG	0.677000													30	419					0	0	0.013726	0	0
FOXI2	399823	broad.mit.edu	37	10	129536807	129536807	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr10:129536807G>A	ENST00000388920.4	+	2	574	c.535G>A	c.(535-537)Gac>Aac	p.D179N		NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	179					epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	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	p.D179N(1)		large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				CTGGACCCTGGACCCCAACTG	0.587000													4	7					0	0	0.000602	0	0
SCAND3	114821	broad.mit.edu	37	6	28540528	28540528	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr6:28540528C>A	ENST00000452236.2	-	4	3755	c.3138G>T	c.(3136-3138)atG>atT	p.M1046I		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1046					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.M1046I(1)		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						gatcagcttccatattatcac	0.299000													66	50					3.83939e-23	5.11476e-23	0.014410	1	0
ABCA13	154664	broad.mit.edu	37	7	48266982	48266982	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr7:48266982G>T	ENST00000435803.1	+	6	616	c.592G>T	c.(592-594)Ggc>Tgc	p.G198C		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	198					transport	integral to membrane	ATP binding|ATPase activity	p.G198C(1)|p.G143C(1)		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						TGTGGAAGATGGCATGGATGT	0.373000													51	57					4.98926e-31	6.90959e-31	0.014410	1	0
MYH7	4625	broad.mit.edu	37	14	23883231	23883231	+	Silent	SNP	G	G	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr14:23883231G>C	ENST00000355349.3	-	38	5802	c.5640C>G	c.(5638-5640)cgC>cgG	p.R1880R		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1880					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1880R(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTCGGCCTGGCGCTTGTAGG	0.652000													13	63					0	0	0.012319	0	0
GLRA1	2741	broad.mit.edu	37	5	151266343	151266343	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr5:151266343G>A	ENST00000274576.4	-	3	483	c.191C>T	c.(190-192)cCa>cTa	p.P64L	GLRA1_ENST00000455880.2_Missense_Mutation_p.P64L|GLRA1_ENST00000545569.1_5'UTR|GLRA1_ENST00000471351.2_5'UTR	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	64					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	p.P64L(1)		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)	CACGTTCACTGGGGGACCTGC	0.488000													9	40					0	0	0.013537	0	0
TSHR	7253	broad.mit.edu	37	14	81610058	81610058	+	Silent	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr14:81610058C>T	ENST00000541158.2	+	11	1978	c.1656C>T	c.(1654-1656)ctC>ctT	p.L552L	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Silent_p.L552L			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	552					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.L552L(1)		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)	GCTTCCTTCTCGCCCTGCTTC	0.557000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						29	131					0	0	0.008361	0	0
COL6A6	131873	broad.mit.edu	37	3	130290238	130290238	+	Splice_Site	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr3:130290238G>T	ENST00000358511.6	+	6	3008		c.e6+1		COL6A6_ENST00000453409.2_Splice_Site	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6						axon guidance|cell adhesion	collagen		p.?(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCAAAAGTAGGTAAGTTTTGC	0.423000													21	12					1.04121e-07	1.13883e-07	0.005443	1	0
XIRP2	129446	broad.mit.edu	37	2	168105626	168105626	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr2:168105626G>A	ENST00000409195.1	+	9	7813	c.7724G>A	c.(7723-7725)aGc>aAc	p.S2575N	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2353N|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2575N|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2400					actin cytoskeleton organization	cell junction	actin binding	p.S2575N(1)		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						AAAACTCAAAGCCAAAATCAA	0.338000													28	147					0	0	0.007291	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	82					0	0	0.009096	0	0
QSER1	79832	broad.mit.edu	37	11	32990614	32990614	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr11:32990614G>T	ENST00000399302.2	+	10	5078	c.4743G>T	c.(4741-4743)atG>atT	p.M1581I	QSER1_ENST00000527788.1_Missense_Mutation_p.M1342I	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1581								p.M1581I(1)		breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TACCTCATATGAAAAAAATAG	0.274000													14	53					2.94398e-08	3.23838e-08	0.007413	1	0
SETBP1	26040	broad.mit.edu	37	18	42532073	42532073	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr18:42532073T>A	ENST00000282030.5	+	4	3064	c.2768T>A	c.(2767-2769)aTt>aAt	p.I923N		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	923						nucleus	DNA binding	p.I869N(1)|p.I923N(1)		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)		AAGCATCTCATTGTGGACAAC	0.537000									Schinzel-Giedion syndrome				19	20					0	0	0.012319	0	0
DLC1	10395	broad.mit.edu	37	8	12957250	12957250	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr8:12957250G>A	ENST00000276297.4	-	9	3005	c.2596C>T	c.(2596-2598)Cgc>Tgc	p.R866C	DLC1_ENST00000358919.2_Missense_Mutation_p.R429C|DLC1_ENST00000520226.1_Missense_Mutation_p.R355C|DLC1_ENST00000512044.2_Missense_Mutation_p.R463C	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	866					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.R866C(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GAAGAATTGCGTCTCTTCAGT	0.587000													17	13					0	0	0.008871	0	0
IL31	386653	broad.mit.edu	37	12	122657100	122657100	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr12:122657100A>T	ENST00000377035.1	-	3	380	c.354T>A	c.(352-354)gaT>gaA	p.D118E		NM_001014336.1	NP_001014358.1	Q6EBC2	IL31_HUMAN	interleukin 31	118						extracellular space	cytokine activity	p.D118E(1)		central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TTTCTGGTGCATCTTGAAATA	0.438000													68	115					0	0	0.014410	0	0
EFTUD1	79631	broad.mit.edu	37	15	82456214	82456214	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr15:82456214G>T	ENST00000268206.7	-	16	2030	c.1862C>A	c.(1861-1863)gCt>gAt	p.A621D	EFTUD1_ENST00000359445.3_Missense_Mutation_p.A570D	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	621					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	p.A621D(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TGGTTCAACAGCAACTCTCAC	0.363000													5	81					3.59834e-05	3.80593e-05	0.001168	1	0
DBN1	1627	broad.mit.edu	37	5	176894024	176894024	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr5:176894024C>T	ENST00000292385.5	-	8	1210	c.601G>A	c.(601-603)Gcc>Acc	p.A201T	DBN1_ENST00000309007.5_Missense_Mutation_p.A199T|DBN1_ENST00000393565.1_Missense_Mutation_p.A199T	NM_080881.2	NP_543157.1	Q16643	DREB_HUMAN	drebrin 1	199					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding	p.A199T(1)|p.A201T(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	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)			TCATCCAGGGCCTTCTTCCGC	0.672000													24	95					0	0	0.005443	0	0
COL20A1	57642	broad.mit.edu	37	20	61929352	61929352	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr20:61929352T>A	ENST00000422202.1	+	2	241	c.173T>A	c.(172-174)gTg>gAg	p.V58E	COL20A1_ENST00000435874.1_Missense_Mutation_p.V58E|COL20A1_ENST00000358894.6_Missense_Mutation_p.V58E|COL20A1_ENST00000326996.6_Missense_Mutation_p.V58E			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	58	Fibronectin type-III 1.				cell adhesion	collagen|extracellular space	structural molecule activity	p.V58E(1)		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)					GGCTACCTGGTGCAGGTGAAG	0.652000													7	21					0	0	0.006214	0	0
EDAR	10913	broad.mit.edu	37	2	109547432	109547432	+	Silent	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr2:109547432G>T	ENST00000409271.1	-	3	482	c.39C>A	c.(37-39)ctC>ctA	p.L13L	EDAR_ENST00000258443.2_Silent_p.L13L|EDAR_ENST00000376651.1_Silent_p.L13L			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	13					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	p.L13L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CCAGGACGGGGAGCCAGGGCG	0.597000													19	153					1.55795e-14	1.89214e-14	0.012319	1	0
OLAH	55301	broad.mit.edu	37	10	15107658	15107658	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr10:15107658G>T	ENST00000378217.3	+	7	824	c.637G>T	c.(637-639)Gga>Tga	p.G213*	OLAH_ENST00000378228.3_Nonsense_Mutation_p.G160*|OLAH_ENST00000485251.1_3'UTR	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	160					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	p.G213*(1)		endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						TATGGAATTTGGAGGCACCCC	0.413000													34	60					1.26612e-14	1.54258e-14	0.003271	1	0
SORCS3	22986	broad.mit.edu	37	10	106970956	106970956	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr10:106970956G>T	ENST00000369701.3	+	17	2550	c.2323G>T	c.(2323-2325)Gca>Tca	p.A775S	SORCS3_ENST00000369699.4_Missense_Mutation_p.A61S	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	775						integral to membrane	neuropeptide receptor activity	p.A775S(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)		GTACAATCCAGCATCCCCATC	0.453000													20	25					1.28384e-07	1.40022e-07	0.012319	1	0
OTOGL	283310	broad.mit.edu	37	12	80717559	80717559	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr12:80717559G>T	ENST00000458043.2	+	34	4117	c.4111G>T	c.(4111-4113)Gct>Tct	p.A1371S	OTOGL_ENST00000547103.1_Missense_Mutation_p.A1371S	NM_173591.3	NP_775862.3			otogelin-like									p.A1371S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TGAACCTTGTGCTACACCCTG	0.383000													38	43					2.00842e-17	2.53522e-17	0.010771	1	0
CSRNP3	80034	broad.mit.edu	37	2	166451720	166451720	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr2:166451720A>C	ENST00000314499.7	+	4	521	c.145A>C	c.(145-147)Acc>Ccc	p.T49P	CSRNP3_ENST00000409420.1_Missense_Mutation_p.T81P|CSRNP3_ENST00000342316.4_Missense_Mutation_p.T49P	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	49	Ser-rich.				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.T49P(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TAGTCATTTTACCCGTGAGTA	0.408000													68	70					0	0	0.014410	0	0
OSMR	9180	broad.mit.edu	37	5	38919157	38919157	+	Silent	SNP	C	C	T	rs61734274	byFrequency	TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr5:38919157C>T	ENST00000274276.3	+	11	1980	c.1578C>T	c.(1576-1578)ccC>ccT	p.P526P		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	526	Fibronectin type-III 3.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	p.P526P(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CTGCAGACCCCGAAAACAGTG	0.373000													48	69					0	0	0.014410	0	0
KIF2B	84643	broad.mit.edu	37	17	51901812	51901812	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr17:51901812A>G	ENST00000268919.4	+	1	1574	c.1418A>G	c.(1417-1419)aAg>aGg	p.K473R		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	473	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	p.K473R(1)		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						GAGATTAACAAGAGTCTTCTA	0.512000													19	54					0	0	0.008871	0	0
SNHG14	104472715	broad.mit.edu	37	15	25468258	25468258	+	RNA	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr15:25468258C>A	ENST00000453082.2	+	0	806					NR_003343.1																						TGAGCCAGTGCCCATCACCCA	0.607000													20	15					1.10513e-12	1.3132e-12	0.014323	1	0
MACF1	23499	broad.mit.edu	37	1	39844179	39844179	+	Silent	SNP	A	A	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:39844179A>G	ENST00000564288.1	+	53	14037	c.13260A>G	c.(13258-13260)ggA>ggG	p.G4420G	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Silent_p.G2860G|MACF1_ENST00000372915.3_Silent_p.G4425G|MACF1_ENST00000317713.7_Silent_p.G2358G|MACF1_ENST00000545844.1_Silent_p.G2358G|MACF1_ENST00000361689.2_Silent_p.G2358G|MACF1_ENST00000567887.1_Silent_p.G4457G			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4425					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	p.G2860G(1)|p.G2358G(1)		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)			GTGTAAACGGATACCACACCT	0.458000													30	54					0	0	0.004289	0	0
IGDCC3	9543	broad.mit.edu	37	15	65622919	65622919	+	Silent	SNP	T	T	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr15:65622919T>C	ENST00000327987.4	-	10	1973	c.1722A>G	c.(1720-1722)ggA>ggG	p.G574G		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	574	Fibronectin type-III 2.							p.G574G(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGGAGACGGTTCCAGGCAGCA	0.672000													37	48					0	0	0.014410	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986489	51986489	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr19:51986489G>T	ENST00000396477.4	+	4	913	c.892G>T	c.(892-894)Gtg>Ttg	p.V298L	CEACAM18_ENST00000451626.1_Missense_Mutation_p.V359L	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	359	Ig-like C2-type.					integral to membrane		p.V298L(1)|p.V359L(1)		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)		CCGATGCACTGTGGAGAACCC	0.562000													43	36					1.61004e-24	2.16736e-24	0.014410	1	0
OR2AG2	338755	broad.mit.edu	37	11	6789756	6789756	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr11:6789756C>T	ENST00000338569.2	-	1	530	c.433G>A	c.(433-435)Gtg>Atg	p.V145M		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V145M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GATGTGGCCACCATGATCCAG	0.512000													32	39					0	0	0.004289	0	0
EHMT1	79813	broad.mit.edu	37	9	140611349	140611349	+	Silent	SNP	C	C	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr9:140611349C>G	ENST00000460843.1	+	3	384	c.357C>G	c.(355-357)gtC>gtG	p.V119V	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Silent_p.V88V|EHMT1_ENST00000462484.1_Silent_p.V119V	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	119					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	p.V119V(1)|p.V88V(1)		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)		AGACTTCTGTCATCGGCAGCA	0.537000													78	35					0	0	0.014410	0	0
OR5H15	403274	broad.mit.edu	37	3	97887574	97887574	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr3:97887574G>T	ENST00000356526.2	+	1	31	c.31G>T	c.(31-33)Gag>Tag	p.E11*		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E11*(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						ATTGCTGACAGAGTTTGTTCT	0.383000													137	74					6.2965e-74	9.21731e-74	0.014410	1	0
POLE	5426	broad.mit.edu	37	12	133237666	133237666	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr12:133237666C>G	ENST00000320574.5	-	25	2992	c.2949G>C	c.(2947-2949)aaG>aaC	p.K983N	POLE_ENST00000535270.1_Missense_Mutation_p.K956N	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	983					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|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	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	p.K983N(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		ATTGGAAGATCTTAATCAGCT	0.517000								DNA polymerases (catalytic subunits)					120	228					0	0	0.014410	0	0
ISCU	23479	broad.mit.edu	37	12	108959109	108959109	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr12:108959109G>A	ENST00000535729.1	+	3	263	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	ISCU_ENST00000311893.9_Missense_Mutation_p.E81K|ISCU_ENST00000338291.4_Missense_Mutation_p.E56K|ISCU_ENST00000539593.1_Missense_Mutation_p.E81K|ISCU_ENST00000431221.2_Missense_Mutation_p.E81K|ISCU_ENST00000547005.1_Missense_Mutation_p.E81K|ISCU_ENST00000392807.4_Missense_Mutation_p.E56K			Q9H1K1	ISCU_HUMAN	iron-sulfur cluster assembly enzyme	81					iron-sulfur cluster assembly|nitrogen fixation	cytosol|mitochondrion|nucleus	iron ion binding|iron-sulfur cluster binding|protein complex scaffold	p.E56K(1)		kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						TCAAGTGGATGAAAAGGGGAA	0.493000													22	65					0	0	0.009535	0	0
UBE4A	9354	broad.mit.edu	37	11	118250358	118250358	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr11:118250358C>T	ENST00000252108.3	+	11	1900	c.1769C>T	c.(1768-1770)tCc>tTc	p.S590F	UBE4A_ENST00000431736.2_Missense_Mutation_p.S597F|UBE4A_ENST00000545354.1_Missense_Mutation_p.S62F	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	590					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	p.S597F(1)		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)		TTGCAGGTGTCCATGGCTGTT	0.473000													36	48					0	0	0.007835	0	0
HFM1	164045	broad.mit.edu	37	1	91727809	91727809	+	Silent	SNP	T	T	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:91727809T>C	ENST00000370425.3	-	38	4325	c.4227A>G	c.(4225-4227)gaA>gaG	p.E1409E	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Silent_p.E1088E|HFM1_ENST00000294696.5_3'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1409							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.E1409E(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TGAAATCAACTTCCTTTTTAC	0.264000													14	13					0	0	0.002450	0	0
PBXIP1	57326	broad.mit.edu	37	1	154923837	154923837	+	Missense_Mutation	SNP	G	G	A	rs144138798		TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:154923837G>A	ENST00000368463.3	-	5	351	c.280C>T	c.(280-282)Cct>Tct	p.P94S	PBXIP1_ENST00000542459.1_Intron|PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000368460.3_Missense_Mutation_p.P94S|PBXIP1_ENST00000368465.1_Missense_Mutation_p.P65S|PBXIP1_ENST00000539880.1_Intron	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	94					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	p.P94S(1)		breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	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)			CCTGGGCCAGGAGGCTCCACA	0.622000													30	74					0	0	0.010818	0	0
CD6	923	broad.mit.edu	37	11	60785317	60785317	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr11:60785317C>T	ENST00000313421.7	+	11	1855	c.1669C>T	c.(1669-1671)Cac>Tac	p.H557Y	CD6_ENST00000344028.5_Missense_Mutation_p.H525Y|CD6_ENST00000346437.4_Missense_Mutation_p.H484Y|CD6_ENST00000352009.5_Missense_Mutation_p.H525Y|CD6_ENST00000452451.2_Missense_Mutation_p.H516Y	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	557					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	p.H557Y(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CCCTCAGTATCACCCGAGGAG	0.552000													51	59					0	0	0.014410	0	0
OR56A1	120796	broad.mit.edu	37	11	6048374	6048374	+	Silent	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr11:6048374G>T	ENST00000316650.5	-	1	597	c.561C>A	c.(559-561)gcC>gcA	p.A187A		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A187A(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGACAAGTTGGCACAGATGC	0.473000													47	64					8.72198e-27	1.19077e-26	0.014410	1	0
CCDC173	129881	broad.mit.edu	37	2	170505760	170505760	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr2:170505760C>T	ENST00000447353.1	-	8	1354	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173									p.E411K(1)									TTCTCCTTTTCATGTTCCCAG	0.333000													7	41					0	0	0.003080	0	0
NMUR2	56923	broad.mit.edu	37	5	151784223	151784223	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr5:151784223G>C	ENST00000255262.3	-	1	617	c.452C>G	c.(451-453)cCg>cGg	p.P151R	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	151					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	p.P151R(1)		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)			GGCGCGGAACGGGTGTAGGAT	0.642000													39	54					0	0	0.013114	0	0
CACHD1	57685	broad.mit.edu	37	1	64936557	64936557	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:64936557G>A	ENST00000371073.2	+	1	130	c.130G>A	c.(130-132)Gag>Aag	p.E44K	CACHD1_ENST00000290039.5_5'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	44					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						CATCCTGGACGAGGCGCAAGT	0.741000													6	8					0	0	0.006214	0	0
LGR5	8549	broad.mit.edu	37	12	71978259	71978259	+	Silent	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr12:71978259C>T	ENST00000266674.5	+	18	2780	c.2469C>T	c.(2467-2469)ttC>ttT	p.F823F	LGR5_ENST00000540815.2_Silent_p.F799F|LGR5_ENST00000536515.1_Silent_p.F751F			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	823						integral to plasma membrane	protein-hormone receptor activity	p.F823F(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						ACATCTTGTTCAATCCTCACT	0.408000													52	103					0	0	0.014410	0	0
BBS9	27241	broad.mit.edu	37	7	33397600	33397600	+	Silent	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr7:33397600C>A	ENST00000242067.6	+	16	2207	c.1686C>A	c.(1684-1686)ctC>ctA	p.L562L	BBS9_ENST00000396127.2_Silent_p.L527L|BBS9_ENST00000350941.3_Silent_p.L522L|BBS9_ENST00000354265.4_Silent_p.L527L|BBS9_ENST00000355070.2_Silent_p.L557L	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	562					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.L562L(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTCTTAGTCTCTTCCCAGGTA	0.383000									Bardet-Biedl syndrome				9	146					0.00448238	0.00460191	0.004482	1	0
APOB	338	broad.mit.edu	37	2	21235078	21235078	+	Silent	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr2:21235078G>T	ENST00000233242.1	-	26	4789	c.4662C>A	c.(4660-4662)atC>atA	p.I1554I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1554					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.I1554I(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)	TATTTTTAATGATGCCACTTT	0.433000													14	93					9.16793e-09	1.02309e-08	0.004990	1	0
FBXO18	84893	broad.mit.edu	37	10	5955790	5955790	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr10:5955790C>T	ENST00000379999.5	+	8	1549	c.1445C>T	c.(1444-1446)tCt>tTt	p.S482F	FBXO18_ENST00000379994.1_Missense_Mutation_p.S168F|FBXO18_ENST00000362091.4_Missense_Mutation_p.S431F|FBXO18_ENST00000397269.3_5'UTR	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	431					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.S482F(1)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GAGGAGCCATCTGTCTGGCCA	0.423000													29	61					0	0	0.003755	0	0
SLC35F3	148641	broad.mit.edu	37	1	234454683	234454683	+	Silent	SNP	T	T	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:234454683T>C	ENST00000366618.3	+	6	1286	c.1141T>C	c.(1141-1143)Tta>Cta	p.L381L	SLC35F3_ENST00000366617.3_Silent_p.L312L	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	312					transport	integral to membrane		p.L381L(1)		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)			TTCAGTTCTTTTATTGAGTAA	0.438000													63	172					0	0	0.014410	0	0
ACAN	176	broad.mit.edu	37	15	89386649	89386649	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr15:89386649G>A	ENST00000439576.2	+	6	1195	c.821G>A	c.(820-822)cGg>cAg	p.R274Q	ACAN_ENST00000352105.7_Missense_Mutation_p.R274Q|ACAN_ENST00000559004.1_Missense_Mutation_p.R274Q|ACAN_ENST00000558207.1_Missense_Mutation_p.R274Q|ACAN_ENST00000561243.1_Missense_Mutation_p.R274Q	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	274					cell adhesion		hyaluronic acid binding|sugar binding	p.R274Q(2)		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)			AATGAGTGCCGGCGGCTGGGT	0.637000													3	18					0	0	0.000602	0	0
PTPRB	5787	broad.mit.edu	37	12	71016248	71016248	+	Silent	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr12:71016248G>A	ENST00000334414.6	-	3	674	c.630C>T	c.(628-630)ccC>ccT	p.P210P	PTPRB_ENST00000551525.1_Silent_p.P209P|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Silent_p.P210P	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 3.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P210H(1)		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)			TGTGCAGATTGGGATGCTGCC	0.488000													29	77					0	0	0.009535	0	0
SYTL2	54843	broad.mit.edu	37	11	85428555	85428555	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr11:85428555T>C	ENST00000354566.3	-	4	2611	c.2600A>G	c.(2599-2601)aAg>aGg	p.K867R	SYTL2_ENST00000524452.1_Missense_Mutation_p.K545R|SYTL2_ENST00000389960.4_Missense_Mutation_p.K545R|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Missense_Mutation_p.K497R|SYTL2_ENST00000389958.3_Intron|SYTL2_ENST00000359152.5_Intron|SYTL2_ENST00000525423.1_Intron|SYTL2_ENST00000529581.1_5'UTR|SYTL2_ENST00000528566.1_Intron|SYTL2_ENST00000533892.1_5'UTR	NM_206927.2	NP_996810.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	538	C2 2.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	p.K867R(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TGTAACTGGCTTCTGATCTGG	0.343000													75	122					0	0	0.014410	0	0
TRIM7	81786	broad.mit.edu	37	5	180625764	180625764	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr5:180625764G>C	ENST00000393315.1	-	5	987	c.290C>G	c.(289-291)tCt>tGt	p.S97C	CTC-338M12.6_ENST00000502812.2_RNA|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000393319.3_Missense_Mutation_p.S123C|TRIM7_ENST00000274773.7_Missense_Mutation_p.S305C|TRIM7_ENST00000422067.2_Missense_Mutation_p.S97C|TRIM7_ENST00000361809.3_Missense_Mutation_p.S97C|CTC-338M12.6_ENST00000509080.1_RNA	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	305						cytoplasm|nucleus	zinc ion binding	p.S305C(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CTTCATCTCAGAAGAGACTGT	0.527000													10	34					0	0	0.010729	0	0
ALPK3	57538	broad.mit.edu	37	15	85401093	85401093	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr15:85401093G>A	ENST00000258888.5	+	6	3897	c.3730G>A	c.(3730-3732)Ggc>Agc	p.G1244S		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1244					heart development	nucleus	ATP binding|protein serine/threonine kinase activity	p.G1244S(2)		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)			CCGCCTCACCGGCCTCCTGGA	0.682000													9	25					0	0	0.003163	0	0
OR7E24	26648	broad.mit.edu	37	19	9361887	9361887	+	Silent	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr19:9361887G>A	ENST00000456448.1	+	1	282	c.168G>A	c.(166-168)acG>acA	p.T56T		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T56T(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						ACCTGGTCACGGTGCTGGGGA	0.577000													32	20					0	0	0.003755	0	0
C14orf39	317761	broad.mit.edu	37	14	60938435	60938435	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr14:60938435A>G	ENST00000321731.3	-	6	505	c.346T>C	c.(346-348)Tgt>Cgt	p.C116R		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	116								p.C116R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TTATACTGACATATATAATCA	0.274000													18	13					0	0	0.006122	0	0
REG1P	5969	broad.mit.edu	37	2	79364398	79364398	+	RNA	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr2:79364398G>T	ENST00000444841.1	-	0	236																											AGTAGCAGTGGGAGCCTTAGG	0.542000													19	12					1.96895e-08	2.17205e-08	0.002780	1	0
VCAN	1462	broad.mit.edu	37	5	82833543	82833543	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr5:82833543T>A	ENST00000265077.3	+	8	5286	c.4721T>A	c.(4720-4722)gTa>gAa	p.V1574E	VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.V587E|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1574	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.V1574E(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)		GGTGAAGAGGTAGAAAAAAGT	0.408000													32	67					0	0	0.003271	0	0
CSMD3	114788	broad.mit.edu	37	8	113933972	113933972	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr8:113933972G>A	ENST00000297405.5	-	10	1761	c.1517C>T	c.(1516-1518)tCa>tTa	p.S506L	CSMD3_ENST00000352409.3_Missense_Mutation_p.S506L|CSMD3_ENST00000455883.2_Missense_Mutation_p.S402L|CSMD3_ENST00000343508.3_Missense_Mutation_p.S466L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	506	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						CTGCACAGTTGATCCAAGGCT	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			37	86					0	0	0.006230	0	0
ZNF780A	284323	broad.mit.edu	37	19	40581599	40581599	+	Missense_Mutation	SNP	T	T	A	rs140183562	byFrequency	TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr19:40581599T>A	ENST00000450241.2	-	6	959	c.648A>T	c.(646-648)gaA>gaT	p.E216D	AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Missense_Mutation_p.E250D|ZNF780A_ENST00000340963.5_Missense_Mutation_p.E250D|ZNF780A_ENST00000455521.1_Missense_Mutation_p.E251D|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.E251D			O75290	Z780A_HUMAN	zinc finger protein 780A	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E251D(2)|p.E216D(2)		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)					ATTCCTTACATTCAAACAGTT	0.393000													98	73					0	0	0.014410	0	0
HECTD4	283450	broad.mit.edu	37	12	112622801	112622801	+	Silent	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr12:112622801G>T	ENST00000550722.1	-	61	9926	c.9531C>A	c.(9529-9531)tcC>tcA	p.S3177S	HECTD4_ENST00000377560.5_Silent_p.S3151S|HECTD4_ENST00000430131.2_Silent_p.S2901S	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4									p.S2901S(1)|p.S3151S(1)									TGCCCGACGAGGAGGCCTTTT	0.632000													4	14					3.09899e-07	3.36087e-07	0.004482	1	0
WNT2	7472	broad.mit.edu	37	7	116937675	116937675	+	Silent	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr7:116937675G>T	ENST00000265441.3	-	4	1143	c.844C>A	c.(844-846)Cga>Aga	p.R282R		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	282					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	p.R282R(1)		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)		CCTGCCTCTCGGTCCCTGATA	0.403000													68	42					1.86864e-30	2.56939e-30	0.014410	1	0
CELSR3	1951	broad.mit.edu	37	3	48697690	48697690	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr3:48697690A>G	ENST00000544264.1	-	1	2658	c.2378T>C	c.(2377-2379)aTc>aCc	p.I793T	CELSR3_ENST00000164024.4_Missense_Mutation_p.I793T			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	793	Cadherin 5.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.I793T(1)		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)		GCCGCCTGTGATCTGGTAGCT	0.592000													10	59					0	0	0.010729	0	0
RBFOX1	54715	broad.mit.edu	37	16	7703845	7703845	+	Silent	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr16:7703845C>A	ENST00000340209.4	+	9	1098	c.801C>A	c.(799-801)acC>acA	p.T267T	RBFOX1_ENST00000547338.1_Silent_p.T262T|RBFOX1_ENST00000355637.4_Silent_p.T282T|RBFOX1_ENST00000535565.2_Silent_p.T219T|RBFOX1_ENST00000553186.1_Silent_p.T235T|RBFOX1_ENST00000311745.5_Silent_p.T282T|RBFOX1_ENST00000552089.1_Silent_p.T279T|RBFOX1_ENST00000436368.2_Silent_p.T282T|RBFOX1_ENST00000547372.1_Silent_p.T305T|RBFOX1_ENST00000550418.1_Silent_p.T262T|RBFOX1_ENST00000422070.4_Silent_p.T305T			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	262					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	p.T282T(2)|p.T262T(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CAGCAGCCACCGCCGCGGCCG	0.706000													7	17					2.32078e-09	2.62795e-09	0.003163	1	0
LRP1B	53353	broad.mit.edu	37	2	141110564	141110564	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr2:141110564C>T	ENST00000389484.3	-	76	12579	c.11608G>A	c.(11608-11610)Gac>Aac	p.D3870N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3870	EGF-like 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D3870N(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)		AAATTCTGGTCACACACACAT	0.323000										TSP Lung(27;0.18)			26	157					0	0	0.007291	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132388	59132388	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr11:59132388G>A	ENST00000313940.2	+	1	504	c.457G>A	c.(457-459)Ggc>Agc	p.G153S		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G153S(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CTACATGACTGGCCTCACTGC	0.468000													50	141					0	0	0.014410	0	0
MYH1	4619	broad.mit.edu	37	17	10419599	10419599	+	Nonsense_Mutation	SNP	C	C	A	rs149095511		TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr17:10419599C>A	ENST00000226207.5	-	4	359	c.265G>T	c.(265-267)Gag>Tag	p.E89*	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	89	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.E89*(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						GCCATGTCCTCGATCTTGTCA	0.478000													83	78					1.02218e-41	1.44684e-41	0.014410	1	0
TRAV12-2	28673	broad.mit.edu	37	14	22356394	22356394	+	RNA	SNP	G	G	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr14:22356394G>C	ENST00000390437.2	+	0	157																											TTTCACAGGGGTTTGGAGCCA	0.502000													8	31					0	0	0.008291	0	0
STXBP1	6812	broad.mit.edu	37	9	130428493	130428493	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr9:130428493G>C	ENST00000373302.3	+	9	851	c.712G>C	c.(712-714)Gac>Cac	p.D238H	STXBP1_ENST00000373299.1_Missense_Mutation_p.D238H	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	238					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	p.D238H(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TCGAGGCTTTGACCCCAGCTC	0.517000													47	37					0	0	0.014410	0	0
DST	667	broad.mit.edu	37	6	56471080	56471080	+	Silent	SNP	A	A	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr6:56471080A>G	ENST00000370754.5	-	39	8246	c.8247T>C	c.(8245-8247)acT>acC	p.T2749T	DST_ENST00000361203.3_Silent_p.T2571T|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Silent_p.T2571T|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Silent_p.T2571T|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Silent_p.T2245T			Q03001	DYST_HUMAN	dystonin	2571					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTAAATGATCAGTATCGGAGT	0.373000													10	9					0	0	0.008291	0	0
DEPDC5	9681	broad.mit.edu	37	22	32302347	32302347	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr22:32302347G>T	ENST00000400246.1	+	42	4757	c.4615G>T	c.(4615-4617)Gct>Tct	p.A1539S	DEPDC5_ENST00000382111.2_Missense_Mutation_p.A1539S|DEPDC5_ENST00000382112.3_Missense_Mutation_p.R1550L|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R1459L|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R1537L|DEPDC5_ENST00000539165.1_Missense_Mutation_p.R376L|DEPDC5_ENST00000400248.1_Missense_Mutation_p.R1528L|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R1528L|DEPDC5_ENST00000382105.2_3'UTR			O75140	DEPD5_HUMAN	DEP domain containing 5	0					intracellular signal transduction			p.R1528L(1)|p.R1459L(1)		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						AAAACATGGCGCTCCAGCGCC	0.582000													81	56					3.46703e-50	5.01807e-50	0.014410	1	0
HHAT	55733	broad.mit.edu	37	1	210847693	210847693	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:210847693C>T	ENST00000367010.1	+	12	1681	c.1454C>T	c.(1453-1455)gCc>gTc	p.A485V	HHAT_ENST00000545781.1_Missense_Mutation_p.A422V|HHAT_ENST00000545154.1_Missense_Mutation_p.A486V|HHAT_ENST00000541565.1_Missense_Mutation_p.A348V|HHAT_ENST00000413764.2_Missense_Mutation_p.A485V|HHAT_ENST00000261458.3_Missense_Mutation_p.A485V|HHAT_ENST00000308852.6_Missense_Mutation_p.A440V|HHAT_ENST00000537898.1_Missense_Mutation_p.A420V|HHAT_ENST00000367009.1_Missense_Mutation_p.A175V	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	485					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	p.A485V(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTGGGCATTGCCTGGGCCCAG	0.587000													45	64					0	0	0.010771	0	0
MUC16	94025	broad.mit.edu	37	19	9086155	9086155	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr19:9086155G>C	ENST00000397910.4	-	1	5863	c.5660C>G	c.(5659-5661)tCt>tGt	p.S1887C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1887	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S1887C(2)		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						GTTTCCCATAGACAGGGACTT	0.502000													22	24					0	0	0.012319	0	0
MAGEB1	4112	broad.mit.edu	37	X	30268769	30268769	+	Silent	SNP	T	T	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chrX:30268769T>A	ENST00000378981.3	+	4	480	c.159T>A	c.(157-159)ccT>ccA	p.P53P	MAGEB1_ENST00000397548.2_Silent_p.P53P|MAGEB1_ENST00000397550.1_Silent_p.P53P	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	53								p.P53P(1)		NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CAAGCTCCCCTGCTGCTGGCA	0.587000													6	7					0	0	0.001984	0	0
GLI1	2735	broad.mit.edu	37	12	57863398	57863398	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr12:57863398T>G	ENST00000228682.2	+	11	1584	c.1493T>G	c.(1492-1494)cTt>cGt	p.L498R	GLI1_ENST00000546141.1_Missense_Mutation_p.L457R|GLI1_ENST00000543426.1_Missense_Mutation_p.L370R	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	498					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	p.L498R(1)		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)			CTTCGCCGCCTTGAGAACCTC	0.602000													19	101					0	0	0.014410	0	0
MED13L	23389	broad.mit.edu	37	12	116413452	116413452	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr12:116413452G>A	ENST00000281928.3	-	24	5662	c.5456C>T	c.(5455-5457)gCg>gTg	p.A1819V		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1819					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			p.A1819V(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTTCTGGCTCGCCTCACCAAA	0.522000													25	54					0	0	0.005443	0	0
MIR665	100126315	broad.mit.edu	37	14	101341417	101341417	+	RNA	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr14:101341417G>T	ENST00000606903.1	+	0	48					NR_030617.1																						TCATGACCAGGAGGCTGAGGC	0.602000													19	26					1.96895e-08	2.17205e-08	0.002780	1	0
VSIG2	23584	broad.mit.edu	37	11	124621476	124621476	+	Splice_Site	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr11:124621476C>T	ENST00000403470.1	-	2	117	c.61_splice	c.e2-1	p.G21_splice	VSIG2_ENST00000326621.5_Splice_Site_p.G21_splice			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	21				Missing (in Ref. 1; AAD17522).		integral to plasma membrane|membrane fraction		p.G21E(1)		central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|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;0.0215)		CACGGCCAGCCCTGGGGCCGG	0.667000													13	38					0	0	0.013537	0	0
TENM4	26011	broad.mit.edu	37	11	78433860	78433860	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr11:78433860G>T	ENST00000278550.7	-	24	4115	c.3653C>A	c.(3652-3654)cCc>cAc	p.P1218H		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.P1218H(2)									GTTGCAGCTGGGGCAGGAGAT	0.582000													14	44					2.4624e-09	2.772e-09	0.008871	1	0
HIST2H2BE	8349	broad.mit.edu	37	1	149858184	149858184	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:149858184C>G	ENST00000369155.2	-	1	48	c.7G>C	c.(7-9)Gaa>Caa	p.E3Q		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	3					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.E3Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TTTGCCGGTTCAGGCATGGTA	0.512000													21	81					0	0	0.008871	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043249	71043249	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr2:71043249G>A	ENST00000272367.2	-	4	1340	c.1264C>T	c.(1264-1266)Cag>Tag	p.Q422*	CLEC4F_ENST00000426626.1_Nonsense_Mutation_p.Q422*	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	422					endocytosis	integral to membrane	receptor activity|sugar binding	p.Q422*(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CTTAACCTCTGGATCTCGGCA	0.483000													39	40					0	0	0.004878	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	182248	182248	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr5:182248C>T	ENST00000283426.6	+	18	3676	c.3626C>T	c.(3625-3627)tCg>tTg	p.S1209L		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1209	Ser-rich.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.S1209L(1)		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)		ATCCTGGGGTCGCTGGGCCTG	0.637000													46	53					0	0	0.014410	0	0
SLC9A2	6549	broad.mit.edu	37	2	103317603	103317603	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr2:103317603C>G	ENST00000233969.2	+	8	1803	c.1661C>G	c.(1660-1662)tCt>tGt	p.S554C	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	554						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.S554C(1)		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						AGTATTGTATCTTTATATAAA	0.328000													21	54					0	0	0.012319	0	0
ACSM5	54988	broad.mit.edu	37	16	20430688	20430688	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr16:20430688C>A	ENST00000331849.4	+	4	701	c.554C>A	c.(553-555)tCc>tAc	p.S185Y	ACSM5_ENST00000575584.1_Missense_Mutation_p.S185Y	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	185					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.S185Y(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GAATGCCCCTCCCTCCAGACC	0.582000													24	59					0.00047179	0.000489593	0.003330	1	0
DBN1	1627	broad.mit.edu	37	5	176885526	176885526	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr5:176885526C>A	ENST00000292385.5	-	13	1924	c.1315G>T	c.(1315-1317)Gag>Tag	p.E439*	DBN1_ENST00000309007.5_Nonsense_Mutation_p.E437*|DBN1_ENST00000393563.4_Nonsense_Mutation_p.E169*|DBN1_ENST00000393565.1_Nonsense_Mutation_p.E483*|DBN1_ENST00000512501.1_Nonsense_Mutation_p.E169*	NM_080881.2	NP_543157.1	Q16643	DREB_HUMAN	drebrin 1	437					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding	p.E437*(1)|p.E439*(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	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)			GTGGCAGGCTCCACGGGAGCA	0.637000													16	41					2.4624e-09	2.772e-09	0.008871	1	0
CFAP221	200373	broad.mit.edu	37	2	120387532	120387532	+	Splice_Site	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr2:120387532G>A	ENST00000602047.1	+	18	1985		c.e18+1		PCDP1_ENST00000413369.3_Splice_Site			Q4G0U5	PCDP1_HUMAN								cilium	calmodulin binding	p.?(1)				Colorectal(110;0.196)					CAATCTGCAGGTCAGACCTGT	0.338000													24	84					0	0	0.003330	0	0
OR10AD1	121275	broad.mit.edu	37	12	48596695	48596695	+	Silent	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr12:48596695G>A	ENST00000310248.2	-	1	475	c.381C>T	c.(379-381)atC>atT	p.I127I		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I127I(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						GTGGGTAGCAGATAGCAACAT	0.488000													22	31					0	0	0.004656	0	0
GRM7	2917	broad.mit.edu	37	3	7620469	7620469	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr3:7620469C>G	ENST00000486284.1	+	8	2150	c.1876C>G	c.(1876-1878)Cgg>Ggg	p.R626G	GRM7_ENST00000402647.2_Missense_Mutation_p.R626G|GRM7_ENST00000403881.1_Missense_Mutation_p.R626G|GRM7_ENST00000389336.4_Missense_Mutation_p.R626G|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000357716.4_Missense_Mutation_p.R626G	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	626					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	p.R626G(1)		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)	GGCATCTGGGCGGGAACTCAG	0.502000													89	65					0	0	0.014410	0	0
CCDC108	255101	broad.mit.edu	37	2	219892544	219892544	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr2:219892544G>T	ENST00000341552.5	-	13	2122	c.2039C>A	c.(2038-2040)aCc>aAc	p.T680N	CCDC108_ENST00000410037.1_Missense_Mutation_p.T615N|CCDC108_ENST00000409865.3_Missense_Mutation_p.T669N|CCDC108_ENST00000453220.1_Missense_Mutation_p.T680N|CCDC108_ENST00000441968.1_Missense_Mutation_p.T680N	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	680						integral to membrane	structural molecule activity	p.T680N(1)		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)		CTTGCCCTTGGTGTGGTTCAT	0.627000													19	59					2.35188e-11	2.72733e-11	0.006122	1	0
SETD3	84193	broad.mit.edu	37	14	99879343	99879343	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr14:99879343C>A	ENST00000331768.5	-	8	953	c.794G>T	c.(793-795)cGc>cTc	p.R265L	SETD3_ENST00000436070.2_Missense_Mutation_p.R265L|SETD3_ENST00000329331.3_Missense_Mutation_p.R265L	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	265	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	p.R265L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				CAGGGTCACGCGGGAACCATC	0.473000													23	40					4.26978e-12	5.04253e-12	0.003330	1	0
ZNF831	128611	broad.mit.edu	37	20	57769595	57769595	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr20:57769595T>G	ENST00000371030.2	+	1	3521	c.3521T>G	c.(3520-3522)tTt>tGt	p.F1174C		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1174						intracellular	nucleic acid binding|zinc ion binding	p.F1174C(1)		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)					CAAAACCCCTTTCCCTCACTG	0.657000													24	65					0	0	0.005443	0	0
TPCN2	219931	broad.mit.edu	37	11	68835056	68835056	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr11:68835056C>T	ENST00000294309.3	+	8	913	c.812C>T	c.(811-813)aCg>aTg	p.T271M	TPCN2_ENST00000542467.1_Missense_Mutation_p.T271M|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	271					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	p.T271M(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGCTGACCACGGCCAACAAC	0.642000													43	44					0	0	0.010771	0	0
PTPRB	5787	broad.mit.edu	37	12	71016249	71016249	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr12:71016249G>T	ENST00000334414.6	-	3	673	c.629C>A	c.(628-630)cCc>cAc	p.P210H	PTPRB_ENST00000551525.1_Missense_Mutation_p.P209H|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Missense_Mutation_p.P210H	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 3.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P210H(1)		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)			GTGCAGATTGGGATGCTGCCT	0.493000													29	78					1.08312e-15	1.33654e-15	0.009535	1	0
KIAA0196	9897	broad.mit.edu	37	8	126091004	126091004	+	Silent	SNP	C	C	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr8:126091004C>G	ENST00000318410.7	-	6	1036	c.687G>C	c.(685-687)ctG>ctC	p.L229L	KIAA0196_ENST00000517845.1_Silent_p.L81L	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	229				L -> R (in Ref. 4; AAH26951).	cell death	WASH complex		p.L229L(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CATCAGATCTCAGTCGACCAA	0.403000													74	59					0	0	0.014410	0	0
FANK1	92565	broad.mit.edu	37	10	127697946	127697946	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr10:127697946T>C	ENST00000368695.1	+	11	1081	c.959T>C	c.(958-960)gTa>gCa	p.V320A	FANK1_ENST00000368693.1_Missense_Mutation_p.V326A|FANK1_ENST00000477963.1_3'UTR	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	326						cytoplasm|nucleus		p.V326A(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				ATCTAGAGTGTAGTCTCCTTA	0.403000													20	64					0	0	0.012319	0	0
SLC39A9	55334	broad.mit.edu	37	14	69908952	69908952	+	Silent	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr14:69908952G>A	ENST00000336643.5	+	3	1050	c.372G>A	c.(370-372)caG>caA	p.Q124Q	SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000031146.4_Intron|SLC39A9_ENST00000557046.1_Silent_p.Q124Q|SLC39A9_ENST00000556605.1_Silent_p.Q124Q	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	124					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.Q124Q(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		TGGTGGACCAGATTGGTAACT	0.478000													48	223					0	0	0.014410	0	0
PRKCA	5578	broad.mit.edu	37	17	64299089	64299089	+	Silent	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr17:64299089C>A	ENST00000413366.3	+	1	146	c.120C>A	c.(118-120)atC>atA	p.I40I	PRKCA_ENST00000583361.1_3'UTR	NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	40					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	p.I40I(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	ACAAATTCATCGCGCGCTTCT	0.657000													38	53					7.04047e-22	9.25114e-22	0.005524	1	0
UTP20	27340	broad.mit.edu	37	12	101702085	101702085	+	Silent	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr12:101702085G>A	ENST00000261637.4	+	18	2292	c.2118G>A	c.(2116-2118)gtG>gtA	p.V706V		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	706					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	p.V706V(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GACATGATGTGGTACAGACTG	0.388000													47	100					0	0	0.014410	0	0
MYCL	4610	broad.mit.edu	37	1	40363447	40363447	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:40363447C>A	ENST00000397332.2	-	3	906	c.782G>T	c.(781-783)aGg>aTg	p.R261M	MYCL_ENST00000372816.2_Missense_Mutation_p.R231M|RP1-118J21.5_ENST00000418255.1_RNA	NM_001033081.2|NM_001033082.2	NP_001028253.1|NP_001028254.2			v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog									p.R261M(1)									TTGGGGACCCCTCTCTGAAGC	0.522000													12	210					1.05317e-09	1.19962e-09	0.002450	1	0
PNLIPRP1	5407	broad.mit.edu	37	10	118360714	118360714	+	Splice_Site	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr10:118360714G>T	ENST00000528052.1	+	10	1134		c.e10+1		PNLIPRP1_ENST00000358834.4_Splice_Site|PNLIPRP1_ENST00000534537.1_Splice_Site			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1						lipid metabolic process		calcium ion binding|triglyceride lipase activity	p.?(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AATTTCGCTCGTAAGTTGCAC	0.418000													11	52					9.31168e-06	9.93074e-06	0.001855	1	0
PCDH15	65217	broad.mit.edu	37	10	55700697	55700697	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr10:55700697A>G	ENST00000373965.2	-	25	3576	c.3182T>C	c.(3181-3183)aTg>aCg	p.M1061T	PCDH15_ENST00000395445.1_Missense_Mutation_p.M1061T|PCDH15_ENST00000395433.1_Missense_Mutation_p.M1032T|PCDH15_ENST00000395438.1_Missense_Mutation_p.M1054T|PCDH15_ENST00000320301.6_Missense_Mutation_p.M1054T|PCDH15_ENST00000395432.2_Missense_Mutation_p.M1017T|PCDH15_ENST00000409834.1_Missense_Mutation_p.M665T|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.M1059T|PCDH15_ENST00000395430.1_Missense_Mutation_p.M1054T|PCDH15_ENST00000361849.3_Missense_Mutation_p.M1054T|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.M983T|PCDH15_ENST00000395440.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1054	Cadherin 10.				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	p.M1054T(2)|p.M1059T(2)		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)				TACACCAACCATGGTCCCTTT	0.363000										HNSCC(58;0.16)			7	46					0	0	0.004482	0	0
CRB1	23418	broad.mit.edu	37	1	197446916	197446916	+	Silent	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:197446916G>A	ENST00000367400.3	+	12	4263	c.4128G>A	c.(4126-4128)caG>caA	p.Q1376Q	CRB1_ENST00000544212.1_Silent_p.Q857Q|CRB1_ENST00000367399.2_Silent_p.Q1264Q|CRB1_ENST00000535699.1_Silent_p.Q1352Q|CRB1_ENST00000538660.1_Silent_p.Q840Q	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1376					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.Q1376Q(1)		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						GGGCAACTCAGGGAACCTACA	0.517000													100	18					0	0	0.014410	0	0
RBM10	8241	broad.mit.edu	37	X	47044477	47044477	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chrX:47044477G>T	ENST00000377604.3	+	18	2716	c.1974G>T	c.(1972-1974)tgG>tgT	p.W658C	RBM10_ENST00000345781.6_Missense_Mutation_p.W581C|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000329236.7_Missense_Mutation_p.W580C	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	658					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	p.W658Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TGGAACGCTGGGCCCGCAGTC	0.547000													6	4					2.0095e-06	2.16105e-06	0.001984	1	0
KIAA0408	9729	broad.mit.edu	37	6	127768137	127768137	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr6:127768137C>T	ENST00000483725.3	-	5	1663	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	443							protein binding	p.D443N(1)		endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TTAAATTCATCAGTCTTTGCT	0.423000													61	44					0	0	0.014410	0	0
ATP5B	506	broad.mit.edu	37	12	57037225	57037225	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr12:57037225C>T	ENST00000262030.3	-	5	804	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	ATP5B_ENST00000552919.1_Missense_Mutation_p.E252K	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	252					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	p.E252K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACACCAGATTCAATCATTTCA	0.428000													62	147					0	0	0.014410	0	0
TRAV26-1	28657	broad.mit.edu	37	14	22592238	22592238	+	RNA	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr14:22592238G>A	ENST00000390455.3	+	0	532																											TGCATCGTCAGAGTCGCACAC	0.527000													8	40					0	0	0.004482	0	0
ZNF335	63925	broad.mit.edu	37	20	44578472	44578472	+	Silent	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr20:44578472C>T	ENST00000322927.2	-	24	3736	c.3636G>A	c.(3634-3636)caG>caA	p.Q1212Q	ZNF335_ENST00000426788.1_Silent_p.Q1057Q	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1212	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q1212Q(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GCTGTACGGTCTGGCCATCTG	0.577000													25	44					0	0	0.008361	0	0
C4orf3	401152	broad.mit.edu	37	4	120221638	120221638	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr4:120221638C>T	ENST00000399075.4	-	2	451	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	C4orf3_ENST00000504110.1_Missense_Mutation_p.R18Q	NM_001170330.1	NP_001163801.1	Q8WVX3	CD003_HUMAN	chromosome 4 open reading frame 3	18						integral to membrane		p.R151P(1)|p.R151Q(1)		breast(1)|large_intestine(1)|lung(4)	6						GCTAAAGCCTCGCCGCTCCCG	0.567000													47	35					0	0	0.014410	0	0
EPN2	22905	broad.mit.edu	37	17	19232056	19232056	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr17:19232056G>T	ENST00000314728.5	+	8	1664	c.1180G>T	c.(1180-1182)Ggg>Tgg	p.G394W	EPN2_ENST00000395626.1_Missense_Mutation_p.G394W|EPN2_ENST00000395618.3_Missense_Mutation_p.G109W|EPN2_ENST00000347697.2_Missense_Mutation_p.G337W|EPN2_ENST00000395620.2_Missense_Mutation_p.G337W|EPN2_ENST00000571254.1_Missense_Mutation_p.G330W|EPN2_ENST00000575595.1_Missense_Mutation_p.G102W	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	394	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding	p.G394W(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TGACCCATGGGGGGTGCCCAC	0.607000													18	57					9.86323e-18	1.25325e-17	0.003954	1	0
MXRA5	25878	broad.mit.edu	37	X	3242083	3242083	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chrX:3242083G>A	ENST00000217939.6	-	5	1797	c.1643C>T	c.(1642-1644)tCt>tTt	p.S548F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	548	Ig-like C2-type 1.					extracellular region		p.S548F(2)		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)				GCCTGAGTCAGATGGCTCCAT	0.542000													6	8					0	0	0.004482	0	0
CTNNA3	29119	broad.mit.edu	37	10	68280485	68280485	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr10:68280485G>A	ENST00000433211.1	-	11	1595	c.1421C>T	c.(1420-1422)gCg>gTg	p.A474V	CTNNA3_ENST00000373744.4_Missense_Mutation_p.A474V	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	474					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.A474V(2)		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						GTTTTTGACCGCTTGACTTTT	0.378000													61	85					0	0	0.014410	0	0
S100PBP	64766	broad.mit.edu	37	1	33292039	33292039	+	Silent	SNP	C	C	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:33292039C>G	ENST00000373475.5	+	3	593	c.339C>G	c.(337-339)ctC>ctG	p.L113L	S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000398243.3_Silent_p.L113L|S100PBP_ENST00000373476.1_Silent_p.L113L	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	113						nucleus	calcium-dependent protein binding	p.L113L(1)		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)				CTCCTGACCTCTTCAAACTAC	0.418000													37	39					0	0	0.006999	0	0
COL6A2	1292	broad.mit.edu	37	21	47545874	47545874	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr21:47545874C>G	ENST00000300527.4	+	26	2249	c.2145C>G	c.(2143-2145)atC>atG	p.I715M	COL6A2_ENST00000409416.1_Missense_Mutation_p.I715M|COL6A2_ENST00000397763.1_Missense_Mutation_p.I715M|COL6A2_ENST00000310645.5_Missense_Mutation_p.I715M|COL6A2_ENST00000357838.4_Missense_Mutation_p.I715M	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	715	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	p.I715M(3)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACCGCCTCATCAAGGAGAGCC	0.632000													19	15					0	0	0.012319	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100451895	100451895	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr12:100451895G>A	ENST00000279907.7	-	14	3372	c.3160C>T	c.(3160-3162)Cca>Tca	p.P1054S	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.P704S	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1054								p.P1054S(1)		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						GCTGCTTCTGGAAGCAAATCT	0.353000													68	106					0	0	0.014410	0	0
TNK2	10188	broad.mit.edu	37	3	195610174	195610174	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr3:195610174C>A	ENST00000333602.6	-	5	1080	c.463G>T	c.(463-465)Gtg>Ttg	p.V155L	TNK2_ENST00000392400.1_Missense_Mutation_p.V155L|TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000428187.1_Missense_Mutation_p.V187L|TNK2_ENST00000316664.3_Missense_Mutation_p.V155L|TNK2_ENST00000381916.2_Missense_Mutation_p.V218L	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	155	Protein kinase.				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.V155L(2)|p.V218L(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TTCACAGCCACACTCACCTGC	0.607000													43	12					9.14704e-12	1.07366e-11	0.008740	1	0
TXNDC16	57544	broad.mit.edu	37	14	52936818	52936818	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr14:52936818T>A	ENST00000281741.4	-	16	1926	c.1555A>T	c.(1555-1557)Aaa>Taa	p.K519*	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	519					cell redox homeostasis	extracellular region		p.K519*(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					ATGAGGTCTTTATATAATTCC	0.333000													32	37					0	0	0.003755	0	0
C3P1	388503	broad.mit.edu	37	19	10169634	10169634	+	RNA	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr19:10169634G>T	ENST00000495140.1	+	0	2034																		p.S330I(1)		endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						AGCTTTGCCAGCCCTAGTGGG	0.527000													46	35					3.39706e-21	4.43345e-21	0.014410	1	0
SEPT1	1731	broad.mit.edu	37	16	30391340	30391340	+	Silent	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr16:30391340C>T	ENST00000321367.3	-	8	759	c.714G>A	c.(712-714)ttG>ttA	p.L238L	SEPT1_ENST00000605106.1_Silent_p.L196L|SEPT1_ENST00000571393.1_Silent_p.L191L	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	septin 1	191					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding	p.L191L(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			CCTCTTCCTTCAACTGATCCC	0.473000													43	74					0	0	0.011902	0	0
MYH1	4619	broad.mit.edu	37	17	10419608	10419608	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr17:10419608C>A	ENST00000226207.5	-	4	350	c.256G>T	c.(256-258)Gac>Tac	p.D86Y	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	86	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.D86Y(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						TCGATCTTGTCATATTTGGGA	0.473000													84	79					9.07295e-45	1.30339e-44	0.014410	1	0
HRNR	388697	broad.mit.edu	37	1	152187998	152187998	+	Nonsense_Mutation	SNP	G	G	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:152187998G>C	ENST00000368801.2	-	3	6182	c.6107C>G	c.(6106-6108)tCa>tGa	p.S2036*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2036					keratinization		calcium ion binding|protein binding	p.S2036*(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)			AGACTGACCTGAGCTAGCTCC	0.572000													52	1150					0	0	0.007291	0	0
TRIP12	9320	broad.mit.edu	37	2	230675910	230675910	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr2:230675910G>A	ENST00000283943.5	-	13	2031	c.1853C>T	c.(1852-1854)tCa>tTa	p.S618L	TRIP12_ENST00000389044.4_Missense_Mutation_p.S666L|TRIP12_ENST00000389045.3_Missense_Mutation_p.S321L|TRIP12_ENST00000543084.1_Intron	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	618					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	p.S618L(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GCTTTCTACTGACTTTTTATC	0.343000													17	54					0	0	0.008871	0	0
MYO1H	283446	broad.mit.edu	37	12	109853404	109853404	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr12:109853404G>T	ENST00000310903.5	+	15	1634	c.1528G>T	c.(1528-1530)Gag>Tag	p.E510*	MYO1H_ENST00000431443.2_Nonsense_Mutation_p.E520*			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity	p.E510*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CTATGCAGGAGAGGTCACATA	0.552000													7	10					0.00307968	0.00317026	0.003080	1	0
ASXL3	80816	broad.mit.edu	37	18	31325019	31325019	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr18:31325019C>A	ENST00000269197.5	+	12	5207	c.5207C>A	c.(5206-5208)tCa>tAa	p.S1736*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1736					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.S1736*(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCAGGGAGCTCAGGCTGTCGT	0.532000													22	18					1.85244e-09	2.1038e-09	0.003330	1	0
NBEAP1	606	broad.mit.edu	37	15	20874802	20874802	+	RNA	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr15:20874802C>T	ENST00000556948.1	-	0	446																											CATACCTAATCCTTTAGGTGT	0.343000													11	38					0	0	0.010729	0	0
TEX15	56154	broad.mit.edu	37	8	30705190	30705190	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr8:30705190T>A	ENST00000256246.2	-	1	1418	c.1344A>T	c.(1342-1344)gaA>gaT	p.E448D		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	448								p.E448D(1)		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)		GACCCCTATCTTCAACATAAG	0.328000													99	85					0	0	0.014410	0	0
NAIP	4671	broad.mit.edu	37	5	70308281	70308281	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr5:70308281C>A	ENST00000517649.1	-	4	752	c.462G>T	c.(460-462)atG>atT	p.M154I	NAIP_ENST00000194097.4_Missense_Mutation_p.M154I|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.M154I	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	154					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding	p.M154I(1)		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)		CTTGGTACCTCATTTTACCTC	0.473000													23	402					2.98393e-07	3.24524e-07	0.002780	1	0
SYTL1	84958	broad.mit.edu	37	1	27679907	27679907	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:27679907G>A	ENST00000543823.1	+	13	1939	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Missense_Mutation_p.E481K			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	493	C2 2.				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding	p.E493K(1)|p.E481K(1)		NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGCTTGTGCCGAGCTCTCCCT	0.657000													7	24					0	0	0.003080	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401460	77401460	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr16:77401460C>A	ENST00000282849.5	-	4	1074	c.656G>T	c.(655-657)gGc>gTc	p.G219V	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	219					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G219V(1)|p.G216_G219del(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CCGGCCAGAGCCGGGGTAGCC	0.547000													50	40					5.13769e-22	6.79728e-22	0.014410	1	0
F13B	2165	broad.mit.edu	37	1	197021763	197021763	+	Splice_Site	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:197021763C>T	ENST00000367412.1	-	9	1599		c.e9+1			NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide						blood coagulation	extracellular region		p.?(1)		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						TATTATTTTACCTTTTCTAGT	0.313000													13	39					0	0	0.013537	0	0
EDC4	23644	broad.mit.edu	37	16	67911274	67911274	+	Silent	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr16:67911274C>T	ENST00000358933.5	+	5	845	c.606C>T	c.(604-606)ttC>ttT	p.F202F	EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	202					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.F202F(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GCAACCTGTTCGTGTGGCGCT	0.587000													59	36					0	0	0.014410	0	0
GZMB	3002	broad.mit.edu	37	14	25100341	25100341	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr14:25100341G>A	ENST00000216341.4	-	5	786	c.680C>T	c.(679-681)cCa>cTa	p.P227L	GZMB_ENST00000382540.1_Missense_Mutation_p.P182L|RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382542.1_Missense_Mutation_p.P261L|GZMB_ENST00000415355.3_Missense_Mutation_p.P215L			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	227	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity	p.P227L(1)|p.P261L(1)		endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		GCAGGCTCGTGGAGGCATGCC	0.498000													37	103					0	0	0.006230	0	0
TTC40	54777	broad.mit.edu	37	10	134628115	134628115	+	Splice_Site	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr10:134628115G>A	ENST00000368586.5	-	53	7351	c.7249_splice	c.e53-1	p.F2417_splice	TTC40_ENST00000263170.5_Splice_Site_p.F578_splice	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	578								p.F2417F(1)|p.F578F(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GGTCCACGACGACTGGGTCCC	0.662000													4	3					0	0	0.000602	0	0
BICC1	80114	broad.mit.edu	37	10	60588570	60588570	+	Silent	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr10:60588570C>T	ENST00000373886.3	+	21	2848	c.2844C>T	c.(2842-2844)acC>acT	p.T948T		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	948					multicellular organismal development		RNA binding	p.T948T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ATGCACGCACCTCTTTCCTGG	0.468000													16	48					0	0	0.008871	0	0
ALX4	60529	broad.mit.edu	37	11	44286612	44286612	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr11:44286612G>A	ENST00000329255.3	-	4	1131	c.1028C>T	c.(1027-1029)gCc>gTc	p.A343V		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	343					hair follicle development			p.A343V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GACGCTGCTGGCCCCAGAGCC	0.692000													7	23					0	0	0.004482	0	0
EDDM3B	64184	broad.mit.edu	37	14	21238647	21238647	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr14:21238647G>T	ENST00000326783.3	+	2	436	c.338G>T	c.(337-339)aGc>aTc	p.S113I		NM_022360.4	NP_071755.1	P56851	EP3B_HUMAN	epididymal protein 3B	113					spermatid development	extracellular region		p.S113I(1)		central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						TCCAAAAATAGCTACACAGAG	0.438000													49	53					1.61004e-24	2.16736e-24	0.014410	1	0
CTCF	10664	broad.mit.edu	37	16	67645894	67645894	+	Silent	SNP	G	G	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr16:67645894G>C	ENST00000264010.4	+	4	1266	c.822G>C	c.(820-822)acG>acC	p.T274T	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	274					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.T274T(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GCAGTTACACGTGTCCACGGC	0.438000													10	106					0	0	0.010729	0	0
UQCC1	55245	broad.mit.edu	37	20	33891776	33891776	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr20:33891776T>G	ENST00000374385.5	-	10	1039	c.862A>C	c.(862-864)Aag>Cag	p.K288Q	UQCC_ENST00000374384.2_Missense_Mutation_p.K262Q|UQCC_ENST00000540457.1_Missense_Mutation_p.K133Q|UQCC_ENST00000359226.2_Missense_Mutation_p.K208Q|UQCC_ENST00000349714.5_Missense_Mutation_p.K261Q|UQCC_ENST00000407996.2_Missense_Mutation_p.K151Q|UQCC_ENST00000397556.3_Missense_Mutation_p.K189Q|UQCC_ENST00000374377.5_Missense_Mutation_p.K176Q|UQCC_ENST00000374380.2_Missense_Mutation_p.K220Q	NM_018244.4	NP_060714.3	Q9NVA1	UQCC_HUMAN		288						cytoplasmic membrane-bounded vesicle		p.K288Q(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GAATGGGGCTTCAGGATGCTC	0.602000											OREG0025888	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	84	121					0	0	0.014410	0	0
SLC6A17	388662	broad.mit.edu	37	1	110709673	110709673	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:110709673C>T	ENST00000331565.4	+	2	607	c.122C>T	c.(121-123)gCt>gTt	p.A41V	RP5-1028L10.1_ENST00000443008.1_RNA|RP5-1028L10.1_ENST00000430098.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	41					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	p.A41V(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CTGAATGTGGCTGGTGAGGCA	0.612000													8	5					0	0	0.013537	0	0
NRAP	4892	broad.mit.edu	37	10	115422452	115422452	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr10:115422452C>G	ENST00000369358.4	-	3	485	c.241G>C	c.(241-243)Gag>Cag	p.E81Q	NRAP_ENST00000359988.3_Missense_Mutation_p.E81Q|NRAP_ENST00000360478.3_Missense_Mutation_p.E81Q|NRAP_ENST00000369360.3_Missense_Mutation_p.E81Q			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	81						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.E81Q(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTGATGGCCTCTGGAAATGTC	0.363000													44	76					0	0	0.014410	0	0
LOXL3	84695	broad.mit.edu	37	2	74763216	74763216	+	Silent	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr2:74763216C>T	ENST00000264094.3	-	7	1226	c.1155G>A	c.(1153-1155)aaG>aaA	p.K385K	LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409986.1_Silent_p.K240K|LOXL3_ENST00000409549.1_Silent_p.K385K|LOXL3_ENST00000393937.2_Silent_p.K240K	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	385	SRCR 3.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	p.K385K(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TGTGGGGGCACTTCCAGAGGG	0.552000													69	61					0	0	0.014410	0	0
ZNF224	7767	broad.mit.edu	37	19	44605073	44605073	+	Silent	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr19:44605073C>T	ENST00000336976.6	+	4	389	c.135C>T	c.(133-135)ctC>ctT	p.L45L		NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	45	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	p.L45L(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GGAACCTGCTCTCAGTGGGTG	0.517000													35	117					0	0	0.003271	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178555091	178555091	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr5:178555091G>A	ENST00000251582.7	-	17	2587	c.2486C>T	c.(2485-2487)tCa>tTa	p.S829L		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	829	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S829L(1)		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)		GTACGTCAGTGAGACCCGGGT	0.572000													32	38					0	0	0.009535	0	0
DEPDC4	120863	broad.mit.edu	37	12	100660779	100660779	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr12:100660779G>A	ENST00000416321.1	-	1	78	c.76C>T	c.(76-78)Cag>Tag	p.Q26*		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	26					intracellular signal transduction			p.Q26*(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						AGCTCGTTCTGACTGACAAGT	0.612000													60	111					0	0	0.014410	0	0
RBM10	8241	broad.mit.edu	37	X	47044476	47044476	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chrX:47044476G>A	ENST00000377604.3	+	18	2715	c.1973G>A	c.(1972-1974)tGg>tAg	p.W658*	RBM10_ENST00000345781.6_Nonsense_Mutation_p.W581*|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000329236.7_Nonsense_Mutation_p.W580*	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	658					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	p.W658Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ATGGAACGCTGGGCCCGCAGT	0.547000													6	4					0	0	0.001984	0	0
ASPM	259266	broad.mit.edu	37	1	197101454	197101454	+	Silent	SNP	C	C	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:197101454C>G	ENST00000367409.4	-	7	2704	c.2448G>C	c.(2446-2448)ctG>ctC	p.L816L	ASPM_ENST00000294732.7_Silent_p.L816L|ASPM_ENST00000367408.1_Silent_p.L66L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	816					mitosis	cytoplasm|nucleus	calmodulin binding	p.L816L(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGTAGGACAACAGCCAATTCA	0.308000													26	50					0	0	0.006320	0	0
NRK	203447	broad.mit.edu	37	X	105167242	105167242	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chrX:105167242G>A	ENST00000428173.2	+	18	3049	c.2746G>A	c.(2746-2748)Gaa>Aaa	p.E916K	NRK_ENST00000243300.9_Missense_Mutation_p.E915K			Q7Z2Y5	NRK_HUMAN	Nik related kinase	915							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.E916K(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TCAGCCACCTGAAGAGGATGG	0.423000										HNSCC(51;0.14)			17	17					0	0	0.006122	0	0
NCOA3	8202	broad.mit.edu	37	20	46254147	46254147	+	Silent	SNP	T	T	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr20:46254147T>C	ENST00000372004.3	+	5	495	c.279T>C	c.(277-279)gaT>gaC	p.D93D	NCOA3_ENST00000341724.6_Silent_p.D93D|NCOA3_ENST00000371997.3_Silent_p.D93D|NCOA3_ENST00000371998.3_Silent_p.D93D	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	93					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.D93D(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CCAATGATGATGATGTTCAAA	0.368000													24	75					0	0	0.006320	0	0
NXPE1	120400	broad.mit.edu	37	11	114401171	114401171	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr11:114401171C>G	ENST00000536312.1	-	6	1451	c.559G>C	c.(559-561)Gaa>Caa	p.E187Q	NXPE1_ENST00000251921.2_Missense_Mutation_p.E45Q|NXPE1_ENST00000424269.1_Missense_Mutation_p.E187Q					neurexophilin and PC-esterase domain family, member 1									p.E45Q(1)									GACGCCCCTTCACTGGGGTGG	0.502000													30	45					0	0	0.003271	0	0
GJB4	127534	broad.mit.edu	37	1	35227576	35227576	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:35227576C>A	ENST00000339480.1	+	2	1091	c.721C>A	c.(721-723)Cag>Aag	p.Q241K	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	241					cell communication	connexon complex|integral to membrane	gap junction channel activity	p.Q241K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TGTCCTCTCCCAGGGAGGGCA	0.617000													14	15					3.45872e-05	3.66834e-05	0.004007	1	0
B4GALT3	8703	broad.mit.edu	37	1	161141691	161141691	+	Missense_Mutation	SNP	C	C	T	rs111614721	byFrequency	TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:161141691C>T	ENST00000319769.5	-	8	1319	c.1097G>A	c.(1096-1098)cGt>cAt	p.R366H	B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000367998.1_Missense_Mutation_p.R366H	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	366					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity	p.R366H(1)		cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	CATCTCTTGACGGAAGGCTTG	0.607000													16	128					0	0	0.004007	0	0
LY96	23643	broad.mit.edu	37	8	74903787	74903787	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr8:74903787G>T	ENST00000284818.2	+	1	201	c.110G>T	c.(109-111)tGt>tTt	p.C37F	LY96_ENST00000518893.1_Missense_Mutation_p.C37F	NM_015364.4	NP_056179.3	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	37					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	p.C37F(1)		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)			TACACCTACTGTGGTAAGTAA	0.393000													35	186					1.66425e-11	1.94162e-11	0.004878	1	0
CTBP2	1488	broad.mit.edu	37	10	126716241	126716241	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr10:126716241C>T	ENST00000309035.6	-	1	218	c.88G>A	c.(88-90)Gag>Aag	p.E30K	CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000411419.2_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	p.E30K(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CGCAGGGACTCGGCGTTCTCC	0.587000													5	36					0	0	0.001984	0	0
LCT	3938	broad.mit.edu	37	2	136594656	136594656	+	Silent	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr2:136594656G>A	ENST00000264162.2	-	1	94	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	28					carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.F28F(1)		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)		CGGTGGAAATGAAATTTCTAT	0.468000													8	40					0	0	0.004482	0	0
MSTO1	55154	broad.mit.edu	37	1	155717651	155717651	+	Silent	SNP	A	A	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:155717651A>T	ENST00000452804.2	+	7	919	c.858A>T	c.(856-858)atA>atT	p.I286I				Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	259					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex		p.I286I(1)		breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					GGGGAATAATAACTTGGGGCC	0.542000													59	24					0	0	0.014410	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768902	31768902	+	Silent	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr19:31768902C>T	ENST00000240587.4	-	2	2124	c.1797G>A	c.(1795-1797)acG>acA	p.T599T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	599					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T599T(1)|p.T416T(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GCATGGGGGACGTCTGGCTGC	0.552000													69	56					0	0	0.014410	0	0
SON	6651	broad.mit.edu	37	21	34918600	34918600	+	Silent	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr21:34918600C>T	ENST00000356577.4	+	2	634	c.159C>T	c.(157-159)gcC>gcT	p.A53A	SON_ENST00000381679.4_Silent_p.A53A|SON_ENST00000381692.2_Silent_p.A53A|SON_ENST00000300278.4_Silent_p.A53A|SON_ENST00000290239.6_Silent_p.A53A	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	53					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	p.A53A(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CTGCCTCTGCCAGGAGTCTAC	0.438000													54	35					0	0	0.014410	0	0
GALM	130589	broad.mit.edu	37	2	38958889	38958889	+	Silent	SNP	T	T	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr2:38958889T>A	ENST00000272252.5	+	6	1041	c.789T>A	c.(787-789)gcT>gcA	p.A263A	GALM_ENST00000410063.1_Silent_p.A115A	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	263					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding	p.A263A(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				TGCATCATGCTGCAAGCGGGC	0.532000													19	83					0	0	0.007413	0	0
DNMBP	23268	broad.mit.edu	37	10	101646282	101646282	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr10:101646282G>C	ENST00000342239.3	-	13	3556	c.3465C>G	c.(3463-3465)ttC>ttG	p.F1155L	DNMBP_ENST00000472036.1_5'UTR|DNMBP_ENST00000543621.1_Missense_Mutation_p.F377L|DNMBP_ENST00000540316.1_Missense_Mutation_p.F67L|DNMBP_ENST00000324109.4_Missense_Mutation_p.F1131L			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1131	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	p.F1131L(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TACAGTTATAGAAGTCCAGGA	0.517000													104	114					0	0	0.014410	0	0
RGS10	6001	broad.mit.edu	37	10	121275047	121275047	+	Silent	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr10:121275047G>A	ENST00000392865.1	-	4	393	c.331C>T	c.(331-333)Ctg>Ttg	p.L111L	RGS10_ENST00000369101.3_Silent_p.L117L|RGS10_ENST00000469575.1_Intron|RGS10_ENST00000369103.2_Silent_p.L125L	NM_002925.3	NP_002916.1	O43665	RGS10_HUMAN	regulator of G-protein signaling 10	117	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	p.L125L(1)		breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		TGGAACATCAGAGGGTGCGGT	0.507000													31	27					0	0	0.013726	0	0
ZDHHC6	64429	broad.mit.edu	37	10	114192186	114192186	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr10:114192186G>T	ENST00000369405.3	-	9	1462	c.1039C>A	c.(1039-1041)Cct>Act	p.P347T	ZDHHC6_ENST00000482410.1_5'UTR|ZDHHC6_ENST00000369404.3_Missense_Mutation_p.P343T	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	347						integral to membrane	acyltransferase activity|zinc ion binding	p.P347T(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		TGTATTCGAGGCTCTTCGGTG	0.403000													39	133					1.03484e-13	1.24116e-13	0.005524	1	0
ZMYM6	9204	broad.mit.edu	37	1	35477543	35477543	+	Nonsense_Mutation	SNP	G	G	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:35477543G>C	ENST00000357182.4	-	8	1237	c.1010C>G	c.(1009-1011)tCa>tGa	p.S337*	ZMYM6_ENST00000487874.1_Nonsense_Mutation_p.S337*|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Nonsense_Mutation_p.S337*	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	337					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.S337*(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AGTTCCATTTGACATGGCTAG	0.398000													13	55					0	0	0.006122	0	0
PROP1	5626	broad.mit.edu	37	5	177421277	177421277	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr5:177421277G>A	ENST00000308304.2	-	2	480	c.172C>T	c.(172-174)Ccg>Tcg	p.P58S		NM_006261.4	NP_006252.3	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	58					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P58S(1)		endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			CCTCCTTGCGGGGAGAACCTT	0.657000													6	26					0	0	0.001168	0	0
MYO15A	51168	broad.mit.edu	37	17	18023155	18023155	+	Silent	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr17:18023155G>A	ENST00000205890.5	+	2	1379	c.1041G>A	c.(1039-1041)gcG>gcA	p.A347A		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	347	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	p.A347A(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ATCCCTATGCGCCGTACGACG	0.597000													10	74					0	0	0.006214	0	0
MPP2	4355	broad.mit.edu	37	17	41958159	41958159	+	Silent	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr17:41958159C>A	ENST00000269095.4	-	10	1354	c.1050G>T	c.(1048-1050)cgG>cgT	p.R350R	MPP2_ENST00000536246.1_Silent_p.R339R|MPP2_ENST00000523501.1_Silent_p.R339R|MPP2_ENST00000520305.1_Silent_p.R211R|MPP2_ENST00000518766.1_Silent_p.R395R|MPP2_ENST00000461854.1_Silent_p.R374R|MPP2_ENST00000377184.3_Silent_p.R367R	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	374					signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	p.R350R(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CCAGGGTTTTCCGGCGGAACG	0.612000											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	56					3.05275e-18	3.93079e-18	0.013114	1	0
SLC1A6	6511	broad.mit.edu	37	19	15083694	15083694	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr19:15083694A>G	ENST00000598504.1	-	4	1388	c.29T>C	c.(28-30)cTg>cCg	p.L10P	SLC1A6_ENST00000221742.3_Missense_Mutation_p.L10P|SLC1A6_ENST00000430939.2_Silent_p.P14P|SLC1A6_ENST00000600144.1_Missense_Mutation_p.L10P|SLC1A6_ENST00000544886.2_Missense_Mutation_p.L10P	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	10					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.L10P(1)		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)	GCTCTCCCGCAGGAACAGGCT	0.687000													2	2					0	0	0.009096	0	0
SH3TC1	54436	broad.mit.edu	37	4	8220037	8220037	+	Silent	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr4:8220037C>T	ENST00000539824.1	+	8	1025	c.651C>T	c.(649-651)gcC>gcT	p.A217A	SH3TC1_ENST00000245105.3_Silent_p.A293A			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	293							binding	p.A293A(1)		NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TCGACGATGCCATGGGTGGCC	0.577000													7	41					0	0	0.001984	0	0
OR11H6	122748	broad.mit.edu	37	14	20692096	20692096	+	Silent	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr14:20692096C>A	ENST00000315519.2	+	1	306	c.228C>A	c.(226-228)ccC>ccA	p.P76P		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P76P(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TCCACACACCCATGTACATCC	0.463000													31	101					6.38683e-12	7.51966e-12	0.008361	1	0
CERS6	253782	broad.mit.edu	37	2	169547564	169547564	+	Silent	SNP	G	G	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr2:169547564G>C	ENST00000305747.6	+	5	1073	c.486G>C	c.(484-486)acG>acC	p.T162T	CERS6_ENST00000392687.4_Silent_p.T162T	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	162	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	p.T162T(1)									TGTGGAATACGAGGCATTGCT	0.373000													25	179					0	0	0.005443	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43846211	43846211	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr12:43846211C>A	ENST00000389420.3	-	14	1944	c.1945G>T	c.(1945-1947)Ggc>Tgc	p.G649C	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G649C	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	649	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding	p.G649C(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)		TCCTTTGTGCCAACTGTAAAA	0.323000													16	66					8.28177e-16	1.02524e-15	0.007413	1	0
PJA2	9867	broad.mit.edu	37	5	108704449	108704449	+	Splice_Site	SNP	T	T	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr5:108704449T>A	ENST00000361189.2	-	5	1523		c.e5-2		PJA2_ENST00000361557.3_Splice_Site	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase						long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding	p.?(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		CATTCAGAACTGCAAATCAGA	0.388000													11	58					0	0	0.002450	0	0
AIF1L	83543	broad.mit.edu	37	9	133995667	133995667	+	Silent	SNP	A	A	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr9:133995667A>T	ENST00000372309.3	+	7	643	c.489A>T	c.(487-489)ccA>ccT	p.P163P	AIF1L_ENST00000247291.3_Silent_p.P137P|AIF1L_ENST00000372297.2_3'UTR|AIF1L_ENST00000372300.1_3'UTR|AIF1L_ENST00000372302.1_Silent_p.P129P|AIF1L_ENST00000372312.3_Silent_p.P142P|AIF1L_ENST00000372298.1_Intron|AIF1L_ENST00000372301.2_Silent_p.P81P	NM_001185095.1	NP_001172024.1	Q9BQI0	AIF1L_HUMAN	allograft inflammatory factor 1-like	137						actin cytoskeleton|cytoplasm|focal adhesion|ruffle membrane	actin filament binding|calcium ion binding	p.P137P(1)|p.P163P(1)		lung(2)	2						GCCCCAAGCCAGTTGGCCCCC	0.532000													25	17					0	0	0.009535	0	0
CTAGE5	4253	broad.mit.edu	37	14	39796151	39796151	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr14:39796151C>T	ENST00000553728.1	+	24	3574	c.3361C>T	c.(3361-3363)Cat>Tat	p.H1121Y	CTAGE5_ENST00000280083.3_Missense_Mutation_p.H586Y|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.H557Y|CTAGE5_ENST00000341502.5_Missense_Mutation_p.H586Y|CTAGE5_ENST00000396165.4_Missense_Mutation_p.H557Y|CTAGE5_ENST00000348007.3_Missense_Mutation_p.H543Y|CTAGE5_ENST00000557038.1_Missense_Mutation_p.H506Y|CTAGE5_ENST00000341749.3_Missense_Mutation_p.H574Y|CTAGE5_ENST00000396158.2_Missense_Mutation_p.H591Y|CTAGE5_ENST00000553352.1_Missense_Mutation_p.H557Y|CTAGE5_ENST00000556148.1_Missense_Mutation_p.H511Y														p.H586Y(1)									AACCGATCCTCATAGGGCTCC	0.463000													39	57					0	0	0.006230	0	0
SF3B3	23450	broad.mit.edu	37	16	70573039	70573039	+	Silent	SNP	T	T	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr16:70573039T>A	ENST00000302516.5	+	8	1207	c.996T>A	c.(994-996)acT>acA	p.T332T		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	332					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	p.T332K(1)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				ATTTTGATACTGTACCCGTTG	0.418000													20	166					0	0	0.005443	0	0
GLOD5	392465	broad.mit.edu	37	X	48629475	48629475	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chrX:48629475G>C	ENST00000303227.6	+	3	375	c.334G>C	c.(334-336)Gag>Cag	p.E112Q	GLOD5_ENST00000470676.1_3'UTR	NM_001080489.2	NP_001073958.2			glyoxalase domain containing 5									p.E164Q(1)		endometrium(1)|lung(2)	3						GGTGCCTTTGGAGGAAATGAT	0.488000													11	8					0	0	0.001855	0	0
LRP2	4036	broad.mit.edu	37	2	170151164	170151164	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr2:170151164G>C	ENST00000263816.3	-	5	769	c.484C>G	c.(484-486)Cag>Gag	p.Q162E	LRP2_ENST00000443831.1_Missense_Mutation_p.Q162E	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	162	LDL-receptor class A 4.				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	p.Q162E(1)		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)	TCACACTTCTGACTGGTGTTA	0.393000													25	84					0	0	0.008361	0	0
OR52E4	390081	broad.mit.edu	37	11	5905694	5905694	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr11:5905694C>G	ENST00000316987.2	+	1	194	c.172C>G	c.(172-174)Cac>Gac	p.H58D		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H58D(1)		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)		ACATAGTCTACACCAGCCCAT	0.418000													60	105					0	0	0.014410	0	0
SF3B3	23450	broad.mit.edu	37	16	70573038	70573038	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr16:70573038C>A	ENST00000302516.5	+	8	1206	c.995C>A	c.(994-996)aCt>aAt	p.T332N		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	332					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	p.T332K(1)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TATTTTGATACTGTACCCGTT	0.423000													20	166					7.76418e-22	1.01674e-21	0.005443	1	0
SNTG1	54212	broad.mit.edu	37	8	51449322	51449322	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr8:51449322C>T	ENST00000522124.1	+	11	1295	c.634C>T	c.(634-636)Ctt>Ttt	p.L212F	SNTG1_ENST00000518864.1_Missense_Mutation_p.L212F|SNTG1_ENST00000276467.5_Missense_Mutation_p.L212F|SNTG1_ENST00000517473.1_Missense_Mutation_p.L212F	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	212					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.L212F(2)		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)				GATCCCTCTACTTCATTCGCG	0.483000													146	121					0	0	0.014410	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149216087	149216087	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr5:149216087G>T	ENST00000309241.5	+	8	2101	c.2069G>T	c.(2068-2070)gGa>gTa	p.G690V	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.G651V|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.G690V|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.G626V	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	690					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	p.G690V(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGTTCCTTTGGAGACCATGAC	0.627000													40	49					4.0181e-32	5.60496e-32	0.014410	1	0
APOBEC3F	200316	broad.mit.edu	37	22	39441197	39441197	+	Silent	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr22:39441197G>A	ENST00000308521.5	+	3	780	c.423G>A	c.(421-423)ggG>ggA	p.G141G	APOBEC3F_ENST00000491387.1_3'UTR|APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	146					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	p.G141G(2)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					GTCAGGCAGGGGCCCGCGTGA	0.592000													3	58					0	0	0.003080	0	0
OR2T4	127074	broad.mit.edu	37	1	248525769	248525769	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:248525769C>T	ENST00000366475.1	+	1	887	c.887C>T	c.(886-888)tCc>tTc	p.S296F		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S296F(1)		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)			CTCCCCAGCTCCTACCACACC	0.517000													81	198					0	0	0.014410	0	0
PRDM10	56980	broad.mit.edu	37	11	129814846	129814846	+	Silent	SNP	C	C	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr11:129814846C>G	ENST00000358825.5	-	6	813	c.582G>C	c.(580-582)ccG>ccC	p.P194P	PRDM10_ENST00000304538.6_Silent_p.P108P|PRDM10_ENST00000360871.3_Silent_p.P194P|PRDM10_ENST00000528746.1_Silent_p.P168P|PRDM10_ENST00000526082.1_Silent_p.P108P|PRDM10_ENST00000423662.2_Silent_p.P108P	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P194P(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GGTTGGGGATCGGGTGCAAGG	0.607000													29	33					0	0	0.007291	0	0
USH2A	7399	broad.mit.edu	37	1	215802231	215802231	+	Silent	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:215802231G>A	ENST00000366943.2	-	72	15902	c.15516C>T	c.(15514-15516)ctC>ctT	p.L5172L	USH2A_ENST00000307340.3_Silent_p.L5148L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5148					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.L5148L(1)		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)		GAATGTCCATGAGCTGGCTGA	0.542000										HNSCC(13;0.011)			41	106					0	0	0.014410	0	0
GABRA4	2557	broad.mit.edu	37	4	46981053	46981053	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr4:46981053C>T	ENST00000264318.3	-	3	1250	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	90					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.E90K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCTACCATTTCAACATCAGAA	0.323000													11	20					0	0	0.002450	0	0
TMED3	23423	broad.mit.edu	37	15	79606204	79606204	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr15:79606204G>T	ENST00000299705.5	+	2	462	c.274G>T	c.(274-276)Gct>Tct	p.A92S	TMED3_ENST00000424155.2_Missense_Mutation_p.A92S|TMED3_ENST00000536821.1_Missense_Mutation_p.A92S	NM_007364.2	NP_031390.1	Q9Y3Q3	TMED3_HUMAN	transmembrane emp24 protein transport domain containing 3	92	GOLD.				protein transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane		p.A92S(1)		large_intestine(3)|lung(4)|ovary(1)|skin(1)	9						CACGTACCGGGCTGAAGTCAA	0.507000													60	104					7.82978e-24	1.04669e-23	0.014410	1	0
DNAH9	1770	broad.mit.edu	37	17	11725838	11725838	+	Silent	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr17:11725838C>A	ENST00000262442.3	+	47	9002	c.8934C>A	c.(8932-8934)atC>atA	p.I2978I	DNAH9_ENST00000454412.2_Silent_p.I2978I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2978	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I2978I(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)		GCACAGCCATCCACTGGTTCC	0.537000													84	47					4.82855e-46	6.96252e-46	0.014410	1	0
PLCG1	5335	broad.mit.edu	37	20	39794177	39794177	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr20:39794177G>A	ENST00000373272.2	+	15	2002	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K	PLCG1_ENST00000244007.3_Missense_Mutation_p.E533K|PLCG1_ENST00000373271.1_Missense_Mutation_p.E533K	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	533					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	p.E533K(1)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CGAGGATGAGGAGGAGCCCAA	0.577000													14	36					0	0	0.003163	0	0
MSL1	339287	broad.mit.edu	37	17	38287837	38287837	+	Splice_Site	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr17:38287837G>A	ENST00000398532.3	+	4	1738	c.1423_splice	c.e4+1	p.V475_splice	MSL1_ENST00000579565.1_Splice_Site_p.V212_splice|MSL1_ENST00000578648.1_Intron			Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	475					histone H4-K16 acetylation	MSL complex		p.V274I(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						AGTCTTGGCTGGTGAGTAGAA	0.493000													65	161					0	0	0.014410	0	0
DSCAM	1826	broad.mit.edu	37	21	42080523	42080523	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr21:42080523C>A	ENST00000400454.1	-	2	695	c.218G>T	c.(217-219)cGc>cTc	p.R73L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	73	Ig-like C2-type 1.				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	p.R73L(1)		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)				GTGGACGTGGCGGATCCCGGG	0.547000													82	37					1.92282e-43	2.7418e-43	0.014410	1	0
KEAP1	9817	broad.mit.edu	37	19	10600419	10600419	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr19:10600419T>C	ENST00000171111.5	-	4	1983	c.1436A>G	c.(1435-1437)gAc>gGc	p.D479G	KEAP1_ENST00000393623.2_Missense_Mutation_p.D479G	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.D479G(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GTTTGTCCCGTCAAAGCCCCC	0.582000													28	30					0	0	0.004289	0	0
SLC41A2	84102	broad.mit.edu	37	12	105321916	105321916	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr12:105321916T>A	ENST00000258538.3	-	1	517	c.390A>T	c.(388-390)ttA>ttT	p.L130F		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	130						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	p.L130F(1)|p.L47F(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						CTTCATCTTGTAACATGGCAG	0.403000													117	176					0	0	0.014410	0	0
JRK	8629	broad.mit.edu	37	8	143747207	143747207	+	RNA	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr8:143747207G>A	ENST00000507178.2	-	0	603									jerky homolog (mouse)													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)	Acute lymphoblastic leukemia(644;2.31e-05)				tacaggacgcggtccaggtgc	0.657000													8	5					0	0	0.008291	0	0
CTAGE5	4253	broad.mit.edu	37	14	39769164	39769164	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr14:39769164C>G	ENST00000553728.1	+	13	2587	c.2374C>G	c.(2374-2376)Cta>Gta	p.L792V	CTAGE5_ENST00000280083.3_Missense_Mutation_p.L257V|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.L228V|CTAGE5_ENST00000341502.5_Missense_Mutation_p.L257V|CTAGE5_ENST00000396165.4_Missense_Mutation_p.L228V|CTAGE5_ENST00000348007.3_Missense_Mutation_p.L257V|CTAGE5_ENST00000557038.1_Missense_Mutation_p.L177V|CTAGE5_ENST00000341749.3_Missense_Mutation_p.L245V|CTAGE5_ENST00000396158.2_Missense_Mutation_p.L262V|CTAGE5_ENST00000553352.1_Missense_Mutation_p.L228V|CTAGE5_ENST00000556148.1_Missense_Mutation_p.L182V														p.L257V(1)									AGAACAAGTTCTAAATGATAA	0.338000													37	45					0	0	0.005524	0	0
BCAN	63827	broad.mit.edu	37	1	156626175	156626175	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:156626175G>T	ENST00000329117.4	+	9	2380	c.2044G>T	c.(2044-2046)Gat>Tat	p.D682Y	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	682	EGF-like.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	p.D682Y(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGACCTGTGCGATGTTGGTGA	0.612000													46	109					8.86878e-18	1.13062e-17	0.014410	1	0
LRFN5	145581	broad.mit.edu	37	14	42356779	42356779	+	Silent	SNP	A	A	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr14:42356779A>T	ENST00000554171.1	+	5	3383	c.951A>T	c.(949-951)gcA>gcT	p.A317A	LRFN5_ENST00000298119.4_Silent_p.A317A|LRFN5_ENST00000554120.1_Silent_p.A317A			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	317	Ig-like.					integral to membrane		p.A317A(1)		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)		CTGAGCCTGCAATTCACTGGA	0.468000										HNSCC(30;0.082)			53	122					0	0	0.014410	0	0
EPS8L3	79574	broad.mit.edu	37	1	110293406	110293406	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:110293406C>A	ENST00000369805.3	-	18	1878	c.1649G>T	c.(1648-1650)aGg>aTg	p.R550M	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Missense_Mutation_p.R549M|EPS8L3_ENST00000361852.4_Missense_Mutation_p.R519M	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	549						cytoplasm	protein binding	p.R550M(1)		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)		CCCAAGTGTCCTCACCGTGCT	0.607000													8	27					1.76689e-08	1.96039e-08	0.006214	1	0
SV2B	9899	broad.mit.edu	37	15	91827441	91827441	+	Silent	SNP	C	C	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr15:91827441C>G	ENST00000394232.1	+	11	2168	c.1698C>G	c.(1696-1698)ctC>ctG	p.L566L	SV2B_ENST00000330276.4_Silent_p.L566L|SV2B_ENST00000545111.2_Silent_p.L415L	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	566					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.L566L(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TTGGAAGGCTCAAGATGATTG	0.473000													41	87					0	0	0.006230	0	0
TIAM2	26230	broad.mit.edu	37	6	155465909	155465909	+	Silent	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr6:155465909C>T	ENST00000461783.3	+	8	3073	c.1800C>T	c.(1798-1800)ttC>ttT	p.F600F	TIAM2_ENST00000360366.4_Silent_p.F600F|TIAM2_ENST00000456144.1_Silent_p.F600F|TIAM2_ENST00000529824.2_Silent_p.F600F|TIAM2_ENST00000318981.5_Silent_p.F600F|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	600	PH 1.				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	p.F600F(1)		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)		TCTACCTTTTCCAGGTACTGC	0.403000													72	67					0	0	0.014410	0	0
MID1	4281	broad.mit.edu	37	X	10535644	10535644	+	Splice_Site	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chrX:10535644C>T	ENST00000317552.4	-	2	345		c.e2-1		MID1_ENST00000380787.1_Splice_Site|MID1_ENST00000453318.2_Splice_Site|MID1_ENST00000380779.1_Splice_Site|MID1_ENST00000380785.1_Splice_Site|MID1_ENST00000380780.1_Splice_Site|MID1_ENST00000380782.2_Splice_Site	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)						microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GATCAGCTATCTGGAAACAAG	0.453000													5	23					0	0	0.000602	0	0
TAS2R13	50838	broad.mit.edu	37	12	11061032	11061032	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr12:11061032C>G	ENST00000390677.2	-	1	1129	c.866G>C	c.(865-867)aGa>aCa	p.R289T	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	289					sensory perception of taste	integral to membrane	taste receptor activity	p.R289T(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						AAAGGCCTGTCTTAACTTAGC	0.418000													29	244					0	0	0.010818	0	0
USP7	7874	broad.mit.edu	37	16	8993022	8993022	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr16:8993022C>A	ENST00000344836.4	-	23	2685	c.2487G>T	c.(2485-2487)agG>agT	p.R829S	USP7_ENST00000381886.4_Missense_Mutation_p.R813S|USP7_ENST00000535863.1_Missense_Mutation_p.R730S	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	829					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	p.R829S(1)		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						CTGTGTTGAGCCTCTGTGCAA	0.413000													30	71					6.50621e-10	7.43291e-10	0.013726	1	0
MARCH1	55016	broad.mit.edu	37	4	164449921	164449921	+	Silent	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr4:164449921G>T	ENST00000503008.1	-	8	1825	c.849C>A	c.(847-849)ccC>ccA	p.P283P	MARCH1_ENST00000274056.7_Silent_p.P283P|MARCH1_ENST00000514618.1_Silent_p.P539P|MARCH1_ENST00000339875.5_Silent_p.P266P	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	283					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.P283P(1)|p.P266P(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAACTTCAGGGGGGCCACCCT	0.453000													35	25					2.87052e-16	3.58815e-16	0.005524	1	0
CLEC17A	388512	broad.mit.edu	37	19	14710915	14710915	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr19:14710915C>T	ENST00000547437.1	+	12	892	c.815C>T	c.(814-816)aCc>aTc	p.T272I	CLEC17A_ENST00000397439.2_Missense_Mutation_p.T255I|CLEC17A_ENST00000417570.1_Missense_Mutation_p.T272I	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	272	C-type lectin.					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity	p.T272I(1)									TCCCCAAGCACCAAGTCATGG	0.527000													28	18					0	0	0.012213	0	0
EML2	24139	broad.mit.edu	37	19	46124826	46124826	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr19:46124826C>A	ENST00000536630.1	-	13	1490	c.1352G>T	c.(1351-1353)cGg>cTg	p.R451L	EML2_ENST00000589876.1_Missense_Mutation_p.R304L|EML2_ENST00000587152.1_Missense_Mutation_p.R505L|EML2_ENST00000586902.1_5'UTR|EML2_ENST00000245925.3_Missense_Mutation_p.R304L	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	304					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	p.R304L(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CGTCCCGTCCCGCAGGGCGCA	0.687000													9	35					5.50884e-06	5.8914e-06	0.013537	1	0
CD47	961	broad.mit.edu	37	3	107799048	107799048	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr3:107799048C>G	ENST00000355354.7	-	2	306	c.190G>C	c.(190-192)Gat>Cat	p.D64H	CD47_ENST00000361309.5_Missense_Mutation_p.D64H	NM_198793.2	NP_942088.1	Q08722	CD47_HUMAN	CD47 molecule	64	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to plasma membrane	protein binding|thrombospondin receptor activity	p.D64H(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			GTGTAAATATCTCTTCCTTTA	0.378000													89	41					0	0	0.014410	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884150	24884150	+	Silent	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr14:24884150G>T	ENST00000382554.3	+	9	3513	c.3195G>T	c.(3193-3195)ctG>ctT	p.L1065L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1065					DNA integration	integral to membrane	DNA binding	p.L1065L(1)		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						CTCCCTACCTGGGCATCCCCT	0.637000													46	76					5.13769e-22	6.79728e-22	0.014410	1	0
AHNAK2	113146	broad.mit.edu	37	14	105411354	105411354	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr14:105411354G>C	ENST00000333244.5	-	7	10553	c.10434C>G	c.(10432-10434)ttC>ttG	p.F3478L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3478						nucleus		p.F3478L(1)		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)			AGGGCATCTTGAACTTGGGCA	0.627000													139	129					0	0	0.014410	0	0
RNF130	55819	broad.mit.edu	37	5	179467544	179467544	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr5:179467544C>G	ENST00000522208.2	-	2	369	c.351G>C	c.(349-351)gaG>gaC	p.E117D	RNF130_ENST00000521389.1_Missense_Mutation_p.E117D|RNF130_ENST00000261947.4_Missense_Mutation_p.E117D			Q86XS8	GOLI_HUMAN	ring finger protein 130	117	PA.				apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding	p.E117D(1)		breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGATATTTTCTCTTTAAACG	0.448000													34	113					0	0	0.003755	0	0
ZNF214	7761	broad.mit.edu	37	11	7022088	7022088	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr11:7022088C>T	ENST00000278314.4	-	3	1141	c.826G>A	c.(826-828)Gga>Aga	p.G276R	ZNF214_ENST00000536068.1_Missense_Mutation_p.G276R	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G276R(1)		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)		TCATCACATCCGTACAGCTTC	0.438000													76	101					0	0	0.014410	0	0
NPAP1	23742	broad.mit.edu	37	15	24922567	24922567	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr15:24922567C>A	ENST00000329468.2	+	1	2027	c.1553C>A	c.(1552-1554)tCt>tAt	p.S518Y		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.S518Y(1)									TCCCCAATATCTATGTGTGTG	0.547000													146	109					2.909e-70	4.24229e-70	0.014410	1	0
STK11	6794	broad.mit.edu	37	19	1207078	1207078	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr19:1207078G>T	ENST00000326873.7	+	1	1339	c.166G>T	c.(166-168)Ggg>Tgg	p.G56W	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	56	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(3)|p.G56W(2)|p.G56fs*107(1)|p.G56fs*4(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACCTGCTGGGGGAAGGCTC	0.612000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			17	14					2.35188e-11	2.72733e-11	0.006122	1	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			15	15					1.00905e-13	1.21401e-13	0.008871	1	0
SPTA1	6708	broad.mit.edu	37	1	158618419	158618419	+	Silent	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:158618419C>T	ENST00000368148.3	-	26	3774	c.3594G>A	c.(3592-3594)caG>caA	p.Q1198Q	SPTA1_ENST00000368147.3_Silent_p.Q1198Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1198					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.Q1198Q(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)					TCTTCTCAATCTGCTCCTTCG	0.507000													22	129					0	0	0.002780	0	0
RUNX1T1	862	broad.mit.edu	37	8	92983040	92983040	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr8:92983040G>T	ENST00000523629.1	-	11	1839	c.1385C>A	c.(1384-1386)aCg>aAg	p.T462K	RUNX1T1_ENST00000265814.3_Missense_Mutation_p.T462K|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.T435K|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.T425K|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.T425K|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.T435K|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.T425K|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.T473K	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	462					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T473K(1)|p.T425K(1)|p.T462K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTGCAGCTCCGTCATCGCCTG	0.587000													21	49					3.08376e-08	3.38247e-08	0.003330	1	0
FEZF1	389549	broad.mit.edu	37	7	121943805	121943805	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr7:121943805G>T	ENST00000442488.2	-	1	754	c.687C>A	c.(685-687)taC>taA	p.Y229*	FEZF1_ENST00000427185.2_Nonsense_Mutation_p.Y179*|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Nonsense_Mutation_p.Y229*	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	229					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y229*(1)		breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						TTTCTTTCATGTAATGCTGCA	0.502000													93	54					5.70515e-31	7.87269e-31	0.014410	1	0
NCOA6	23054	broad.mit.edu	37	20	33330706	33330706	+	Silent	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr20:33330706C>T	ENST00000374796.2	-	12	5924	c.3354G>A	c.(3352-3354)ccG>ccA	p.P1118P	NCOA6_ENST00000359003.2_Silent_p.P1118P			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1118	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	p.P1118P(1)		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						AAGGATTCTGCGGGCTCTCCT	0.537000													51	85					0	0	0.014410	0	0
PRIM1	5557	broad.mit.edu	37	12	57136825	57136825	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr12:57136825C>T	ENST00000338193.6	-	7	730	c.694G>A	c.(694-696)Gat>Aat	p.D232N		NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	232					DNA replication, synthesis of RNA primer|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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding	p.D232N(1)		kidney(1)|lung(6)|prostate(1)	8						TCGAGAATATCTTGATTAACC	0.323000													4	6					0	0	0.009096	0	0
OR11L1	391189	broad.mit.edu	37	1	248004695	248004695	+	Silent	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:248004695G>A	ENST00000355784.2	-	1	559	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F168F(1)		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)			TGCGCCCACAGAAGTCCAACC	0.542000													69	128					0	0	0.014410	0	0
CDK1	983	broad.mit.edu	37	10	62547906	62547906	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr10:62547906T>A	ENST00000448257.2	+	5	608	c.407T>A	c.(406-408)aTt>aAt	p.I136N	CDK1_ENST00000373809.2_Intron|CDK1_ENST00000316629.4_Intron|CDK1_ENST00000395284.3_Missense_Mutation_p.I136N			P06493	CDK1_HUMAN	cyclin-dependent kinase 1	136	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|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|midbody|nucleoplasm|spindle microtubule	ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity	p.I136N(1)		ovary(1)	1						AATCTCTTGATTGATGACAAA	0.378000													55	54					0	0	0.014410	0	0
PDP2	57546	broad.mit.edu	37	16	66918316	66918316	+	Silent	SNP	C	C	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr16:66918316C>T	ENST00000311765.2	+	2	463	c.129C>T	c.(127-129)tcC>tcT	p.S43S	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	43					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding	p.S43S(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GGCTCTTTTCCCGGGTGCCAC	0.448000													26	184					0	0	0.005443	0	0
C20orf195	79025	broad.mit.edu	37	20	62187844	62187844	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr20:62187844C>A	ENST00000370098.3	+	2	920	c.828C>A	c.(826-828)aaC>aaA	p.N276K	C20orf195_ENST00000370097.1_Missense_Mutation_p.N276K	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	276								p.N276K(1)		large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			TGCTGCCCAACCGATCCTATA	0.652000													39	121					1.6237e-14	1.9658e-14	0.013114	1	0
LPHN2	23266	broad.mit.edu	37	1	82452662	82452662	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:82452662G>T	ENST00000370728.1	+	24	4219	c.3574G>T	c.(3574-3576)Gct>Tct	p.A1192S	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Intron|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370721.1_Missense_Mutation_p.A1117S|LPHN2_ENST00000370723.1_Missense_Mutation_p.A1194S|LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.A1207S|LPHN2_ENST00000370725.1_Missense_Mutation_p.A1207S|LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.A1194S|LPHN2_ENST00000370715.1_Intron			O95490	LPHN2_HUMAN	latrophilin 2	1192					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)		CACATTGCTCGCTGAAACAGT	0.398000													39	56					3.61848e-18	4.64371e-18	0.007835	1	0
CRYBB1	1414	broad.mit.edu	37	22	26995496	26995496	+	Silent	SNP	G	G	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr22:26995496G>A	ENST00000215939.2	-	6	847	c.717C>T	c.(715-717)ctC>ctT	p.L239L		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	239	C-terminal arm.				visual perception		structural constituent of eye lens	p.L239L(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						AGGACCCCTCGAGGTGCCACT	0.597000													40	37					0	0	0.010771	0	0
DMRT3	58524	broad.mit.edu	37	9	990765	990765	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr9:990765C>A	ENST00000190165.2	+	2	1217	c.1179C>A	c.(1177-1179)aaC>aaA	p.N393K		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	393					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.N393K(1)		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)		CCCTGTGGAACACCATGACGC	0.577000													15	15					5.01169e-05	5.27186e-05	0.004990	1	0
PPFIA2	8499	broad.mit.edu	37	12	82070623	82070623	+	Splice_Site	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr12:82070623C>A	ENST00000550584.2	-	3	545	c.249_splice	c.e3-1	p.D84_splice	PPFIA2_ENST00000549325.1_Intron|PPFIA2_ENST00000549396.1_Splice_Site_p.D84_splice|PPFIA2_ENST00000548586.1_Splice_Site_p.D84_splice|PPFIA2_ENST00000552948.1_Splice_Site_p.D84_splice|PPFIA2_ENST00000333447.7_Intron	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	342								p.D84Y(1)		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						GATTCGATATCCTGAAAAGGG	0.418000													12	28					2.31682e-05	2.46402e-05	0.003163	1	0
DYNLRB1	83658	broad.mit.edu	37	20	33122702	33122702	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr20:33122702A>G	ENST00000417166.2	+	3	383	c.350A>G	c.(349-351)cAg>cGg	p.Q117R	DYNLRB1_ENST00000357156.2_Intron|DYNLRB1_ENST00000374846.3_Intron|DYNLRB1_ENST00000480759.1_Intron			Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1	0					microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity			endometrium(1)|large_intestine(1)|lung(1)	3						GGATCCAAGCAGGGCCCGAGG	0.592000													2	9					0	0	0.004672	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906989	164906989	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr3:164906989C>A	ENST00000475390.1	-	2	2073	c.1630G>T	c.(1630-1632)Gtg>Ttg	p.V544L	SLITRK3_ENST00000241274.3_Missense_Mutation_p.V544L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	544						integral to membrane		p.V544L(1)		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						ACACCAGCCACGGGAAGATAG	0.512000										HNSCC(40;0.11)			45	24					9.52127e-25	1.29074e-24	0.014410	1	0
MEAF6	64769	broad.mit.edu	37	1	37979055	37979075	+	In_Frame_Del	DEL	GAATAATATTGCCATACATCT	GAATAATATTGCCATACATCT	-			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:37979055_37979075delGAATAATATTGCCATACATCT	ENST00000373075.2	-	2	171_191	c.155_175delAGATGTATGGCAATATTATTC	c.(154-177)cgt>c	p.QMYGNIIR52del	MEAF6_ENST00000373074.1_In_Frame_Del_p.QMYGNIIR30del|MEAF6_ENST00000448519.2_In_Frame_Del_p.QMYGNIIR52del|MEAF6_ENST00000475828.1_5'UTR|MEAF6_ENST00000373073.4_In_Frame_Del_p.QMYGNIIR52del|MEAF6_ENST00000296214.5_In_Frame_Del_p.QMYGNIIR52del	NM_022756.4	NP_073593.2	Q9HAF1	EAF6_HUMAN	MYST/Esa1-associated factor 6	52					histone H2A acetylation|histone H3-K14 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|NuA4 histone acetyltransferase complex|nucleolus	protein binding	p.I58delI(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						TCCCAGCCACGAATAATATTGCCATACATCTGAGTGTCTTC	0.425													26	120	---	---	---	---					
C1orf35	79169	broad.mit.edu	37	1	228289088	228289093	+	In_Frame_Del	DEL	TCTTTG	TCTTTG	-			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr1:228289088_228289093delTCTTTG	ENST00000272139.4	-	7	849_854	c.615_620delCAAAGA	c.(613-621)gag>ga	p.DKE205del	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	205	Lys-rich.									large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				CCGCCTGTGCTCTTTGTCTttcttct	0.510													21	47	---	---	---	---					
ALPP	250	broad.mit.edu	37	2	233244592	233244592	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr2:233244592delC	ENST00000392027.2	+	5	872	c.603delC	c.(601-603)cgfs	p.R201fs	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	201						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		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)		CCTCCGCCCGCCAGGAGGGGT	0.667													34	40	---	---	---	---					
NLRP5	126206	broad.mit.edu	37	19	56538866	56538867	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-05-4395-01A-01D-1265-08	TCGA-05-4395-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc45b4de-4c03-4fe4-89e0-d1cf378084b6	9e14ff2f-9657-4899-b988-f3b449284d39	g.chr19:56538866_56538867insCC	ENST00000390649.3	+	7	1267_1268	c.1267_1268insCC	c.(1267-1269)tccfs	p.S423fs		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	423	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGAGGTCGTGTCTCCCCGTTAC	0.550													11	13	---	---	---	---