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
AFF1	4299	broad.mit.edu	37	4	88029353	88029353	+	Silent	SNP	C	C	T	rs146991025	byFrequency	TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:88029353C>T	ENST00000307808.6	+	10	1818	c.1398C>T	c.(1396-1398)tcC>tcT	p.S466S	AFF1_ENST00000395146.4_Silent_p.S473S|AFF1_ENST00000544085.1_Silent_p.S104S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	466						nucleus	sequence-specific DNA binding transcription factor activity	p.S473S(1)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CAGCACATTCCAGCAGTGCAG	0.473000													28	34					0	0	0.006320	0	0
MKI67	4288	broad.mit.edu	37	10	129904199	129904199	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:129904199C>T	ENST00000368654.3	-	13	6280	c.5905G>A	c.(5905-5907)Gaa>Aaa	p.E1969K	MKI67_ENST00000368653.3_Missense_Mutation_p.E1609K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1969	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.E1969K(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTCATTGATTCCTCAGTGTGA	0.483000													75	250					0	0	0.003610	0	0
FAM129C	199786	broad.mit.edu	37	19	17654231	17654231	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:17654231C>T	ENST00000335393.4	+	12	1666	c.1528C>T	c.(1528-1530)Cgc>Tgc	p.R510C	FAM129C_ENST00000300971.2_Missense_Mutation_p.R510C|FAM129C_ENST00000599164.1_Missense_Mutation_p.R479C|FAM129C_ENST00000352727.3_Missense_Mutation_p.R510C|FAM129C_ENST00000332386.5_Missense_Mutation_p.R510C|FAM129C_ENST00000601861.1_Missense_Mutation_p.R479C|FAM129C_ENST00000449408.2_Missense_Mutation_p.R236C|FAM129C_ENST00000600871.1_Missense_Mutation_p.R456C|FAM129C_ENST00000599124.1_Missense_Mutation_p.R479C|FAM129C_ENST00000595684.1_Missense_Mutation_p.R510C	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	510								p.R510C(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						AGTCAGGGGGCGCGTGCTGAA	0.657000													46	56					0	0	0.003610	0	0
TGM2	7052	broad.mit.edu	37	20	36779382	36779382	+	Missense_Mutation	SNP	A	A	G	rs35700485		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:36779382A>G	ENST00000361475.2	-	4	684	c.511T>C	c.(511-513)Tcg>Ccg	p.S171P	TGM2_ENST00000536701.1_Missense_Mutation_p.S90P|TGM2_ENST00000536724.1_Missense_Mutation_p.S111P	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	171					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	p.S171P(1)		endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	AACTTGGCCGAGCCCTGGTAG	0.582000													14	148					0	0	0.002450	0	0
TLE3	7090	broad.mit.edu	37	15	70345643	70345643	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:70345643C>A	ENST00000558939.1	-	17	3283	c.1906G>T	c.(1906-1908)Ggg>Tgg	p.G636W	TLE3_ENST00000559191.1_Missense_Mutation_p.G217W|TLE3_ENST00000317509.8_Missense_Mutation_p.G624W|TLE3_ENST00000560589.1_Missense_Mutation_p.G580W|TLE3_ENST00000557907.1_Missense_Mutation_p.G628W|TLE3_ENST00000559048.1_Missense_Mutation_p.G636W|TLE3_ENST00000560939.1_Missense_Mutation_p.G638W|TLE3_ENST00000451782.2_Missense_Mutation_p.G633W|TLE3_ENST00000558201.1_Missense_Mutation_p.G642W|TLE3_ENST00000557997.1_Missense_Mutation_p.G628W|TLE3_ENST00000558379.1_Missense_Mutation_p.G631W|TLE3_ENST00000440567.3_Missense_Mutation_p.G626W|TLE3_ENST00000559929.1_Missense_Mutation_p.G646W|TLE3_ENST00000539550.1_Missense_Mutation_p.G563W|TLE3_ENST00000442299.2_Missense_Mutation_p.G628W			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	636					organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	p.G636L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCCAGGCCCCCTGTCCACAGT	0.627000													4	8					0.00909568	0.00956074	0.009096	1	0
HIST1H4E	8367	broad.mit.edu	37	6	26204885	26204885	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:26204885G>T	ENST00000360441.4	+	1	28	c.13G>T	c.(13-15)Ggc>Tgc	p.G5C		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	5					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.G5C(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GTCTGGTCGCGGCAAAGGCGG	0.517000													45	94					4.00472e-15	5.69159e-15	0.003610	1	0
DDHD2	23259	broad.mit.edu	37	8	38095615	38095615	+	Silent	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:38095615G>C	ENST00000397166.2	+	5	1035	c.510G>C	c.(508-510)gtG>gtC	p.V170V	DDHD2_ENST00000520272.2_Silent_p.V170V	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	170					lipid catabolic process	centrosome	hydrolase activity|metal ion binding	p.V170V(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			AGCTTATGGTGCATTACCAGC	0.413000													18	70					0	0	0.007413	0	0
SLC12A9	56996	broad.mit.edu	37	7	100451828	100451828	+	Missense_Mutation	SNP	C	C	A	rs145131568		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:100451828C>A	ENST00000354161.3	+	2	134	c.9C>A	c.(7-9)agC>agA	p.S3R	SLC12A9_ENST00000428758.1_Missense_Mutation_p.S3R|SLC12A9_ENST00000415287.1_Missense_Mutation_p.S3R|SLC12A9_ENST00000540482.1_Missense_Mutation_p.S3R|SLC12A9_ENST00000275729.3_Missense_Mutation_p.S3R	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	3						integral to membrane|plasma membrane	cation:chloride symporter activity	p.S3R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCATGGCCAGCGAGAGCTCAC	0.637000													19	43					8.10497e-08	9.82825e-08	0.010504	1	0
BTAF1	9044	broad.mit.edu	37	10	93717010	93717010	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:93717010G>T	ENST00000265990.6	+	8	1168	c.860G>T	c.(859-861)tGt>tTt	p.C287F	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	287					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	p.C287F(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GAAAGCTTTTGTGAAGAACTT	0.323000													14	55					1.05317e-09	1.35517e-09	0.002450	1	0
RIMBP2	23504	broad.mit.edu	37	12	130963483	130963483	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:130963483G>T	ENST00000261655.4	-	3	239	c.76C>A	c.(76-78)Cag>Aag	p.Q26K	RIMBP2_ENST00000535703.1_5'UTR|RIMBP2_ENST00000536002.1_5'UTR	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	26						cell junction|synapse		p.Q26K(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ATTTCCTGCTGCTTGGCACTG	0.662000													16	52					5.35267e-07	6.34284e-07	0.007413	1	0
LDB2	9079	broad.mit.edu	37	4	16513703	16513703	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:16513703G>C	ENST00000502640.1	-	6	788	c.640C>G	c.(640-642)Cag>Gag	p.Q214E	LDB2_ENST00000304523.5_Missense_Mutation_p.Q214E|LDB2_ENST00000515064.1_Missense_Mutation_p.Q214E|LDB2_ENST00000441778.2_Missense_Mutation_p.Q214E|LDB2_ENST00000503178.2_Missense_Mutation_p.Q90E|RP11-446J8.1_ENST00000512370.1_RNA			O43679	LDB2_HUMAN	LIM domain binding 2	214							LIM domain binding|transcription cofactor activity	p.Q214K(2)|p.Q214E(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						ATCAGTTCCTGCATTGGCTCC	0.438000													17	50					0	0	0.004990	0	0
CPA5	93979	broad.mit.edu	37	7	130008287	130008287	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:130008287A>T	ENST00000485477.1	+	12	2289	c.1160A>T	c.(1159-1161)gAc>gTc	p.D387V	CPA5_ENST00000461828.1_Missense_Mutation_p.D387V|CPA5_ENST00000474905.1_Missense_Mutation_p.D387V|CPA5_ENST00000431780.2_Missense_Mutation_p.T359S|CPA5_ENST00000393213.3_Missense_Mutation_p.D387V|CPA5_ENST00000466363.2_Missense_Mutation_p.D387V|CPA5_ENST00000355388.3_Missense_Mutation_p.D387V			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	387					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	p.D387V(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TGGGCCTATGACAGTGGCATC	0.562000													21	65					0	0	0.003610	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111531407	111531407	+	Splice_Site	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:111531407T>C	ENST00000261486.5	-	16	1653		c.e16-2		EPB41L4A_ENST00000507810.1_Splice_Site|CTC-459M5.2_ENST00000515563.1_RNA|CTC-459M5.2_ENST00000506875.1_RNA	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A							cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	p.?(2)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TGGGCTTTCCTGTGAAAACAA	0.368000													12	22					0	0	0.000978	0	0
RNF216	54476	broad.mit.edu	37	7	5752387	5752387	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:5752387G>A	ENST00000425013.2	-	12	1994	c.1770C>T	c.(1768-1770)gcC>gcT	p.A590A	RNF216_ENST00000389902.3_Silent_p.A647A	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	590					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	p.A647A(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CCTCCTCCTCGGCTTTTCGCT	0.562000													12	44					0	0	0.001855	0	0
FAM78B	149297	broad.mit.edu	37	1	166039591	166039591	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:166039591G>T	ENST00000338353.3	-	3	1262	c.673C>A	c.(673-675)Cgg>Agg	p.R225R	FAM78B_ENST00000354422.3_Silent_p.R225R			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	225								p.R225R(1)		central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					GGTTCCATCCGGCTCAGGATC	0.622000													20	75					8.00594e-06	9.21517e-06	0.007413	1	0
MAGEA5	4104	broad.mit.edu	37	X	151283559	151283559	+	RNA	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:151283559C>A	ENST00000509345.2	-	0	777																											GAGGCTTTGCCGAAGATCACA	0.517000													32	84					8.73648e-17	1.28503e-16	0.004289	1	0
BPHL	670	broad.mit.edu	37	6	3137680	3137680	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:3137680G>T	ENST00000380375.3	+	6	1210	c.566G>T	c.(565-567)tGt>tTt	p.C189F	BPHL_ENST00000434640.1_Missense_Mutation_p.C189F|BPHL_ENST00000380368.2_Intron|BPHL_ENST00000380379.5_Missense_Mutation_p.C206F			Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	206					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity	p.C189L(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GCCAGAACCTGTGAAAAGTGG	0.468000													25	160					6.21321e-17	9.15413e-17	0.002780	1	0
BAIAP2	10458	broad.mit.edu	37	17	79090043	79090043	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:79090043G>A	ENST00000321300.6	+	15	1690	c.1597G>A	c.(1597-1599)Gcc>Acc	p.A533T		NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	533					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	p.A533T(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGATCTGTCCGCCCAAGGGCC	0.632000													44	50					0	0	0.003610	0	0
C10orf12	26148	broad.mit.edu	37	10	98743640	98743640	+	Silent	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:98743640A>G	ENST00000286067.2	+	1	2600	c.2493A>G	c.(2491-2493)aaA>aaG	p.K831K		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	831								p.K831K(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CAAGGAACAAATCAGATAAAC	0.433000													4	26					0	0	0.009096	0	0
INTS2	57508	broad.mit.edu	37	17	60003898	60003898	+	Silent	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:60003898A>T	ENST00000444766.3	-	2	207	c.132T>A	c.(130-132)ctT>ctA	p.L44L	INTS2_ENST00000251334.6_Silent_p.L36L	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	44					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	p.L44L(1)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						AGGGCAGAAGAAGTCTTAATT	0.468000													3	24					0	0	0.009096	0	0
RYR3	6263	broad.mit.edu	37	15	34023715	34023715	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:34023715G>T	ENST00000389232.4	+	48	7314	c.7244G>T	c.(7243-7245)aGg>aTg	p.R2415M	RYR3_ENST00000415757.3_Missense_Mutation_p.R2415M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2415	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R2415M(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCACTAAATAGGTATATATGT	0.502000													4	12					0.00024832	0.000273028	0.009096	1	0
MRAP	56246	broad.mit.edu	37	21	33671312	33671312	+	Silent	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr21:33671312A>T	ENST00000399784.2	+	3	217	c.30A>T	c.(28-30)ccA>ccT	p.P10P	MRAP_ENST00000497833.1_Intron|MRAP_ENST00000303645.5_Silent_p.P10P|MRAP_ENST00000399786.3_Silent_p.P10P|MRAP_ENST00000339944.4_Silent_p.P10P	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	10					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	p.P10H(2)		endometrium(1)|large_intestine(2)|lung(3)	6						CCTCTGCCCCATACTACAGCT	0.607000													20	45					0	0	0.010504	0	0
HIST1H1T	3010	broad.mit.edu	37	6	26107887	26107887	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:26107887C>A	ENST00000338379.4	-	1	477	c.435G>T	c.(433-435)aaG>aaT	p.K145N		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	145					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding	p.K145N(1)		breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						TTTTAGCAGTCTTTGGTGACT	0.463000													95	134					5.48297e-45	9.19724e-45	0.003610	1	0
MGA	23269	broad.mit.edu	37	15	41988781	41988781	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:41988781G>T	ENST00000219905.7	+	3	1754	c.1573G>T	c.(1573-1575)Gaa>Taa	p.E525*	MGA_ENST00000566586.1_Nonsense_Mutation_p.E525*|MGA_ENST00000568630.1_3'UTR|MGA_ENST00000389936.4_Nonsense_Mutation_p.E525*|MGA_ENST00000545763.1_Nonsense_Mutation_p.E525*|MGA_ENST00000570161.1_Nonsense_Mutation_p.E525*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	525						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.E525*(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CTTAGGCAAGGAATCAGAAAA	0.373000													9	29					0.00448238	0.00479132	0.004482	1	0
LILRB1	10859	broad.mit.edu	37	19	55143585	55143585	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:55143585C>T	ENST00000396331.1	+	6	915	c.558C>T	c.(556-558)ccC>ccT	p.P186P	LILRB1_ENST00000448689.1_Silent_p.P186P|LILRB1_ENST00000434867.2_Silent_p.P186P|LILRB1_ENST00000418536.2_Silent_p.P186P|LILRB1_ENST00000396315.1_Silent_p.P186P|LILRB1_ENST00000324602.7_Silent_p.P186P|LILRB1_ENST00000396317.1_Silent_p.P186P|LILRB1_ENST00000427581.2_Silent_p.P222P|LILRB1_ENST00000396321.2_Silent_p.P186P|LILRB1_ENST00000396327.3_Silent_p.P186P|LILRB1_ENST00000396332.4_Silent_p.P186P	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	186	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.P186P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCGTGGGCCCCGTGAGCCCGA	0.592000										HNSCC(37;0.09)			59	82					0	0	0.003610	0	0
ADCY2	108	broad.mit.edu	37	5	7690890	7690890	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:7690890G>T	ENST00000338316.4	+	5	896	c.807G>T	c.(805-807)gcG>gcT	p.A269A	ADCY2_ENST00000537121.1_Silent_p.A89A|ADCY2_ENST00000513693.1_3'UTR	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	269					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.A269A(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GCCCCAAGGCGGGCCAGATGG	0.582000													19	74					2.4624e-09	3.14107e-09	0.008871	1	0
RBMXL2	27288	broad.mit.edu	37	11	7110638	7110638	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:7110638C>A	ENST00000306904.5	+	1	474	c.287C>A	c.(286-288)cCg>cAg	p.P96Q		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	96	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	p.P96Q(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGGCGGGGCCCGCCGCCTCCC	0.746000													5	7					0.00116845	0.00126118	0.001168	1	0
ERGIC3	51614	broad.mit.edu	37	20	34135189	34135189	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:34135189T>C	ENST00000348547.2	+	5	471	c.394T>C	c.(394-396)Ttt>Ctt	p.F132L	ERGIC3_ENST00000447986.1_Missense_Mutation_p.F132L|ERGIC3_ENST00000279052.6_Missense_Mutation_p.F132L|ERGIC3_ENST00000357394.4_Missense_Mutation_p.F132L	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	132					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding	p.F132L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GGTGACGGTGTTTGACCCTGA	0.592000													17	56					0	0	0.006122	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141164	143141164	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:143141164G>A	ENST00000332690.1	+	1	619	c.619G>A	c.(619-621)Gct>Act	p.A207T	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	207					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.A207T(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					AATGCCCACTGCTGTCTTTTT	0.453000													56	89					0	0	0.003610	0	0
NACAP1	83955	broad.mit.edu	37	8	102381147	102381147	+	RNA	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:102381147G>A	ENST00000419462.1	+	0	559					NR_002182.1																						AATGCCTGGCGAAGCCACAGA	0.567000													14	28					0	0	0.001855	0	0
FRY	10129	broad.mit.edu	37	13	32811922	32811922	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr13:32811922C>T	ENST00000380250.3	+	44	6713	c.6217C>T	c.(6217-6219)Cat>Tat	p.H2073Y		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2073					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.H2073Y(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACTACTGGCACATATGCCACT	0.517000													3	33					0	0	0.009096	0	0
ATP13A5	344905	broad.mit.edu	37	3	193052754	193052754	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:193052754C>A	ENST00000342358.4	-	10	1195	c.1078G>T	c.(1078-1080)Ggg>Tgg	p.G360W		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	360					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.G360W(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GGCCCCTGCCCAGAGGGCTTG	0.458000													61	33					9.4991e-31	1.54645e-30	0.003610	1	0
MYOM2	9172	broad.mit.edu	37	8	2054306	2054306	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:2054306G>A	ENST00000262113.4	+	23	3058	c.2917G>A	c.(2917-2919)Gat>Aat	p.D973N	MYOM2_ENST00000523438.1_Missense_Mutation_p.D398N	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	973	Ig-like C2-type 3.				muscle contraction	myosin filament	structural constituent of muscle	p.D973N(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAAGAATCCGGATAAGGAGGA	0.413000													8	52					0	0	0.003080	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518241	113518241	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:113518241G>T	ENST00000284601.3	-	4	2974	c.2906C>A	c.(2905-2907)cCt>cAt	p.P969H		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	969					glycogen metabolic process	integral to membrane		p.P969H(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTAGACTCAGGATAAGGGTG	0.378000													39	82					8.69298e-16	1.25565e-15	0.006999	1	0
TREML4	285852	broad.mit.edu	37	6	41196631	41196631	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:41196631C>A	ENST00000341495.2	+	2	347	c.243C>A	c.(241-243)taC>taA	p.Y81*	TREML4_ENST00000448827.2_Nonsense_Mutation_p.Y81*	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	81	Ig-like V-type.					extracellular region		p.Y81*(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					AGTCTCATTACACAATCTGGG	0.493000													51	38					2.0833e-19	3.1481e-19	0.003610	1	0
BIRC8	112401	broad.mit.edu	37	19	53793627	53793627	+	Translation_Start_Site	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:53793627T>C	ENST00000426466.1	-	1	1248	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	1					apoptosis		zinc ion binding	p.M1V(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TAACCCGTCATGGATGGATTC	0.418000													27	44					0	0	0.006320	0	0
TRMT10C	54931	broad.mit.edu	37	3	101284693	101284693	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:101284693G>T	ENST00000309922.6	+	2	1222	c.1068G>T	c.(1066-1068)atG>atT	p.M356I		NM_017819.2	NP_060289.2			tRNA methyltransferase 10 homolog C (S. cerevisiae)									p.M356I(1)									TAGATCAAATGATACGTATTT	0.378000													13	25					2.27111e-07	2.70939e-07	0.001368	1	0
ANK1	286	broad.mit.edu	37	8	41563755	41563755	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:41563755C>A	ENST00000396942.1	-	18	2086	c.2003G>T	c.(2002-2004)gGa>gTa	p.G668V	ANK1_ENST00000352337.4_Missense_Mutation_p.G668V|ANK1_ENST00000396945.1_Missense_Mutation_p.G668V|ANK1_ENST00000289734.7_Missense_Mutation_p.G668V|ANK1_ENST00000265709.8_Missense_Mutation_p.G701V|ANK1_ENST00000379758.2_Missense_Mutation_p.G668V|ANK1_ENST00000347528.4_Missense_Mutation_p.G668V			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	668	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.G701V(1)|p.G668V(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGGAGTGAGTCCGCTCTGCAA	0.522000													14	19					0.000151284	0.000166961	0.001855	1	0
POLR2E	5434	broad.mit.edu	37	19	1091841	1091841	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:1091841T>A	ENST00000215587.7	-	3	581	c.298A>T	c.(298-300)Aca>Tca	p.T100S	POLR2E_ENST00000585838.1_5'UTR|POLR2E_ENST00000586746.1_Missense_Mutation_p.T100S			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	100					interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity	p.T100S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGCCCGTGTGATGTTCTCC	0.652000													33	37					0	0	0.003271	0	0
ATP1A4	480	broad.mit.edu	37	1	160134024	160134024	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:160134024C>T	ENST00000368081.4	+	7	1328	c.857C>T	c.(856-858)gCg>gTg	p.A286V		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	286					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.A286V(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCAGGCCTGGCGGTTGGCCAG	0.557000													25	140					0	0	0.003330	0	0
MAD1L1	8379	broad.mit.edu	37	7	2255624	2255624	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:2255624C>T	ENST00000406869.1	-	9	1377	c.820G>A	c.(820-822)Gag>Aag	p.E274K	MAD1L1_ENST00000265854.7_Missense_Mutation_p.E274K|MAD1L1_ENST00000399654.2_Missense_Mutation_p.E274K|MAD1L1_ENST00000402746.1_Missense_Mutation_p.E182K			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	274					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	p.E274K(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CCGTTGGTCTCTCTCATCTCC	0.612000													11	133					0	0	0.000978	0	0
SERPINA9	327657	broad.mit.edu	37	14	94935730	94935730	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:94935730C>A	ENST00000337425.5	-	2	576	c.502G>T	c.(502-504)Ggc>Tgc	p.G168C	SERPINA9_ENST00000380365.3_Missense_Mutation_p.G150C|SERPINA9_ENST00000546329.1_Missense_Mutation_p.G132C|SERPINA9_ENST00000424550.2_Missense_Mutation_p.G19C|SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000448305.2_Missense_Mutation_p.G70C	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	150					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	p.G168C(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TTGACATTGCCCAAGAAATTT	0.498000													56	74					8.28887e-21	1.27211e-20	0.003610	1	0
MICALL2	79778	broad.mit.edu	37	7	1474755	1474755	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:1474755C>A	ENST00000297508.7	-	16	2795	c.2620G>T	c.(2620-2622)Gac>Tac	p.D874Y	MICALL2_ENST00000405088.4_Missense_Mutation_p.D662Y|MICALL2_ENST00000471899.1_Intron	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	874						cytoplasm|cytoskeleton	zinc ion binding	p.D874Y(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		TCAATCATGTCCCGCAGCATC	0.647000													28	107					4.2108e-06	4.87857e-06	0.009535	1	0
ZNF777	27153	broad.mit.edu	37	7	149152848	149152848	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:149152848T>A	ENST00000247930.4	-	2	589	c.266A>T	c.(265-267)cAa>cTa	p.Q89L		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q89L(1)		large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGAAGTCTCTTGCTCAGAAGC	0.602000													58	69					0	0	0.003610	0	0
TAAR8	83551	broad.mit.edu	37	6	132874098	132874098	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:132874098G>T	ENST00000275200.1	+	1	267	c.267G>T	c.(265-267)atG>atT	p.M89I		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	89						plasma membrane	G-protein coupled receptor activity	p.M89I(1)		endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TTTTCAGCATGGTCAGGACGG	0.458000													113	71					6.46527e-39	1.06828e-38	0.003610	1	0
ZNF630	57232	broad.mit.edu	37	X	47918444	47918444	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:47918444C>A	ENST00000276054.4	-	5	1949	c.1015G>T	c.(1015-1017)Gac>Tac	p.D339Y	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000409324.3_Missense_Mutation_p.D463Y|ZNF630_ENST00000442455.3_Missense_Mutation_p.D449Y			Q2M218	ZN630_HUMAN	zinc finger protein 630	463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D463Y(1)		endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TTCCCACAGTCAGTACACACA	0.433000													16	16					3.52763e-06	4.09242e-06	0.004990	1	0
FCGR1A	2209	broad.mit.edu	37	1	149761697	149761697	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:149761697T>G	ENST00000369168.4	+	5	701	c.647T>G	c.(646-648)tTg>tGg	p.L216W	RP11-196G18.21_ENST00000420462.1_RNA|RP11-196G18.3_ENST00000428289.1_RNA|HIST2H2BF_ENST00000545683.1_Intron	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	216	Ig-like C2-type 3.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity	p.L216W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAAACAAAGTTGCTCTTGCAG	0.498000													8	54					0	0	0.000978	0	0
MADCAM1	8174	broad.mit.edu	37	19	498569	498569	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:498569C>A	ENST00000215637.3	+	3	457	c.411C>A	c.(409-411)caC>caA	p.H137Q	AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000587541.1_Intron|MADCAM1_ENST00000382683.4_Missense_Mutation_p.H42Q|MADCAM1_ENST00000346144.4_Missense_Mutation_p.H137Q	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	137	Ig-like 2.				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane		p.H137Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTACGGCCCACAAAGTCACGC	0.711000													4	9					0.00909568	0.00956074	0.009096	1	0
GRIN2A	2903	broad.mit.edu	37	16	9858360	9858360	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr16:9858360C>A	ENST00000396573.2	-	14	3350	c.3041G>T	c.(3040-3042)tGg>tTg	p.W1014L	GRIN2A_ENST00000330684.3_Missense_Mutation_p.W1014L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.W1014L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.W857L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.W1014L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.W1014L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1014					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.W1014L(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGATTTCTTCCACAGCTGCCG	0.532000													5	115					1.024e-07	1.24002e-07	0.000602	1	0
HRNR	388697	broad.mit.edu	37	1	152191355	152191355	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:152191355G>A	ENST00000368801.2	-	3	2825	c.2750C>T	c.(2749-2751)tCc>tTc	p.S917F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	917					keratinization		calcium ion binding|protein binding	p.S917F(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)			GCCACTGCTGGAAGACCGACC	0.627000													16	421					0	0	0.006122	0	0
CLDN9	9080	broad.mit.edu	37	16	3063924	3063924	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr16:3063924G>A	ENST00000445369.2	+	1	1468	c.561G>A	c.(559-561)ccG>ccA	p.P187P		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	187					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.P187P(1)		endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						CGTGCCCCCCGCCCCAGGTCG	0.721000													45	41					0	0	0.003610	0	0
TSC22D4	81628	broad.mit.edu	37	7	100071909	100071909	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:100071909C>T	ENST00000300181.2	-	3	1671	c.917G>A	c.(916-918)aGc>aAc	p.S306N	TSC22D4_ENST00000496728.1_5'UTR|TSC22D4_ENST00000393991.1_Missense_Mutation_p.S67N	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	306					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	p.S306N(1)		breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATCATCGTCGCTGTCTAGGTG	0.607000													5	56					0	0	0.000602	0	0
CYP4V2	285440	broad.mit.edu	37	4	187130045	187130045	+	Missense_Mutation	SNP	G	G	C	rs58584561		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:187130045G>C	ENST00000378802.4	+	9	1421	c.1117G>C	c.(1117-1119)Gaa>Caa	p.E373Q	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	373					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.E373Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		CGCTACAGTAGAAGACCTGAA	0.458000													39	77					0	0	0.005524	0	0
SLFN13	146857	broad.mit.edu	37	17	33768061	33768061	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:33768061T>C	ENST00000285013.6	-	6	2522	c.2247A>G	c.(2245-2247)atA>atG	p.I749M	SLFN13_ENST00000542635.1_Missense_Mutation_p.I749M|SLFN13_ENST00000526861.1_Missense_Mutation_p.I749M|SLFN13_ENST00000360502.2_Missense_Mutation_p.I431M|SLFN13_ENST00000534689.1_Missense_Mutation_p.I431M|SLFN13_ENST00000533791.1_Missense_Mutation_p.I749M	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	749						intracellular	ATP binding	p.I749M(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GAGGATTTTCTATAATTAGTT	0.413000													40	143					0	0	0.005524	0	0
ABCB1	5243	broad.mit.edu	37	7	87179246	87179246	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:87179246C>A	ENST00000265724.3	-	14	1892	c.1475G>T	c.(1474-1476)cGt>cTt	p.R492L	ABCB1_ENST00000543898.1_Missense_Mutation_p.R428L	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	492	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.R492L(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GACATTTTCACGGCCATAGCG	0.438000													80	183					2.17451e-35	3.58632e-35	0.003610	1	0
RP1L1	94137	broad.mit.edu	37	8	10466457	10466457	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:10466457G>A	ENST00000382483.3	-	4	5374	c.5151C>T	c.(5149-5151)ccC>ccT	p.P1717P		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1717					intracellular signal transduction			p.P1717P(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TAGTGCTCGTGGGGTCCGTGT	0.657000													29	99					0	0	0.008361	0	0
BPIFB4	149954	broad.mit.edu	37	20	31692679	31692679	+	Splice_Site	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:31692679G>T	ENST00000375483.3	+	14	1744	c.1744_splice	c.e14+1	p.A582_splice	BPIFB4_ENST00000494121.1_3'UTR	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	582						cytoplasm|extracellular region	lipid binding	p.A543S(1)									CGCAATGAACGGTGAGAGCGG	0.567000													28	45					3.73988e-18	5.56575e-18	0.006320	1	0
METAP1	23173	broad.mit.edu	37	4	99962203	99962203	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:99962203G>A	ENST00000296411.6	+	6	576	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	METAP1_ENST00000544031.1_Missense_Mutation_p.E98K	NM_015143.2	NP_055958.2	P53582	AMPM1_HUMAN	methionyl aminopeptidase 1	148					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	p.E148K(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		GCTTGCTAGAGAAGTTTTGGA	0.353000													7	15					0	0	0.003080	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900674	151900674	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:151900674A>C	ENST00000393900.3	-	3	480	c.127T>G	c.(127-129)Tct>Gct	p.S43A	MAGEA12_ENST00000357916.4_Missense_Mutation_p.S43A|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.S43A	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	43	Poly-Ser.							p.S43A(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					ACTAGAGTAGAGGAGGAGGAG	0.637000													14	70					0	0	0.003163	0	0
MYH2	4620	broad.mit.edu	37	17	10427854	10427854	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:10427854C>G	ENST00000245503.5	-	35	5488	c.5104G>C	c.(5104-5106)Gag>Cag	p.E1702Q	MYH2_ENST00000397183.2_Missense_Mutation_p.E1702Q|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1702					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E1702Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTGCTCCTCTCTGTCTGTTCC	0.577000													35	55					0	0	0.003755	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717255	222717255	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:222717255C>A	ENST00000343410.6	-	2	656	c.598G>T	c.(598-600)Gat>Tat	p.D200Y		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	200					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.D200Y(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCCTGAGGATCTTGGGCCACC	0.612000													13	65					7.03913e-09	8.81386e-09	0.001368	1	0
SIGLEC8	27181	broad.mit.edu	37	19	51958820	51958820	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:51958820G>T	ENST00000321424.3	-	4	969	c.903C>A	c.(901-903)acC>acA	p.T301T	SIGLEC8_ENST00000430817.1_Silent_p.T192T|SIGLEC8_ENST00000340550.5_Silent_p.T208T	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	301	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	p.T301T(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGGGGCACAGGGTCAGGCTCC	0.632000													28	25					2.12542e-12	2.87729e-12	0.006320	1	0
ZNF80	7634	broad.mit.edu	37	3	113955154	113955154	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:113955154G>A	ENST00000482457.2	-	1	1271	c.768C>T	c.(766-768)taC>taT	p.Y256Y		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	256						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y256Y(1)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				AAGCAGAGTGGTAGCCAAAGT	0.408000													12	81					0	0	0.001368	0	0
SLC12A3	6559	broad.mit.edu	37	16	56904030	56904030	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr16:56904030C>T	ENST00000438926.2	+	5	653	c.624C>T	c.(622-624)tcC>tcT	p.S208S	SLC12A3_ENST00000566786.1_Silent_p.S207S|SLC12A3_ENST00000563236.1_Silent_p.S208S|SLC12A3_ENST00000262502.5_Silent_p.S207S	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	208					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	p.S208S(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCCTCATCTCCCGGAGTCTGG	0.627000													5	89					0	0	0.001168	0	0
EVC2	132884	broad.mit.edu	37	4	5624461	5624461	+	Silent	SNP	C	C	A	rs139936564	byFrequency	TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:5624461C>A	ENST00000310917.2	-	14	2795	c.2064G>T	c.(2062-2064)gtG>gtT	p.V688V	EVC2_ENST00000344938.1_Silent_p.V768V|EVC2_ENST00000344408.5_Silent_p.V768V	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	768						integral to membrane		p.V768V(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						AGAGCCAGGGCACCCCACGCT	0.647000													10	37					0.000978159	0.00105967	0.000978	1	0
MADD	8567	broad.mit.edu	37	11	47330186	47330186	+	Silent	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:47330186A>T	ENST00000342922.4	+	23	4047	c.3690A>T	c.(3688-3690)gcA>gcT	p.A1230A	MADD_ENST00000402799.1_Silent_p.A1187A|MADD_ENST00000405573.2_Silent_p.A78A|MADD_ENST00000407859.3_Silent_p.A1207A|MADD_ENST00000402192.2_Silent_p.A1229A|MADD_ENST00000406482.1_Silent_p.A1187A|MADD_ENST00000395344.3_Silent_p.A1183A|MADD_ENST00000349238.3_Silent_p.A1250A|MADD_ENST00000311027.5_Silent_p.A1268A|MADD_ENST00000395336.3_Silent_p.A1268A	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1268	Ser-rich.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	p.A1268A(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AGAAGCTGGCAGGCAGCCCCA	0.512000													14	71					0	0	0.003163	0	0
PCDH15	65217	broad.mit.edu	37	10	55944963	55944963	+	Silent	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:55944963A>T	ENST00000373965.2	-	13	1786	c.1392T>A	c.(1390-1392)acT>acA	p.T464T	PCDH15_ENST00000373957.3_Silent_p.T435T|PCDH15_ENST00000395432.2_Silent_p.T420T|PCDH15_ENST00000361849.3_Silent_p.T457T|PCDH15_ENST00000414778.1_Silent_p.T462T|PCDH15_ENST00000320301.6_Silent_p.T457T|PCDH15_ENST00000409834.1_Silent_p.T68T|PCDH15_ENST00000395438.1_Silent_p.T457T|PCDH15_ENST00000395433.1_Silent_p.T435T|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Silent_p.T457T|PCDH15_ENST00000395446.1_Silent_p.T457T|PCDH15_ENST00000373955.1_Silent_p.T457T|PCDH15_ENST00000437009.1_Silent_p.T457T|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Silent_p.T464T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	457	Cadherin 4.				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.T462T(2)|p.T457T(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)				GAGTAATACCAGTCTGTGTGA	0.398000										HNSCC(58;0.16)			27	50					0	0	0.002096	0	0
AKAP9	10142	broad.mit.edu	37	7	91691630	91691630	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:91691630G>T	ENST00000359028.2	+	25	6068	c.5843G>T	c.(5842-5844)aGg>aTg	p.R1948M	AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000358100.2_Missense_Mutation_p.R1948M|AKAP9_ENST00000356239.3_Missense_Mutation_p.R1936M			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1948	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.R1936M(1)|p.R1948M(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTTTTGAAAGGCAAATTCAG	0.348000			T	BRAF	papillary thyroid								18	119					1.45105e-14	2.03608e-14	0.006122	1	0
TIAM2	26230	broad.mit.edu	37	6	155450561	155450561	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:155450561T>A	ENST00000461783.3	+	6	1477	c.204T>A	c.(202-204)ttT>ttA	p.F68L	TIAM2_ENST00000360366.4_Missense_Mutation_p.F68L|TIAM2_ENST00000456144.1_Missense_Mutation_p.F68L|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Missense_Mutation_p.F68L|TIAM2_ENST00000318981.5_Missense_Mutation_p.F68L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	68					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.F68L(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)		TTTCTCACTTTAAGAGTAACC	0.547000													23	18					0	0	0.003954	0	0
COL1A2	1278	broad.mit.edu	37	7	94039100	94039100	+	Silent	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:94039100T>C	ENST00000297268.6	+	19	1473	c.1002T>C	c.(1000-1002)ggT>ggC	p.G334G		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	334			G -> C (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.G334G(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GCCCTGTTGGTGCTGCCGGTG	0.567000										HNSCC(75;0.22)			13	64					0	0	0.001368	0	0
DOK2	9046	broad.mit.edu	37	8	21766921	21766921	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:21766921G>T	ENST00000276420.4	-	5	1398	c.1140C>A	c.(1138-1140)ggC>ggA	p.G380G	DOK2_ENST00000544659.1_Silent_p.G226G	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	380					blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	p.G380G(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		CATGCTGGAGGCCAGCAGGGT	0.617000													15	52					2.32078e-09	2.96899e-09	0.003163	1	0
JMY	133746	broad.mit.edu	37	5	78612080	78612080	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:78612080G>C	ENST00000396137.4	+	10	3379	c.2917G>C	c.(2917-2919)Gag>Cag	p.E973Q	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	973					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	p.E973Q(1)|p.E619Q(1)		endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		AGCATCCCCAGAGTCAGAGGA	0.433000													4	9					0	0	0.009096	0	0
STIL	6491	broad.mit.edu	37	1	47746387	47746387	+	Silent	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:47746387T>A	ENST00000360380.3	-	13	2106	c.1743A>T	c.(1741-1743)tcA>tcT	p.S581S	STIL_ENST00000337817.5_Silent_p.S581S|STIL_ENST00000371877.3_Silent_p.S581S|STIL_ENST00000243182.6_Silent_p.S581S|STIL_ENST00000396221.2_Silent_p.S581S			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	581					cell proliferation|multicellular organismal development	centrosome|cytosol		p.S581S(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TTGGTCTTCCTGAATTATGGG	0.438000													37	105					0	0	0.003755	0	0
GSG2	83903	broad.mit.edu	37	17	3629369	3629369	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:3629369G>C	ENST00000325418.4	+	1	2159	c.2140G>C	c.(2140-2142)Gac>Cac	p.D714H	ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	714	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	p.D714H(1)									GTTTACCGGTGACGGTGACTA	0.473000													8	71					0	0	0.003080	0	0
C6orf118	168090	broad.mit.edu	37	6	165715189	165715189	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:165715189C>T	ENST00000543069.1	-	2	891	c.310G>A	c.(310-312)Gga>Aga	p.G104R	C6orf118_ENST00000230301.8_Missense_Mutation_p.G208R			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	208								p.G208R(1)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CTGGTGGCTCCGGCCAGGTAG	0.602000													35	25					0	0	0.003271	0	0
NEB	4703	broad.mit.edu	37	2	152466584	152466584	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:152466584G>T	ENST00000397345.3	-	81	12271	c.12069C>A	c.(12067-12069)gcC>gcA	p.A4023A	NEB_ENST00000604864.1_Silent_p.A4023A|NEB_ENST00000603639.1_Silent_p.A4023A|NEB_ENST00000427231.2_Silent_p.A4023A|NEB_ENST00000172853.10_Silent_p.A3780A|NEB_ENST00000409198.1_Silent_p.A3780A	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	4022					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.Q4024K(1)|p.Q3781K(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAATGCTCTGGGCTCCAATGT	0.408000													21	20					1.55795e-14	2.18261e-14	0.001882	1	0
LOC100129781	100129781	broad.mit.edu	37	16	14403171	14403171	+	RNA	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr16:14403171G>T	ENST00000570945.1	+	0	310				MIR365A_ENST00000362260.1_RNA																							ACTTTTGGGGGCAGATGTGTT	0.483000													37	32					1.47244e-24	2.31609e-24	0.006230	1	0
PAPPA	5069	broad.mit.edu	37	9	118950340	118950340	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:118950340C>A	ENST00000328252.3	+	2	1692	c.1323C>A	c.(1321-1323)cgC>cgA	p.R441R		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	441	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.R441R(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGGATTGCCGCCACCTGCGCC	0.587000													12	16					2.27111e-07	2.70939e-07	0.001368	1	0
RCOR1	23186	broad.mit.edu	37	14	103187709	103187709	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:103187709T>G	ENST00000262241.6	+	10	1410	c.1184T>G	c.(1183-1185)gTa>gGa	p.V395G	RCOR1_ENST00000570597.1_Missense_Mutation_p.V392G	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	392	SANT 2.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	p.V392G(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CTTCTCGCCGTACAAGGTAGG	0.448000													11	13					0	0	0.000978	0	0
KANSL1L	151050	broad.mit.edu	37	2	210968932	210968932	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:210968932C>A	ENST00000281772.9	-	4	1587	c.1324G>T	c.(1324-1326)Ggg>Tgg	p.G442W	KANSL1L_ENST00000457374.1_Missense_Mutation_p.G442W|KANSL1L_ENST00000452086.1_Missense_Mutation_p.G442W|KANSL1L_ENST00000418791.1_Missense_Mutation_p.G442W	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	442								p.G442W(1)									TGAGGATTCCCTAGAATGTTT	0.413000													15	28					3.27435e-08	3.99797e-08	0.002450	1	0
FUT8	2530	broad.mit.edu	37	14	66082969	66082969	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:66082969A>C	ENST00000360689.5	+	5	2087	c.360A>C	c.(358-360)gaA>gaC	p.E120D	FUT8_ENST00000557164.1_5'UTR|FUT8_ENST00000358307.2_5'UTR|FUT8_ENST00000394586.2_Missense_Mutation_p.E120D|FUT8_ENST00000394585.1_Missense_Mutation_p.E120D	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	120					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	p.E120D(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GGAGGATTGAAAATGGAGCTA	0.363000													12	61					0	0	0.001368	0	0
OR2G3	81469	broad.mit.edu	37	1	247769494	247769494	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:247769494A>T	ENST00000320002.2	+	1	639	c.607A>T	c.(607-609)Agt>Tgt	p.S203C	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S203C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTTTGTTGTTAGTGTTCTGTT	0.448000													28	99					0	0	0.006320	0	0
PRKDC	5591	broad.mit.edu	37	8	48772259	48772259	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:48772259C>G	ENST00000314191.2	-	47	6173	c.6117G>C	c.(6115-6117)atG>atC	p.M2039I	PRKDC_ENST00000338368.3_Missense_Mutation_p.M2039I|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2040					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.M2040I(1)|p.M2039I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CAAATTGACTCATTTCCTCAC	0.423000								Non-homologous end-joining					6	96					0	0	0.001168	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290686	141290686	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:141290686C>A	ENST00000247452.3	-	3	1435	c.1088G>T	c.(1087-1089)aGt>aTt	p.S363I		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	363						cytoplasm|nucleus		p.S363I(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GGACATGACACTGAGGCTTTC	0.493000										HNSCC(46;0.14)			31	47					1.17478e-05	1.34001e-05	0.003271	1	0
MARCO	8685	broad.mit.edu	37	2	119739773	119739773	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:119739773G>C	ENST00000541757.1	+	12	1089	c.709G>C	c.(709-711)Gtg>Ctg	p.V237L	MARCO_ENST00000327097.4_Missense_Mutation_p.V315L			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	315	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.V315L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TCCTGGTGCAGTGGGACACCC	0.637000													27	34					0	0	0.004656	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39086814	39086814	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:39086814G>A	ENST00000297668.6	-	20	3326	c.3253C>T	c.(3253-3255)Cat>Tat	p.H1085Y	CNTNAP3_ENST00000377656.2_Missense_Mutation_p.H1004Y|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.H997Y	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	1085	Laminin G-like 4.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	p.H1085Y(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGATTTTGATGTCTATCTAGC	0.323000													16	33					0	0	0.006122	0	0
CAND2	23066	broad.mit.edu	37	3	12856744	12856744	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:12856744C>A	ENST00000456430.2	+	8	1152	c.1111C>A	c.(1111-1113)Ccc>Acc	p.P371T	CAND2_ENST00000295989.5_Missense_Mutation_p.P278T	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	371					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.P278N(1)|p.P371N(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGACCTGCTGCCCGATTTCCA	0.592000													39	29					6.99958e-10	9.04624e-10	0.006999	1	0
EGF	1950	broad.mit.edu	37	4	110925712	110925712	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:110925712C>G	ENST00000265171.5	+	22	3670	c.3225C>G	c.(3223-3225)agC>agG	p.S1075R	EGF_ENST00000503392.1_Missense_Mutation_p.S1034R|EGF_ENST00000509793.1_Missense_Mutation_p.S1033R	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1075					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	p.S1075R(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AGGAGTCGAGCAGAGATGTGA	0.453000													38	55					0	0	0.004289	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121624102	121624102	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:121624102G>T	ENST00000393386.2	+	8	1270	c.859G>T	c.(859-861)Gag>Tag	p.E287*	PTPRZ1_ENST00000449182.1_Nonsense_Mutation_p.E287*	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	287	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.E287*(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAATTTTCGAGAGCAACAGTA	0.343000													27	90					1.26454e-06	1.4806e-06	0.005443	1	0
CHRNA4	1137	broad.mit.edu	37	20	61978135	61978135	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:61978135C>T	ENST00000370263.4	-	6	2060	c.1839G>A	c.(1837-1839)ggG>ggA	p.G613G	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	613					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.G613G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GGCCCACCGTCCCCAGCAGGC	0.647000													33	31					0	0	0.009535	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77393252	77393252	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr16:77393252C>A	ENST00000282849.5	-	8	1703	c.1285G>T	c.(1285-1287)Ggc>Tgc	p.G429C		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	429	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G429C(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						AAGGCAAGGCCAAGTCCTGTG	0.453000													15	14					1.02788e-11	1.37674e-11	0.004990	1	0
ELTD1	64123	broad.mit.edu	37	1	79404923	79404923	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:79404923G>T	ENST00000370742.3	-	4	409	c.346C>A	c.(346-348)Cat>Aat	p.H116N		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	116					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.H116N(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTATCTAAATGGCAGTTTGCA	0.249000													14	35					2.61681e-11	3.45263e-11	0.002450	1	0
UBR4	23352	broad.mit.edu	37	1	19482030	19482030	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:19482030A>C	ENST00000375267.2	-	43	6208	c.6205T>G	c.(6205-6207)Tac>Gac	p.Y2069D	UBR4_ENST00000375254.3_Missense_Mutation_p.Y2069D|UBR4_ENST00000375217.2_Missense_Mutation_p.Y2069D|UBR4_ENST00000375226.2_Missense_Mutation_p.Y2069D			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2069					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.Y2069D(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GTATAGATGTACCCAGCCGAA	0.433000													8	81					0	0	0.006214	0	0
CLCN4	1183	broad.mit.edu	37	X	10181855	10181855	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:10181855A>G	ENST00000380833.4	+	11	2102	c.1711A>G	c.(1711-1713)Atc>Gtc	p.I571V	CLCN4_ENST00000380829.1_Missense_Mutation_p.I540V|CLCN4_ENST00000421085.2_Missense_Mutation_p.I477V	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	571						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	p.I571V(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAAAGAAGGCATCTACGAGGC	0.567000													34	22					0	0	0.002836	0	0
OR4C46	119749	broad.mit.edu	37	11	51515322	51515322	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:51515322G>A	ENST00000328188.1	+	1	41	c.41G>A	c.(40-42)gGg>gAg	p.G14E		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G14E(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GTTTTGCTGGGGCTTACAGAG	0.333000													25	91					0	0	0.003954	0	0
PXDN	7837	broad.mit.edu	37	2	1653374	1653374	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:1653374G>T	ENST00000252804.4	-	17	2228	c.2178C>A	c.(2176-2178)caC>caA	p.H726Q		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	726					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.H726Q(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCACGCGCCGGTGGGCGGTAC	0.602000													28	76					2.4375e-19	3.67078e-19	0.007291	1	0
ZSWIM5	57643	broad.mit.edu	37	1	45506070	45506070	+	Nonsense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:45506070T>A	ENST00000359600.5	-	7	1955	c.1750A>T	c.(1750-1752)Aag>Tag	p.K584*		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	584							zinc ion binding	p.K584*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ATACCTTTCTTCTGATGCTTG	0.488000													13	113					0	0	0.002450	0	0
CCDC73	493860	broad.mit.edu	37	11	32676475	32676475	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:32676475G>T	ENST00000335185.5	-	10	732	c.689C>A	c.(688-690)aCa>aAa	p.T230K	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	230								p.T230K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					ATATTGACATGTGACTTTGGA	0.289000													8	23					0.000157383	0.000173259	0.003080	1	0
DCAF8L1	139425	broad.mit.edu	37	X	27999166	27999166	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:27999166C>A	ENST00000441525.1	-	1	400	c.286G>T	c.(286-288)Gag>Tag	p.E96*		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	96	Glu-rich.							p.E96*(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TCTGTCTCCTCTCCCACTAAC	0.498000													51	44					4.86159e-25	7.6881e-25	0.003610	1	0
DACH1	1602	broad.mit.edu	37	13	72134027	72134027	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr13:72134027T>A	ENST00000305425.4	-	5	1788	c.1366A>T	c.(1366-1368)Agt>Tgt	p.S456C	DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.S508C	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	506					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	p.S456C(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GATGGGTGACTGCCAGGCCTT	0.567000													9	14					0	0	0.008291	0	0
OR9A4	130075	broad.mit.edu	37	7	141618891	141618891	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:141618891C>T	ENST00000548136.1	+	1	275	c.216C>T	c.(214-216)gtC>gtT	p.V72V	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V72V(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					AGATCCTGGTCACAACCATAA	0.502000													13	136					0	0	0.001855	0	0
MYH1	4619	broad.mit.edu	37	17	10419268	10419268	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:10419268G>T	ENST00000226207.5	-	5	574	c.480C>A	c.(478-480)gaC>gaA	p.D160E	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	160	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.D160E(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						GATAGGCATTGTCAGAGATGG	0.453000													100	118					1.66795e-42	2.77677e-42	0.003610	1	0
COL28A1	340267	broad.mit.edu	37	7	7412926	7412926	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:7412926G>C	ENST00000399429.3	-	32	2751	c.2611C>G	c.(2611-2613)Ctg>Gtg	p.L871V		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	871	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	p.L871V(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCTTCCCCCAGATACTGCATG	0.478000													5	119					0	0	0.000602	0	0
CEP152	22995	broad.mit.edu	37	15	49085535	49085535	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:49085535T>C	ENST00000380950.2	-	7	1002	c.815A>G	c.(814-816)cAg>cGg	p.Q272R	CEP152_ENST00000399334.3_Missense_Mutation_p.Q272R|CEP152_ENST00000325747.5_Missense_Mutation_p.Q179R	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	272					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	p.Q272R(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TATTACAAGCTGGTGATTCAG	0.338000													9	35					0	0	0.008291	0	0
POLG	5428	broad.mit.edu	37	15	89865046	89865046	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:89865046A>G	ENST00000268124.5	-	16	2852	c.2519T>C	c.(2518-2520)aTc>aCc	p.I840T	POLG_ENST00000442287.2_Missense_Mutation_p.I840T	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	840					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	p.I840T(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TTGGGGCAGGATGGCCCCATA	0.617000								DNA polymerases (catalytic subunits)					11	54					0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179467007	179467007	+	Splice_Site	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:179467007A>G	ENST00000589042.1	-	283	55345		c.e283+1		TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Splice_Site|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Splice_Site|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Splice_Site	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.?(5)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGTACTAGTACCTTGAATAT	0.348000													5	83					0	0	0.000602	0	0
RAD54L2	23132	broad.mit.edu	37	3	51696624	51696624	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:51696624A>C	ENST00000409535.1	+	22	3717	c.3592A>C	c.(3592-3594)Acc>Ccc	p.T1198P	RAD54L2_ENST00000296477.3_Missense_Mutation_p.T892P	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1198						nucleus	ATP binding|DNA binding|helicase activity	p.S1197_T1198>RP(1)		NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CTCCCCAAGCACCAATGCCGC	0.632000													7	52					0	0	0.001984	0	0
GNAT2	2780	broad.mit.edu	37	1	110146652	110146652	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:110146652G>T	ENST00000351050.3	-	7	981	c.795C>A	c.(793-795)gtC>gtA	p.V265V		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	265					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity	p.V265V(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TGAGAAAGAGGACAATGGAAG	0.403000													11	58					2.27111e-07	2.70939e-07	0.001368	1	0
TSHZ2	128553	broad.mit.edu	37	20	51872088	51872088	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:51872088C>A	ENST00000371497.5	+	2	2978	c.2091C>A	c.(2089-2091)gcC>gcA	p.A697A	TSHZ2_ENST00000329613.6_Silent_p.A694A|TSHZ2_ENST00000603338.2_Silent_p.A694A	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	697					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A697A(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CACTCAGCGCCCTGCAGTCCG	0.612000													5	73					0.00198382	0.00212569	0.001984	1	0
RANBP2	5903	broad.mit.edu	37	2	109381301	109381301	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:109381301A>G	ENST00000283195.6	+	20	4432	c.4306A>G	c.(4306-4308)Att>Gtt	p.I1436V		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1436					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	p.I1436V(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATCTAGGTGCATTGCGTGTCA	0.363000													28	63					0	0	0.004656	0	0
HTR3E	285242	broad.mit.edu	37	3	183818183	183818183	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:183818183G>T	ENST00000335304.2	+	1	217	c.23G>T	c.(22-24)cGg>cTg	p.R8L	HTR3E_ENST00000436361.2_Missense_Mutation_p.R8L|HTR3E_ENST00000425359.2_Intron|HTR3E_ENST00000415389.2_Intron|HTR3E_ENST00000440596.2_Missense_Mutation_p.R8L|HTR3E-AS1_ENST00000431427.1_RNA	NM_182589.2|NM_198314.2	NP_872395.2|NP_938056.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	0						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.R8L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			attTTATCACGGGCGACCCCA	0.493000													41	159					4.14481e-20	6.28475e-20	0.006230	1	0
CHD7	55636	broad.mit.edu	37	8	61653994	61653994	+	Translation_Start_Site	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:61653994G>T	ENST00000423902.2	+	2	482	c.3G>T	c.(1-3)atG>atT	p.M1I	CHD7_ENST00000525508.1_Start_Codon_SNP_p.M1I|CHD7_ENST00000524602.1_Start_Codon_SNP_p.M1I	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.M1I(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGAAGAAGATGGCAGATCCAG	0.478000													3	15					0.00909568	0.00956074	0.009096	1	0
EPHA3	2042	broad.mit.edu	37	3	89445102	89445102	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:89445102C>A	ENST00000336596.2	+	6	1647	c.1422C>A	c.(1420-1422)taC>taA	p.Y474*	EPHA3_ENST00000452448.2_Nonsense_Mutation_p.Y474*|EPHA3_ENST00000494014.1_Nonsense_Mutation_p.Y474*	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	474	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding	p.Y474*(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AGGTCAAATACTATGAAAAGG	0.438000										TSP Lung(6;0.00050)			38	55					4.92203e-23	7.67385e-23	0.006230	1	0
FTSJ1	24140	broad.mit.edu	37	X	48339578	48339578	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:48339578A>C	ENST00000019019.2	+	7	830	c.401A>C	c.(400-402)cAg>cCg	p.Q134P	FTSJ1_ENST00000348411.2_Missense_Mutation_p.Q134P|FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000396894.4_Intron|FTSJ1_ENST00000456787.1_Missense_Mutation_p.Q134P	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN	FtsJ RNA methyltransferase homolog 1 (E. coli)	134					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding	p.Q134P(1)		breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						ATGCAGGCCCAGCTCCTCCTA	0.592000													15	14					0	0	0.004007	0	0
ZNF648	127665	broad.mit.edu	37	1	182026579	182026579	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:182026579C>A	ENST00000339948.3	-	2	774	c.567G>T	c.(565-567)ctG>ctT	p.L189L		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L189L(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GGAAACACAACAGAGAAGAGT	0.612000													4	28					0.00909568	0.00956074	0.009096	1	0
GAL3ST4	79690	broad.mit.edu	37	7	99757918	99757918	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:99757918A>T	ENST00000360039.4	-	4	1486	c.1094T>A	c.(1093-1095)cTg>cAg	p.L365Q	GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.L365Q|GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.L303Q	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	365					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	p.L365Q(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCCCAGTCCAGGTTGTTCCA	0.637000													5	67					0	0	0.001168	0	0
RNF212	285498	broad.mit.edu	37	4	1073435	1073435	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:1073435C>A	ENST00000382968.5	-	8	603	c.506G>T	c.(505-507)aGa>aTa	p.R169I	RNF212_ENST00000433731.2_Missense_Mutation_p.R169I	NM_001131034.3|NM_194439.4	NP_001124506.1|NP_919420.1	Q495C1	RN212_HUMAN	ring finger protein 212	169							zinc ion binding	p.R169I(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		ACTTACTTTTCTAATCGGAGA	0.453000													19	95					1.67942e-08	2.07637e-08	0.006122	1	0
PUM1	9698	broad.mit.edu	37	1	31532281	31532281	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:31532281G>C	ENST00000373747.3	-	2	232	c.133C>G	c.(133-135)Caa>Gaa	p.Q45E	PUM1_ENST00000440538.2_Missense_Mutation_p.Q45E|PUM1_ENST00000257075.5_Missense_Mutation_p.Q45E|PUM1_ENST00000423018.2_Missense_Mutation_p.Q45E|PUM1_ENST00000426105.2_Missense_Mutation_p.Q45E|PUM1_ENST00000424085.2_Missense_Mutation_p.Q45E|PUM1_ENST00000373742.2_Missense_Mutation_p.Q81E|PUM1_ENST00000373741.4_Missense_Mutation_p.Q81E	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	45					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	p.Q45E(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GGCTGCGCTTGCGACCCTGTT	0.552000													6	92					0	0	0.001168	0	0
PLAA	9373	broad.mit.edu	37	9	26928119	26928119	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:26928119T>C	ENST00000397292.3	-	4	961	c.544A>G	c.(544-546)Aga>Gga	p.R182G	PLAA_ENST00000520884.1_Missense_Mutation_p.R182G	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	182					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	p.R125G(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		CTCTCACATCTTCCAGCCTTC	0.403000													9	58					0	0	0.006214	0	0
GAD2	2572	broad.mit.edu	37	10	26508011	26508011	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:26508011C>A	ENST00000376261.3	+	4	829	c.326C>A	c.(325-327)gCg>gAg	p.A109E	GAD2_ENST00000259271.3_Missense_Mutation_p.A109E|GAD2_ENST00000376248.1_5'UTR	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	109					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.A109E(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CCCACTTTGGCGTTTCTGCAA	0.363000													31	45					1.74807e-11	2.32375e-11	0.002096	1	0
ATR	545	broad.mit.edu	37	3	142224081	142224081	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:142224081T>G	ENST00000350721.4	-	29	5217	c.5096A>C	c.(5095-5097)gAa>gCa	p.E1699A	ATR_ENST00000383101.3_Missense_Mutation_p.E1635A	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1699	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.E1699A(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TAGAGATGGTTCTGCCTTTCT	0.423000								Other conserved DNA damage response genes					112	109					0	0	0.003610	0	0
DOCK5	80005	broad.mit.edu	37	8	25209284	25209284	+	Missense_Mutation	SNP	G	G	T	rs139516143	by1000genomes	TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:25209284G>T	ENST00000276440.7	+	27	2836	c.2792G>T	c.(2791-2793)cGg>cTg	p.R931L		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	931						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.R931L(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)		ATAATGGAACGGCTGCTGAGA	0.512000													6	26					3.59834e-05	4.04184e-05	0.001168	1	0
LRIT1	26103	broad.mit.edu	37	10	85993978	85993978	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:85993978C>A	ENST00000372105.3	-	3	767	c.746G>T	c.(745-747)aGg>aTg	p.R249M		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	249	LRRCT.					integral to endoplasmic reticulum membrane		p.R249M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CTGGCACTTCCTCAGTTCAAG	0.607000													16	60					1.3612e-06	1.58957e-06	0.003163	1	0
XKR9	389668	broad.mit.edu	37	8	71646054	71646054	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:71646054T>A	ENST00000408926.3	+	5	1051	c.517T>A	c.(517-519)Tgt>Agt	p.C173S	XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.C173S	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	173						integral to membrane		p.C173S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GGTCTCTTGCTGTGCTATTTC	0.308000													11	47					0	0	0.008291	0	0
CCDC155	147872	broad.mit.edu	37	19	49898410	49898410	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:49898410G>A	ENST00000447857.3	+	4	401	c.196G>A	c.(196-198)Ggc>Agc	p.G66S		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	66						integral to membrane	calcium ion binding	p.G66S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GGCTGTGACAGGCCAGGGCCC	0.637000													12	21					0	0	0.001368	0	0
MAPK4	5596	broad.mit.edu	37	18	48252469	48252469	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr18:48252469G>T	ENST00000400384.2	+	5	2027	c.991G>T	c.(991-993)Gag>Tag	p.E331*	MAPK4_ENST00000540640.1_Nonsense_Mutation_p.E120*|MAPK4_ENST00000592595.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	331					cell cycle		ATP binding|MAP kinase activity	p.E331*(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CTTCCGCATTGAGGATGAGAT	0.597000													5	58					0.000602214	0.000654806	0.000602	1	0
COL24A1	255631	broad.mit.edu	37	1	86200648	86200648	+	Splice_Site	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:86200648C>A	ENST00000370571.2	-	59	5149		c.e59-1		COL24A1_ENST00000436319.1_Splice_Site	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1						cell adhesion	collagen	extracellular matrix structural constituent	p.?(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CAAACTCCAACTAATGTCATA	0.418000													13	23					0.00136819	0.00147318	0.001368	1	0
OR4M2	390538	broad.mit.edu	37	15	22368867	22368867	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:22368867A>T	ENST00000332663.2	+	1	390	c.292A>T	c.(292-294)Att>Ttt	p.I98F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I98F(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGATGGATGCATTGCACAGCT	0.458000													56	807					0	0	0.003610	0	0
SYNPO2	171024	broad.mit.edu	37	4	119944675	119944675	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:119944675T>A	ENST00000307142.4	+	2	392	c.196T>A	c.(196-198)Tac>Aac	p.Y66N	SYNPO2_ENST00000434046.2_Missense_Mutation_p.Y66N|SYNPO2_ENST00000448416.2_Missense_Mutation_p.Y66N|SYNPO2_ENST00000429713.2_Missense_Mutation_p.Y66N	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	66	PDZ.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.Y66N(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGATCTCACCTACCCTGAAGT	0.453000													29	34					0	0	0.009535	0	0
SLC25A3	5250	broad.mit.edu	37	12	98992384	98992384	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:98992384A>T	ENST00000188376.5	+	4	898	c.544A>T	c.(544-546)Atg>Ttg	p.M182L	SLC25A3_ENST00000551917.1_Missense_Mutation_p.M183L|SLC25A3_ENST00000552981.1_Missense_Mutation_p.M182L|SLC25A3_ENST00000401722.3_Missense_Mutation_p.M182L|SLC25A3_ENST00000228318.3_Missense_Mutation_p.M183L|SLC25A3_ENST00000549338.1_Missense_Mutation_p.M182L|SLC25A3_ENST00000548847.1_Missense_Mutation_p.M182L	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	183					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity	p.M183L(2)|p.M182L(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		CCTGGCTCCTATGGAAGCTGC	0.458000													30	40					0	0	0.008361	0	0
DNAH8	1769	broad.mit.edu	37	6	38790760	38790760	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:38790760T>A	ENST00000359357.3	+	25	3273	c.3019T>A	c.(3019-3021)Ttt>Att	p.F1007I	DNAH8_ENST00000449981.2_Missense_Mutation_p.F1224I|DNAH8_ENST00000441566.1_Missense_Mutation_p.F1007I					dynein, axonemal, heavy chain 8									p.F1007I(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTGCAGGACTTTCAGAAGTA	0.473000													36	21					0	0	0.006999	0	0
ABCC9	10060	broad.mit.edu	37	12	21958120	21958120	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:21958120C>G	ENST00000261201.4	-	38	4637	c.4638G>C	c.(4636-4638)atG>atC	p.M1546I	ABCC9_ENST00000345162.2_Missense_Mutation_p.M1510I|ABCC9_ENST00000261200.4_Intron	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1546	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.M1546I(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACTTGTTGGTCATCACCAAAG	0.438000													5	76					0	0	0.001168	0	0
ZNF800	168850	broad.mit.edu	37	7	127013766	127013766	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:127013766G>A	ENST00000393313.1	-	5	2215	c.1624C>T	c.(1624-1626)Cat>Tat	p.H542Y	ZNF800_ENST00000265827.3_Missense_Mutation_p.H542Y|ZNF800_ENST00000393312.1_Missense_Mutation_p.H542Y			Q2TB10	ZN800_HUMAN	zinc finger protein 800	542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H542Y(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GACTTTTTATGAACCACAGTT	0.338000													20	73					0	0	0.001882	0	0
DIAPH2	1730	broad.mit.edu	37	X	96200587	96200587	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:96200587G>C	ENST00000324765.8	+	14	1853	c.1506G>C	c.(1504-1506)aaG>aaC	p.K502N	DIAPH2_ENST00000373049.4_Missense_Mutation_p.K502N|DIAPH2_ENST00000373061.3_Missense_Mutation_p.K502N|DIAPH2_ENST00000373054.4_Missense_Mutation_p.K498N|DIAPH2_ENST00000355827.4_Missense_Mutation_p.K502N			O60879	DIAP2_HUMAN	diaphanous-related formin 2	502					cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	p.K502N(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AGTTTTCAAAGAAGGTAAGCT	0.303000													22	21					0	0	0.010504	0	0
PRR16	51334	broad.mit.edu	37	5	120022181	120022181	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:120022181T>C	ENST00000379551.2	+	3	980	c.623T>C	c.(622-624)gTc>gCc	p.V208A	PRR16_ENST00000446965.1_Missense_Mutation_p.V161A|PRR16_ENST00000407149.2_Missense_Mutation_p.V231A|PRR16_ENST00000505123.1_Missense_Mutation_p.V161A	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	231	Pro-rich.							p.V208A(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AACAGGGAGGTCCACTTACAC	0.507000													13	35					0	0	0.001855	0	0
JAK1	3716	broad.mit.edu	37	1	65300289	65300289	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:65300289T>A	ENST00000342505.4	-	25	3669	c.3421A>T	c.(3421-3423)Agc>Tgc	p.S1141C		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1141	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.S1141C(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TTCTGAAAGCTTGTCCGATTG	0.338000			Mis		ALL								17	55					0	0	0.008871	0	0
AHSP	51327	broad.mit.edu	37	16	31539839	31539839	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr16:31539839A>G	ENST00000302312.4	+	3	239	c.136A>G	c.(136-138)Aac>Gac	p.N46D	AHSP_ENST00000569954.1_3'UTR	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN	alpha hemoglobin stabilizing protein	46					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding	p.N46D(1)		lung(2)	2						GGACTGGATGAACTTCTACAT	0.547000													18	55					0	0	0.007413	0	0
NOVA1	4857	broad.mit.edu	37	14	26918112	26918112	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:26918112T>A	ENST00000539517.2	-	5	894	c.577A>T	c.(577-579)Act>Tct	p.T193S	NOVA1_ENST00000267422.7_Missense_Mutation_p.T71S|NOVA1_ENST00000465357.2_Missense_Mutation_p.T169S	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	196	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	p.T193S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GCCTTCACAGTAGCACCTCCC	0.433000													39	146					0	0	0.006230	0	0
NTRK3	4916	broad.mit.edu	37	15	88576157	88576157	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:88576157T>C	ENST00000394480.1	-	14	1837	c.1516A>G	c.(1516-1518)Act>Gct	p.T506A	NTRK3_ENST00000357724.2_Missense_Mutation_p.T498A|NTRK3_ENST00000355254.2_Missense_Mutation_p.T506A|NTRK3_ENST00000558676.1_Missense_Mutation_p.T498A|NTRK3_ENST00000557856.1_Missense_Mutation_p.T498A|NTRK3_ENST00000542733.2_Missense_Mutation_p.T408A|NTRK3_ENST00000540489.2_Missense_Mutation_p.T506A|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000360948.2_Missense_Mutation_p.T506A|NTRK3_ENST00000317501.3_Missense_Mutation_p.T506A	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	506					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.T506A(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)			GGGATGCGAGTCATGCCAATG	0.592000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			4	27					0	0	0.009096	0	0
GJA8	2703	broad.mit.edu	37	1	147381031	147381031	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:147381031C>G	ENST00000240986.4	+	2	1002	c.949C>G	c.(949-951)Caa>Gaa	p.Q317E	GJA8_ENST00000369235.1_Missense_Mutation_p.Q317E	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	317					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	p.Q317E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCGGGGCTACCAAGAGACACT	0.627000													6	34					0	0	0.001168	0	0
REG3A	5068	broad.mit.edu	37	2	79385781	79385781	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:79385781G>A	ENST00000393878.1	-	2	445	c.191C>T	c.(190-192)gCa>gTa	p.A64V	AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.A64V|REG3A_ENST00000409839.3_Missense_Mutation_p.A64V	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	64	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.A64V(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						ACTCACATCTGCATCTGTCCA	0.537000													36	52					0	0	0.003755	0	0
GRIN3A	116443	broad.mit.edu	37	9	104499662	104499662	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:104499662G>T	ENST00000361820.3	-	1	1200	c.600C>A	c.(598-600)ccC>ccA	p.P200P		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	200					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.P200P(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CCTGGCTCTGGGGGAAGGCGA	0.597000													15	20					6.31663e-08	7.68074e-08	0.003163	1	0
DNAH8	1769	broad.mit.edu	37	6	38919134	38919134	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:38919134T>A	ENST00000359357.3	+	80	11892	c.11638T>A	c.(11638-11640)Tat>Aat	p.Y3880N	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.Y4097N|DNAH8_ENST00000441566.1_Missense_Mutation_p.Y3844N					dynein, axonemal, heavy chain 8									p.Y3880N(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGCAAGAAAGTATATTGCAGA	0.378000													124	101					0	0	0.003610	0	0
FSCB	84075	broad.mit.edu	37	14	44974165	44974165	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:44974165C>T	ENST00000340446.4	-	1	2317	c.2026G>A	c.(2026-2028)Gag>Aag	p.E676K		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	676	Ala-rich.					cilium		p.E676K(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GGGGCCTCCTCAGCTGGTGGA	0.612000													14	21					0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179391982	179391982	+	Silent	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:179391982G>C	ENST00000589042.1	-	363	107957	c.107733C>G	c.(107731-107733)ggC>ggG	p.G35911G	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000591111.1_Silent_p.G34270G|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.G26971G|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.G26846G|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Silent_p.G27038G|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342992.6_Silent_p.G33343G|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000587568.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	34270							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G26971G(1)|p.G33343G(1)|p.G33341G(1)|p.G26846G(1)|p.G27038G(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAGAACTTTGCCTTCATCAA	0.418000													3	26					0	0	0.004672	0	0
NPHS1	4868	broad.mit.edu	37	19	36330257	36330257	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:36330257G>A	ENST00000378910.5	-	22	2990	c.2991C>T	c.(2989-2991)acC>acT	p.T997T	NPHS1_ENST00000353632.6_Silent_p.T997T	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	997	Fibronectin type-III.				cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.T997T(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCAGCGTGAAGGTGGTGGCCT	0.582000													8	101					0	0	0.006214	0	0
TMEM132A	54972	broad.mit.edu	37	11	60703723	60703723	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:60703723G>T	ENST00000005286.4	+	11	2572	c.2419G>T	c.(2419-2421)Ggt>Tgt	p.G807C	TMEM132A_ENST00000453848.2_Missense_Mutation_p.G806C	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	806	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		p.G807C(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GGGCAACACAGGTGTGAGGGG	0.647000													23	53					5.45024e-15	7.72117e-15	0.003330	1	0
TFAP4	7023	broad.mit.edu	37	16	4310143	4310143	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr16:4310143G>T	ENST00000204517.6	-	6	1098	c.770C>A	c.(769-771)tCg>tAg	p.S257*		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	257					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.S257*(1)		NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GTTGATGACCGAGGAGGGGCC	0.627000													83	67					3.7744e-50	6.36749e-50	0.003610	1	0
AKR1B10	57016	broad.mit.edu	37	7	134222393	134222393	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:134222393C>A	ENST00000359579.4	+	7	1041	c.721C>A	c.(721-723)Cac>Aac	p.H241N		NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	241					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	p.H241N(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						TGCTGCAAAGCACAAAAAAAC	0.453000													46	69					3.54909e-21	5.45634e-21	0.002852	1	0
ZWILCH	55055	broad.mit.edu	37	15	66832443	66832443	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:66832443C>T	ENST00000307897.5	+	17	1962	c.1582C>T	c.(1582-1584)Cca>Tca	p.P528S	ZWILCH_ENST00000535141.2_Missense_Mutation_p.P414S|ZWILCH_ENST00000565627.1_Missense_Mutation_p.P414S|ZWILCH_ENST00000446801.2_Missense_Mutation_p.P414S	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	528					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding	p.P528S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TAGTGAGAAGCCACAGAAATG	0.368000													8	22					0	0	0.003080	0	0
DAB1	1600	broad.mit.edu	37	1	57480986	57480986	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:57480986G>A	ENST00000371236.2	-	12	1277	c.1014C>T	c.(1012-1014)ccC>ccT	p.P338P	DAB1_ENST00000420954.2_Silent_p.P336P|DAB1_ENST00000439789.2_Silent_p.P252P|DAB1_ENST00000371231.1_Silent_p.P371P|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Silent_p.P338P|DAB1_ENST00000414851.2_Silent_p.P320P			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	371					cell differentiation|nervous system development			p.P338P(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CCCATGCGATGGGCTGAGCCC	0.662000													23	81					0	0	0.002780	0	0
OR4D9	390199	broad.mit.edu	37	11	59282749	59282749	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:59282749C>T	ENST00000329328.3	+	1	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122C(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						GGCGTTTGACCGCTATATAGC	0.527000													5	101					0	0	0.000602	0	0
GLRA4	441509	broad.mit.edu	37	X	102962361	102962361	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:102962361G>T	ENST00000372617.4	-	9	1585	c.1165C>A	c.(1165-1167)Cca>Aca	p.P389T		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	389						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.P389T(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CCTTCCATTGGACCTCCATCT	0.498000													9	31					0.000442599	0.000483631	0.006214	1	0
RAD54L2	23132	broad.mit.edu	37	3	51696623	51696623	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:51696623C>A	ENST00000409535.1	+	22	3716	c.3591C>A	c.(3589-3591)agC>agA	p.S1197R	RAD54L2_ENST00000296477.3_Missense_Mutation_p.S891R	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1197						nucleus	ATP binding|DNA binding|helicase activity	p.S1197_T1198>RP(1)		NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GCTCCCCAAGCACCAATGCCG	0.632000													7	51					0.00198382	0.00212569	0.001984	1	0
PIK3CG	5294	broad.mit.edu	37	7	106508033	106508033	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:106508033C>A	ENST00000359195.3	+	2	337	c.27C>A	c.(25-27)ccC>ccA	p.P9P	PIK3CG_ENST00000496166.1_Silent_p.P9P|PIK3CG_ENST00000440650.2_Silent_p.P9P	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	9					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.P9P(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ATAAACAGCCCGTGGTGCTGA	0.582000													16	69					3.99206e-14	5.56621e-14	0.007413	1	0
SLC4A2	6522	broad.mit.edu	37	7	150771574	150771574	+	Splice_Site	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:150771574A>G	ENST00000485713.1	+	18	3919	c.2880_splice	c.e18+1	p.Q960_splice	SLC4A2_ENST00000461735.1_Splice_Site_p.Q946_splice|SLC4A2_ENST00000392826.2_Splice_Site_p.Q951_splice|SLC4A2_ENST00000413384.2_Splice_Site_p.Q960_splice|SLC4A2_ENST00000310317.5_Splice_Site_p.Q878_splice	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	960	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	p.Q960R(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCTATACCCAGGTAAGGTGC	0.582000													8	71					0	0	0.003080	0	0
GPR133	283383	broad.mit.edu	37	12	131490582	131490582	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:131490582G>T	ENST00000261654.5	+	12	1880	c.1321G>T	c.(1321-1323)Gcc>Tcc	p.A441S	GPR133_ENST00000535015.1_Missense_Mutation_p.A473S|GPR133_ENST00000376682.4_Missense_Mutation_p.A127S	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	441					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A441S(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CATCTGGCCCGCCCACACCAA	0.652000													11	19					3.86212e-05	4.32166e-05	0.008291	1	0
SNX19	399979	broad.mit.edu	37	11	130785484	130785484	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:130785484C>G	ENST00000265909.4	-	1	920	c.351G>C	c.(349-351)tgG>tgC	p.W117C	SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.W117C|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	117	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	p.W117C(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CGGAACGGTACCAAGATAACA	0.542000													25	38					0	0	0.003330	0	0
MADCAM1	8174	broad.mit.edu	37	19	498565	498565	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:498565C>G	ENST00000215637.3	+	3	453	c.407C>G	c.(406-408)gCc>gGc	p.A136G	AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000587541.1_Intron|MADCAM1_ENST00000382683.4_Missense_Mutation_p.A41G|MADCAM1_ENST00000346144.4_Missense_Mutation_p.A136G	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	136	Ig-like 2.				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane		p.A136G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTGTACGGCCCACAAAGTC	0.706000													5	9					0	0	0.000602	0	0
TEX13B	56156	broad.mit.edu	37	X	107225239	107225239	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:107225239G>A	ENST00000302917.1	-	2	211	c.119C>T	c.(118-120)tCc>tTc	p.S40F		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	40								p.S40F(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CCAGGATAAGGATATATTCTC	0.597000													28	43					0	0	0.006320	0	0
GPR50	9248	broad.mit.edu	37	X	150345292	150345292	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:150345292C>A	ENST00000218316.3	+	1	168	c.99C>A	c.(97-99)tgC>tgA	p.C33*	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	33					cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.C33*(2)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TTATGTTCTGCGCGATGGTTA	0.527000													41	90					1.07121e-22	1.66423e-22	0.006999	1	0
KIAA0100	9703	broad.mit.edu	37	17	26964909	26964909	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:26964909C>A	ENST00000528896.2	-	14	1790	c.1716G>T	c.(1714-1716)tgG>tgT	p.W572C	KIAA0100_ENST00000544884.1_Missense_Mutation_p.W429C|KIAA0100_ENST00000389003.3_Missense_Mutation_p.W429C	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	572						extracellular region		p.W572F(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGTCCACCTTCCACAGTAATG	0.473000													10	64					7.03913e-09	8.81386e-09	0.001368	1	0
SWI5	375757	broad.mit.edu	37	9	131038432	131038432	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:131038432G>T	ENST00000320188.4	+	1	8	c.8G>T	c.(7-9)cGg>cTg	p.R3L		NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	3					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding	p.R3L(1)									GCTATGCAGCGGCGTGGCCAG	0.637000													27	57					2.12542e-12	2.87729e-12	0.006320	1	0
SORCS3	22986	broad.mit.edu	37	10	107005408	107005408	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:107005408G>T	ENST00000369701.3	+	21	3204	c.2977G>T	c.(2977-2979)Gag>Tag	p.E993*	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	993						integral to membrane	neuropeptide receptor activity	p.E993*(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)		GGACACAAAAGAGATTGCAGT	0.493000													14	47					4.3838e-07	5.20172e-07	0.001855	1	0
NUP133	55746	broad.mit.edu	37	1	229594020	229594020	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:229594020C>A	ENST00000261396.3	-	21	2959	c.2868G>T	c.(2866-2868)ttG>ttT	p.L956F	NUP133_ENST00000366679.1_Missense_Mutation_p.L885F|NUP133_ENST00000537506.1_Missense_Mutation_p.L940F	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	956					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	p.L956F(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CCATATTTGCCAAACCCAGAA	0.388000													21	35					0.000295444	0.000323633	0.002299	1	0
CCKBR	887	broad.mit.edu	37	11	6291926	6291926	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:6291926C>A	ENST00000525462.1	+	4	707	c.704C>A	c.(703-705)gCc>gAc	p.A235D	CCKBR_ENST00000334619.2_Missense_Mutation_p.A235D|CCKBR_ENST00000532715.1_Missense_Mutation_p.A151D			P32239	GASR_HUMAN	cholecystokinin B receptor	193					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	p.A235D(2)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GTGGTTATGGCCGTGGCCTAC	0.567000													55	83					2.5401e-28	4.07522e-28	0.003610	1	0
MYH7	4625	broad.mit.edu	37	14	23894191	23894191	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:23894191C>A	ENST00000355349.3	-	22	2628	c.2466G>T	c.(2464-2466)atG>atT	p.M822I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	822			M -> L (in CMH1).|M -> T (in CMH1).		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.M822I(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)		TCTTGACCCCCATGAAGGCCC	0.552000													26	72					3.01185e-09	3.82539e-09	0.003954	1	0
UBASH3A	53347	broad.mit.edu	37	21	43857644	43857644	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr21:43857644C>T	ENST00000319294.6	+	11	1471	c.1440C>T	c.(1438-1440)gcC>gcT	p.A480A	UBASH3A_ENST00000398367.1_Silent_p.A442A|UBASH3A_ENST00000291535.6_Silent_p.A442A	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	480	Phosphatase-like.					cytosol|nucleus		p.A480A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CTGTGTTTGCCTCCCCAGCCC	0.527000													19	60					0	0	0.002299	0	0
MYH15	22989	broad.mit.edu	37	3	108188944	108188944	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:108188944C>A	ENST00000273353.3	-	15	1615	c.1559G>T	c.(1558-1560)tGg>tTg	p.W520L		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	520	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.W520L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AATAGACACCCATTCAATGCT	0.338000													25	25					4.7796e-09	6.02735e-09	0.004656	1	0
KIF11	3832	broad.mit.edu	37	10	94388606	94388606	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:94388606T>A	ENST00000260731.3	+	11	1349	c.1259T>A	c.(1258-1260)gTa>gAa	p.V420E		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	420					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	p.V420E(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGCAGATTGTAGAATTGATT	0.279000													6	27					0	0	0.001168	0	0
FAM129A	116496	broad.mit.edu	37	1	184764797	184764797	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:184764797C>A	ENST00000367511.3	-	14	2294	c.2101G>T	c.(2101-2103)Gaa>Taa	p.E701*	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	701	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		p.E701*(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GTGATGGGTTCTGGCTCTTCC	0.562000													18	58					1.67942e-08	2.07637e-08	0.006122	1	0
OR4A15	81328	broad.mit.edu	37	11	55135885	55135885	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:55135885G>A	ENST00000314706.3	+	1	526	c.526G>A	c.(526-528)Gcc>Acc	p.A176T		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A176T(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GCTGTTGGCGGCCTGGATTGG	0.438000													76	149					0	0	0.003610	0	0
OTOP1	133060	broad.mit.edu	37	4	4190608	4190608	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:4190608G>T	ENST00000296358.4	-	6	1785	c.1761C>A	c.(1759-1761)gtC>gtA	p.V587V		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	587					biomineral tissue development	extracellular space|integral to membrane		p.V587V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGGCCAGGTTGACCACAATTA	0.473000													12	151					1.3612e-06	1.58957e-06	0.003163	1	0
ARHGAP5	394	broad.mit.edu	37	14	32562039	32562039	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:32562039G>T	ENST00000345122.3	+	2	2479	c.2164G>T	c.(2164-2166)Gca>Tca	p.A722S	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.A722S|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.A722S|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.A722S	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	722					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.L721_A722>FS(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GCAGCAGTTGGCAAACAAGTT	0.383000													16	51					9.16793e-09	1.14632e-08	0.004990	1	0
TLR4	7099	broad.mit.edu	37	9	120475277	120475277	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:120475277G>C	ENST00000355622.6	+	3	972	c.871G>C	c.(871-873)Gca>Cca	p.A291P	TLR4_ENST00000394487.4_Missense_Mutation_p.A251P|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	291					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.A291T(1)|p.A291P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ATTCCGATTAGCATACTTAGA	0.353000													39	60					0	0	0.006230	0	0
SNX14	57231	broad.mit.edu	37	6	86238049	86238049	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:86238049C>G	ENST00000314673.3	-	20	2102	c.1926G>C	c.(1924-1926)aaG>aaC	p.K642N	SNX14_ENST00000505648.1_Missense_Mutation_p.K590N|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000513865.1_Intron|SNX14_ENST00000369627.2_Missense_Mutation_p.K633N|SNX14_ENST00000346348.3_Missense_Mutation_p.K589N	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	642	PX.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	p.K642N(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CAATGATCCTCTTAGAAGGAA	0.318000													91	98					0	0	0.003610	0	0
PIBF1	10464	broad.mit.edu	37	13	73468017	73468017	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr13:73468017T>G	ENST00000326291.6	+	11	1756	c.1418T>G	c.(1417-1419)cTg>cGg	p.L473R		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	473						centrosome		p.L473R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GTTCAACTTCTGCAAGAGGAA	0.333000													17	26					0	0	0.007413	0	0
NCAPD2	9918	broad.mit.edu	37	12	6640523	6640523	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:6640523C>T	ENST00000315579.5	+	32	4950	c.4151C>T	c.(4150-4152)aCa>aTa	p.T1384I	NCAPD2_ENST00000545962.1_Missense_Mutation_p.T1339I	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1384					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	p.T1384I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GAAGACGAGACACCCAAGAAA	0.443000													9	52					0	0	0.008291	0	0
TRBV9	28586	broad.mit.edu	37	7	142239750	142239750	+	RNA	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:142239750G>T	ENST00000390363.2	-	0	176																											CCAGACCTAGGGGAGCATCTC	0.517000													22	29					5.26018e-13	7.23172e-13	0.001882	1	0
PTPRO	5800	broad.mit.edu	37	12	15652394	15652394	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:15652394C>A	ENST00000281171.4	+	4	857	c.527C>A	c.(526-528)aCa>aAa	p.T176K	PTPRO_ENST00000543886.1_Missense_Mutation_p.T176K|PTPRO_ENST00000348962.2_Missense_Mutation_p.T176K	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	176	Fibronectin type-III 2.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.T176K(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AAGGGAAAAACAGTATTTAAT	0.338000													28	72					1.2476e-16	1.82898e-16	0.006320	1	0
CLVS1	157807	broad.mit.edu	37	8	62212449	62212449	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:62212449C>A	ENST00000519846.1	+	3	535	c.63C>A	c.(61-63)gcC>gcA	p.A21A	CLVS1_ENST00000325897.4_Silent_p.A21A|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	21					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.A21A(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAGATTTGGCCAAGATGACCC	0.453000													14	58					4.3838e-07	5.20172e-07	0.001855	1	0
INSR	3643	broad.mit.edu	37	19	7184418	7184418	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:7184418T>A	ENST00000341500.5	-	3	922	c.883A>T	c.(883-885)Aac>Tac	p.N295Y	INSR_ENST00000302850.5_Missense_Mutation_p.N295Y	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	295	Cys-rich.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	p.N295Y(2)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTCCGCGAGTTCTTGCATTTG	0.577000													18	24					0	0	0.006122	0	0
GLYAT	10249	broad.mit.edu	37	11	58480262	58480262	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:58480262A>T	ENST00000344743.3	-	4	428	c.287T>A	c.(286-288)aTc>aAc	p.I96N	GLYAT_ENST00000278400.3_Missense_Mutation_p.I96N|GLYAT_ENST00000529732.1_Missense_Mutation_p.I96N	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	96					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	p.I96N(1)		NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TTTCCAGTTGATGAGTTCTGG	0.398000													23	65					0	0	0.002780	0	0
TMEM151A	256472	broad.mit.edu	37	11	66061839	66061839	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:66061839C>A	ENST00000327259.4	+	2	266	c.122C>A	c.(121-123)tCg>tAg	p.S41*		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	41						integral to membrane		p.S41*(1)		central_nervous_system(1)|kidney(4)|lung(6)	11						TGCCGCGAGTCGCACTGGAAG	0.692000													13	75					9.31168e-06	1.07042e-05	0.001855	1	0
LOC101927079	101927079	broad.mit.edu	37	15	22332696	22332696	+	RNA	SNP	A	A	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:22332696A>C	ENST00000558896.1	+	0	503																											TCTCTTTTTCAGGATGCCTGG	0.458000													27	178					0	0	0.003954	0	0
CD248	57124	broad.mit.edu	37	11	66084402	66084402	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:66084402T>A	ENST00000311330.3	-	1	113	c.97A>T	c.(97-99)Agc>Tgc	p.S33C	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	33	C-type lectin.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	p.S33C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GCGTAGCAGCTGCTGGGGCCG	0.761000													6	11					0	0	0.001168	0	0
PTPRU	10076	broad.mit.edu	37	1	29587414	29587414	+	Splice_Site	SNP	A	A	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:29587414A>C	ENST00000323874.8	+	7	1253	c.1144_splice	c.e7+1	p.A381_splice	PTPRU_ENST00000460170.2_Splice_Site_p.A381_splice|PTPRU_ENST00000373779.3_Splice_Site_p.A381_splice|PTPRU_ENST00000356870.3_Splice_Site_p.A381_splice|PTPRU_ENST00000345512.3_Splice_Site_p.A381_splice|PTPRU_ENST00000428026.2_Splice_Site_p.A381_splice			Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	381					canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	p.A381A(3)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCAAATGCGCAGGTGGGTGCA	0.652000													11	20					0	0	0.000978	0	0
GRIN3A	116443	broad.mit.edu	37	9	104335671	104335671	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:104335671C>T	ENST00000361820.3	-	9	3733	c.3133G>A	c.(3133-3135)Gac>Aac	p.D1045N		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	1045					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.D1045N(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGGGGGATGTCCTGGTGGATC	0.512000													5	90					0	0	0.001168	0	0
RBM15	64783	broad.mit.edu	37	1	110882839	110882839	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:110882839G>A	ENST00000369784.3	+	1	1712	c.812G>A	c.(811-813)aGt>aAt	p.S271N	RBM15_ENST00000602849.1_Missense_Mutation_p.S271N|RBM15_ENST00000487146.2_Missense_Mutation_p.S271N	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	271					interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	p.S271N(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCATCAGCCAGTGTGGTCGGG	0.597000			T	MKL1	acute megakaryocytic leukemia								11	126					0	0	0.008291	0	0
BPHL	670	broad.mit.edu	37	6	3137679	3137679	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:3137679T>C	ENST00000380375.3	+	6	1209	c.565T>C	c.(565-567)Tgt>Cgt	p.C189R	BPHL_ENST00000434640.1_Missense_Mutation_p.C189R|BPHL_ENST00000380368.2_Intron|BPHL_ENST00000380379.5_Missense_Mutation_p.C206R			Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	206					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity	p.C189L(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TGCCAGAACCTGTGAAAAGTG	0.468000													25	159					0	0	0.002780	0	0
KLHL38	340359	broad.mit.edu	37	8	124664095	124664095	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:124664095G>C	ENST00000325995.7	-	1	1095	c.1072C>G	c.(1072-1074)Ctg>Gtg	p.L358V	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	358								p.L358V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TTGAGTTTCAGGGAGAAGATG	0.577000													30	56					0	0	0.004878	0	0
SCN1A	6323	broad.mit.edu	37	2	166901716	166901716	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:166901716C>T	ENST00000423058.2	-	10	1516	c.1499G>A	c.(1498-1500)cGg>cAg	p.R500Q	SCN1A_ENST00000375405.3_Missense_Mutation_p.R500Q|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R500Q|SCN1A_ENST00000303395.4_Missense_Mutation_p.R500Q	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	500						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R500Q(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTTCTTCCTCCGATTTCTTCT	0.463000													25	178					0	0	0.003330	0	0
AHNAK	79026	broad.mit.edu	37	11	62288621	62288621	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:62288621C>A	ENST00000378024.4	-	5	13542	c.13268G>T	c.(13267-13269)gGc>gTc	p.G4423V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4423					nervous system development	nucleus	protein binding	p.G4423V(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAAACTGGGGCCTTTTATGTC	0.443000													47	186					7.88023e-25	1.24395e-24	0.003610	1	0
ANKRD7	56311	broad.mit.edu	37	7	117876164	117876164	+	Nonsense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:117876164A>T	ENST00000357099.4	+	5	771	c.598A>T	c.(598-600)Aaa>Taa	p.K200*	ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000265224.4_Nonsense_Mutation_p.K180*|ANKRD7_ENST00000433239.1_Nonsense_Mutation_p.K127*|ANKRD7_ENST00000417525.1_Nonsense_Mutation_p.K127*			Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	180					male gonad development			p.K200*(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						TCTTCTGGAGAAAGGGGCTGA	0.299000													43	87					0	0	0.003610	0	0
HIVEP2	3097	broad.mit.edu	37	6	143080987	143080987	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:143080987G>A	ENST00000367603.2	-	9	7180	c.6438C>T	c.(6436-6438)ccC>ccT	p.P2146P	HIVEP2_ENST00000367604.1_Silent_p.P2146P|HIVEP2_ENST00000012134.2_Silent_p.P2146P	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2146	10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].|Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P2146P(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AAGCCCTTCTGGGAGATGGCG	0.463000													54	39					0	0	0.003610	0	0
FSHR	2492	broad.mit.edu	37	2	49216159	49216159	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:49216159C>A	ENST00000406846.2	-	6	600	c.481G>T	c.(481-483)Gaa>Taa	p.E161*	FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000304421.4_Intron|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000346173.3_Nonsense_Mutation_p.E161*	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	161					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GAATTTCTTTCAATTGTGTGG	0.333000									Gonadal Dysgenesis, 46 XX				8	29					0.000442599	0.000483631	0.006214	1	0
MARK1	4139	broad.mit.edu	37	1	220805550	220805550	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:220805550G>A	ENST00000402574.1	+	11	1614	c.612G>A	c.(610-612)atG>atA	p.M204I	MARK1_ENST00000366918.4_Missense_Mutation_p.M317I|MARK1_ENST00000366917.4_Missense_Mutation_p.M339I	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	339	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.M339I(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TAGACATTATGGTCACCATGG	0.308000													18	311					0	0	0.007413	0	0
TNN	63923	broad.mit.edu	37	1	175106085	175106085	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:175106085C>A	ENST00000239462.4	+	17	3669	c.3556C>A	c.(3556-3558)Cgg>Agg	p.R1186R		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1186	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.R1186R(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGCAAGGAGCGGTATAAGCT	0.473000													16	59					8.60227e-14	1.19005e-13	0.004007	1	0
NCOR1	9611	broad.mit.edu	37	17	16049783	16049783	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:16049783C>A	ENST00000268712.3	-	10	1246	c.989G>T	c.(988-990)cGg>cTg	p.R330L	NCOR1_ENST00000395848.1_Missense_Mutation_p.R221L|NCOR1_ENST00000395851.1_Missense_Mutation_p.R330L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	330	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	p.R330L(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AGCTTTCCTCCGAGGATTATT	0.378000													29	42					1.5548e-18	2.32956e-18	0.005443	1	0
OR7G1	125962	broad.mit.edu	37	19	9226066	9226066	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:9226066G>T	ENST00000293614.1	-	1	373	c.374C>A	c.(373-375)gCc>gAc	p.A125D	OR7G1_ENST00000541538.1_Missense_Mutation_p.A125D			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A125D(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						GTGGCAAATGGCCACATAGCG	0.498000													37	51					9.17885e-22	1.42103e-21	0.003271	1	0
IVL	3713	broad.mit.edu	37	1	152883610	152883610	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:152883610A>T	ENST00000368764.3	+	2	1401	c.1337A>T	c.(1336-1338)cAg>cTg	p.Q446L	IVL_ENST00000392667.2_Missense_Mutation_p.Q300L			P07476	INVO_HUMAN	involucrin	446	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.Q446L(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGGAGCAGCAGCAGGGGCAG	0.632000													6	6					0	0	0.001168	0	0
SCN1A	6323	broad.mit.edu	37	2	166856287	166856287	+	Splice_Site	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:166856287C>A	ENST00000423058.2	-	22	4302		c.e22-1		SCN1A_ENST00000375405.3_Splice_Site|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Splice_Site|SCN1A_ENST00000303395.4_Splice_Site	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit							voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.?(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGAATGTGGCCTATTAAGAAG	0.289000													40	61					4.32679e-17	6.40684e-17	0.006999	1	0
VCAM1	7412	broad.mit.edu	37	1	101198042	101198042	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:101198042A>T	ENST00000294728.2	+	7	1695	c.1594A>T	c.(1594-1596)Atg>Ttg	p.M532L	VCAM1_ENST00000347652.2_Missense_Mutation_p.M440L|VCAM1_ENST00000370115.1_Missense_Mutation_p.M333L|VCAM1_ENST00000370119.4_Missense_Mutation_p.M470L	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	532	Ig-like C2-type 6.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.M532L(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTCTGTGAATATGACATGCTT	0.537000													17	67					0	0	0.006122	0	0
NXF3	56000	broad.mit.edu	37	X	102334690	102334690	+	Splice_Site	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:102334690C>T	ENST00000395065.3	-	13	1262		c.e13+1		NXF3_ENST00000497850.1_Splice_Site|NXF3_ENST00000425644.1_Splice_Site	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3							cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.?(1)		NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GTGATACTCACGGGGCTGAGT	0.577000													23	35					0	0	0.003954	0	0
NES	10763	broad.mit.edu	37	1	156640299	156640299	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:156640299C>A	ENST00000368223.3	-	4	3813	c.3681G>T	c.(3679-3681)ccG>ccT	p.P1227P		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1227	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	p.P1227P(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCCAGGATCGGGGTGTACG	0.627000													85	94					2.84431e-33	4.66488e-33	0.003610	1	0
ACTN2	88	broad.mit.edu	37	1	236906299	236906299	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:236906299A>T	ENST00000366578.4	+	11	1377	c.1211A>T	c.(1210-1212)gAg>gTg	p.E404V	ACTN2_ENST00000542672.1_Missense_Mutation_p.E404V|ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	404					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.E404V(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CACCTGGCTGAGAAGTTCAGG	0.527000													14	63					0	0	0.001855	0	0
RFC1	5981	broad.mit.edu	37	4	39310388	39310388	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:39310388G>C	ENST00000381897.1	-	13	1886	c.1753C>G	c.(1753-1755)Ctc>Gtc	p.L585V	RFC1_ENST00000349703.2_Missense_Mutation_p.L585V	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	585					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	p.L585V(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TCCACCCAGAGCAAATTTTCC	0.488000													4	270					0	0	0.009096	0	0
DNAH9	1770	broad.mit.edu	37	17	11522884	11522884	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:11522884C>A	ENST00000262442.3	+	6	1204	c.1136C>A	c.(1135-1137)cCa>cAa	p.P379Q	DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.P379Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	379	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.P379Q(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)		TATCTCAGCCCAGAAGACCTG	0.438000													53	57					1.11015e-26	1.76189e-26	0.003610	1	0
AK8	158067	broad.mit.edu	37	9	135704075	135704075	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:135704075C>A	ENST00000298545.3	-	6	962	c.441G>T	c.(439-441)caG>caT	p.Q147H	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	147						cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	p.Q147_A148>HS(2)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TCCTCAGAGCCTGCTCACGCG	0.542000													6	9					8.12818e-05	8.99288e-05	0.001984	1	0
KMT2C	58508	broad.mit.edu	37	7	151877045	151877045	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:151877045T>C	ENST00000355193.2	-	37	7534	c.7316A>G	c.(7315-7317)tAt>tGt	p.Y2439C	KMT2C_ENST00000262189.6_Missense_Mutation_p.Y2439C					lysine (K)-specific methyltransferase 2C									p.Y2439C(2)									GTTCCCAGGATAGGGAGGTGG	0.532000													52	84					0	0	0.003610	0	0
C12orf42	374470	broad.mit.edu	37	12	103872158	103872158	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:103872158A>T	ENST00000378113.2	-	2	272	c.47T>A	c.(46-48)cTa>cAa	p.L16Q	C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Missense_Mutation_p.L16Q|C12orf42_ENST00000548048.1_5'UTR|C12orf42_ENST00000315192.8_Missense_Mutation_p.L16Q	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	16								p.L16Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						TCTGATGGTTAGCAAGAATTC	0.348000													11	7					0	0	0.002450	0	0
CSMD2	114784	broad.mit.edu	37	1	34090212	34090212	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:34090212C>T	ENST00000373381.4	-	35	5708	c.5532G>A	c.(5530-5532)agG>agA	p.R1844R	CSMD2_ENST00000373380.1_Silent_p.R717R|CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373377.1_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1804	CUB 11.					integral to membrane|plasma membrane	protein binding	p.R1804R(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)				GGATGGTGCCCCTGCGCTCTG	0.642000													5	65					0	0	0.000602	0	0
TMEM19	55266	broad.mit.edu	37	12	72090237	72090237	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:72090237T>C	ENST00000266673.5	+	3	860	c.266T>C	c.(265-267)cTa>cCa	p.L89P	RP11-293I14.2_ENST00000548802.1_3'UTR|TMEM19_ENST00000549735.1_Missense_Mutation_p.L89P	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	89						integral to membrane		p.L89P(1)		large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		GGATTTATCCTAACCATTGCA	0.333000													32	62					0	0	0.003271	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520748	33520748	+	Nonsense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:33520748A>T	ENST00000297307.5	-	1	664	c.579T>A	c.(577-579)taT>taA	p.Y193*		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	193						integral to membrane		p.Y193*(1)									AAGCCTCCACATAGCCCAGGG	0.592000													73	107					0	0	0.003610	0	0
RANBP2	5903	broad.mit.edu	37	2	109388295	109388295	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:109388295G>C	ENST00000283195.6	+	21	8114	c.7988G>C	c.(7987-7989)aGa>aCa	p.R2663T		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2663	2 X 50 AA approximate repeats.|Interaction with UBE2I.|Required for E3 SUMO-ligase activity.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	p.R2663T(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TACAAGAATAGACCAGATTAT	0.373000													6	291					0	0	0.001168	0	0
F2R	2149	broad.mit.edu	37	5	76029252	76029252	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:76029252G>T	ENST00000319211.4	+	2	1467	c.1202G>T	c.(1201-1203)gGg>gTg	p.G401V		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	401					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity	p.G401V(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	AACAGCAGTGGGCAGTTGATG	0.428000													30	49					1.62565e-12	2.21088e-12	0.002445	1	0
GPM6A	2823	broad.mit.edu	37	4	176622818	176622818	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:176622818G>T	ENST00000280187.7	-	3	183	c.138C>A	c.(136-138)tgC>tgA	p.C46*	GPM6A_ENST00000393658.2_Nonsense_Mutation_p.C46*|GPM6A_ENST00000506894.1_Nonsense_Mutation_p.C35*|GPM6A_ENST00000515090.1_Nonsense_Mutation_p.C39*	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	46						cell surface|integral to membrane		p.C46*(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CTTCATGACCGCAGCCACAGA	0.493000													35	61					6.05902e-23	9.42988e-23	0.003755	1	0
WBSCR28	135886	broad.mit.edu	37	7	73275552	73275552	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:73275552A>T	ENST00000320531.2	+	1	64	c.28A>T	c.(28-30)Agc>Tgc	p.S10C		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	10						integral to membrane		p.S10C(1)		breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				AGTCAGATCCAGCCTTTTGGG	0.622000													13	30					0	0	0.004007	0	0
LGI2	55203	broad.mit.edu	37	4	25005746	25005746	+	Missense_Mutation	SNP	C	C	T	rs149130054		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:25005746C>T	ENST00000382114.4	-	8	1150	c.965G>A	c.(964-966)cGc>cAc	p.R322H		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	322						extracellular region		p.R322H(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CTTGGAAATGCGAGAGACCTC	0.468000													5	172					0	0	0.000602	0	0
RBP3	5949	broad.mit.edu	37	10	48389931	48389931	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:48389931G>T	ENST00000224600.4	-	1	1060	c.947C>A	c.(946-948)gCc>gAc	p.A316D		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	316	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.A316D(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GATGGCCAGGGCTTTCTCCAG	0.687000													10	38					0.000978159	0.00105967	0.000978	1	0
SORCS1	114815	broad.mit.edu	37	10	108923735	108923735	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:108923735T>C	ENST00000263054.6	-	1	557	c.550A>G	c.(550-552)Aac>Gac	p.N184D	SORCS1_ENST00000344440.6_Missense_Mutation_p.N184D	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	184						integral to membrane	neuropeptide receptor activity|protein binding	p.N184D(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACGCTGCTGTTGTGGCCAGAC	0.557000													10	27					0	0	0.000978	0	0
PSMA6	5687	broad.mit.edu	37	14	35777229	35777229	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:35777229G>A	ENST00000261479.4	+	2	226	c.106G>A	c.(106-108)Ggc>Agc	p.G36S	PSMA6_ENST00000540871.1_Missense_Mutation_p.G17S|PSMA6_ENST00000555764.1_5'UTR|PSMA6_ENST00000553809.1_Missense_Mutation_p.G36S|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000556506.1_Missense_Mutation_p.G36S	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	36					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity	p.G36S(1)		kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		TAACCAGGGTGGCCTTACATC	0.348000													24	45					0	0	0.003954	0	0
SLC7A9	11136	broad.mit.edu	37	19	33355539	33355539	+	Silent	SNP	C	C	T	rs141456885		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:33355539C>T	ENST00000023064.4	-	3	422	c.231G>A	c.(229-231)acG>acA	p.T77T	SLC7A9_ENST00000587772.1_Silent_p.T77T|SLC7A9_ENST00000590341.1_Silent_p.T77T	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	77					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	p.T77T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CTTTACCCAGCGTCGCGAGGA	0.632000													74	32					0	0	0.003610	0	0
KCNA4	3739	broad.mit.edu	37	11	30032523	30032523	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:30032523T>A	ENST00000328224.6	-	2	2936	c.1703A>T	c.(1702-1704)cAc>cTc	p.H568L		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	568						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.H568L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						AGTCTCTCTGTGGTAGAAATA	0.468000													25	45					0	0	0.002780	0	0
C20orf85	128602	broad.mit.edu	37	20	56728613	56728613	+	Nonsense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:56728613A>T	ENST00000371168.3	+	2	143	c.82A>T	c.(82-84)Aag>Tag	p.K28*		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	28								p.K28*(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			ATACCGTCTGAAGGCTGAATC	0.478000													5	163					0	0	0.001168	0	0
OR8S1	341568	broad.mit.edu	37	12	48921694	48921694	+	Splice_Site	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:48921694G>A	ENST00000310194.1	+	2	888		c.e2-1		OR8S1_ENST00000551654.1_3'UTR	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.?(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TCTGTTACAAGGGGGAAAGAA	0.468000													29	26					0	0	0.009535	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	74004251	74004251	+	Nonsense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:74004251A>T	ENST00000476977.1	+	23	4083	c.2392A>T	c.(2392-2394)Aaa>Taa	p.K798*	GTF2IRD1_ENST00000455841.2_Nonsense_Mutation_p.K830*|GTF2IRD1_ENST00000265755.3_Nonsense_Mutation_p.K813*|GTF2IRD1_ENST00000424337.2_Nonsense_Mutation_p.K798*			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	813						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.K813*(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTTCAACGAGAAATACGGTCA	0.607000													3	24					0	0	0.004672	0	0
AHNAK2	113146	broad.mit.edu	37	14	105405700	105405700	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:105405700T>C	ENST00000333244.5	-	7	16207	c.16088A>G	c.(16087-16089)gAt>gGt	p.D5363G	AHNAK2_ENST00000557457.1_Missense_Mutation_p.D361G	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5363						nucleus		p.D333G(1)|p.D5363G(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)			GGATGGCATATCAGTACTTGA	0.438000													20	31					0	0	0.008871	0	0
INTS1	26173	broad.mit.edu	37	7	1517560	1517560	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:1517560A>G	ENST00000389470.4	-	35	5239	c.5240T>C	c.(5239-5241)cTg>cCg	p.L1747P	INTS1_ENST00000404767.3_Missense_Mutation_p.L1548P			Q8N201	INT1_HUMAN	integrator complex subunit 1	1548					snRNA processing	integral to membrane|integrator complex|nuclear membrane		p.L1747P(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CACCTCGATCAGCCCCTGGAG	0.647000													5	97					0	0	0.001168	0	0
OTOP3	347741	broad.mit.edu	37	17	72937670	72937670	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:72937670G>C	ENST00000328801.4	+	2	256	c.256G>C	c.(256-258)Gct>Cct	p.A86P		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	86						integral to membrane|intracellular	zinc ion binding	p.A86P(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GGCCCAGAAGGCTGGACAACT	0.662000													10	17					0	0	0.008291	0	0
AVPR2	554	broad.mit.edu	37	X	153171805	153171805	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:153171805T>G	ENST00000358927.2	+	3	1054	c.845T>G	c.(844-846)cTg>cGg	p.L282R	AVPR2_ENST00000370049.1_Missense_Mutation_p.L282R|AVPR2_ENST00000337474.5_Missense_Mutation_p.L282R			P30518	V2R_HUMAN	arginine vasopressin receptor 2	282			L -> P (in XNDI).		activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	p.L282R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	GTCTATGTGCTGTGCTGGGCA	0.662000													29	46					0	0	0.008361	0	0
OBSL1	23363	broad.mit.edu	37	2	220424202	220424202	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:220424202T>A	ENST00000404537.1	-	9	3027	c.2971A>T	c.(2971-2973)Ata>Tta	p.I991L	OBSL1_ENST00000265318.4_Missense_Mutation_p.I991L|OBSL1_ENST00000373876.1_Missense_Mutation_p.I991L|OBSL1_ENST00000603926.1_Missense_Mutation_p.I991L|RP11-256I23.2_ENST00000597192.1_RNA	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	991	Ig-like 8.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	p.I991L(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CGAGGGTATATGATCCGCACT	0.582000											OREG0003986	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	42	54					0	0	0.009718	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418921	105418921	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:105418921T>A	ENST00000333244.5	-	7	2986	c.2867A>T	c.(2866-2868)gAt>gTt	p.D956V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	956						nucleus		p.D956V(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)			CACCTCGCCATCGGGGGCTGT	0.622000													119	161					0	0	0.003610	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130219647	130219647	+	Silent	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:130219647G>C	ENST00000276211.5	+	8	1386	c.1041G>C	c.(1039-1041)ctG>ctC	p.L347L	ARHGAP36_ENST00000370922.1_Silent_p.L335L|ARHGAP36_ENST00000370921.1_Silent_p.L211L	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	347	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.L347L(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGGAGCGTCTGCTGAAGGCCC	0.478000													85	77					0	0	0.003610	0	0
ENTHD1	150350	broad.mit.edu	37	22	40283671	40283671	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr22:40283671C>A	ENST00000325157.6	-	2	332	c.82G>T	c.(82-84)Gac>Tac	p.D28Y		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	28	ENTH.							p.D28N(1)|p.D28Y(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CCCCAAGGGTCGTTAGAAGTT	0.393000													26	34					5.49717e-05	6.14348e-05	0.003330	1	0
SUGP1	57794	broad.mit.edu	37	19	19427361	19427361	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:19427361C>A	ENST00000247001.5	-	2	423	c.76G>T	c.(76-78)Gga>Tga	p.G26*	SUGP1_ENST00000585763.1_5'UTR|SUGP1_ENST00000334782.5_Nonsense_Mutation_p.G26*	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	26					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	p.G26*(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						TTCATTTTTCCAGATTTAGGG	0.483000													12	39					1.08611e-07	1.30806e-07	0.000978	1	0
TMPRSS11A	339967	broad.mit.edu	37	4	68788579	68788579	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:68788579C>T	ENST00000508048.1	-	7	618	c.583G>A	c.(583-585)Gcg>Acg	p.A195T	TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.A199T|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.A196T			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	199	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.A199T(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						GGCCAGGCCGCCTTGGGTGCA	0.448000													17	37					0	0	0.004007	0	0
PARG	8505	broad.mit.edu	37	10	51077590	51077590	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:51077590C>G	ENST00000402038.3	-	6	544	c.545G>C	c.(544-546)gGa>gCa	p.G182A		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	667					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.G667A(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGATGAACGTCCCTCAAACAA	0.318000													4	8					0	0	0.001168	0	0
PKD1L1	168507	broad.mit.edu	37	7	47882629	47882629	+	Silent	SNP	C	C	T	rs148252365		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:47882629C>T	ENST00000289672.2	-	34	5426	c.5376G>A	c.(5374-5376)ctG>ctA	p.L1792L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1792					cell-cell adhesion	integral to membrane		p.L1792L(3)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GATGGCCCGGCAGGGAAGCTT	0.468000													10	57					0	0	0.006214	0	0
VWCE	220001	broad.mit.edu	37	11	61026549	61026549	+	Silent	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:61026549A>G	ENST00000335613.5	-	20	2852	c.2466T>C	c.(2464-2466)ggT>ggC	p.G822G	VWCE_ENST00000535710.1_Silent_p.G287G	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	822						extracellular region	calcium ion binding	p.G822G(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GTGAGTGTGGACCATGAGCTC	0.597000													10	35					0	0	0.008291	0	0
GRM3	2913	broad.mit.edu	37	7	86415918	86415918	+	Silent	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:86415918C>G	ENST00000361669.2	+	3	1909	c.810C>G	c.(808-810)cgC>cgG	p.R270R	GRM3_ENST00000394720.2_Silent_p.R268R|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000536043.1_Silent_p.R142R|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Silent_p.R270R	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	270					synaptic transmission	integral to plasma membrane		p.R270R(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCAACGCGCGCGTCGTGGTCC	0.652000													15	59					0	0	0.003163	0	0
PRSS55	203074	broad.mit.edu	37	8	10396254	10396254	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:10396254T>C	ENST00000328655.3	+	5	1050	c.1010T>C	c.(1009-1011)cTc>cCc	p.L337P	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Intron	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	337					proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						AGATCCTGGCTCCTGCTCTGT	0.522000													12	184					0	0	0.001368	0	0
KRT26	353288	broad.mit.edu	37	17	38925158	38925158	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:38925158T>A	ENST00000335552.4	-	6	1208	c.1160A>T	c.(1159-1161)tAt>tTt	p.Y387F		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	387	Coil 2.|Rod.					intermediate filament	structural molecule activity	p.Y387F(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TAAGTTGCAATAAATGTCAAT	0.328000													15	24					0	0	0.002450	0	0
RNF216	54476	broad.mit.edu	37	7	5662684	5662684	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:5662684G>C	ENST00000425013.2	-	17	2632	c.2408C>G	c.(2407-2409)gCg>gGg	p.A803G	RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.A860G	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	803	Pro-rich.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	p.A860G(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GGGTGGGTGCGCGAAGGCATA	0.662000													46	150					0	0	0.003610	0	0
DPEP1	1800	broad.mit.edu	37	16	89703053	89703053	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr16:89703053G>T	ENST00000393092.3	+	5	774	c.483G>T	c.(481-483)atG>atT	p.M161I	DPEP1_ENST00000261615.4_Missense_Mutation_p.M161I|DPEP1_ENST00000421184.1_Missense_Mutation_p.M161I	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	161					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	p.M161I(1)		large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	AGCTGGGCATGCGGTACCTGA	0.677000													9	44					2.52707e-12	3.41579e-12	0.006214	1	0
OC90	729330	broad.mit.edu	37	8	133036912	133036912	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:133036912C>A	ENST00000262283.5	-	18	1985	c.1886G>T	c.(1885-1887)gGg>gTg	p.G629V	OC90_ENST00000443356.2_Missense_Mutation_p.G433V|OC90_ENST00000603859.1_Missense_Mutation_p.G417V|OC90_ENST00000254627.3_Missense_Mutation_p.G417V			Q02509	OC90_HUMAN	otoconin 90	433					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	p.G391V(1)|p.G629V(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CCCAGGGCACCCGAGTCTGCT	0.632000													15	15					6.72482e-11	8.8201e-11	0.003163	1	0
DZIP1	22873	broad.mit.edu	37	13	96238287	96238287	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr13:96238287G>C	ENST00000347108.3	-	19	2754	c.2322C>G	c.(2320-2322)atC>atG	p.I774M	DZIP1_ENST00000376829.2_Missense_Mutation_p.I774M|DZIP1_ENST00000361156.3_Missense_Mutation_p.I755M|DZIP1_ENST00000361396.2_Missense_Mutation_p.I755M			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	774					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	p.I755M(1)|p.I774M(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CTTCTTTTTTGATAAACATCT	0.348000													11	43					0	0	0.000978	0	0
SLAMF1	6504	broad.mit.edu	37	1	160616716	160616716	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:160616716A>T	ENST00000302035.6	-	1	369	c.20T>A	c.(19-21)cTc>cAc	p.L7H	SLAMF1_ENST00000538290.1_Missense_Mutation_p.L7H|SLAMF1_ENST00000235739.5_Missense_Mutation_p.L7H|SLAMF1_ENST00000355199.3_Missense_Mutation_p.L7H|SLAMF1_ENST00000494463.1_5'UTR	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	7					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	p.L7H(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGTCAAGGAGAGGAGCCCCTT	0.567000													4	39					0	0	0.000602	0	0
NKRF	55922	broad.mit.edu	37	X	118723347	118723347	+	Missense_Mutation	SNP	G	G	T	rs144536074		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:118723347G>T	ENST00000371527.1	-	2	2693	c.2041C>A	c.(2041-2043)Cat>Aat	p.H681N	NKRF_ENST00000304449.5_Missense_Mutation_p.H681N|NKRF_ENST00000542113.1_Missense_Mutation_p.H696N|NKRF_ENST00000487600.1_Intron	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	681					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	p.H681N(1)|p.H696N(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						AGCTCGTAATGGCCCACTTGG	0.403000													4	48					1.23904e-05	1.40967e-05	0.000602	1	0
CTNND2	1501	broad.mit.edu	37	5	11732329	11732329	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:11732329C>A	ENST00000304623.8	-	2	282	c.93G>T	c.(91-93)ctG>ctT	p.L31L	CTNND2_ENST00000359640.2_Silent_p.L31L|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	31					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.L31L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGCCGGGGCTCAGGGAACTCG	0.502000													41	147					1.96642e-18	2.94131e-18	0.006999	1	0
SP110	3431	broad.mit.edu	37	2	231067407	231067407	+	Silent	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:231067407G>C	ENST00000258381.6	-	9	1013	c.936C>G	c.(934-936)ctC>ctG	p.L312L	SP110_ENST00000338556.3_Intron|SP110_ENST00000258382.5_Silent_p.L312L|SP110_ENST00000540870.1_Silent_p.L318L|SP110_ENST00000358662.4_Silent_p.L312L|SP110_ENST00000392048.3_Silent_p.L310L	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	312					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	p.L312L(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		CCACCCTTTTGAGCTTCTTTT	0.458000													7	141					0	0	0.006214	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855521	79855521	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:79855521C>A	ENST00000338682.3	-	5	990	c.318G>T	c.(316-318)aaG>aaT	p.K106N		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	106						cytoplasm|nucleus		p.K106N(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CAGCCCCACTCTTGAGGAGCA	0.448000													46	75					3.05275e-18	4.55849e-18	0.003214	1	0
ARHGAP15	55843	broad.mit.edu	37	2	143913138	143913138	+	Nonsense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:143913138A>T	ENST00000409869.1	+	3	256	c.79A>T	c.(79-81)Aga>Tga	p.R27*	ARHGAP15_ENST00000295095.6_Nonsense_Mutation_p.R27*			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	27					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	p.R27*(1)		endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGTGCAAATGAGAATCAAAAA	0.438000													13	26					0	0	0.002450	0	0
ABCA13	154664	broad.mit.edu	37	7	48319268	48319268	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:48319268G>A	ENST00000435803.1	+	18	8501	c.8477G>A	c.(8476-8478)tGg>tAg	p.W2826*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2826					transport	integral to membrane	ATP binding|ATPase activity	p.W2826*(1)|p.W2771*(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						ATAGCTCTCTGGAGGAAAGGA	0.333000													60	97					0	0	0.003610	0	0
SNX13	23161	broad.mit.edu	37	7	17836494	17836494	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:17836494C>T	ENST00000409389.1	-	25	2787	c.2615G>A	c.(2614-2616)aGa>aAa	p.R872K	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Missense_Mutation_p.R861K			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	872					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	p.R861K(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TACTCTTGTTCTCATTCGAAT	0.328000													92	168					0	0	0.003610	0	0
EAPP	55837	broad.mit.edu	37	14	34998672	34998672	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:34998672G>A	ENST00000250454.3	-	4	443	c.362C>T	c.(361-363)aCc>aTc	p.T121I		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	121					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane		p.T121I(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		TTTTTTCTTGGTCACCTGTAC	0.353000													10	38					0	0	0.008291	0	0
USH2A	7399	broad.mit.edu	37	1	216497008	216497008	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:216497008G>T	ENST00000366943.2	-	8	1744	c.1358C>A	c.(1357-1359)aCa>aAa	p.T453K	USH2A_ENST00000366942.3_Missense_Mutation_p.T453K|USH2A_ENST00000307340.3_Missense_Mutation_p.T453K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	453	Laminin N-terminal.		T -> I (found in a renal cell carcinoma sample; somatic mutation).		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.T453I(1)|p.T453K(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)		GATGCTAAATGTGACATTGCC	0.363000										HNSCC(13;0.011)			25	94					1.55469e-16	2.27541e-16	0.003330	1	0
SDAD1P1	157489	broad.mit.edu	37	8	26238284	26238284	+	RNA	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:26238284C>G	ENST00000519902.1	-	0	1664																											TGTTTTTCATCTTCATCTTTT	0.418000													18	39					0	0	0.007413	0	0
SZT2	23334	broad.mit.edu	37	1	43890055	43890055	+	Missense_Mutation	SNP	C	C	T	rs884257		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:43890055C>T	ENST00000562955.1	+	16	2423	c.2423C>T	c.(2422-2424)cCt>cTt	p.P808L	SZT2_ENST00000372442.1_5'UTR	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	808						peroxisome		p.P808L(1)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGACTGGCCCCTGCGCTGCCT	0.612000													22	61					0	0	0.003954	0	0
LYSMD4	145748	broad.mit.edu	37	15	100269825	100269825	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:100269825C>T	ENST00000545021.1	-	4	830	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	LYSMD4_ENST00000409796.1_Missense_Mutation_p.E132K|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000332728.4_Missense_Mutation_p.E132K|LYSMD4_ENST00000344791.2_Missense_Mutation_p.E133K			Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	132					cell wall macromolecule catabolic process	integral to membrane		p.E133K(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			GGTTTCAGTTCTTTGTGGGTC	0.522000													17	100					0	0	0.007413	0	0
ZNF362	149076	broad.mit.edu	37	1	33760575	33760575	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:33760575C>T	ENST00000539719.1	+	7	1116	c.946C>T	c.(946-948)Cct>Tct	p.P316S	ZNF362_ENST00000373428.5_Missense_Mutation_p.P316S	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P316S(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GTGCCCACATCCTGGCTGCGA	0.622000											OREG0013342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	28					0	0	0.008291	0	0
GNAS	2778	broad.mit.edu	37	20	57415891	57415891	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:57415891C>G	ENST00000313949.7	+	1	1119	c.730C>G	c.(730-732)Cgt>Ggt	p.R244G	GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.R244G|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.R244G|GNAS-AS1_ENST00000424094.2_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R244G(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCCCATCCGGCGTCACTAATG	0.612000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			4	31					0	0	0.009096	0	0
SRBD1	55133	broad.mit.edu	37	2	45829073	45829073	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:45829073C>A	ENST00000263736.4	-	3	292	c.230G>T	c.(229-231)gGc>gTc	p.G77V		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	77					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	p.G77V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GACTTCTGAGCCATCACTGAT	0.478000													66	186					7.1157e-29	1.14996e-28	0.003610	1	0
CX3CR1	1524	broad.mit.edu	37	3	39307625	39307625	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:39307625C>A	ENST00000541347.1	-	2	615	c.376G>T	c.(376-378)Gat>Tat	p.D126Y	CX3CR1_ENST00000358309.3_Missense_Mutation_p.D158Y|CX3CR1_ENST00000399220.2_Missense_Mutation_p.D126Y|CX3CR1_ENST00000542107.1_Missense_Mutation_p.D126Y	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	126					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	p.D158Y(1)|p.D126Y(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		AGGTACCTATCAATGCTGATG	0.517000													44	43					3.54909e-21	5.45634e-21	0.002852	1	0
SPEG	10290	broad.mit.edu	37	2	220355136	220355136	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:220355136G>C	ENST00000312358.7	+	37	9059	c.8927G>C	c.(8926-8928)cGc>cCc	p.R2976P	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2976	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.R2976P(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CACAGGGGCCGCTTTGGTGTT	0.667000													14	26					0	0	0.004007	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68217815	68217815	+	Splice_Site	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:68217815T>A	ENST00000347230.4	-	41	7510		c.e41-2		ZFYVE26_ENST00000557306.1_Splice_Site	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26						cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.?(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTCCAGCTCCTGTGCAGAACA	0.542000													7	52					0	0	0.001984	0	0
FLG2	388698	broad.mit.edu	37	1	152323313	152323313	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:152323313G>T	ENST00000388718.5	-	3	7021	c.6949C>A	c.(6949-6951)Cag>Aag	p.Q2317K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2317							calcium ion binding|structural molecule activity	p.Q2317K(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAACCTGTCTGTGTGGATTGT	0.463000													61	342					7.50695e-29	1.21098e-28	0.003610	1	0
SLC9A9	285195	broad.mit.edu	37	3	143271264	143271264	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:143271264G>T	ENST00000316549.6	-	9	1237	c.1029C>A	c.(1027-1029)gtC>gtA	p.V343V		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	343					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	p.V343V(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GTGCTTGTGTGACTCCACAGA	0.353000													35	30					3.66082e-28	5.86261e-28	0.005524	1	0
TRAF3IP3	80342	broad.mit.edu	37	1	209951496	209951496	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:209951496G>A	ENST00000367024.1	+	13	1746	c.1230G>A	c.(1228-1230)gtG>gtA	p.V410V	TRAF3IP3_ENST00000400959.3_Silent_p.V390V|TRAF3IP3_ENST00000367025.3_Silent_p.V410V|TRAF3IP3_ENST00000367026.3_Silent_p.V390V|TRAF3IP3_ENST00000367023.1_Silent_p.V146V|TRAF3IP3_ENST00000010338.4_Silent_p.V390V|TRAF3IP3_ENST00000477431.1_Intron			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	410						integral to membrane	protein binding	p.V390V(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TCACCCTGGTGACCAGAGTAC	0.468000													7	24					0	0	0.001984	0	0
NDST2	8509	broad.mit.edu	37	10	75563708	75563708	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:75563708C>A	ENST00000299641.4	-	11	2511	c.1541G>T	c.(1540-1542)aGc>aTc	p.S514I	NDST2_ENST00000309979.6_Missense_Mutation_p.S637I	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	637	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.S637I(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					CTCAAATGTGCTGGGGCTAGG	0.502000													32	97					2.08457e-15	2.98181e-15	0.002096	1	0
NRXN1	9378	broad.mit.edu	37	2	50847242	50847242	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:50847242A>G	ENST00000404971.1	-	9	2697	c.1358T>C	c.(1357-1359)tTt>tCt	p.F453S	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.F413S|NRXN1_ENST00000406859.3_Missense_Mutation_p.F413S|NRXN1_ENST00000406316.2_Missense_Mutation_p.F413S|NRXN1_ENST00000405472.3_Missense_Mutation_p.F405S|NRXN1_ENST00000402717.3_Missense_Mutation_p.F405S	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	413	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.F453S(1)|p.F413S(1)|p.F454S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AACATAGAAAAAGTCATCAGA	0.473000													10	33					0	0	0.008291	0	0
GPR125	166647	broad.mit.edu	37	4	22422577	22422577	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:22422577C>T	ENST00000334304.5	-	12	2010	c.1741G>A	c.(1741-1743)Gga>Aga	p.G581R	GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Missense_Mutation_p.G355R|GPR125_ENST00000502482.1_Missense_Mutation_p.G581R	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	581					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.G581R(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TCCAGGTTTCCCTCTGGATCC	0.458000													165	316					0	0	0.003610	0	0
NCR1	9437	broad.mit.edu	37	19	55417575	55417575	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:55417575C>T	ENST00000594765.1	+	1	55	c.30C>T	c.(28-30)tgC>tgT	p.C10C	NCR1_ENST00000291890.4_Silent_p.C10C|NCR1_ENST00000598576.1_Silent_p.C10C|NCR1_ENST00000357397.5_Silent_p.C10C|NCR1_ENST00000350790.5_Silent_p.C10C|NCR1_ENST00000447255.1_Silent_p.C10C|NCR1_ENST00000338835.5_Silent_p.C10C			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	10					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	p.C10C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CCCTGCTCTGCGTCGGTGAGT	0.607000													30	38					0	0	0.002836	0	0
EMR2	30817	broad.mit.edu	37	19	14877104	14877104	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:14877104G>T	ENST00000315576.3	-	7	1028	c.577C>A	c.(577-579)Ccg>Acg	p.P193T	EMR2_ENST00000353876.1_Intron|EMR2_ENST00000346057.1_Intron|EMR2_ENST00000601345.1_Missense_Mutation_p.P193T|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000594294.1_Intron|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000392965.3_Missense_Mutation_p.P193T|EMR2_ENST00000392967.2_Missense_Mutation_p.P193T|EMR2_ENST00000596991.2_Missense_Mutation_p.P193T	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	193	EGF-like 4; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.P193T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TGCCAGCCCGGGCGGCAGCGG	0.582000													54	76					9.59449e-18	1.42308e-17	0.003610	1	0
PENK	5179	broad.mit.edu	37	8	57353894	57353894	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:57353894G>T	ENST00000314922.3	-	2	817	c.741C>A	c.(739-741)ggC>ggA	p.G247G	PENK_ENST00000451791.2_Silent_p.G247G	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	247			G -> D (in dbSNP:rs1800567).		neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	p.G247G(2)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			AGTAACTTTCGCCTTCTTCGT	0.498000													24	121					1.10923e-09	1.42523e-09	0.002780	1	0
UBE2Q2	92912	broad.mit.edu	37	15	76168613	76168613	+	Splice_Site	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:76168613G>A	ENST00000267938.4	+	6	1055		c.e6+1		UBE2Q2_ENST00000338677.4_Splice_Site|UBE2Q2_ENST00000561851.1_Splice_Site|UBE2Q2_ENST00000569423.1_Splice_Site	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2						protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity	p.?(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						TATAAAACAGGTAAGGATCTC	0.388000													70	116					0	0	0.003610	0	0
DCLK3	85443	broad.mit.edu	37	3	36779284	36779284	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:36779284C>A	ENST00000416516.2	-	2	1357	c.867G>T	c.(865-867)agG>agT	p.R289S		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	289						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.R289S(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CTCCTCGGGTCCTGCGGAGCT	0.557000													80	87					5.98988e-27	9.54063e-27	0.003610	1	0
FLG2	388698	broad.mit.edu	37	1	152327330	152327330	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:152327330C>G	ENST00000388718.5	-	3	3004	c.2932G>C	c.(2932-2934)Gag>Cag	p.E978Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	978	Ser-rich.						calcium ion binding|structural molecule activity	p.E978Q(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCCTGACTCATGTTGTCCA	0.493000													25	644					0	0	0.003954	0	0
ACPP	55	broad.mit.edu	37	3	132056327	132056327	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:132056327C>T	ENST00000336375.5	+	5	574	c.484C>T	c.(484-486)Cct>Tct	p.P162S	ACPP_ENST00000475741.1_Intron|ACPP_ENST00000351273.7_Missense_Mutation_p.P162S	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	162						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	p.P162S(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						CAGGAACTGCCCTCGTTTTCA	0.373000													48	62					0	0	0.003610	0	0
BICC1	80114	broad.mit.edu	37	10	60548170	60548170	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:60548170G>A	ENST00000373886.3	+	6	591	c.587G>A	c.(586-588)cGa>cAa	p.R196Q		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	196	KH 1.				multicellular organismal development		RNA binding	p.R196Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GAATCTGCCCGAGTTAGAATT	0.308000													16	30					0	0	0.006122	0	0
ARHGEF35	445328	broad.mit.edu	37	7	143884027	143884027	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:143884027G>A	ENST00000378115.2	-	2	1579	c.1450C>T	c.(1450-1452)Ctt>Ttt	p.L484F	ARHGEF35_ENST00000543357.1_Missense_Mutation_p.L484F	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	484								p.L484F(1)		kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						acatatcaaaGTACTGATAGA	0.378000													9	8					0	0	0.004482	0	0
IPO7	10527	broad.mit.edu	37	11	9455345	9455345	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:9455345C>T	ENST00000379719.3	+	18	2168	c.2026C>T	c.(2026-2028)Ccc>Tcc	p.P676S		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	676					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	p.P676S(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GCAGCTACTACCCCTTGTATT	0.393000													10	80					0	0	0.008291	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503842	140503842	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:140503842G>A	ENST00000194152.1	+	1	2262	c.2262G>A	c.(2260-2262)ctG>ctA	p.L754L		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		754					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.L754L(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGTGTGTCTGACAGGAGACT	0.572000													70	82					0	0	0.003610	0	0
ZNF415	55786	broad.mit.edu	37	19	53625931	53625931	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:53625931C>G	ENST00000601215.1	-	3	307	c.292G>C	c.(292-294)Gaa>Caa	p.E98Q	ZNF415_ENST00000596683.1_5'UTR|ZNF415_ENST00000599261.1_Intron|ZNF415_ENST00000597748.1_5'UTR|ZNF415_ENST00000440291.1_5'UTR|ZNF415_ENST00000448501.1_5'UTR|ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000455735.2_5'UTR|ZNF415_ENST00000243643.4_5'UTR|ZNF415_ENST00000594011.1_5'UTR|ZNF415_ENST00000421033.1_5'UTR|ZNF415_ENST00000597503.1_5'UTR|ZNF415_ENST00000595813.1_Intron|ZNF415_ENST00000600574.1_5'UTR|ZNF415_ENST00000500065.4_Intron|ZNF415_ENST00000595193.1_5'UTR			Q09FC8	ZN415_HUMAN	zinc finger protein 415	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		AAAAGCCATTCCTGACTCCTT	0.438000													79	122					0	0	0.003610	0	0
AGMO	392636	broad.mit.edu	37	7	15430530	15430530	+	Splice_Site	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:15430530C>G	ENST00000342526.3	-	7	846	c.676_splice	c.e7-1	p.G226_splice		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	226					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	p.G226A(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						ACGATTTCTGCCTATGAGACA	0.224000													13	24					0	0	0.004007	0	0
PELI2	57161	broad.mit.edu	37	14	56755250	56755250	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:56755250C>T	ENST00000267460.4	+	4	691	c.405C>T	c.(403-405)acC>acT	p.T135T		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	135					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding	p.T135T(1)		kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						CACAGAGCACCATATCCAGGT	0.507000													11	27					0	0	0.000978	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382476	41382476	+	Silent	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:41382476T>C	ENST00000377801.3	-	2	338	c.264A>G	c.(262-264)ctA>ctG	p.L88L	PLCXD3_ENST00000328457.3_Silent_p.L88L			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	88	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.L88L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TTCCAGCTCCTAGCTGGCCAG	0.438000													13	134					0	0	0.002450	0	0
UBE2T	29089	broad.mit.edu	37	1	202301011	202301011	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:202301011C>A	ENST00000367274.4	-	7	695	c.546G>T	c.(544-546)aaG>aaT	p.K182N		NM_014176.3	NP_054895.1	Q9NPD8	UBE2T_HUMAN	ubiquitin-conjugating enzyme E2T (putative)	182					DNA repair|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	nucleoplasm	ATP binding|ubiquitin-protein ligase activity	p.K182N(1)		large_intestine(1)|lung(3)|skin(1)	5						GCTGACTGGCCTTCCTTTTCT	0.438000													44	155					4.18559e-23	6.56039e-23	0.003610	1	0
CNGA3	1261	broad.mit.edu	37	2	99008327	99008327	+	Splice_Site	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:99008327G>T	ENST00000393504.1	+	7	984	c.566_splice	c.e7-1	p.R189_splice	CNGA3_ENST00000409937.1_Splice_Site_p.R193_splice|CNGA3_ENST00000272602.2_Splice_Site_p.R189_splice|CNGA3_ENST00000436404.2_Splice_Site_p.R171_splice	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	189					signal transduction|visual perception	integral to membrane	cGMP binding	p.R189S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCTTCTTTAGGGCCTGTTTCG	0.567000													14	61					7.93312e-07	9.32564e-07	0.002450	1	0
RSBN1	54665	broad.mit.edu	37	1	114310857	114310857	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:114310857G>C	ENST00000261441.5	-	5	1876	c.1813C>G	c.(1813-1815)Caa>Gaa	p.Q605E		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	605						nucleus		p.Q605E(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCACCAAATTGTACAGCTTTC	0.403000													6	75					0	0	0.001168	0	0
ACTN2	88	broad.mit.edu	37	1	236906314	236906314	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:236906314A>G	ENST00000366578.4	+	11	1392	c.1226A>G	c.(1225-1227)aAg>aGg	p.K409R	ACTN2_ENST00000542672.1_Missense_Mutation_p.K409R|ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	409					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.K409R(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TTCAGGCAGAAGGCCTCAACG	0.522000													19	63					0	0	0.010504	0	0
MYCT1	80177	broad.mit.edu	37	6	153019179	153019179	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:153019179A>G	ENST00000367245.5	+	1	150	c.142A>G	c.(142-144)Att>Gtt	p.I48V	MYCT1_ENST00000529453.1_Missense_Mutation_p.I48V	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	48						nucleus		p.I48V(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TCTTGTGGATATTATGGCTAA	0.313000													8	57					0	0	0.004482	0	0
KIAA1551	55196	broad.mit.edu	37	12	32134413	32134413	+	Missense_Mutation	SNP	G	G	T	rs138191568	byFrequency	TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:32134413G>T	ENST00000312561.4	+	4	938	c.524G>T	c.(523-525)cGa>cTa	p.R175L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551									p.R175L(1)									AATTCTACACGACTTCCTGTA	0.418000													13	83					1.05317e-09	1.35517e-09	0.002450	1	0
CELF4	56853	broad.mit.edu	37	18	34855077	34855077	+	Splice_Site	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr18:34855077C>A	ENST00000420428.2	-	4	973		c.e4+1		CELF4_ENST00000591282.1_Splice_Site|CELF4_ENST00000361795.5_Splice_Site|CELF4_ENST00000591287.1_Splice_Site|CELF4_ENST00000334919.5_Splice_Site|CELF4_ENST00000412753.1_Splice_Site|CELF4_ENST00000603232.1_Splice_Site|CELF4_ENST00000588597.1_Splice_Site|RP11-797E24.3_ENST00000588766.1_RNA|RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000601019.1_Splice_Site	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4						embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	p.?(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GCCCCGCGCACCCTTGCTGTT	0.697000													5	60					0.000602214	0.000654806	0.000602	1	0
LINC00477	144360	broad.mit.edu	37	12	24736923	24736923	+	RNA	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:24736923C>A	ENST00000483544.1	-	0	179					NR_029451.2													p.C44F(1)									GAAGGTAAAGCAGCCAGTCAT	0.493000													25	140					5.35356e-11	7.04248e-11	0.002780	1	0
ASTN2	23245	broad.mit.edu	37	9	119858333	119858333	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:119858333G>T	ENST00000313400.4	-	5	1366	c.1266C>A	c.(1264-1266)cgC>cgA	p.R422R	ASTN2_ENST00000361209.2_Silent_p.R371R|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Silent_p.R422R			O75129	ASTN2_HUMAN	astrotactin 2	422						integral to membrane		p.R371R(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CTTTGCTGCGGCGGCGACTGC	0.502000													20	34					6.33239e-15	8.94222e-15	0.010504	1	0
PHF21A	51317	broad.mit.edu	37	11	45991437	45991437	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:45991437G>A	ENST00000257821.4	-	8	1254	c.631C>T	c.(631-633)Cct>Tct	p.P211S	PHF21A_ENST00000323180.6_Missense_Mutation_p.P211S|PHF21A_ENST00000418153.2_Missense_Mutation_p.P210S	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	210					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	p.P210S(1)|p.P211S(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						ATGGGCTGAGGAGGTGTTGCC	0.403000													10	10					0	0	0.001368	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64694315	64694315	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:64694315G>A	ENST00000164133.2	+	3	953	c.331G>A	c.(331-333)Gtg>Atg	p.V111M		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	111					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.V111M(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CAACGAGCTGGTGGAGTGTGT	0.652000													18	61					0	0	0.006122	0	0
ABI3BP	25890	broad.mit.edu	37	3	100605099	100605099	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:100605099G>T	ENST00000471714.1	-	5	660	c.551C>A	c.(550-552)aCt>aAt	p.T184N	ABI3BP_ENST00000284322.5_Missense_Mutation_p.T184N|ABI3BP_ENST00000495063.1_Missense_Mutation_p.T184N			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	184	Fibronectin type-III 1.					extracellular space		p.T184N(2)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AATTGTTTCAGTGGCTGGACA	0.333000													14	28					4.36969e-10	5.67226e-10	0.001855	1	0
FBXO16	157574	broad.mit.edu	37	8	28304710	28304710	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:28304710C>A	ENST00000380254.2	-	7	969	c.821G>T	c.(820-822)aGg>aTg	p.R274M	FBXO16_ENST00000518734.1_Missense_Mutation_p.R262M|FBXO16_ENST00000346498.2_Missense_Mutation_p.R262M	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	274								p.R274M(1)		large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		TTTTCTTAGCCTAGTTCTGTC	0.343000													21	100					7.45023e-12	1.00396e-11	0.010504	1	0
PNPLA8	50640	broad.mit.edu	37	7	108155042	108155042	+	Silent	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:108155042T>A	ENST00000426128.2	-	2	1019	c.894A>T	c.(892-894)gtA>gtT	p.V298V	PNPLA8_ENST00000453144.1_Silent_p.V198V|PNPLA8_ENST00000436062.1_Silent_p.V298V|PNPLA8_ENST00000388728.5_Silent_p.V298V|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000257694.8_Silent_p.V298V|PNPLA8_ENST00000422087.1_Silent_p.V298V	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	298					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	p.V298V(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						CTAAAGCTTGTACACCTTCCG	0.418000													28	94					0	0	0.005443	0	0
WDR62	284403	broad.mit.edu	37	19	36557325	36557325	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:36557325G>T	ENST00000401500.2	+	5	592	c.557G>T	c.(556-558)tGg>tTg	p.W186L	WDR62_ENST00000270301.7_Missense_Mutation_p.W186L|WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000388999.3_Missense_Mutation_p.W186L	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	186					cerebral cortex development	nucleus		p.W186L(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTCTGGGACTGGAAGGTAAGA	0.567000													8	1					5.18039e-06	5.99407e-06	0.003080	1	0
GMPR	2766	broad.mit.edu	37	6	16274679	16274679	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:16274679G>C	ENST00000259727.4	+	5	613	c.499G>C	c.(499-501)Gag>Cag	p.E167Q		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	167					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding	p.E167Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				AATGGTAGAAGAGCTTATTCT	0.473000													3	122					0	0	0.004672	0	0
FRMD5	84978	broad.mit.edu	37	15	44198064	44198064	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:44198064C>T	ENST00000417257.1	-	6	689	c.513G>A	c.(511-513)ctG>ctA	p.L171L	FRMD5_ENST00000402883.1_Silent_p.L171L|FRMD5_ENST00000484674.1_Silent_p.L82L	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	171	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	p.L171L(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TTTTCCTTTCCAGCTTCTCTG	0.488000													21	50					0	0	0.002780	0	0
HOXA9	3205	broad.mit.edu	37	7	27203226	27203226	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:27203226T>C	ENST00000343483.6	-	2	887	c.815A>G	c.(814-816)gAg>gGg	p.E272G	HOXA9_ENST00000396345.1_3'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.E112G|HOXA9_ENST00000497089.1_5'UTR	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	272							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E272G(1)		central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						ATGGCATCACTCGTCTTTTGC	0.493000			T	"""NUP98, MSI2"""	AML*								106	147					0	0	0.003610	0	0
XIRP2	129446	broad.mit.edu	37	2	168105070	168105070	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:168105070G>A	ENST00000409195.1	+	9	7257	c.7168G>A	c.(7168-7170)Gga>Aga	p.G2390R	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G2168R|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G2390R|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2215					actin cytoskeleton organization	cell junction	actin binding	p.G2390R(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						AAAGCACAGTGGAGACTTCAT	0.478000													38	62					0	0	0.005524	0	0
BRINP3	339479	broad.mit.edu	37	1	190067188	190067188	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:190067188G>T	ENST00000367462.3	-	8	2492	c.2261C>A	c.(2260-2262)cCa>cAa	p.P754Q	FAM5C_ENST00000534846.1_Missense_Mutation_p.P652Q|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		754						extracellular region		p.P754Q(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CATTGTGTTTGGCAATTTGGC	0.408000													37	99					3.62531e-18	5.40434e-18	0.004289	1	0
ACTA1	58	broad.mit.edu	37	1	229567267	229567267	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:229567267G>T	ENST00000366684.3	-	7	1215	c.1113C>A	c.(1111-1113)atC>atA	p.I371I	ACTA1_ENST00000366683.2_Silent_p.I283I	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	371					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	p.I371I(1)		endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	TGCGGTGGACGATGGAAGGGC	0.612000													20	134					6.33239e-15	8.94222e-15	0.010504	1	0
MTBP	27085	broad.mit.edu	37	8	121483118	121483118	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:121483118A>C	ENST00000305949.1	+	11	1151	c.1106A>C	c.(1105-1107)aAc>aCc	p.N369T		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	369					cell cycle arrest			p.N369T(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CCACCTCCCAACCAACTCAGT	0.343000													6	76					0	0	0.001168	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307550	39307550	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:39307550G>C	ENST00000541347.1	-	2	690	c.451C>G	c.(451-453)Cta>Gta	p.L151V	CX3CR1_ENST00000358309.3_Missense_Mutation_p.L183V|CX3CR1_ENST00000399220.2_Missense_Mutation_p.L151V|CX3CR1_ENST00000542107.1_Missense_Mutation_p.L151V	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	151					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	p.L183V(1)|p.L151V(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CAGACGCCTAGGCTGATGGTG	0.547000													7	103					0	0	0.001984	0	0
TRBV11-2	28581	broad.mit.edu	37	7	142197762	142197762	+	RNA	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:142197762T>A	ENST00000471935.1	-	0	215																											CTGGTACCAGTAAAGGGTAGC	0.463000													32	47					0	0	0.002096	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146471396	146471396	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:146471396C>T	ENST00000361727.3	+	2	647	c.131C>T	c.(130-132)cCc>cTc	p.P44L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	44	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.P44L(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCTGGACTCCCCCATGTGGCT	0.443000										HNSCC(39;0.1)			5	27					0	0	0.000602	0	0
COL4A6	1288	broad.mit.edu	37	X	107430488	107430488	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:107430488G>T	ENST00000334504.7	-	23	2022	c.1789C>A	c.(1789-1791)Cca>Aca	p.P597T	COL4A6_ENST00000538570.1_Missense_Mutation_p.P597T|COL4A6_ENST00000394872.2_Missense_Mutation_p.P598T|COL4A6_ENST00000372216.4_Missense_Mutation_p.P598T|COL4A6_ENST00000545689.1_Missense_Mutation_p.P597T	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	598	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.P597T(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTTTCACCTGGGAAGCCCTGT	0.498000									Alport syndrome with Diffuse Leiomyomatosis				38	37					2.52449e-32	4.13268e-32	0.006999	1	0
FSCN1	6624	broad.mit.edu	37	7	5632887	5632887	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:5632887C>A	ENST00000382361.3	+	1	434	c.320C>A	c.(319-321)gCg>gAg	p.A107E	FSCN1_ENST00000340250.6_Missense_Mutation_p.A86E	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)	107					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging	p.A107E(1)		central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CAGTCCGAGGCGCACCGGCGC	0.697000													10	19					0.00829132	0.0087884	0.008291	1	0
FSHR	2492	broad.mit.edu	37	2	49190767	49190767	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:49190767C>A	ENST00000406846.2	-	10	1312	c.1193G>T	c.(1192-1194)aGg>aTg	p.R398M	FSHR_ENST00000304421.4_Missense_Mutation_p.R372M|FSHR_ENST00000541117.1_Missense_Mutation_p.R134M|FSHR_ENST00000346173.3_Missense_Mutation_p.R336M	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	398					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.R398M(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CATAAGGAACCTGGGGACTGT	0.458000									Gonadal Dysgenesis, 46 XX				20	52					4.96729e-08	6.05667e-08	0.008871	1	0
OR13G1	441933	broad.mit.edu	37	1	247835474	247835474	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:247835474C>G	ENST00000359688.2	-	1	891	c.870G>C	c.(868-870)caG>caC	p.Q290H	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q290H(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCTCCCTATTCTGGAAGCTGT	0.448000													30	114					0	0	0.008361	0	0
OR14K1	343170	broad.mit.edu	37	1	247902345	247902345	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:247902345G>C	ENST00000283225.2	+	1	429	c.429G>C	c.(427-429)atG>atC	p.M143I	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1									p.M143I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						TCCAGTTGATGGCTCTGTCCT	0.517000													8	130					0	0	0.003080	0	0
CTPS1	1503	broad.mit.edu	37	1	41474345	41474345	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:41474345G>A	ENST00000372621.4	+	15	1916	c.1408G>A	c.(1408-1410)Gac>Aac	p.D470N	CTPS1_ENST00000541520.1_Missense_Mutation_p.D239N|CTPS1_ENST00000372616.1_Missense_Mutation_p.D470N	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN	CTP synthase 1	470	Glutamine amidotransferase type-1.				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	p.D470N(2)		endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	ACTCTATGGAGACGCAGACTA	0.473000													8	116					0	0	0.004482	0	0
SLC12A7	10723	broad.mit.edu	37	5	1085503	1085503	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:1085503T>A	ENST00000264930.5	-	7	804	c.761A>T	c.(760-762)tAc>tTc	p.Y254F		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	254					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	p.Y254F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCACGTGCCGTACACACGCAT	0.647000													4	24					0	0	0.009096	0	0
OC90	729330	broad.mit.edu	37	8	133036911	133036911	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:133036911C>A	ENST00000262283.5	-	18	1986	c.1887G>T	c.(1885-1887)ggG>ggT	p.G629G	OC90_ENST00000443356.2_Silent_p.G433G|OC90_ENST00000603859.1_Silent_p.G417G|OC90_ENST00000254627.3_Silent_p.G417G			Q02509	OC90_HUMAN	otoconin 90	433					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	p.G391V(1)|p.G629V(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GCCCAGGGCACCCGAGTCTGC	0.637000													15	15					6.72482e-11	8.8201e-11	0.003163	1	0
NLRP3	114548	broad.mit.edu	37	1	247582216	247582216	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:247582216C>A	ENST00000366497.2	+	2	900	c.120C>A	c.(118-120)ccC>ccA	p.P40P	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Silent_p.P40P|NLRP3_ENST00000336119.3_Silent_p.P40P|NLRP3_ENST00000348069.2_Silent_p.P40P|NLRP3_ENST00000391827.2_Silent_p.P40P|NLRP3_ENST00000391828.3_Silent_p.P40P	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	40	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.P40P(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCTGCATCCCCCTCCCGAGGG	0.567000													13	39					0.00185496	0.00199487	0.001855	1	0
MECOM	2122	broad.mit.edu	37	3	168830608	168830608	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:168830608C>A	ENST00000464456.1	-	8	3180	c.1980G>T	c.(1978-1980)ttG>ttT	p.L660F	MECOM_ENST00000472280.1_Missense_Mutation_p.L661F|MECOM_ENST00000392736.3_Missense_Mutation_p.L660F|MECOM_ENST00000433243.2_Missense_Mutation_p.L661F|MECOM_ENST00000264674.3_Missense_Mutation_p.L725F|MECOM_ENST00000494292.1_Missense_Mutation_p.L848F|MECOM_ENST00000460814.1_Missense_Mutation_p.L660F|MECOM_ENST00000468789.1_Missense_Mutation_p.L660F	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity	p.L660F(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GAGAAGGCCTCAAGTATTTCT	0.363000													49	126					4.44712e-29	7.2001e-29	0.003610	1	0
BMP10	27302	broad.mit.edu	37	2	69098276	69098276	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:69098276G>T	ENST00000295379.1	-	1	373	c.215C>A	c.(214-216)cCc>cAc	p.P72H		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	72					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding	p.P72H(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						ATCCTGCGTGGGGATGTCAGA	0.473000													69	125					5.00936e-31	8.17024e-31	0.003610	1	0
SEC22B	9554	broad.mit.edu	37	1	145109526	145109526	+	RNA	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:145109526A>G	ENST00000453618.1	+	0	515							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CTCACCAGCTACATTATTGAG	0.378000													9	400					0	0	0.004482	0	0
LOC645752	645752	broad.mit.edu	37	15	78211609	78211609	+	RNA	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:78211609T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							ATCTTGTAGCTGTTCCACCAC	0.567000													13	132					0	0	0.001855	0	0
KLHL12	59349	broad.mit.edu	37	1	202887329	202887329	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:202887329C>A	ENST00000367261.3	-	4	755	c.537G>T	c.(535-537)gtG>gtT	p.V179V	KLHL12_ENST00000435533.3_Silent_p.V217V	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	179					Wnt receptor signaling pathway		protein binding	p.V179V(1)		NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTAGCTTTTCCACCTCTCCTT	0.413000													24	182					2.48779e-11	3.28731e-11	0.005443	1	0
MYL7	58498	broad.mit.edu	37	7	44180373	44180373	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:44180373A>T	ENST00000458240.1	-	2	338	c.50T>A	c.(49-51)aTc>aAc	p.I17N	MYL7_ENST00000223364.3_Missense_Mutation_p.I44N|MYL7_ENST00000434895.1_5'UTR			Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	44					actin filament-based movement|smooth muscle contraction	A band|myosin complex	ATPase activity, coupled|calcium ion binding|microfilament motor activity	p.I44N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						ATTCTGGTCGATACAGCTGAA	0.647000													8	14					0	0	0.008291	0	0
PAXBP1	94104	broad.mit.edu	37	21	34117199	34117199	+	Silent	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr21:34117199A>G	ENST00000331923.4	-	13	2283	c.2094T>C	c.(2092-2094)ccT>ccC	p.P698P	PAXBP1_ENST00000290178.4_Silent_p.P698P	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1									p.P698P(1)									TTGTAGAAAAAGGGTCCCACA	0.328000													3	122					0	0	0.004672	0	0
OR4K5	79317	broad.mit.edu	37	14	20389640	20389640	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:20389640G>C	ENST00000315915.4	+	1	900	c.875G>C	c.(874-876)aGg>aCg	p.R292T		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R292T(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTAAGGAATAGGGATATGAAG	0.403000													6	183					0	0	0.001984	0	0
DMD	1756	broad.mit.edu	37	X	32632526	32632526	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:32632526T>A	ENST00000357033.4	-	12	1582	c.1376A>T	c.(1375-1377)gAg>gTg	p.E459V	DMD_ENST00000288447.4_Missense_Mutation_p.E451V|DMD_ENST00000378677.2_Missense_Mutation_p.E455V	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	459					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.E459V(1)|p.E454V(1)|p.E455V(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTCATTCAACTCTTTCAGTTT	0.363000													6	20					0	0	0.001168	0	0
KIFC3	3801	broad.mit.edu	37	16	57804605	57804605	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr16:57804605A>C	ENST00000379655.4	-	7	1030	c.773T>G	c.(772-774)aTc>aGc	p.I258S	KIFC3_ENST00000543930.1_Missense_Mutation_p.I119S|KIFC3_ENST00000539578.1_Missense_Mutation_p.I200S|KIFC3_ENST00000562903.1_Missense_Mutation_p.I119S|KIFC3_ENST00000541240.1_Missense_Mutation_p.I280S|KIFC3_ENST00000540079.2_Missense_Mutation_p.I156S|KIFC3_ENST00000445690.2_Missense_Mutation_p.I258S|KIFC3_ENST00000465878.2_Missense_Mutation_p.I119S|KIFC3_ENST00000421376.2_Missense_Mutation_p.I119S	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	258					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	p.I258S(1)		breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CACTGTCTTGATGACATACTG	0.632000													2	5					0	0	0.004672	0	0
PYHIN1	149628	broad.mit.edu	37	1	158911812	158911812	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:158911812A>T	ENST00000368140.1	+	5	870	c.625A>T	c.(625-627)Att>Ttt	p.I209F	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.I200F|PYHIN1_ENST00000392254.2_Missense_Mutation_p.I209F|PYHIN1_ENST00000368138.3_Missense_Mutation_p.I200F	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	209	HIN-200.				cell cycle	nuclear speck		p.I209F(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CAGTAAAAATATTTTCCGAGA	0.363000													24	22					0	0	0.002780	0	0
CUBN	8029	broad.mit.edu	37	10	16980992	16980992	+	Silent	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:16980992T>C	ENST00000377833.4	-	38	5768	c.5703A>G	c.(5701-5703)gaA>gaG	p.E1901E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1901	CUB 13.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.E1901E(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGTTTTGTATTTCTTCTATGT	0.358000													30	62					0	0	0.003271	0	0
B3GAT1	27087	broad.mit.edu	37	11	134251899	134251899	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:134251899C>T	ENST00000524765.1	-	5	5482	c.938G>A	c.(937-939)cGg>cAg	p.R313Q	B3GAT1_ENST00000312527.4_Missense_Mutation_p.R313Q|B3GAT1_ENST00000392580.1_Missense_Mutation_p.R313Q|B3GAT1_ENST00000537389.1_Missense_Mutation_p.R326Q			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	313					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	p.R313Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CTTCTCTGTCCGTGTGTGCCA	0.597000													7	51					0	0	0.003080	0	0
ALMS1	7840	broad.mit.edu	37	2	73679254	73679254	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:73679254A>G	ENST00000264448.6	+	8	5708	c.5597A>G	c.(5596-5598)gAt>gGt	p.D1866G	ALMS1_ENST00000377715.1_Missense_Mutation_p.D1866G|ALMS1_ENST00000409009.1_Missense_Mutation_p.D1824G	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1866	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.D1866G(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAGTTGCCAGATCTTACTGAA	0.468000													23	77					0	0	0.001882	0	0
CCDC83	220047	broad.mit.edu	37	11	85627137	85627137	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:85627137G>A	ENST00000280245.4	+	11	1546	c.1034G>A	c.(1033-1035)aGc>aAc	p.S345N	CCDC83_ENST00000376067.1_Missense_Mutation_p.S214N|CCDC83_ENST00000342404.3_Missense_Mutation_p.S314N	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	314								p.S345N(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TCAGATGAGAGCACTATCTTA	0.373000													28	159					0	0	0.006320	0	0
POM121L12	285877	broad.mit.edu	37	7	53104131	53104131	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:53104131T>A	ENST00000408890.4	+	1	783	c.767T>A	c.(766-768)cTg>cAg	p.L256Q		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	256								p.L256Q(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCTTCCGTGCTGGTCCAGCCC	0.647000													10	61					0	0	0.006214	0	0
TRIM49C	642612	broad.mit.edu	37	11	89774486	89774486	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:89774486G>T	ENST00000448984.1	+	8	1456	c.1127G>T	c.(1126-1128)gGa>gTa	p.G376V	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	376	B30.2/SPRY.					intracellular	zinc ion binding	p.G376V(2)		endometrium(3)|kidney(1)|lung(4)	8						GGAAAGGAGGGACTCTTTCTT	0.443000													24	87					1.64293e-13	2.26576e-13	0.003330	1	0
MYO5B	4645	broad.mit.edu	37	18	47429071	47429071	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr18:47429071C>T	ENST00000285039.7	-	21	3003	c.2704G>A	c.(2704-2706)Gag>Aag	p.E902K	MYO5B_ENST00000324581.6_Missense_Mutation_p.E43K	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	902	Arg-rich.|IQ 6.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.E902K(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GCCTTCAGCTCCCGCCTGGCC	0.622000													15	37					0	0	0.003163	0	0
OR52K2	119774	broad.mit.edu	37	11	4470615	4470615	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:4470615T>G	ENST00000325719.4	+	1	91	c.46T>G	c.(46-48)Ttg>Gtg	p.L16V		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L16V(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCCTTCTTGTTGGTGGGGAT	0.512000													11	100					0	0	0.001368	0	0
PTCRA	171558	broad.mit.edu	37	6	42893278	42893278	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:42893278G>A	ENST00000304672.1	+	4	785	c.704G>A	c.(703-705)gGg>gAg	p.G235E	PTCRA_ENST00000441198.1_Missense_Mutation_p.G210E|PTCRA_ENST00000446507.1_Missense_Mutation_p.G128E	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	235						integral to membrane	receptor activity	p.G235E(1)		large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CCAGTATGGGGGGAAGGGTCT	0.647000													3	5					0	0	0.004672	0	0
OR8J3	81168	broad.mit.edu	37	11	55904398	55904398	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:55904398T>C	ENST00000301529.1	-	1	796	c.797A>G	c.(796-798)cAc>cGc	p.H266R		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H266R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ATCCAGTGAGTGGTTGGTTTG	0.418000													20	95					0	0	0.001882	0	0
RNLS	55328	broad.mit.edu	37	10	90341368	90341368	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:90341368G>A	ENST00000371947.3	-	3	1662	c.323C>T	c.(322-324)cCt>cTt	p.P108L	RNLS_ENST00000331772.4_Missense_Mutation_p.P108L|RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Intron	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	108						extracellular region	oxidoreductase activity	p.P108L(1)		breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						AATTCCTTGAGGTGCCACAAA	0.353000													10	40					0	0	0.008291	0	0
OR5B21	219968	broad.mit.edu	37	11	58275014	58275014	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:58275014C>A	ENST00000360374.2	-	1	564	c.565G>T	c.(565-567)Gac>Tac	p.D189Y		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D189Y(1)|p.D189H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATGCGTGTGTCAGAGCATGAG	0.463000													21	43					3.8784e-16	5.65761e-16	0.001882	1	0
TEC	7006	broad.mit.edu	37	4	48152932	48152932	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:48152932C>T	ENST00000381501.3	-	10	977	c.820G>A	c.(820-822)Gat>Aat	p.D274N	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	274	SH2.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.D274N(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TGACTGGAATCCCTTACCATA	0.333000													34	125					0	0	0.004878	0	0
PXDN	7837	broad.mit.edu	37	2	1652063	1652063	+	Silent	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:1652063C>G	ENST00000252804.4	-	17	3539	c.3489G>C	c.(3487-3489)cgG>cgC	p.R1163R		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1163					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.R1163R(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCCCGTGGTCCCGGCCCCGCT	0.597000													39	133					0	0	0.004878	0	0
VRK2	7444	broad.mit.edu	37	2	58366863	58366863	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:58366863C>T	ENST00000435505.2	+	14	1664	c.919C>T	c.(919-921)Caa>Taa	p.Q307*	VRK2_ENST00000440705.2_Nonsense_Mutation_p.Q284*|VRK2_ENST00000417641.2_Nonsense_Mutation_p.Q307*|VRK2_ENST00000340157.4_Nonsense_Mutation_p.Q307*|VRK2_ENST00000412104.2_Nonsense_Mutation_p.Q307*			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	307	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.Q307*(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						GCCAAACTATCAAGCCCTCAA	0.348000													13	61					0	0	0.001368	0	0
PPM1A	5494	broad.mit.edu	37	14	60712664	60712664	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:60712664G>A	ENST00000325642.3	+	1	195	c.99G>A	c.(97-99)aaG>aaA	p.K33K	CTD-2184C24.2_ENST00000529171.1_RNA|PPM1A_ENST00000529574.1_5'UTR	NM_177952.2	NP_808821.2	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	90					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity	p.K33K(1)		cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		gggcaaagaaggcaaaaagag	0.388000													6	9					0	0	0.001168	0	0
RNF216	54476	broad.mit.edu	37	7	5662683	5662683	+	Silent	SNP	C	C	G	rs139859373		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:5662683C>G	ENST00000425013.2	-	17	2633	c.2409G>C	c.(2407-2409)gcG>gcC	p.A803A	RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Silent_p.A860A	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	803	Pro-rich.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	p.A860G(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AGGGTGGGTGCGCGAAGGCAT	0.662000													47	152					0	0	0.003610	0	0
LDHC	3948	broad.mit.edu	37	11	18434318	18434318	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:18434318C>G	ENST00000541669.1	+	2	165	c.54C>G	c.(52-54)aaC>aaG	p.N18K	LDHC_ENST00000535809.1_Missense_Mutation_p.N18K|LDHC_ENST00000546146.1_Missense_Mutation_p.N18K|LDHC_ENST00000280704.4_Missense_Mutation_p.N18K|LDHC_ENST00000544105.1_Missense_Mutation_p.N18K|LDHC_ENST00000537486.1_Missense_Mutation_p.N18K|LDHC_ENST00000536880.1_Missense_Mutation_p.N18K			P07864	LDHC_HUMAN	lactate dehydrogenase C	18					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	p.N18K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	ATGATGAAAACTCCCAGTGTA	0.423000													30	41					0	0	0.007291	0	0
ALDH3B2	222	broad.mit.edu	37	11	67432005	67432005	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:67432005C>A	ENST00000349015.3	-	8	1173	c.735G>T	c.(733-735)gaG>gaT	p.E245D	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.E245D	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	245					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	p.E245D(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	CAGGCTCCGTCTCCTGCACGT	0.657000													20	58					0.00121646	0.00131141	0.008871	1	0
ZFHX4	79776	broad.mit.edu	37	8	77766681	77766681	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:77766681G>T	ENST00000521891.2	+	10	7972	c.7524G>T	c.(7522-7524)tgG>tgT	p.W2508C	ZFHX4_ENST00000455469.2_Missense_Mutation_p.W2463C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.W2463C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.W2482C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2463						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W2492C(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGGAACTCTGGCAGGAACACC	0.473000										HNSCC(33;0.089)			28	152					9.39395e-14	1.29754e-13	0.006320	1	0
EBF3	253738	broad.mit.edu	37	10	131666158	131666158	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:131666158G>A	ENST00000368648.3	-	9	845	c.773C>T	c.(772-774)gCc>gTc	p.A258V	EBF3_ENST00000355311.5_Missense_Mutation_p.A267V	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	267					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	p.A258V(1)|p.A267V(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGGACTGATGGCCTTGATGCA	0.607000													12	31					0	0	0.001855	0	0
NPR3	4883	broad.mit.edu	37	5	32712584	32712584	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:32712584C>A	ENST00000265074.8	+	1	1045	c.702C>A	c.(700-702)taC>taA	p.Y234*	NPR3_ENST00000415167.2_Nonsense_Mutation_p.Y234*|NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415685.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	234					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	p.Y234*(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CGTCCATCTACAGTTTCGACG	0.607000													54	197					3.50607e-19	5.27103e-19	0.003610	1	0
NEFL	4747	broad.mit.edu	37	8	24813237	24813237	+	RNA	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:24813237A>T	ENST00000221169.5	-	0	1387							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton	p.Y265N(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGCTTCTCGTACTGCGCGCGG	0.632000													4	30					0	0	0.009096	0	0
OR5D18	219438	broad.mit.edu	37	11	55588013	55588013	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:55588013C>T	ENST00000333976.4	+	1	928	c.908C>T	c.(907-909)aCc>aTc	p.T303I		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T303I(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GATACAGTCACCGAGATACTG	0.398000													25	50					0	0	0.003330	0	0
CAD	790	broad.mit.edu	37	2	27446491	27446491	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:27446491G>A	ENST00000264705.4	+	7	1032	c.870G>A	c.(868-870)ctG>ctA	p.L290L	CAD_ENST00000403525.1_Silent_p.L290L	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	290	GATase (Glutamine amidotransferase).|Glutamine amidotransferase type-1.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	p.L290L(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GCTGCTTTCTGACATCCCAGA	0.567000													13	270					0	0	0.001368	0	0
PABPC1	26986	broad.mit.edu	37	8	101721762	101721762	+	Silent	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:101721762T>A	ENST00000318607.5	-	8	2298	c.1170A>T	c.(1168-1170)cgA>cgT	p.R390R	PABPC1_ENST00000522387.1_Silent_p.R358R|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Silent_p.R345R	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	390					mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	p.R390R(1)		breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TGGGAACAGCTCGTACACTTG	0.502000													25	157					0	0	0.003330	0	0
EPB41L3	23136	broad.mit.edu	37	18	5394781	5394781	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr18:5394781C>G	ENST00000341928.2	-	22	3505	c.3165G>C	c.(3163-3165)caG>caC	p.Q1055H	EPB41L3_ENST00000542146.1_Missense_Mutation_p.Q360H|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000427684.2_Missense_Mutation_p.Q352H|EPB41L3_ENST00000540638.2_Missense_Mutation_p.Q833H|EPB41L3_ENST00000342933.3_Missense_Mutation_p.Q1055H|EPB41L3_ENST00000400111.3_Missense_Mutation_p.Q833H|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1055	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.Q1055H(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTTTAATTGCCTGAGCCAGCG	0.493000													4	159					0	0	0.009096	0	0
DNAH9	1770	broad.mit.edu	37	17	11778317	11778317	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:11778317G>A	ENST00000262442.3	+	53	10362	c.10294G>A	c.(10294-10296)Gat>Aat	p.D3432N	DNAH9_ENST00000454412.2_Missense_Mutation_p.D3432N|RP11-628O18.1_ENST00000579621.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3432	AAA 5 (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.D3432N(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)		GCTGATGGATGATGCTGACGT	0.582000													36	56					0	0	0.003755	0	0
DDX27	55661	broad.mit.edu	37	20	47838011	47838011	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:47838011G>A	ENST00000371764.4	+	2	218	c.209G>A	c.(208-210)cGa>cAa	p.R70Q	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	70	Asp/Glu/Lys-rich.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.R70Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTGGGCAGACGACAAAAAGCT	0.527000													10	38					0	0	0.008291	0	0
VPS28	51160	broad.mit.edu	37	8	145650186	145650186	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:145650186G>T	ENST00000377348.2	-	7	406	c.317C>A	c.(316-318)gCc>gAc	p.A106D	VPS28_ENST00000529182.1_Missense_Mutation_p.A106D|VPS28_ENST00000526054.1_Missense_Mutation_p.A106D|VPS28_ENST00000292510.4_Missense_Mutation_p.A106D	NM_183057.1	NP_898880.1	Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	106	VPS28 N-terminal.				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding	p.A106D(2)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCGCTCCATGGCCAGCGGGCA	0.667000													13	65					6.31663e-08	7.68074e-08	0.003163	1	0
IRX2	153572	broad.mit.edu	37	5	2749627	2749627	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:2749627T>A	ENST00000382611.6	-	2	772	c.524A>T	c.(523-525)gAg>gTg	p.E175V	IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.E175V	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	175						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E175V(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CATCTTGTTCTCCTTCTTGAG	0.602000													32	130					0	0	0.004289	0	0
ABCB10	23456	broad.mit.edu	37	1	229661863	229661863	+	Splice_Site	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:229661863C>A	ENST00000344517.4	-	10	1768	c.1725_splice	c.e10-1	p.E576_splice		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	576	ABC transporter.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	p.?(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				AAAATGGGTTCCTACAAATTG	0.363000													18	79					8.00594e-06	9.21517e-06	0.007413	1	0
ANO10	55129	broad.mit.edu	37	3	43618386	43618386	+	Silent	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:43618386T>A	ENST00000292246.3	-	6	1130	c.960A>T	c.(958-960)ccA>ccT	p.P320P	ANO10_ENST00000350459.4_Intron|ANO10_ENST00000396091.3_Silent_p.P254P|ANO10_ENST00000451430.2_Silent_p.P209P|ANO10_ENST00000414522.2_Silent_p.P320P	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	320					cell death	chloride channel complex	chloride channel activity	p.P320P(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						GGCACACGAATGGCAGGGAGA	0.498000													26	35					0	0	0.004656	0	0
BTAF1	9044	broad.mit.edu	37	10	93784522	93784522	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:93784522G>T	ENST00000265990.6	+	35	5181	c.4873G>T	c.(4873-4875)Gac>Tac	p.D1625Y	BTAF1_ENST00000544642.1_Missense_Mutation_p.D453Y	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1625					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	p.D1625Y(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GTTGCTGTTGGACTGCGGTTT	0.428000													17	56					6.49762e-13	8.90526e-13	0.006122	1	0
OR5M8	219484	broad.mit.edu	37	11	56258013	56258013	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:56258013G>T	ENST00000327216.2	-	1	858	c.834C>A	c.(832-834)acC>acA	p.T278T		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T278T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GGATTACTGTGGTATAAAATA	0.343000													13	79					4.3838e-07	5.20172e-07	0.001855	1	0
RGS1	5996	broad.mit.edu	37	1	192547357	192547357	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:192547357C>A	ENST00000367459.3	+	4	352	c.286C>A	c.(286-288)Caa>Aaa	p.Q96K	RGS1_ENST00000469578.2_Missense_Mutation_p.Q96K	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	96	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	p.Q83K(1)|p.Q96K(1)		kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				TTTAGCTGGTCAAAATGTCTT	0.333000													28	143					3.90053e-15	5.55244e-15	0.002445	1	0
MTMR7	9108	broad.mit.edu	37	8	17188770	17188770	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:17188770C>G	ENST00000180173.5	-	7	788	c.754G>C	c.(754-756)Gct>Cct	p.A252P	MTMR7_ENST00000521857.1_Missense_Mutation_p.A252P	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	252	Myotubularin phosphatase.|Substrate binding (By similarity).						protein tyrosine phosphatase activity	p.A252T(1)|p.A252P(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TTCCCTGCAGCACGATTTGCC	0.383000													12	39					0	0	0.001368	0	0
OR5T1	390155	broad.mit.edu	37	11	56043784	56043784	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:56043784C>A	ENST00000313033.2	+	1	756	c.670C>A	c.(670-672)Ctg>Atg	p.L224M		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L224M(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					AGTCACTATCCTGATTGTCCT	0.428000													53	207					4.25531e-23	6.64611e-23	0.003610	1	0
FAM153B	202134	broad.mit.edu	37	5	175528581	175528581	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:175528581G>T	ENST00000253490.4	+	12	718	c.661G>T	c.(661-663)Gaa>Taa	p.E221*	FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000515817.1_Nonsense_Mutation_p.E144*|FAM153B_ENST00000510151.1_Nonsense_Mutation_p.E144*			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	221								p.E221K(1)|p.E221*(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		CACACTGGCCGAACGTACGTA	0.463000													51	106					2.27459e-33	3.73743e-33	0.003610	1	0
LGI3	203190	broad.mit.edu	37	8	22005941	22005941	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:22005941T>A	ENST00000306317.2	-	8	1668	c.1379A>T	c.(1378-1380)cAg>cTg	p.Q460L	LGI3_ENST00000424267.2_Missense_Mutation_p.Q436L	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	460					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		p.Q460L(1)		endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GGGCAGGGCCTGCACCTCCGA	0.652000													4	21					0	0	0.009096	0	0
GPR158	57512	broad.mit.edu	37	10	25886724	25886724	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:25886724C>A	ENST00000376351.3	+	11	2528	c.2169C>A	c.(2167-2169)gcC>gcA	p.A723A	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	723						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A723A(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AACTCTATGCCCAACTGGAAA	0.418000													38	84					2.05212e-20	3.13853e-20	0.005524	1	0
CCDC40	55036	broad.mit.edu	37	17	78013808	78013808	+	Silent	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:78013808T>C	ENST00000397545.4	+	3	318	c.291T>C	c.(289-291)taT>taC	p.Y97Y	CCDC40_ENST00000374877.3_Silent_p.Y97Y|CCDC40_ENST00000269318.5_Silent_p.Y97Y|CCDC40_ENST00000374876.4_Silent_p.Y97Y	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	97					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		p.Y97Y(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AATATTACTATACAGAAACTT	0.512000													5	72					0	0	0.000602	0	0
UACA	55075	broad.mit.edu	37	15	70961608	70961608	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:70961608G>A	ENST00000322954.6	-	16	1600	c.1415C>T	c.(1414-1416)gCa>gTa	p.A472V	UACA_ENST00000539319.1_Missense_Mutation_p.A363V|UACA_ENST00000560441.1_Missense_Mutation_p.A457V|UACA_ENST00000379983.2_Missense_Mutation_p.A459V	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	472						cytoskeleton|extracellular region		p.A459V(1)|p.A472V(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TTTGCATTCTGCCACTTTGTG	0.383000													70	115					0	0	0.003610	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141370270	141370270	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:141370270C>A	ENST00000389328.4	-	9	1682	c.1668G>T	c.(1666-1668)gcG>gcT	p.A556A	TRAPPC9_ENST00000389327.3_Silent_p.A449A|TRAPPC9_ENST00000438773.2_Silent_p.A458A	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	458					cell differentiation	endoplasmic reticulum|Golgi apparatus		p.A556A(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GCATCTGGACCGCAGCCCAGC	0.512000													16	42					1.15088e-07	1.38043e-07	0.004007	1	0
CDH10	1008	broad.mit.edu	37	5	24487955	24487955	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:24487955G>A	ENST00000264463.4	-	12	2691	c.2184C>T	c.(2182-2184)ccC>ccT	p.P728P	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	728					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P728P(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGTCGTAGGGGGGTGCGGTGG	0.453000										HNSCC(23;0.051)			14	211					0	0	0.002450	0	0
OR8J1	219477	broad.mit.edu	37	11	56127836	56127836	+	Silent	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:56127836C>G	ENST00000303039.3	+	1	146	c.114C>G	c.(112-114)acC>acG	p.T38T		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T38T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					ATGGGCTGACCATGGCAGGGA	0.493000													49	166					0	0	0.003610	0	0
ZNF337	26152	broad.mit.edu	37	20	25657370	25657370	+	Missense_Mutation	SNP	C	C	G	rs140373318		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:25657370C>G	ENST00000376436.1	-	4	1093	c.554G>C	c.(553-555)cGt>cCt	p.R185P	ZNF337_ENST00000252979.5_Missense_Mutation_p.R185P|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.R153P					zinc finger protein 337									p.R185P(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTCTTGCCCACGCTCTGCACA	0.428000													42	167					0	0	0.008740	0	0
FBXO4	26272	broad.mit.edu	37	5	41927303	41927303	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:41927303G>T	ENST00000296812.2	+	2	434	c.378G>T	c.(376-378)aaG>aaT	p.K126N	FBXO4_ENST00000509134.1_Missense_Mutation_p.K126N|FBXO4_ENST00000281623.3_Missense_Mutation_p.K126N	NM_033484.2	NP_277019.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	126					positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	p.K126N(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TCTTAAAAAAGCCTATATCTG	0.343000													32	171					2.09667e-21	3.23465e-21	0.003755	1	0
CDH15	1013	broad.mit.edu	37	16	89245971	89245971	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr16:89245971C>A	ENST00000289746.2	+	2	255	c.190C>A	c.(190-192)Ccc>Acc	p.P64T	CDH15_ENST00000521087.1_3'UTR	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	64	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	p.P64T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		TCTCCCCTACCCCCTGGTTCA	0.677000													27	73					1.04121e-07	1.25914e-07	0.005443	1	0
WIZ	58525	broad.mit.edu	37	19	15535040	15535040	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:15535040T>C	ENST00000389282.4	-	9	4963	c.4750A>G	c.(4750-4752)Aca>Gca	p.T1584A	WIZ_ENST00000599910.1_Missense_Mutation_p.T901A|WIZ_ENST00000599686.2_Missense_Mutation_p.T768A|WIZ_ENST00000263381.6_Missense_Mutation_p.T727A|WIZ_ENST00000545156.1_Missense_Mutation_p.T898A			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1584						nucleus	zinc ion binding	p.T1584A(1)|p.T727A(1)|p.T898A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						ACAAGTGATGTCTGGGGGGGC	0.647000													3	10					0	0	0.009096	0	0
CPNE9	151835	broad.mit.edu	37	3	9768831	9768831	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:9768831G>T	ENST00000383832.3	+	20	1627	c.1437G>T	c.(1435-1437)gtG>gtT	p.V479V	CPNE9_ENST00000383831.3_Silent_p.V479V	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	479	VWFA.							p.V479V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					ATGTGCGCGTGTCCTCTAGGG	0.597000													23	85					2.48779e-11	3.28731e-11	0.005443	1	0
BTN2A2	10385	broad.mit.edu	37	6	26392494	26392494	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:26392494C>G	ENST00000432533.2	+	7	828	c.742C>G	c.(742-744)Cta>Gta	p.L248V	BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000352867.2_Intron|BTN2A2_ENST00000416795.2_Intron|BTN2A2_ENST00000356709.4_Intron|BTN2A2_ENST00000469230.1_Intron			Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	0					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		p.L248V(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						GAAACGGCCACTACATGGGGA	0.552000													4	14					0	0	0.009096	0	0
AGT	183	broad.mit.edu	37	1	230846486	230846486	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:230846486G>A	ENST00000366667.4	-	2	325	c.111C>T	c.(109-111)taC>taT	p.Y37Y	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	37					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	p.Y37Y(1)		endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	AGGGGTGTATGTACACCCGGT	0.622000													35	57					0	0	0.002445	0	0
CPA5	93979	broad.mit.edu	37	7	130008265	130008265	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:130008265A>C	ENST00000485477.1	+	12	2267	c.1138A>C	c.(1138-1140)Atc>Ctc	p.I380L	CPA5_ENST00000461828.1_Missense_Mutation_p.I380L|CPA5_ENST00000474905.1_Missense_Mutation_p.I380L|CPA5_ENST00000431780.2_Silent_p.G351G|CPA5_ENST00000393213.3_Missense_Mutation_p.I380L|CPA5_ENST00000466363.2_Missense_Mutation_p.I380L|CPA5_ENST00000355388.3_Missense_Mutation_p.I380L			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	380					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	p.I380L(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GGCCAGTGGGATCACCGTCGA	0.547000													7	65					0	0	0.007835	0	0
PRSS16	10279	broad.mit.edu	37	6	27222627	27222627	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:27222627G>C	ENST00000230582.3	+	10	1321	c.1306G>C	c.(1306-1308)Gct>Cct	p.A436P	PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Missense_Mutation_p.A179P	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	436					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	p.A436P(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GACCCCTGGGGCTAACAAAGT	0.552000													14	177					0	0	0.001855	0	0
PLIN4	729359	broad.mit.edu	37	19	4517573	4517573	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:4517573C>T	ENST00000301286.3	-	1	143	c.144G>A	c.(142-144)caG>caA	p.Q48Q		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	48						lipid particle|plasma membrane		p.Q48Q(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CACCCTGAGCCTGTGGTTGGG	0.701000													7	10					0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	9062533	9062533	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:9062533C>A	ENST00000397910.4	-	3	25116	c.24913G>T	c.(24913-24915)Gtg>Ttg	p.V8305L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8307	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V8305L(2)|p.V3938L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGTTATCACCAGGCCAGGG	0.502000													35	57					6.90743e-12	9.32239e-12	0.003755	1	0
CEACAM5	1048	broad.mit.edu	37	19	42213867	42213867	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:42213867C>T	ENST00000221992.6	+	2	447	c.333C>T	c.(331-333)aaC>aaT	p.N111N	CEACAM5_ENST00000398599.4_Silent_p.N111N|CEA_ENST00000598976.1_Silent_p.N111N|CEACAM5_ENST00000405816.1_Silent_p.N111N	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	111	Ig-like 1.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		p.N111N(1)		breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TGATCCAGAACATCATCCAGA	0.453000													24	290					0	0	0.003954	0	0
ALK	238	broad.mit.edu	37	2	29551274	29551274	+	Silent	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:29551274C>G	ENST00000389048.3	-	6	2262	c.1356G>C	c.(1354-1356)ggG>ggC	p.G452G	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	452	LDL-receptor class A.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.G452G(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CACAGGCCTGCCCAAGCTGGA	0.602000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				9	65					0	0	0.006214	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918205	51918205	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:51918205G>T	ENST00000356298.5	-	8	1604	c.1488C>A	c.(1486-1488)ccC>ccA	p.P496P	SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000441969.3_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000339313.5_Silent_p.P496P|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000439889.2_Silent_p.P438P	NM_033130.4	NP_149121.2	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	496					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	p.P438P(1)|p.P496P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CGGCTGAGCTGGGGGTGACCT	0.711000													19	22					1.45105e-14	2.03608e-14	0.006122	1	0
LGR5	8549	broad.mit.edu	37	12	71953410	71953410	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:71953410G>T	ENST00000266674.5	+	7	1072	c.761G>T	c.(760-762)aGg>aTg	p.R254M	LGR5_ENST00000536515.1_Missense_Mutation_p.R182M|LGR5_ENST00000540815.2_Missense_Mutation_p.R254M			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	254						integral to plasma membrane	protein-hormone receptor activity	p.R254M(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						ACTGCAATTAGGACACTCTCC	0.269000													14	30					1.15088e-07	1.38043e-07	0.004007	1	0
DUSP7	1849	broad.mit.edu	37	3	52088240	52088240	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:52088240C>T	ENST00000495880.1	-	2	851	c.668G>A	c.(667-669)cGa>cAa	p.R223Q	DUSP7_ENST00000296483.6_Missense_Mutation_p.R172Q			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	223	Ser-rich.				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity	p.R172Q(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGGCAGCTCTCGGTCCGACTC	0.677000													46	33					0	0	0.009718	0	0
KCNN4	3783	broad.mit.edu	37	19	44273904	44273904	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:44273904G>T	ENST00000262888.3	-	5	1292	c.897C>A	c.(895-897)caC>caA	p.H299Q		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	299	Calmodulin-binding.				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding	p.H299Q(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	TCATGAAGTTGTGCACGTGCT	0.592000													46	61					6.27289e-28	1.00276e-27	0.003610	1	0
TBX15	6913	broad.mit.edu	37	1	119427738	119427738	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:119427738G>T	ENST00000369429.3	-	8	1435	c.1426C>A	c.(1426-1428)Cag>Aag	p.Q476K	TBX15_ENST00000207157.3_Missense_Mutation_p.Q370K			Q96SF7	TBX15_HUMAN	T-box 15	476						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q370K(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)		TACTGAAACTGGGAAGTGGGA	0.567000													22	33					4.35082e-09	5.5102e-09	0.010504	1	0
PLIN4	729359	broad.mit.edu	37	19	4511819	4511819	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:4511819C>G	ENST00000301286.3	-	3	2110	c.2111G>C	c.(2110-2112)aGt>aCt	p.S704T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	704	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane		p.S632T(1)|p.S704T(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GGTGTCCACACTGGTCTGGAC	0.607000													4	378					0	0	0.000602	0	0
KPRP	448834	broad.mit.edu	37	1	152732911	152732911	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:152732911C>A	ENST00000368773.1	+	2	905	c.847C>A	c.(847-849)Ctg>Atg	p.L283M	KPRP_ENST00000606109.1_Missense_Mutation_p.L283M	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	283	Pro-rich.					cytoplasm		p.Y282_L283>*(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCAGCTACCTGCCACTAAG	0.597000													46	60					3.76604e-16	5.50277e-16	0.002522	1	0
NGEF	25791	broad.mit.edu	37	2	233745956	233745956	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:233745956G>T	ENST00000264051.3	-	14	2120	c.1842C>A	c.(1840-1842)tgC>tgA	p.C614*	NGEF_ENST00000539537.1_Nonsense_Mutation_p.C337*|NGEF_ENST00000373552.4_Nonsense_Mutation_p.C522*	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	614	SH3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	p.C614*(2)		central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GGACCTGGGGGCAGTCTGAGG	0.627000													17	50					6.94344e-10	8.98683e-10	0.006122	1	0
ALMS1	7840	broad.mit.edu	37	2	73659341	73659341	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:73659341G>T	ENST00000264448.6	+	7	1465	c.1354G>T	c.(1354-1356)Gaa>Taa	p.E452*	ALMS1_ENST00000409009.1_Nonsense_Mutation_p.E410*|ALMS1_ENST00000377715.1_Nonsense_Mutation_p.E452*	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	452					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.E452*(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAGAGAGTCGGAATATCACTC	0.393000													22	74					1.50039e-11	2.00052e-11	0.001882	1	0
COL19A1	1310	broad.mit.edu	37	6	70886415	70886415	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:70886415G>A	ENST00000322773.4	+	42	2728	c.2626G>A	c.(2626-2628)Gat>Aat	p.D876N	COL19A1_ENST00000393344.1_Missense_Mutation_p.D498N	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	876	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.D876N(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCAACAGGGAGATCGAGGCCC	0.378000													5	44					0	0	0.000602	0	0
CUL7	9820	broad.mit.edu	37	6	43014777	43014777	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:43014777C>T	ENST00000535468.1	-	10	2576	c.2490G>A	c.(2488-2490)ctG>ctA	p.L830L	CUL7_ENST00000265348.3_Silent_p.L746L|CUL7_ENST00000478630.1_5'UTR	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	746	DOC.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	p.L746L(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCAGCTGATTCAGCACCACGG	0.567000													18	142					0	0	0.008871	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590281	140590281	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:140590281G>T	ENST00000239450.2	+	1	1991	c.1802G>T	c.(1801-1803)tGg>tTg	p.W601L	PCDHB12_ENST00000541609.1_Missense_Mutation_p.W264L	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		601	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.W601L(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGAACGCCTGGCTGTCGTAC	0.721000													22	193					3.65163e-15	5.20652e-15	0.006320	1	0
ZFP3	124961	broad.mit.edu	37	17	4996298	4996298	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:4996298G>C	ENST00000318833.3	+	2	1835	c.1499G>C	c.(1498-1500)tGt>tCt	p.C500S		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	500					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C500S(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						AGTGTTCACTGTATGGAGTAA	0.393000													6	53					0	0	0.001168	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773838	35773838	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:35773838G>T	ENST00000360215.1	+	1	768	c.391G>T	c.(391-393)Gca>Tca	p.A131S	LHFPL5_ENST00000373853.1_Missense_Mutation_p.A131S	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	131						integral to membrane		p.A131S(1)		endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TAAGATCTGTGCATGGATGCA	0.587000													29	21					4.87955e-14	6.79295e-14	0.005443	1	0
ABCB5	340273	broad.mit.edu	37	7	20762679	20762679	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:20762679C>G	ENST00000404938.2	+	21	3114	c.2462C>G	c.(2461-2463)aCt>aGt	p.T821S	ABCB5_ENST00000258738.6_Missense_Mutation_p.T376S	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	376					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.T376S(1)|p.T821S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAAAATGCAACTAACATGGGA	0.378000													11	142					0	0	0.001855	0	0
GPR26	2849	broad.mit.edu	37	10	125426441	125426441	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:125426441C>T	ENST00000284674.1	+	1	571	c.518C>T	c.(517-519)aCt>aTt	p.T173I		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	173					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T173I(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GCCGTCTTCACTGGCGCCTTC	0.667000													4	13					0	0	0.000602	0	0
CEP89	84902	broad.mit.edu	37	19	33424517	33424517	+	Silent	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:33424517T>A	ENST00000305768.4	-	8	814	c.726A>T	c.(724-726)gcA>gcT	p.A242A	CEP89_ENST00000590597.1_Silent_p.A242A	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	242						centrosome|spindle pole		p.A242A(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CTTCTTTTAATGCCTCAAACT	0.318000													9	179					0	0	0.004482	0	0
KCTD3	51133	broad.mit.edu	37	1	215793486	215793486	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:215793486G>C	ENST00000259154.4	+	18	2268	c.1974G>C	c.(1972-1974)agG>agC	p.R658S	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	658						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.R658S(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TATTAGCAAGGGCAAGAAGGA	0.433000													19	71					0	0	0.007413	0	0
OR10G2	26534	broad.mit.edu	37	14	22102704	22102704	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:22102704A>T	ENST00000542433.1	-	1	392	c.295T>A	c.(295-297)Ttt>Att	p.F99I		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F99I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CAGCCACCAAACGGGATAGCC	0.498000													7	36					0	0	0.003080	0	0
R3HDM1	23518	broad.mit.edu	37	2	136362452	136362452	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:136362452A>T	ENST00000264160.4	+	3	407	c.37A>T	c.(37-39)Act>Tct	p.T13S	R3HDM1_ENST00000410054.1_Intron|R3HDM1_ENST00000409478.1_Missense_Mutation_p.T13S|R3HDM1_ENST00000409606.1_Missense_Mutation_p.T13S|R3HDM1_ENST00000329971.3_Missense_Mutation_p.T13S	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	13							nucleic acid binding	p.T13S(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		AAAAGATGAAACTGCAACAAT	0.333000													25	33					0	0	0.003330	0	0
CDH23	64072	broad.mit.edu	37	10	73455252	73455252	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:73455252G>T	ENST00000224721.6	+	21	2387	c.2382G>T	c.(2380-2382)gaG>gaT	p.E794D	CDH23_ENST00000299366.7_Missense_Mutation_p.E834D	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	789	Cadherin 8.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.E794D(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACCTGGTGGAGATGACCCCTC	0.597000													9	39					0.00829132	0.0087884	0.008291	1	0
OSGIN2	734	broad.mit.edu	37	8	90926858	90926858	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:90926858C>A	ENST00000451899.2	+	4	672	c.412C>A	c.(412-414)Cat>Aat	p.H138N	OSGIN2_ENST00000297438.2_Missense_Mutation_p.H94N|OSGIN2_ENST00000520659.1_Missense_Mutation_p.H138N	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	94					germ cell development|meiosis			p.H94N(1)|p.H138N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TACACTTCTTCATCCAGATGC	0.433000													5	133					0.00116845	0.00126118	0.001168	1	0
MYOM2	9172	broad.mit.edu	37	8	2007299	2007299	+	Missense_Mutation	SNP	C	C	A	rs142466938	byFrequency	TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:2007299C>A	ENST00000262113.4	+	6	727	c.586C>A	c.(586-588)Cag>Aag	p.Q196K	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	196	Ig-like C2-type 1.				muscle contraction	myosin filament	structural constituent of muscle	p.Q196K(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCTGATTTGCCAGGCGGCTGA	0.512000													28	53					1.75199e-13	2.41239e-13	0.007291	1	0
EME2	197342	broad.mit.edu	37	16	1825092	1825092	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr16:1825092C>T	ENST00000307394.7	+	4	528	c.528C>T	c.(526-528)gcC>gcT	p.A176A	EME2_ENST00000568449.1_Silent_p.A176A			A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	176					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	p.A210A(1)|p.A176A(1)		central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						AGACCACCGCCCGGCCCCACC	0.647000								Direct reversal of damage;Homologous recombination					15	136					0	0	0.004007	0	0
ZNF831	128611	broad.mit.edu	37	20	57829259	57829259	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:57829259G>T	ENST00000371030.2	+	5	4495	c.4495G>T	c.(4495-4497)Gtg>Ttg	p.V1499L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1499						intracellular	nucleic acid binding|zinc ion binding	p.V1499L(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)					TTCTCTGCCAGTGAGAACAGA	0.507000													51	76					7.84493e-40	1.30356e-39	0.003610	1	0
CNKSR2	22866	broad.mit.edu	37	X	21609267	21609267	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:21609267G>T	ENST00000425654.2	+	14	2175	c.1695G>T	c.(1693-1695)tgG>tgT	p.W565C	CNKSR2_ENST00000379510.3_Missense_Mutation_p.W595C|CNKSR2_ENST00000543067.1_Missense_Mutation_p.W546C|CNKSR2_ENST00000279451.4_Missense_Mutation_p.W595C	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	595					regulation of signal transduction	cytoplasm|membrane	protein binding	p.W595C(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AAAAATATTGGTTTGTCCTAA	0.363000													46	51					2.43468e-25	3.85709e-25	0.003610	1	0
PCDH11X	27328	broad.mit.edu	37	X	91873528	91873528	+	Silent	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:91873528A>G	ENST00000373094.1	+	7	4478	c.3633A>G	c.(3631-3633)ccA>ccG	p.P1211P	PCDH11X_ENST00000298274.8_Silent_p.P1174P|PCDH11X_ENST00000373097.1_Silent_p.P1201P|PCDH11X_ENST00000406881.1_Silent_p.P1203P|PCDH11X_ENST00000373088.1_Silent_p.P1174P|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000361655.2_Silent_p.P1193P	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1211					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.P1211P(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCCACAGCCCACCACCGATAC	0.597000													10	60					0	0	0.008291	0	0
KRTAP6-3	337968	broad.mit.edu	37	21	31964947	31964947	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr21:31964947G>A	ENST00000391624.1	+	1	189	c.162G>A	c.(160-162)ctG>ctA	p.L54L		NM_181605.3	NP_853636.3			keratin associated protein 6-3									p.L54L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						atggaggcctgggctgtggct	0.617000													25	26					0	0	0.006320	0	0
STK32B	55351	broad.mit.edu	37	4	5141635	5141635	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:5141635A>T	ENST00000282908.5	+	2	478	c.56A>T	c.(55-57)aAc>aTc	p.N19I	STK32B_ENST00000510398.1_5'UTR|STK32B_ENST00000512636.1_5'UTR	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	19							ATP binding|metal ion binding|protein serine/threonine kinase activity	p.N19I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						TTTGCAGTCAACTTTGACCAT	0.383000													5	165					0	0	0.001168	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103442278	103442278	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:103442278G>A	ENST00000361246.2	-	10	1617	c.1329C>T	c.(1327-1329)taC>taT	p.Y443Y		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	443					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.Y443Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TCCTCCTCTCGTAAGCTTCCA	0.607000													5	82					0	0	0.000602	0	0
AP3B2	8120	broad.mit.edu	37	15	83349905	83349905	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:83349905G>C	ENST00000261722.3	-	6	754	c.547C>G	c.(547-549)Ctg>Gtg	p.L183V	AP3B2_ENST00000535348.1_Missense_Mutation_p.L151V|AP3B2_ENST00000535359.1_Missense_Mutation_p.L183V|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	183					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	p.L183V(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			ACTTCTATCAGCTGATCCTTC	0.572000													4	17					0	0	0.009096	0	0
RP1	6101	broad.mit.edu	37	8	55533900	55533900	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:55533900G>T	ENST00000220676.1	+	2	522	c.374G>T	c.(373-375)cGg>cTg	p.R125L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	125					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.R125L(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CGGCGCCCGCGGCCCTGGCTC	0.706000													16	75					3.99206e-14	5.56621e-14	0.007413	1	0
SMCHD1	23347	broad.mit.edu	37	18	2751313	2751313	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr18:2751313C>T	ENST00000320876.6	+	33	4541	c.4203C>T	c.(4201-4203)atC>atT	p.I1401I	SMCHD1_ENST00000261598.8_Silent_p.I1401I|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1401					chromosome organization		ATP binding	p.I1401I(2)|p.I849I(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ATGACAGTATCATTAAAAACA	0.338000													11	36					0	0	0.008291	0	0
PDGFRB	5159	broad.mit.edu	37	5	149501587	149501587	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:149501587C>A	ENST00000261799.4	-	16	2669	c.2200G>T	c.(2200-2202)Ggg>Tgg	p.G734W		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	734	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	p.G734W(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCGCTCTCCCCGGTCAAGGAC	0.562000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								19	22					2.4624e-09	3.14107e-09	0.008871	1	0
PYHIN1	149628	broad.mit.edu	37	1	158908969	158908969	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:158908969A>G	ENST00000368140.1	+	4	756	c.511A>G	c.(511-513)Aca>Gca	p.T171A	PYHIN1_ENST00000392252.3_Missense_Mutation_p.T162A|PYHIN1_ENST00000392254.2_Missense_Mutation_p.T171A|PYHIN1_ENST00000368135.4_Missense_Mutation_p.T171A|PYHIN1_ENST00000368138.3_Missense_Mutation_p.T162A	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	171					cell cycle	nuclear speck		p.T171A(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CAGCACGTCCACAGCCATGGG	0.517000													48	68					0	0	0.003610	0	0
SIK1	150094	broad.mit.edu	37	21	44845963	44845963	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr21:44845963G>T	ENST00000270162.6	-	2	228	c.96C>A	c.(94-96)acC>acA	p.T32T		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	32	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.T32T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CTTTGCCCAGGGTCCGCTCGA	0.682000													3	11					0.004672	0.00497596	0.004672	1	0
ARPC1B	10095	broad.mit.edu	37	7	98985702	98985702	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:98985702C>A	ENST00000451682.1	+	6	519	c.210C>A	c.(208-210)tgC>tgA	p.C70*	ARPC1B_ENST00000474880.1_3'UTR|ARPC1A_ENST00000432884.2_3'UTR|ARPC1B_ENST00000252725.5_Nonsense_Mutation_p.C70*			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	70					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton	p.C70*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TTGTGACCTGCGGCACAGACC	0.642000													16	55					3.45872e-05	3.89491e-05	0.004007	1	0
MAP3K7	6885	broad.mit.edu	37	6	91257081	91257081	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:91257081C>G	ENST00000369329.3	-	11	1267	c.1106G>C	c.(1105-1107)gGa>gCa	p.G369A	MAP3K7_ENST00000369320.1_Missense_Mutation_p.G50A|MAP3K7_ENST00000369332.3_Missense_Mutation_p.G369A|MAP3K7_ENST00000369325.3_Missense_Mutation_p.G369A|MAP3K7_ENST00000369327.3_Missense_Mutation_p.G369A	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	369					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	p.G369A(2)		endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		ACGGGAGGCTCCCAAGCTTAA	0.473000													73	102					0	0	0.003610	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060244	35060244	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:35060244C>T	ENST00000373913.3	+	3	604	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	DLGAP4_ENST00000339266.5_Missense_Mutation_p.R42C|DLGAP4_ENST00000373907.2_Missense_Mutation_p.R42C|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R42C			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	42					cell-cell signaling	membrane	protein binding	p.R42C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GGCCTTCGCCCGCGAGGCCCG	0.697000													20	35					0	0	0.010504	0	0
CXCR2P1	3580	broad.mit.edu	37	2	218925443	218925443	+	RNA	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:218925443G>C	ENST00000439871.1	-	0	937					NR_002712.1																						GCGTATGCAGGGTGAATCTGT	0.532000													17	64					0	0	0.004007	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140724427	140724427	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:140724427A>C	ENST00000253812.6	+	1	827	c.827A>C	c.(826-828)cAa>cCa	p.Q276P	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1												p.Q276P(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAATGCTCAAGTGTCTTAT	0.448000													24	19					0	0	0.002299	0	0
MYT1	4661	broad.mit.edu	37	20	62839102	62839102	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:62839102G>T	ENST00000536311.1	+	7	917	c.553G>T	c.(553-555)Ggc>Tgc	p.G185C	MYT1_ENST00000328439.1_Missense_Mutation_p.G185C|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	185					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G185C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGAGGACTTGGGCCAGGCGGC	0.592000													16	80					3.41278e-10	4.43662e-10	0.004990	1	0
TRIM21	6737	broad.mit.edu	37	11	4406605	4406605	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:4406605G>A	ENST00000254436.7	-	7	1450	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	TRIM21_ENST00000543625.1_Silent_p.F446F	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	446	B30.2/SPRY.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.F446F(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		AACCAGGACTGAAGAAGGGCC	0.488000													5	32					0	0	0.000602	0	0
SRMS	6725	broad.mit.edu	37	20	62172184	62172184	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:62172184C>A	ENST00000217188.1	-	8	1494	c.1454G>T	c.(1453-1455)aGa>aTa	p.R485I		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	485	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity	p.R485I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	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)			GGGGTGGCATCTGTGGATGGC	0.682000													19	114					1.56452e-12	2.13103e-12	0.007413	1	0
CPS1	1373	broad.mit.edu	37	2	211542680	211542680	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:211542680A>G	ENST00000233072.5	+	38	4670	c.4474A>G	c.(4474-4476)Agg>Ggg	p.R1492G	CPS1_ENST00000430249.2_Missense_Mutation_p.R1498G|CPS1_ENST00000451903.2_Missense_Mutation_p.R1041G	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1492					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.R1498G(1)|p.R1492G(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TTTCCACTACAGGCAGTACAG	0.443000													24	207					0	0	0.003330	0	0
KRT19	3880	broad.mit.edu	37	17	39684318	39684318	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:39684318T>C	ENST00000361566.3	-	1	242	c.182A>G	c.(181-183)tAc>tGc	p.Y61C		NM_002276.4	NP_002267.2			keratin 19									p.Y61C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				GCCGCCGCCGTAGGCCCCCGA	0.716000													19	31					0	0	0.008871	0	0
NUDCD1	84955	broad.mit.edu	37	8	110255340	110255340	+	Silent	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:110255340T>C	ENST00000239690.4	-	10	2024	c.1650A>G	c.(1648-1650)ctA>ctG	p.L550L	NUDCD1_ENST00000427660.2_Silent_p.L521L	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	550								p.L550L(1)		breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CATTGGTTTCTAGGCTTGCTA	0.378000													79	271					0	0	0.003610	0	0
LZTS1	11178	broad.mit.edu	37	8	20110354	20110354	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:20110354A>T	ENST00000381569.1	-	3	1445	c.1088T>A	c.(1087-1089)cTc>cAc	p.L363H	LZTS1_ENST00000522290.1_Missense_Mutation_p.L363H|LZTS1_ENST00000265801.6_Missense_Mutation_p.L363H			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	363					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.L363H(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GTAGGACCTGAGCTTGGTCTC	0.642000													8	28					0	0	0.008291	0	0
SLIT3	6586	broad.mit.edu	37	5	168098301	168098301	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:168098301G>T	ENST00000519560.1	-	34	4448	c.4029C>A	c.(4027-4029)tgC>tgA	p.C1343*	SLIT3_ENST00000404867.3_Nonsense_Mutation_p.C1343*|SLIT3_ENST00000332966.8_Nonsense_Mutation_p.C1350*	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1343	EGF-like 7.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.C1343*(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCACGGAGCGGCACAGGCCGT	0.677000													15	23					0.000566183	0.000617909	0.004990	1	0
MYH7	4625	broad.mit.edu	37	14	23884905	23884905	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:23884905C>G	ENST00000355349.3	-	35	5252	c.5090G>C	c.(5089-5091)cGg>cCg	p.R1697P		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1697					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.R1697P(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)		CTTCCGGGACCGCTCTGTCTG	0.622000													13	51					0	0	0.001855	0	0
APPBP2	10513	broad.mit.edu	37	17	58571945	58571945	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:58571945C>A	ENST00000083182.3	-	3	548	c.261G>T	c.(259-261)atG>atT	p.M87I		NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	87					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	p.M87I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			CACCATGATCCATCAAAGCCT	0.348000													40	40					9.58827e-17	1.40798e-16	0.003610	1	0
KLHL20	27252	broad.mit.edu	37	1	173726252	173726252	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:173726252G>A	ENST00000209884.4	+	7	1241	c.1105G>A	c.(1105-1107)Gca>Aca	p.A369T	KLHL20_ENST00000546011.1_Missense_Mutation_p.A180T	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	369					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	p.A369T(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TCTGTTATATGCAGTAGGAGG	0.393000													28	92					0	0	0.007291	0	0
MCCC1	56922	broad.mit.edu	37	3	182775145	182775145	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:182775145C>A	ENST00000492597.1	-	7	1202	c.500G>T	c.(499-501)tGt>tTt	p.C167F	MCCC1_ENST00000539926.1_Missense_Mutation_p.C141F|MCCC1_ENST00000265594.4_Missense_Mutation_p.C276F			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	276	ATP-grasp.|Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	p.C276F(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CTGCACACTACAGTCTCTTTC	0.413000													9	23					1.76689e-08	2.17843e-08	0.006214	1	0
CHRNB4	1143	broad.mit.edu	37	15	78922232	78922232	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:78922232C>T	ENST00000261751.3	-	5	526	c.415G>A	c.(415-417)Ggc>Agc	p.G139S	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	139					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.G139C(1)|p.G139S(1)		endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						AGGACGCTGCCGTTGGACCGG	0.572000													3	51					0	0	0.004672	0	0
OR4B1	119765	broad.mit.edu	37	11	48238557	48238557	+	Silent	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:48238557T>C	ENST00000309562.2	+	1	214	c.196T>C	c.(196-198)Ttg>Ctg	p.L66L		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L66L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CTGCCTGTCCTTGGTGGAGAT	0.483000													68	123					0	0	0.003610	0	0
PTPRB	5787	broad.mit.edu	37	12	71016262	71016262	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:71016262C>A	ENST00000334414.6	-	3	660	c.616G>T	c.(616-618)Gag>Tag	p.E206*	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.E206*|PTPRB_ENST00000551525.1_Nonsense_Mutation_p.E205*	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.E206*(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)			TGCTGCCTCTCGCTGCTGTTT	0.468000													23	31					7.87624e-14	1.09475e-13	0.002780	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33596156	33596156	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:33596156C>T	ENST00000504830.1	-	17	2872	c.2537G>A	c.(2536-2538)cGc>cAc	p.R846H	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R761H|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	846	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R846H(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGCAGTTTGGCGGCGGATACC	0.517000										HNSCC(64;0.19)			13	178					0	0	0.001855	0	0
XCL2	6846	broad.mit.edu	37	1	168510285	168510285	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:168510285T>G	ENST00000367819.2	-	3	282	c.250A>C	c.(250-252)Atg>Ctg	p.M84L		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	84					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	p.M84L(1)		large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					TTCCTGTCCATGCTCCTGACC	0.483000													6	63					0	0	0.001984	0	0
GLT8D2	83468	broad.mit.edu	37	12	104393245	104393245	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:104393245A>G	ENST00000360814.4	-	6	737	c.332T>C	c.(331-333)gTg>gCg	p.V111A	GLT8D2_ENST00000548660.1_Missense_Mutation_p.V111A|GLT8D2_ENST00000546436.1_Missense_Mutation_p.V111A	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	111						integral to membrane	transferase activity, transferring glycosyl groups	p.V111A(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						GTTGAATTCCACGATTTTAAA	0.428000													56	47					0	0	0.003610	0	0
ASTN2	23245	broad.mit.edu	37	9	120053691	120053691	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:120053691G>T	ENST00000313400.4	-	2	644	c.544C>A	c.(544-546)Cag>Aag	p.Q182K	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.Q182K|ASTN2_ENST00000373996.3_Missense_Mutation_p.Q182K			O75129	ASTN2_HUMAN	astrotactin 2	182						integral to membrane		p.Q182K(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TGGGCCAGCTGCCCGGAGCTG	0.602000													43	33					1.8453e-21	2.85182e-21	0.002522	1	0
ZNF556	80032	broad.mit.edu	37	19	2878065	2878065	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:2878065A>G	ENST00000586426.1	+	4	1193	c.1106A>G	c.(1105-1107)tAt>tGt	p.Y369C	ZNF556_ENST00000307635.2_Missense_Mutation_p.Y370C			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y370C(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGAAAGTCTATAAATGTGAA	0.478000													13	22					0	0	0.001368	0	0
UNC13B	10497	broad.mit.edu	37	9	35310542	35310542	+	Silent	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:35310542T>C	ENST00000378495.3	+	9	1062	c.840T>C	c.(838-840)taT>taC	p.Y280Y	UNC13B_ENST00000378496.4_Silent_p.Y280Y|UNC13B_ENST00000396787.1_Silent_p.Y292Y	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	280					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	p.Y280Y(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TAGACCAGTATCACGAACAAG	0.507000													19	195					0	0	0.006122	0	0
GAD2	2572	broad.mit.edu	37	10	26575391	26575391	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:26575391G>C	ENST00000376261.3	+	13	1857	c.1354G>C	c.(1354-1356)Gtt>Ctt	p.V452L	GAD2_ENST00000259271.3_Missense_Mutation_p.V452L	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	452					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.V452L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CCACGTTGATGTTTTTAAACT	0.438000													29	46					0	0	0.006320	0	0
TTC37	9652	broad.mit.edu	37	5	94839593	94839593	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:94839593G>A	ENST00000358746.2	-	31	3440	c.3142C>T	c.(3142-3144)Ctt>Ttt	p.L1048F		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1048							binding	p.L1048F(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AACACTTCAAGGGGTGTTGAC	0.363000													18	42					0	0	0.008871	0	0
NBPF10	100132406	broad.mit.edu	37	1	145293563	145293563	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:145293563A>G	ENST00000342960.5	+	1	193	c.158A>G	c.(157-159)aAc>aGc	p.N53S	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Missense_Mutation_p.N53S	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	53								p.N53S(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTCCTGGCCAACCGACAGAAG	0.448000													37	740					0	0	0.008740	0	0
MTOR	2475	broad.mit.edu	37	1	11297961	11297961	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:11297961C>T	ENST00000361445.4	-	13	2223	c.2147G>A	c.(2146-2148)gGc>gAc	p.G716D		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	716					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.G716D(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						ACTGAGTCGGCCCACAGTGCA	0.572000													4	73					0	0	0.009096	0	0
B4GALNT4	338707	broad.mit.edu	37	11	376276	376276	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:376276A>T	ENST00000329962.6	+	13	1222	c.1222A>T	c.(1222-1224)Atg>Ttg	p.M408L		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	408						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	p.M408L(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATACATGAAGATGGACAAGGA	0.672000													8	38					0	0	0.004482	0	0
DAB1	1600	broad.mit.edu	37	1	57480745	57480745	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:57480745G>T	ENST00000371236.2	-	12	1518	c.1255C>A	c.(1255-1257)Cag>Aag	p.Q419K	DAB1_ENST00000420954.2_Missense_Mutation_p.Q417K|DAB1_ENST00000439789.2_Missense_Mutation_p.Q333K|DAB1_ENST00000371231.1_Missense_Mutation_p.Q452K|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.Q419K|DAB1_ENST00000414851.2_Missense_Mutation_p.Q401K			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	452					cell differentiation|nervous system development			p.Q419K(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGGGCCATCTGGAAATCCTTA	0.597000													9	51					3.09899e-07	3.69205e-07	0.004482	1	0
MKI67	4288	broad.mit.edu	37	10	129913427	129913427	+	Silent	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:129913427T>C	ENST00000368654.3	-	7	1620	c.1245A>G	c.(1243-1245)ccA>ccG	p.P415P	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	415					cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.P415P(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGAGATTTTCTGGCTTAGTGG	0.433000													25	61					0	0	0.003330	0	0
ROBO3	64221	broad.mit.edu	37	11	124745497	124745497	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:124745497G>A	ENST00000397801.1	+	15	2529	c.2337G>A	c.(2335-2337)ttG>ttA	p.L779L	ROBO3_ENST00000538940.1_Silent_p.L757L	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	779	Fibronectin type-III 3.				axon midline choice point recognition	integral to membrane	receptor activity	p.L779L(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CGGTGGCCTTGGGGGGTGATG	0.607000													16	34					0	0	0.004007	0	0
DOCK5	80005	broad.mit.edu	37	8	25101272	25101272	+	Splice_Site	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:25101272G>A	ENST00000276440.7	+	2	170	c.127_splice	c.e2+1	p.E42_splice	DOCK5_ENST00000481100.1_Splice_Site_p.E42_splice|DOCK5_ENST00000410074.1_Splice_Site_p.E42_splice	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	42	SH3.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.G43C(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)		AGATGTACGAGGGTAAGTCTG	0.428000													5	17					0	0	0.000602	0	0
KIF19	124602	broad.mit.edu	37	17	72350426	72350426	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:72350426C>A	ENST00000389916.4	+	18	2572	c.2434C>A	c.(2434-2436)Ctg>Atg	p.L812M		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	812					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L812M(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CAGCCTGTCCCTGCACTCACT	0.711000													27	32					7.38237e-10	9.52703e-10	0.006320	1	0
URI1	8725	broad.mit.edu	37	19	30476162	30476162	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:30476162G>A	ENST00000542441.2	+	3	482	c.185G>A	c.(184-186)cGa>cAa	p.R62Q	URI1_ENST00000360605.4_Missense_Mutation_p.R44Q|URI1_ENST00000392271.1_5'UTR|URI1_ENST00000312051.6_Missense_Mutation_p.R22Q			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	62					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	p.R62Q(1)									AATGCCCTTCGAGAAAGACTC	0.274000													14	180					0	0	0.004990	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58551818	58551818	+	Splice_Site	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:58551818T>C	ENST00000282326.1	+	4	618	c.370_splice	c.e4-1	p.V124_splice		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	124					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V124A(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TCCCGCACAGTTCTGGTATCT	0.587000													20	133					0	0	0.010504	0	0
MBP	4155	broad.mit.edu	37	18	74701954	74701954	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr18:74701954C>A	ENST00000355994.2	-	5	902	c.639G>T	c.(637-639)cgG>cgT	p.R213R	MBP_ENST00000382582.3_Silent_p.R106R|MBP_ENST00000397869.3_Silent_p.R80R|MBP_ENST00000579129.1_Silent_p.R213R|MBP_ENST00000359645.3_Silent_p.R106R|MBP_ENST00000354542.4_Intron|MBP_ENST00000397875.3_Silent_p.R80R|MBP_ENST00000397866.4_Silent_p.R80R|MBP_ENST00000580402.1_Silent_p.R213R|MBP_ENST00000578193.1_Silent_p.R80R|MBP_ENST00000526111.1_Silent_p.R58R|MBP_ENST00000527041.1_Intron|MBP_ENST00000397865.5_Silent_p.R80R|MBP_ENST00000528160.1_Intron	NM_001025101.1	NP_001020272.1	P02686	MBP_HUMAN	myelin basic protein	213	Induces experimental autoimmune encephalomyelitis (EAE) 1.				central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath	p.R213R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		CATCTTGGGTCCGGCCGTGTG	0.577000													19	69					2.94398e-08	3.61958e-08	0.007413	1	0
OR4C15	81309	broad.mit.edu	37	11	55321892	55321892	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:55321892A>G	ENST00000314644.2	+	1	110	c.110A>G	c.(109-111)aAt>aGt	p.N37S		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N37S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTTTGTCCTAATTGCAGACTA	0.378000										HNSCC(20;0.049)			63	133					0	0	0.003610	0	0
SEMA6C	10500	broad.mit.edu	37	1	151115074	151115074	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:151115074C>G	ENST00000341697.3	-	3	1715	c.24G>C	c.(22-24)atG>atC	p.M8I				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	8						integral to membrane	receptor activity	p.M8I(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCAGCAAGGGCATGAAGTGGG	0.637000													26	29					0	0	0.003330	0	0
STAG1	10274	broad.mit.edu	37	3	136078061	136078061	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:136078061C>T	ENST00000383202.2	-	27	3121	c.2865G>A	c.(2863-2865)ctG>ctA	p.L955L	STAG1_ENST00000434713.2_Silent_p.L695L|STAG1_ENST00000536929.1_Silent_p.L539L|STAG1_ENST00000236698.5_Silent_p.L955L	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	955					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.L955L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AGCGACGTGCCAGTTCTTTAA	0.413000													29	25					0	0	0.007291	0	0
KRTAP5-6	440023	broad.mit.edu	37	11	1718521	1718521	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:1718521G>T	ENST00000382160.1	+	1	97	c.46G>T	c.(46-48)Ggc>Tgc	p.G16C		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	16						keratin filament		p.G16C(1)		endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CGGCTGTGGGGGCTGTGGCTC	0.652000													45	175					1.30916e-28	2.10802e-28	0.003610	1	0
STK35	140901	broad.mit.edu	37	20	2097734	2097734	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:2097734G>T	ENST00000381482.3	+	3	1586	c.1315G>T	c.(1315-1317)Gcc>Tcc	p.A439S	STK35_ENST00000246032.3_Missense_Mutation_p.A306S|STK35_ENST00000400064.3_Intron			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	439	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity	p.A439S(1)		large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						GGACATCTTTGCCCTGGGCAT	0.498000													41	56					1.47197e-15	2.11237e-15	0.007835	1	0
TECPR1	25851	broad.mit.edu	37	7	97862145	97862145	+	Silent	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:97862145C>G	ENST00000447648.2	-	12	2111	c.1812G>C	c.(1810-1812)gtG>gtC	p.V604V	TECPR1_ENST00000542604.1_Silent_p.V534V|TECPR1_ENST00000379795.3_Silent_p.V605V			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	604						integral to membrane	protein binding	p.V604V(1)		central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCACCTGCTCCACGGCCTGCT	0.567000													7	11					0	0	0.001984	0	0
NF1	4763	broad.mit.edu	37	17	29527486	29527486	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:29527486G>C	ENST00000358273.4	+	9	1318	c.935G>C	c.(934-936)gGa>gCa	p.G312A	NF1_ENST00000356175.3_Missense_Mutation_p.G312A|NF1_ENST00000431387.4_Missense_Mutation_p.G312A	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	312					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)|p.G312A(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGCCATGGAGGAAGTAGGCAG	0.383000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			20	38					0	0	0.002299	0	0
CDK6	1021	broad.mit.edu	37	7	92244466	92244466	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:92244466C>T	ENST00000265734.4	-	8	1380	c.969G>A	c.(967-969)ctG>ctA	p.L323L	CDK6_ENST00000424848.2_Silent_p.L323L	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	323					cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	p.L323L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AGGCTGTATTCAGCTCCGAGG	0.587000			T	MLLT10	ALL								12	33					0	0	0.001368	0	0
ZNF716	441234	broad.mit.edu	37	7	57528880	57528880	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:57528880A>T	ENST00000420713.1	+	4	825	c.713A>T	c.(712-714)gAg>gTg	p.E238V		NM_001159279.1	NP_001152751.1			zinc finger protein 716									p.E238V(2)		breast(1)|kidney(1)|lung(20)|ovary(2)	24						CATACTGGAGAGAAACCCTAC	0.378000													8	9					0	0	0.004482	0	0
PDK1	5163	broad.mit.edu	37	2	173435551	173435551	+	Splice_Site	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:173435551A>T	ENST00000410055.1	+	8	1044	c.945_splice	c.e8+1	p.K315_splice	PDK1_ENST00000282077.2_Splice_Site_p.K315_splice|PDK1_ENST00000544863.1_Splice_Site_p.K160_splice|PDK1_ENST00000392571.2_Splice_Site_p.K335_splice|PDK1_ENST00000543905.1_Splice_Site_p.K239_splice	NM_002610.3	NP_002601.1	Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	315	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	p.K315M(1)		central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			TTGACTGTGAAGGTAAATGTG	0.368000									Autosomal Dominant Polycystic Kidney Disease				19	20					0	0	0.006122	0	0
IGKV1D-42	28892	broad.mit.edu	37	2	90229080	90229080	+	RNA	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:90229080C>A	ENST00000390278.2	+	0	36																											CATGAGGGTCCCCGCTCAGCT	0.567000													38	146					6.31075e-24	9.90889e-24	0.003610	1	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													5	77					0	0	0.000602	0	0
CMYA5	202333	broad.mit.edu	37	5	79031289	79031289	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:79031289C>G	ENST00000446378.2	+	2	6732	c.6701C>G	c.(6700-6702)gCt>gGt	p.A2234G		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2234						perinuclear region of cytoplasm		p.A2234G(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAGAAACCAGCTGATCATTCA	0.388000													34	128					0	0	0.002836	0	0
MALAT1	378938	broad.mit.edu	37	11	65267694	65267694	+	RNA	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:65267694A>G	ENST00000534336.1	+	0	2462					NR_002819.2																						TGGAAGAGTTAGAAGAATTTG	0.333000													3	33					0	0	0.004672	0	0
COASY	80347	broad.mit.edu	37	17	40715990	40715990	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:40715990C>T	ENST00000393818.2	+	2	1168	c.712C>T	c.(712-714)Cct>Tct	p.P238S	COASY_ENST00000449624.1_5'UTR|COASY_ENST00000590958.1_Missense_Mutation_p.P267S|COASY_ENST00000421097.2_Missense_Mutation_p.P238S|COASY_ENST00000420359.1_Missense_Mutation_p.P238S	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	238	Phosphopantetheine adenylyltransferase.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity	p.P238S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CAAGTTGCTCCCTGAGCTGCT	0.498000													14	96					0	0	0.004007	0	0
LANCL3	347404	broad.mit.edu	37	X	37526534	37526534	+	Splice_Site	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:37526534G>T	ENST00000378621.3	+	4	1197		c.e4-1		TM4SF2_ENST00000465127.1_Intron|LANCL3_ENST00000378619.3_Splice_Site	NM_198511.2	NP_940913.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)								catalytic activity	p.?(2)		lung(4)|pancreas(1)	5						TGTTTTCACAGGAATTGCCTA	0.428000													19	14					8.28177e-16	1.19821e-15	0.007413	1	0
KRT38	8687	broad.mit.edu	37	17	39597003	39597003	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:39597003C>A	ENST00000246646.3	-	1	170	c.171G>T	c.(169-171)gtG>gtT	p.V57V		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	57	Head.					intermediate filament	structural molecule activity	p.V57V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GAGTGGACCCCACACGGACTC	0.632000													10	47					0.000673444	0.000731357	0.008291	1	0
BSG	682	broad.mit.edu	37	19	581345	581345	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:581345T>G	ENST00000333511.3	+	6	893	c.823T>G	c.(823-825)Ttc>Gtc	p.F275V	BSG_ENST00000353555.4_Missense_Mutation_p.F159V|BSG_ENST00000346916.4_Missense_Mutation_p.F95V|BSG_ENST00000545507.2_Missense_Mutation_p.F66V	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin	275	Ig-like V-type.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding	p.F95V(1)|p.F275V(1)		central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCAGGTTCTTCGTGAGTTC	0.637000													8	56					0	0	0.004482	0	0
MYOCD	93649	broad.mit.edu	37	17	12666801	12666801	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:12666801C>T	ENST00000425538.1	+	14	3001	c.2801C>T	c.(2800-2802)cCc>cTc	p.P934L	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Missense_Mutation_p.P886L	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	886					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.P934L(1)|p.P886L(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACTGAATCTCCCTGGGAAACC	0.547000													26	27					0	0	0.003954	0	0
RIMBP2	23504	broad.mit.edu	37	12	130907094	130907094	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:130907094G>C	ENST00000261655.4	-	13	2537	c.2374C>G	c.(2374-2376)Cca>Gca	p.P792A		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	792						cell junction|synapse		p.P792A(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCAGAGGCTGGGTTCCCTAAA	0.537000													4	27					0	0	0.009096	0	0
SYNM	23336	broad.mit.edu	37	15	99672530	99672530	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:99672530A>T	ENST00000336292.6	+	5	4082	c.3962A>T	c.(3961-3963)cAg>cTg	p.Q1321L	SYNM_ENST00000560674.1_Intron|SYNM_ENST00000328642.7_Intron|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1322	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	p.Q1321L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CAGACCACCCAGCAGATAGTT	0.562000													26	107					0	0	0.004656	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697591	17697591	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:17697591C>T	ENST00000399080.2	-	1	2115	c.2092G>A	c.(2092-2094)Gat>Aat	p.D698N		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	698								p.D698N(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAAATTTCATCCATGTCATCA	0.308000													16	70					0	0	0.003163	0	0
APOL4	80832	broad.mit.edu	37	22	36587462	36587462	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr22:36587462G>T	ENST00000332987.1	-	7	1127	c.705C>A	c.(703-705)gcC>gcA	p.A235A	APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000352371.1_Silent_p.A238A|APOL4_ENST00000405511.1_3'UTR			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	239					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding	p.A238A(1)		lung(1)	1						TCATTTTTGTGGCTTCGTCAA	0.448000													9	35					1.5739e-10	2.05817e-10	0.004007	1	0
RIPK4	54101	broad.mit.edu	37	21	43161678	43161678	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr21:43161678G>A	ENST00000352483.2	-	9	1883	c.1819C>T	c.(1819-1821)Cga>Tga	p.R607*	RIPK4_ENST00000542057.1_Nonsense_Mutation_p.R496*|RIPK4_ENST00000544709.1_Nonsense_Mutation_p.R496*|RIPK4_ENST00000332512.3_Nonsense_Mutation_p.R559*			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	559						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.R559*(1)|p.R607*(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCCACGCCTCGGCGCAGCAGG	0.662000													5	37					0	0	0.000602	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117959580	117959580	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:117959580G>T	ENST00000310164.2	+	4	880	c.373G>T	c.(373-375)Gaa>Taa	p.E125*		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	p.E125*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						tggggagtctgaaagcagtgt	0.517000													73	60					6.01781e-45	1.00753e-44	0.003610	1	0
ASIC3	9311	broad.mit.edu	37	7	150748263	150748263	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:150748263C>A	ENST00000357922.4	+	6	1665	c.1071C>A	c.(1069-1071)gcC>gcA	p.A357A	ASIC3_ENST00000349064.5_Silent_p.A357A|ASIC3_ENST00000297512.8_Silent_p.A357A	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	357					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	p.A357A(2)									CCGCAGATGCCATGCTTCGCA	0.751000													6	7					8.12818e-05	8.99288e-05	0.001984	1	0
FGF3	2248	broad.mit.edu	37	11	69631115	69631115	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:69631115C>G	ENST00000334134.2	-	2	387	c.297G>C	c.(295-297)atG>atC	p.M99I		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	99					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity	p.M99I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			CCCTCTTGTTCATGGCCAGGT	0.592000													5	92					0	0	0.001168	0	0
FAM166A	401565	broad.mit.edu	37	9	140139769	140139769	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:140139769C>T	ENST00000344774.4	-	3	566	c.512G>A	c.(511-513)aGg>aAg	p.R171K	FAM166A_ENST00000388932.2_Missense_Mutation_p.R171K	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	171								p.R171K(1)		kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						CTGGTGCTGCCTGGGGGCCTC	0.667000													24	29					0	0	0.002780	0	0
TENM3	55714	broad.mit.edu	37	4	183603130	183603130	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:183603130G>T	ENST00000511685.1	+	11	2121	c.1998G>T	c.(1996-1998)acG>acT	p.T666T	TENM3_ENST00000406950.2_Silent_p.T666T|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3									p.T666T(1)									GCTCCTGCACGTGTGACCCTA	0.473000													22	34					9.57634e-11	1.25415e-10	0.003330	1	0
ARFGAP2	84364	broad.mit.edu	37	11	47198363	47198363	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:47198363A>C	ENST00000524782.1	-	1	270	c.42T>G	c.(40-42)ttT>ttG	p.F14L	ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000319543.6_5'UTR|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.F14L|ARFGAP2_ENST00000419701.2_5'UTR	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	14	Arf-GAP.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding	p.F14L(1)		breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GAAGCCTCTTAAAAAGAGTCT	0.647000													17	34					0	0	0.004007	0	0
CACNA1E	777	broad.mit.edu	37	1	181745277	181745277	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:181745277A>T	ENST00000526775.1	+	37	5288	c.5123A>T	c.(5122-5124)gAg>gTg	p.E1708V	CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1727V|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E1334V|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E1727V|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1708V|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1659V|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1678V	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1727					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.E1727V(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GACAACTTTGAGTACCTGACT	0.567000													60	180					0	0	0.003610	0	0
LCE3B	353143	broad.mit.edu	37	1	152586301	152586301	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:152586301G>T	ENST00000335633.1	+	1	15	c.15G>T	c.(13-15)caG>caT	p.Q5H		NM_178433.1	NP_848520.1	Q5TA77	LCE3B_HUMAN	late cornified envelope 3B	5	Cys-rich.				keratinization			p.Q5H(1)		large_intestine(1)|lung(2)|prostate(1)	4	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		CCTGCCAGCAGAACCAGCAGC	0.557000													29	22					1.08312e-15	1.55688e-15	0.009535	1	0
ZNF667	63934	broad.mit.edu	37	19	56953189	56953189	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:56953189T>C	ENST00000504904.3	-	7	1894	c.1175A>G	c.(1174-1176)gAg>gGg	p.E392G	ZNF667_ENST00000342634.3_Missense_Mutation_p.E520G|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.E392G			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E392G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GCAGACCTTCTCACATTTATT	0.348000													6	51					0	0	0.001168	0	0
PEG3	5178	broad.mit.edu	37	19	57328349	57328349	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:57328349G>C	ENST00000326441.9	-	10	1824	c.1461C>G	c.(1459-1461)atC>atG	p.I487M	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.I363M|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.I487M|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.I361M	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	487					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I487M(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCACACTGTGGATAAAGGACT	0.463000													22	134					0	0	0.002299	0	0
C12orf71	728858	broad.mit.edu	37	12	27235055	27235055	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:27235055T>C	ENST00000429849.2	-	1	392	c.362A>G	c.(361-363)aAa>aGa	p.K121R		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	121								p.K121R(1)		endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						TGTTCTCTCTTTTGGTAACTT	0.408000													6	24					0	0	0.001984	0	0
TIA1	7072	broad.mit.edu	37	2	70451749	70451749	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:70451749C>A	ENST00000433529.2	-	7	621	c.411G>T	c.(409-411)gtG>gtT	p.V137V	TIA1_ENST00000282574.4_Silent_p.V137V|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000415783.2_Silent_p.V126V|TIA1_ENST00000445587.1_Silent_p.V126V|TIA1_ENST00000416149.2_Silent_p.V137V	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	137	RRM 2.				apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding	p.V137V(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						TGTCTTTTACCACTCGGGCAT	0.388000													9	49					1.12685e-05	1.29033e-05	0.004482	1	0
MYH13	8735	broad.mit.edu	37	17	10231408	10231408	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:10231408G>A	ENST00000418404.3	-	21	2629	c.2466C>T	c.(2464-2466)atC>atT	p.I822I	MYH13_ENST00000570743.1_Silent_p.I822I|RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Silent_p.I822I			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	822					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.I822I(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TAAAAGAGCGGATGTTGTACT	0.512000											OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	20					0	0	0.002445	0	0
HOXB9	3219	broad.mit.edu	37	17	46703290	46703290	+	Silent	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:46703290C>G	ENST00000311177.5	-	1	549	c.342G>C	c.(340-342)gcG>gcC	p.A114A	HOXB7_ENST00000567101.1_Intron|HOXB9_ENST00000550387.1_Intron	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	114					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A114A(1)		breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						CCTTCACCGCCGCCTGGCCCT	0.751000													7	9					0	0	0.003080	0	0
IPO9	55705	broad.mit.edu	37	1	201843470	201843470	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:201843470C>G	ENST00000361565.4	+	21	2872	c.2803C>G	c.(2803-2805)Cgc>Ggc	p.R935G		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	935				R -> P (in Ref. 4; BAB55181).	protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	p.R935G(1)		cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TAATGCCGCTCGCCAGGCCAC	0.507000													7	97					0	0	0.003080	0	0
MKRN3	7681	broad.mit.edu	37	15	23812450	23812450	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:23812450G>T	ENST00000314520.3	+	1	1997	c.1521G>T	c.(1519-1521)ctG>ctT	p.L507L	MKRN3_ENST00000568945.1_Intron|MKRN3_ENST00000564592.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	507						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.L507L(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		ATTTGATTCTGTAGCATCGTG	0.458000													33	81					5.8336e-16	8.49572e-16	0.003271	1	0
MAN2A1	4124	broad.mit.edu	37	5	109051926	109051926	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:109051926C>T	ENST00000261483.4	+	3	1548	c.496C>T	c.(496-498)Ctt>Ttt	p.L166F		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	166					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.L166F(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CACTGAACCCCTTCAAGTCTT	0.388000													33	49					0	0	0.002445	0	0
ZNF223	7766	broad.mit.edu	37	19	44564659	44564659	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:44564659G>T	ENST00000591793.1	+	5	480	c.397G>T	c.(397-399)Ggg>Tgg	p.G133W	ZNF223_ENST00000585552.1_Missense_Mutation_p.G23W|ZNF223_ENST00000588518.1_Intron|ZNF223_ENST00000434772.3_Missense_Mutation_p.G23W			Q9UK11	ZN223_HUMAN	zinc finger protein 223	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G23W(2)		endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				GGAGGAGCTGGGGCTGCTGGA	0.517000													84	123					2.35699e-46	3.96117e-46	0.003610	1	0
CSMD1	64478	broad.mit.edu	37	8	3046423	3046423	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:3046423C>T	ENST00000520002.1	-	36	6067	c.5512G>A	c.(5512-5514)Ggc>Agc	p.G1838S	CSMD1_ENST00000542608.1_Missense_Mutation_p.G1837S|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1838S|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1837S|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1838S|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1837S|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1838S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1838	CUB 11.					integral to membrane		p.G1837S(1)|p.G1566S(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)		ATTCCCGAGCCCTCCGTAACT	0.473000													7	9					0	0	0.001984	0	0
GOLIM4	27333	broad.mit.edu	37	3	167728113	167728113	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:167728113C>A	ENST00000470487.1	-	16	2724	c.2035G>T	c.(2035-2037)Gag>Tag	p.E679*	GOLIM4_ENST00000309027.4_Nonsense_Mutation_p.E651*	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	679	Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		p.E679*(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						tcttcttcctcctcttcttcc	0.468000													84	153					5.72486e-32	9.35449e-32	0.003610	1	0
LATS1	9113	broad.mit.edu	37	6	150001196	150001196	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:150001196C>G	ENST00000543571.1	-	5	2955	c.2408G>C	c.(2407-2409)aGt>aCt	p.S803T	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.S803T	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	803	Protein kinase.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	p.S803T(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TCGTGCCAGACTTTCTGGAAA	0.338000													14	112					0	0	0.001855	0	0
NCAPH	23397	broad.mit.edu	37	2	97007797	97007797	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:97007797C>G	ENST00000455200.1	+	3	544	c.249C>G	c.(247-249)gaC>gaG	p.D83E	NCAPH_ENST00000240423.4_Missense_Mutation_p.D94E|NCAPH_ENST00000427946.1_5'UTR			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	94					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		p.D94E(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GGAGTATTGACATTTCAGCTA	0.368000													4	63					0	0	0.009096	0	0
NLRP4	147945	broad.mit.edu	37	19	56379098	56379098	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:56379098C>A	ENST00000301295.6	+	6	2632	c.2210C>A	c.(2209-2211)cCc>cAc	p.P737H	NLRP4_ENST00000346986.5_Intron|NLRP4_ENST00000587891.1_Missense_Mutation_p.P662H	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	737							ATP binding	p.P737N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CACCTCTCACCCATTGATTGT	0.468000													24	62					1.12875e-08	1.40736e-08	0.006320	1	0
OR2L3	391192	broad.mit.edu	37	1	248224682	248224682	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:248224682G>T	ENST00000359959.3	+	1	699	c.699G>T	c.(697-699)agG>agT	p.R233S	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R233S(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CAGAAGGGAGGAAGAAAGCCT	0.478000													55	236					6.30371e-39	1.04353e-38	0.003610	1	0
SLC39A12	221074	broad.mit.edu	37	10	18270268	18270268	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:18270268G>T	ENST00000377369.2	+	6	1225	c.952G>T	c.(952-954)Gag>Tag	p.E318*	SLC39A12_ENST00000377371.3_Nonsense_Mutation_p.E318*|SLC39A12_ENST00000377374.4_Nonsense_Mutation_p.E318*|SLC39A12_ENST00000539911.1_Nonsense_Mutation_p.E184*	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	318					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.E318*(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GCAGCTGGTGGAGATATTTCT	0.453000													15	66					2.31682e-05	2.61234e-05	0.003163	1	0
ACAN	176	broad.mit.edu	37	15	89414627	89414627	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:89414627G>A	ENST00000439576.2	+	14	7335	c.6961G>A	c.(6961-6963)Gag>Aag	p.E2321K	ACAN_ENST00000352105.7_Missense_Mutation_p.E2283K|ACAN_ENST00000561243.1_Missense_Mutation_p.E2321K|ACAN_ENST00000559004.1_Missense_Mutation_p.E2283K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2321					cell adhesion		hyaluronic acid binding|sugar binding	p.E2207K(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)			GGAGGTATGTGAGGAGGGCTG	0.622000													8	31					0	0	0.003080	0	0
CSPP1	79848	broad.mit.edu	37	8	68018196	68018196	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:68018196C>G	ENST00000262210.5	+	8	1137	c.1106C>G	c.(1105-1107)gCa>gGa	p.A369G	CSPP1_ENST00000412460.1_Missense_Mutation_p.A75G	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	404						centrosome|microtubule|spindle		p.A369G(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AGTCCTTTTGCAGGGATGCTC	0.348000													11	33					0	0	0.001368	0	0
CYTIP	9595	broad.mit.edu	37	2	158300456	158300456	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:158300456G>C	ENST00000264192.3	-	1	198	c.77C>G	c.(76-78)tCt>tGt	p.S26C	CYTIP_ENST00000497432.1_Intron|CYTIP_ENST00000540637.1_Intron	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	26					regulation of cell adhesion	cell cortex|early endosome	protein binding	p.S26C(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TGTGGAGTAAGAGCTATACGC	0.507000													9	90					0	0	0.006214	0	0
PPP1R3D	5509	broad.mit.edu	37	20	58514485	58514485	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:58514485A>C	ENST00000370996.3	-	1	867	c.502T>G	c.(502-504)Ttt>Gtt	p.F168V	FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	168					glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity	p.F168V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			CGCTCGCCAAAGTCGGCGGCC	0.662000													5	24					0	0	0.000602	0	0
SOX11	6664	broad.mit.edu	37	2	5833567	5833567	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:5833567G>C	ENST00000322002.3	+	1	769	c.714G>C	c.(712-714)caG>caC	p.Q238H		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	238					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding	p.Q238H(1)		central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		TGCAGCTGCAGATCAAACAGG	0.677000													6	18					0	0	0.001168	0	0
CTNNA2	1496	broad.mit.edu	37	2	80101247	80101247	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:80101247G>T	ENST00000466387.1	+	10	1355	c.631G>T	c.(631-633)Ggg>Tgg	p.G211W	CTNNA2_ENST00000540488.1_Missense_Mutation_p.G211W|CTNNA2_ENST00000496558.1_Missense_Mutation_p.G211W|CTNNA2_ENST00000361291.4_Missense_Mutation_p.G245W|CTNNA2_ENST00000541047.1_Missense_Mutation_p.G211W|CTNNA2_ENST00000402739.4_Missense_Mutation_p.G211W			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	211					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.G211W(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGCCGCCCGAGGGGCTCTGAA	0.507000													13	46					5.50884e-06	6.36577e-06	0.001368	1	0
PFAS	5198	broad.mit.edu	37	17	8169551	8169551	+	Splice_Site	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:8169551G>T	ENST00000314666.6	+	22	2834		c.e22-1		PFAS_ENST00000545834.1_Splice_Site	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase						'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	p.?(1)		central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCTTCCTCCAGACCGCCTCCT	0.582000													18	24					8.28177e-16	1.19821e-15	0.007413	1	0
SCN9A	6335	broad.mit.edu	37	2	167055686	167055686	+	Silent	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:167055686G>C	ENST00000375387.4	-	27	5806	c.5466C>G	c.(5464-5466)gtC>gtG	p.V1822V	SCN9A_ENST00000409672.1_Silent_p.V1810V|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.V1822V|SCN9A_ENST00000409435.1_Silent_p.V1821V			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1821						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V1810V(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)	CAATGAGCTGGACTTTGTTGG	0.468000													29	149					0	0	0.008361	0	0
ACTN2	88	broad.mit.edu	37	1	236912547	236912547	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:236912547A>G	ENST00000366578.4	+	14	1805	c.1639A>G	c.(1639-1641)Agc>Ggc	p.S547G	ACTN2_ENST00000542672.1_Missense_Mutation_p.S547G|ACTN2_ENST00000546208.1_Missense_Mutation_p.S41G	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	547					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.S547G(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CATTGTCCACAGCATTGAGGA	0.443000													28	78					0	0	0.004656	0	0
ZP2	7783	broad.mit.edu	37	16	21215360	21215360	+	Silent	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr16:21215360G>C	ENST00000574002.1	-	10	1445	c.963C>G	c.(961-963)ctC>ctG	p.L321L	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Silent_p.L321L|ZP2_ENST00000574091.1_Silent_p.L321L			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	321					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	p.L321L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CTTTCGTTTTGAGCAGAGTTT	0.433000													3	50					0	0	0.004672	0	0
AK8	158067	broad.mit.edu	37	9	135690074	135690074	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:135690074C>A	ENST00000298545.3	-	10	1451	c.930G>T	c.(928-930)agG>agT	p.R310S	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	310	Adenylate kinase.					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	p.R310S(2)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						CAAACGTGGTCCTATCTGCCA	0.498000													28	39					2.23313e-29	3.62883e-29	0.002445	1	0
BEND4	389206	broad.mit.edu	37	4	42145827	42145827	+	Missense_Mutation	SNP	C	C	G	rs139053577	by1000genomes	TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:42145827C>G	ENST00000502486.1	-	3	1251	c.672G>C	c.(670-672)caG>caC	p.Q224H	BEND4_ENST00000504360.1_Missense_Mutation_p.Q220H	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	224								p.Q220H(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TGTCTGAGGTCTGACTGTGGA	0.438000													8	47					0	0	0.003080	0	0
SLC35B4	84912	broad.mit.edu	37	7	133986824	133986824	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:133986824G>T	ENST00000378509.4	-	5	682	c.383C>A	c.(382-384)tCt>tAt	p.S128Y		NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4	128						Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity	p.S128Y(1)		large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						TATCCCCACAGACACCAGGGC	0.368000													22	104					9.04412e-07	1.06034e-06	0.004656	1	0
ANKRD26	22852	broad.mit.edu	37	10	27306605	27306605	+	Silent	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:27306605A>G	ENST00000376087.4	-	30	4497	c.4332T>C	c.(4330-4332)tgT>tgC	p.C1444C	ANKRD26_ENST00000436985.2_Silent_p.C1460C|ANKRD26_ENST00000376070.3_Silent_p.C1001C	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1443						centrosome		p.C1444C(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GTAGTTTTTCACATTTCTTTT	0.348000													5	89					0	0	0.000602	0	0
TMEM196	256130	broad.mit.edu	37	7	19761724	19761724	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:19761724G>T	ENST00000405764.3	-	4	1189	c.493C>A	c.(493-495)Cag>Aag	p.Q165K	TMEM196_ENST00000422233.1_3'UTR|TMEM196_ENST00000433641.1_3'UTR|TMEM196_ENST00000405844.1_3'UTR|TMEM196_ENST00000493519.1_Missense_Mutation_p.Q97K	NM_152774.3	NP_689987.3	Q5HYL7	TM196_HUMAN	transmembrane protein 196	171						integral to membrane		p.Q97K(1)|p.Q165K(1)		breast(1)|large_intestine(1)|lung(4)	6						AATATCAGCTGTGGTCCTCCA	0.318000													13	128					1.02788e-11	1.37674e-11	0.004990	1	0
INTS1	26173	broad.mit.edu	37	7	1536898	1536898	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:1536898C>A	ENST00000389470.4	-	12	1861	c.1862G>T	c.(1861-1863)cGg>cTg	p.R621L	INTS1_ENST00000404767.3_Missense_Mutation_p.R493L			Q8N201	INT1_HUMAN	integrator complex subunit 1	493					snRNA processing	integral to membrane|integrator complex|nuclear membrane		p.R621L(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCGCGAGGCCCGCAGGTAGTC	0.652000													9	50					0.000274275	0.000300818	0.004482	1	0
AQP4	361	broad.mit.edu	37	18	24445623	24445623	+	Splice_Site	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr18:24445623C>T	ENST00000383168.4	-	1	159	c.32_splice	c.e1+1	p.G11_splice	AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	11					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	p.G11S(1)		kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					AGGACTTACCCCCACCGCCTT	0.517000													37	137					0	0	0.008740	0	0
C11orf42	160298	broad.mit.edu	37	11	6231320	6231320	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:6231320C>A	ENST00000316375.2	+	2	363	c.313C>A	c.(313-315)Cga>Aga	p.R105R		NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	105								p.R105R(1)|p.R105*(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCAAATGGCCGAGCAGAGAG	0.577000													23	66					1.85244e-09	2.37327e-09	0.003330	1	0
IQSEC1	9922	broad.mit.edu	37	3	12983333	12983333	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:12983333C>A	ENST00000273221.4	-	2	314	c.98G>T	c.(97-99)gGc>gTc	p.G33V	IQSEC1_ENST00000473088.1_5'UTR	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	33					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	p.G33V(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGGGATGTGCCAGTCTCACT	0.647000													10	8					1.58986e-06	1.85414e-06	0.008291	1	0
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs138265355	by1000genomes	TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532000													4	78					0	0	0.009096	0	0
LYST	1130	broad.mit.edu	37	1	235969542	235969542	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:235969542G>C	ENST00000389794.3	-	6	3068	c.2894C>G	c.(2893-2895)tCt>tGt	p.S965C	LYST_ENST00000536965.1_Missense_Mutation_p.S965C|LYST_ENST00000389793.2_Missense_Mutation_p.S965C			Q99698	LYST_HUMAN	lysosomal trafficking regulator	965					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.S965C(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ACGACACATAGACCAAATGTC	0.418000													67	106					0	0	0.003610	0	0
TLE4	7091	broad.mit.edu	37	9	82340023	82340023	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:82340023G>T	ENST00000376520.4	+	21	3210	c.2382G>T	c.(2380-2382)ggG>ggT	p.G794G	TLE4_ENST00000376537.4_Silent_p.G794G|TLE4_ENST00000265284.6_Silent_p.G737G|TLE4_ENST00000376534.4_Silent_p.G399G|TLE4_ENST00000376544.3_Silent_p.G693G|TLE4_ENST00000376552.2_Silent_p.G762G			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0								p.G762G(1)|p.G794G(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTGGCTCTGGGGATAAGAAGG	0.408000													14	52					0.00316338	0.00338551	0.003163	1	0
LRRC15	131578	broad.mit.edu	37	3	194081122	194081122	+	Silent	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:194081122A>G	ENST00000347624.3	-	2	736	c.651T>C	c.(649-651)ttT>ttC	p.F217F	LRRC15_ENST00000428839.1_Silent_p.F223F|LRRC15_ENST00000439944.2_Silent_p.F223F	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	217						integral to membrane		p.F217F(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CAAGCCCATCAAAAGTGCCCA	0.567000													119	95					0	0	0.003610	0	0
CLEC1B	51266	broad.mit.edu	37	12	10149814	10149814	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:10149814T>A	ENST00000428126.2	-	4	398	c.129A>T	c.(127-129)ttA>ttT	p.L43F	CLEC1B_ENST00000298527.6_Missense_Mutation_p.L76F|CLEC1B_ENST00000348658.4_Missense_Mutation_p.L43F			Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	76					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	p.L76F(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						AGCGCTTTGCTAATTGTTGCA	0.363000													6	38					0	0	0.001984	0	0
KIAA0100	9703	broad.mit.edu	37	17	26964910	26964910	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:26964910C>A	ENST00000528896.2	-	14	1789	c.1715G>T	c.(1714-1716)tGg>tTg	p.W572L	KIAA0100_ENST00000544884.1_Missense_Mutation_p.W429L|KIAA0100_ENST00000389003.3_Missense_Mutation_p.W429L	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	572						extracellular region		p.W572F(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GTCCACCTTCCACAGTAATGA	0.478000													10	63					7.03913e-09	8.81386e-09	0.001368	1	0
GRIK1	2897	broad.mit.edu	37	21	30961211	30961211	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr21:30961211G>T	ENST00000399914.1	-	10	1993	c.1472C>A	c.(1471-1473)gCc>gAc	p.A491D	GRIK1_ENST00000535441.1_Missense_Mutation_p.A508D|GRIK1_ENST00000399909.1_Missense_Mutation_p.A491D|GRIK1_ENST00000327783.4_Missense_Mutation_p.A506D|GRIK1_ENST00000309434.7_Missense_Mutation_p.A508D|GRIK1_ENST00000389125.3_Missense_Mutation_p.A491D|GRIK1_ENST00000389124.2_Missense_Mutation_p.A506D|GRIK1_ENST00000399907.1_Missense_Mutation_p.A506D|GRIK1_ENST00000399913.1_Missense_Mutation_p.A506D			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	506					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	p.A491D(1)|p.A506D(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GTCATTCTGGGCCCCATATTT	0.378000													43	94					1.97e-11	2.61483e-11	0.002522	1	0
MECOM	2122	broad.mit.edu	37	3	168830606	168830606	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:168830606C>A	ENST00000464456.1	-	8	3182	c.1982G>T	c.(1981-1983)aGg>aTg	p.R661M	MECOM_ENST00000472280.1_Missense_Mutation_p.R662M|MECOM_ENST00000392736.3_Missense_Mutation_p.R661M|MECOM_ENST00000433243.2_Missense_Mutation_p.R662M|MECOM_ENST00000264674.3_Missense_Mutation_p.R726M|MECOM_ENST00000494292.1_Missense_Mutation_p.R849M|MECOM_ENST00000460814.1_Missense_Mutation_p.R661M|MECOM_ENST00000468789.1_Missense_Mutation_p.R661M	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity	p.R661M(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGGAGAAGGCCTCAAGTATTT	0.368000													49	129					4.44712e-29	7.2001e-29	0.003610	1	0
RXRG	6258	broad.mit.edu	37	1	165380321	165380321	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:165380321G>T	ENST00000359842.5	-	5	950	c.648C>A	c.(646-648)agC>agA	p.S216R	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	216	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.S216_R217>R*(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	CTCGCTCTCGGCTCCTCTGTC	0.493000													34	41					3.03874e-20	4.63946e-20	0.003271	1	0
HIF3A	64344	broad.mit.edu	37	19	46808501	46808501	+	Splice_Site	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:46808501G>A	ENST00000339613.2	+	3	304		c.e3-1		HIF3A_ENST00000420102.2_Intron|HIF3A_ENST00000377670.4_Splice_Site|HIF3A_ENST00000525854.1_Splice_Site|HIF3A_ENST00000300862.3_Splice_Site|HIF3A_ENST00000244303.6_Intron|HIF3A_ENST00000600383.1_Intron|HIF3A_ENST00000472815.1_Intron			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCGGGCACCAGGGGAGTGGAA	0.612000													34	48					0	0	0.003271	0	0
RBM24	221662	broad.mit.edu	37	6	17283081	17283081	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:17283081C>A	ENST00000379052.5	+	2	450	c.214C>A	c.(214-216)Ccc>Acc	p.P72T	RBM24_ENST00000425446.2_Missense_Mutation_p.P14T|RBM24_ENST00000318204.5_Missense_Mutation_p.P27T	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	72	RRM.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding	p.P72T(1)|p.P27T(1)		endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			CTGCAAGGATCCCAATCCCAT	0.493000													24	54					1.1804e-14	1.66423e-14	0.003954	1	0
GZMK	3003	broad.mit.edu	37	5	54326301	54326301	+	Silent	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:54326301A>T	ENST00000231009.2	+	3	322	c.252A>T	c.(250-252)gcA>gcT	p.A84A	CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	84	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.A84A(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TTTTAGGCGCACACTCTCTCT	0.413000													24	55					0	0	0.002780	0	0
PAN2	9924	broad.mit.edu	37	12	56720556	56720556	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:56720556G>A	ENST00000425394.2	-	7	1483	c.1107C>T	c.(1105-1107)tcC>tcT	p.S369S	PAN2_ENST00000440411.3_Silent_p.S369S|PAN2_ENST00000548043.1_Silent_p.S369S|PAN2_ENST00000257931.5_Silent_p.S369S	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	369					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	p.S369S(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CAGTCTCACGGGAGTAGGGGT	0.587000													36	53					0	0	0.004289	0	0
TBX15	6913	broad.mit.edu	37	1	119474366	119474366	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:119474366C>A	ENST00000369429.3	-	2	304	c.295G>T	c.(295-297)Gct>Tct	p.A99S	TBX15_ENST00000207157.3_5'UTR			Q96SF7	TBX15_HUMAN	T-box 15	99						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GGGCCTGCAGCACCAGAGGCC	0.532000													6	40					5.9392e-07	7.00034e-07	0.001168	1	0
TNFRSF9	3604	broad.mit.edu	37	1	7993221	7993221	+	Splice_Site	SNP	C	C	G	rs139075597		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:7993221C>G	ENST00000377507.3	-	7	846		c.e7+1			NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9						induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.?(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GTTAATCTTACGTTGTTTGAA	0.368000													3	34					0	0	0.004672	0	0
NTN4	59277	broad.mit.edu	37	12	96131706	96131706	+	Missense_Mutation	SNP	C	C	G	rs140109505		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:96131706C>G	ENST00000343702.4	-	3	1250	c.802G>C	c.(802-804)Gct>Cct	p.A268P	NTN4_ENST00000552603.1_5'UTR|NTN4_ENST00000553059.1_Missense_Mutation_p.A268P|NTN4_ENST00000538383.1_Missense_Mutation_p.A231P|NTN4_ENST00000344911.4_Missense_Mutation_p.A231P	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	268	Laminin EGF-like 1.				axon guidance	basement membrane|plasma membrane		p.A268P(1)		NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CATTGATCAGCGTGGCCATTG	0.458000													21	32					0	0	0.001882	0	0
SCAF11	9169	broad.mit.edu	37	12	46355641	46355641	+	Splice_Site	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:46355641C>T	ENST00000369367.3	-	3	295		c.e3-1		SCAF11_ENST00000395454.2_Splice_Site|SCAF11_ENST00000395453.2_Splice_Site|SCAF11_ENST00000419565.2_Splice_Site	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11						spliceosome assembly	nucleus	protein binding|zinc ion binding	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TTTTCTTCACCTGTTAAAGTA	0.383000													26	33					0	0	0.006320	0	0
SEMA5A	9037	broad.mit.edu	37	5	9227044	9227044	+	Silent	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:9227044C>G	ENST00000382496.5	-	7	1034	c.369G>C	c.(367-369)gtG>gtC	p.V123V		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	123	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.V123V(2)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GGTCGCCACCCACCAGAAGCA	0.393000													5	120					0	0	0.001168	0	0
FREM2	341640	broad.mit.edu	37	13	39438599	39438599	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr13:39438599G>C	ENST00000280481.7	+	16	8055	c.7839G>C	c.(7837-7839)caG>caC	p.Q2613H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2613					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.Q2613H(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATCCTTACCAGTACAGCTTGT	0.443000													45	52					0	0	0.003610	0	0
PRLR	5618	broad.mit.edu	37	5	35065590	35065590	+	Silent	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:35065590C>G	ENST00000382002.5	-	10	1896	c.1470G>C	c.(1468-1470)acG>acC	p.T490T	PRLR_ENST00000511486.1_Silent_p.T389T|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000342362.5_Silent_p.T389T|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	490					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	p.T490T(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GCAGCCAGGGCGTATCCTGGT	0.483000													82	173					0	0	0.003610	0	0
MUC2	4583	broad.mit.edu	37	11	1075905	1075905	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:1075905G>C	ENST00000441003.2	+	2	358	c.331G>C	c.(331-333)Gtg>Ctg	p.V111L	MUC2_ENST00000359061.5_Missense_Mutation_p.V111L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	111	VWFD 1.					inner mucus layer|outer mucus layer	protein binding	p.V111L(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCACCTGGCTGTGCTTAACGG	0.627000													2	6					0	0	0.004672	0	0
OR4N2	390429	broad.mit.edu	37	14	20296000	20296000	+	Missense_Mutation	SNP	C	C	A	rs2873667		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:20296000C>A	ENST00000568211.1	+	1	393	c.393C>A	c.(391-393)caC>caA	p.H131Q	OR4N2_ENST00000315947.1_Missense_Mutation_p.H131Q			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H131Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCCTCTGCACTATCCTACTG	0.522000													86	336					5.52034e-35	9.08749e-35	0.003610	1	0
ZBTB11	27107	broad.mit.edu	37	3	101370066	101370066	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:101370066C>A	ENST00000312938.4	-	11	3686	c.3106G>T	c.(3106-3108)Gca>Tca	p.A1036S		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	1036					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A1036S(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ATAGCTTCTGCAACTTCAGAT	0.363000													30	54					1.06801e-11	1.42832e-11	0.009535	1	0
ANO5	203859	broad.mit.edu	37	11	22272548	22272548	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:22272548G>C	ENST00000324559.8	+	12	1488	c.1171G>C	c.(1171-1173)Gga>Cga	p.G391R		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	391						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	p.G391R(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AATATTCATGGGAATTTGGGG	0.303000													10	31					0	0	0.001368	0	0
RALYL	138046	broad.mit.edu	37	8	85799963	85799963	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:85799963G>T	ENST00000521268.1	+	8	1915	c.810G>T	c.(808-810)atG>atT	p.M270I	RALYL_ENST00000522455.1_Missense_Mutation_p.M270I|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000521695.1_Missense_Mutation_p.M270I|RALYL_ENST00000517638.1_Missense_Mutation_p.M283I|RALYL_ENST00000518566.1_Missense_Mutation_p.M259I|RALYL_ENST00000523850.1_Missense_Mutation_p.M197I	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	270							identical protein binding|nucleotide binding|RNA binding	p.M270I(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GAGAAGAGATGACAGATGGGA	0.488000													13	128					3.27435e-08	3.99797e-08	0.002450	1	0
GPR133	283383	broad.mit.edu	37	12	131466608	131466608	+	Splice_Site	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:131466608G>C	ENST00000261654.5	+	5	1049	c.490_splice	c.e5+1	p.G164_splice	GPR133_ENST00000535015.1_Splice_Site_p.G196_splice	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	164					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G164R(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CAGCCCCCCAGGTGAGTGACA	0.612000													6	43					0	0	0.001984	0	0
CDH6	1004	broad.mit.edu	37	5	31294121	31294121	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:31294121G>T	ENST00000265071.2	+	3	546	c.281G>T	c.(280-282)gGa>gTa	p.G94V	CDH6_ENST00000514738.1_Missense_Mutation_p.G39V	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	94	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.G94V(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATCCTTTCAGGAGATGGAGCA	0.393000													43	153					9.84934e-19	1.47824e-18	0.002522	1	0
SYF2	25949	broad.mit.edu	37	1	25555610	25555610	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:25555610T>G	ENST00000236273.4	-	3	162	c.137A>C	c.(136-138)gAa>gCa	p.E46A	SYF2_ENST00000354361.3_Intron	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN	SYF2 pre-mRNA-splicing factor	46						catalytic step 2 spliceosome		p.E46A(1)		kidney(1)|large_intestine(1)|lung(4)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		TTTACGAGCTTCATTCTAAAA	0.383000													29	68					0	0	0.005443	0	0
ABCA7	10347	broad.mit.edu	37	19	1049420	1049420	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:1049420G>T	ENST00000263094.6	+	18	2767	c.2536G>T	c.(2536-2538)Ggc>Tgc	p.G846C	ABCA7_ENST00000435683.2_Missense_Mutation_p.G708C|ABCA7_ENST00000433129.1_Missense_Mutation_p.G846C	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	846	ABC transporter 1.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	p.G846C(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAACGGGGCCGGCAAGACCAC	0.716000													11	24					3.07112e-06	3.5675e-06	0.000978	1	0
MAPK4	5596	broad.mit.edu	37	18	48252472	48252472	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr18:48252472G>T	ENST00000400384.2	+	5	2030	c.994G>T	c.(994-996)Gat>Tat	p.D332Y	MAPK4_ENST00000540640.1_Missense_Mutation_p.D121Y|MAPK4_ENST00000592595.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	332					cell cycle		ATP binding|MAP kinase activity	p.D332Y(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CCGCATTGAGGATGAGATCGA	0.607000													6	55					0.00116845	0.00126118	0.001168	1	0
ZNF831	128611	broad.mit.edu	37	20	57768489	57768489	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:57768489C>A	ENST00000371030.2	+	1	2415	c.2415C>A	c.(2413-2415)gtC>gtA	p.V805V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	805						intracellular	nucleic acid binding|zinc ion binding	p.V805V(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)					CCCAGACTGTCCTGAGATGGC	0.627000													27	16					3.73808e-20	5.68755e-20	0.005443	1	0
NLRP11	204801	broad.mit.edu	37	19	56319360	56319360	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:56319360T>C	ENST00000443188.1	-	6	2572	c.1862A>G	c.(1861-1863)tAc>tGc	p.Y621C	NLRP11_ENST00000360133.3_Intron|NLRP11_ENST00000589093.1_Missense_Mutation_p.Y621C|NLRP11_ENST00000589824.2_Intron|NLRP11_ENST00000592953.1_Missense_Mutation_p.Y522C	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	621							ATP binding	p.Y621C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CTCTCTCCAGTAGACAAGGCT	0.363000													44	31					0	0	0.003214	0	0
FLRT2	23768	broad.mit.edu	37	14	86089577	86089577	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:86089577C>A	ENST00000330753.4	+	2	2486	c.1719C>A	c.(1717-1719)acC>acA	p.T573T	FLRT2_ENST00000554746.1_Silent_p.T573T	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	573					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.T573T(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GGCGCTACACCTCCCAGAAGT	0.547000													44	72					2.37825e-27	3.79489e-27	0.002522	1	0
DST	667	broad.mit.edu	37	6	56480481	56480481	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:56480481T>A	ENST00000370765.6	-	24	7891	c.7784A>T	c.(7783-7785)gAt>gTt	p.D2595V	DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1891	Poly-Asp.				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	p.D2595V(2)		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)			TGACTTTTGATCTTTGAGTTT	0.378000													25	70					0	0	0.003954	0	0
LPIN2	9663	broad.mit.edu	37	18	2923837	2923837	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr18:2923837G>A	ENST00000261596.4	-	16	2348	c.2110C>T	c.(2110-2112)Ctc>Ttc	p.L704F		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	704	C-LIP.				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	p.L704F(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		AGCTGTGGGAGAATCTGTCCC	0.483000													53	93					0	0	0.003610	0	0
SYMPK	8189	broad.mit.edu	37	19	46345558	46345558	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:46345558C>A	ENST00000245934.7	-	9	1281	c.1037G>T	c.(1036-1038)cGc>cTc	p.R346L		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	346					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	p.R346L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGGCCGCTTGCGGGTGTCCTT	0.627000													35	42					4.65686e-17	6.88406e-17	0.003755	1	0
SMCHD1	23347	broad.mit.edu	37	18	2750424	2750424	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr18:2750424C>T	ENST00000320876.6	+	32	4422	c.4084C>T	c.(4084-4086)Ctt>Ttt	p.L1362F	SMCHD1_ENST00000261598.8_Missense_Mutation_p.L1362F|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1362					chromosome organization		ATP binding	p.L1362F(2)|p.L1362I(2)|p.L810I(1)|p.L810F(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GTTAATGATTCTTCCAGACCC	0.383000													27	25					0	0	0.004656	0	0
ABCB10	23456	broad.mit.edu	37	1	229661864	229661864	+	Splice_Site	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:229661864C>A	ENST00000344517.4	-	10	1768		c.e10-1			NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10							integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	p.?(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				AAATGGGTTCCTACAAATTGG	0.363000													18	78					8.00594e-06	9.21517e-06	0.007413	1	0
HOXD12	3238	broad.mit.edu	37	2	176964621	176964621	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:176964621C>G	ENST00000406506.2	+	1	164	c.92C>G	c.(91-93)cCg>cGg	p.P31R	HOXD12_ENST00000404162.2_Missense_Mutation_p.P31R			P35452	HXD12_HUMAN	homeobox D12	31						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P31R(1)		central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		AACCTGAGGCCGAATGGCGGC	0.667000													13	61					0	0	0.002450	0	0
NLRP13	126204	broad.mit.edu	37	19	56419176	56419176	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:56419176C>T	ENST00000588751.1	-	7	2453	c.2429G>A	c.(2428-2430)tGc>tAc	p.C810Y	NLRP13_ENST00000342929.3_Missense_Mutation_p.C810Y			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	810							ATP binding	p.C810Y(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CTTGAGGTTGCAAGCTGAGTG	0.517000													56	57					0	0	0.003610	0	0
PROSER1	80209	broad.mit.edu	37	13	39586281	39586281	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr13:39586281G>T	ENST00000352251.3	-	12	3484	c.2651C>A	c.(2650-2652)tCa>tAa	p.S884*	PROSER1_ENST00000484434.2_5'UTR|PROSER1_ENST00000350125.3_Nonsense_Mutation_p.S862*	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	884								p.S884*(1)									GGATGATTGTGAAGGATTCTG	0.453000													61	91					6.20203e-27	9.86079e-27	0.003610	1	0
GPR176	11245	broad.mit.edu	37	15	40093898	40093898	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:40093898C>A	ENST00000299092.3	-	4	1178	c.980G>T	c.(979-981)cGc>cTc	p.R327L	GPR176_ENST00000543580.1_Missense_Mutation_p.R283L|GPR176_ENST00000561100.1_Missense_Mutation_p.R328L	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	328					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	p.R328L(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CAAGCACTTGCGGACAGATTT	0.552000											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	29					9.05144e-12	1.21603e-11	0.001855	1	0
NEB	4703	broad.mit.edu	37	2	152466583	152466583	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:152466583G>T	ENST00000397345.3	-	81	12272	c.12070C>A	c.(12070-12072)Cag>Aag	p.Q4024K	NEB_ENST00000604864.1_Missense_Mutation_p.Q4024K|NEB_ENST00000603639.1_Missense_Mutation_p.Q4024K|NEB_ENST00000427231.2_Missense_Mutation_p.Q4024K|NEB_ENST00000172853.10_Missense_Mutation_p.Q3781K|NEB_ENST00000409198.1_Missense_Mutation_p.Q3781K	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	4023					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.Q4024K(1)|p.Q3781K(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCAATGCTCTGGGCTCCAATG	0.403000													23	19					2.39556e-15	3.42113e-15	0.002780	1	0
OGDHL	55753	broad.mit.edu	37	10	50959877	50959877	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:50959877T>C	ENST00000374103.4	-	6	830	c.745A>G	c.(745-747)Atg>Gtg	p.M249V	OGDHL_ENST00000432695.1_Missense_Mutation_p.M40V|OGDHL_ENST00000419399.1_Missense_Mutation_p.M192V	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	249					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.M249V(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCCAACCTCATGGAGCGCACT	0.627000													19	71					0	0	0.007413	0	0
NAP1L3	4675	broad.mit.edu	37	X	92926929	92926929	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:92926929C>T	ENST00000373079.3	-	1	1638	c.1375G>A	c.(1375-1377)Gat>Aat	p.D459N	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	459					nucleosome assembly	chromatin assembly complex		p.D459N(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						AGGATAGCATCTTCTCGTGGT	0.393000													8	14					0	0	0.003080	0	0
ZNF658	26149	broad.mit.edu	37	9	40774115	40774115	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:40774115C>G	ENST00000602553.1	-	5	1454	c.1160G>C	c.(1159-1161)gGg>gCg	p.G387A	ZNF658_ENST00000441795.1_Missense_Mutation_p.G385A|ZNF658_ENST00000377626.3_Missense_Mutation_p.G387A			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G387A(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCTGCATTTCCCATGTTCATC	0.403000													105	169					0	0	0.003610	0	0
MAN2B2	23324	broad.mit.edu	37	4	6578375	6578375	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:6578375G>T	ENST00000285599.3	+	2	245	c.209G>T	c.(208-210)cGc>cTc	p.R70L	MAN2B2_ENST00000504248.1_Missense_Mutation_p.R70L	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	70					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	p.R70L(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GGCCAGCAGCGCCGGTTCATC	0.627000													13	70					3.27435e-08	3.99797e-08	0.002450	1	0
NIPAL1	152519	broad.mit.edu	37	4	48037822	48037822	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:48037822C>A	ENST00000295461.5	+	6	932	c.866C>A	c.(865-867)aCa>aAa	p.T289K		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	289						integral to membrane		p.T289K(1)		endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TCAGTAACTACACAGATTAAC	0.423000													18	53					1.99824e-07	2.39355e-07	0.004990	1	0
KIAA1551	55196	broad.mit.edu	37	12	32138614	32138614	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:32138614G>C	ENST00000312561.4	+	4	5139	c.4725G>C	c.(4723-4725)aaG>aaC	p.K1575N	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551									p.K1575N(1)									CCCAAGTAAAGGATCAAAAGA	0.358000													16	97					0	0	0.003163	0	0
SVEP1	79987	broad.mit.edu	37	9	113265405	113265405	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:113265405A>T	ENST00000401783.2	-	6	1732	c.1396T>A	c.(1396-1398)Tgt>Agt	p.C466S	SVEP1_ENST00000302728.8_Missense_Mutation_p.C466S|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374461.1_Missense_Mutation_p.C443S|SVEP1_ENST00000374469.1_Missense_Mutation_p.C443S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	466	Sushi 2.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.C466S(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						CCTTCATCACAGGCAACCAAA	0.463000													43	60					0	0	0.008740	0	0
OR4D11	219986	broad.mit.edu	37	11	59271729	59271729	+	Silent	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:59271729T>C	ENST00000313253.1	+	1	681	c.681T>C	c.(679-681)tcT>tcC	p.S227S		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S227S(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CGCTGAGGTCTCAGGCAGGAG	0.527000													53	184					0	0	0.003610	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725572	32725572	+	Silent	SNP	G	G	A	rs116284473	byFrequency	TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:32725572G>A	ENST00000435145.2	-	4	796	c.735C>T	c.(733-735)atC>atT	p.I245I	HLA-DQB2_ENST00000437316.2_Silent_p.I245I|HLA-DQB2_ENST00000411527.1_Intron			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						TGTGACGGATGATAAGGCCCA	0.557000													4	10					0	0	0.009096	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133672506	133672506	+	Splice_Site	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:133672506C>A	ENST00000310926.4	-	5	998		c.e5+1		SLCO2A1_ENST00000493729.1_Splice_Site	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1						sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	p.?(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						CACATACTCACCTGTGTTGAC	0.527000													32	34					1.08312e-15	1.55688e-15	0.009535	1	0
PTPN14	5784	broad.mit.edu	37	1	214557623	214557623	+	Silent	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:214557623T>A	ENST00000366956.5	-	13	1769	c.1575A>T	c.(1573-1575)ccA>ccT	p.P525P	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	525					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.P525P(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CCGGCTTGCTTGGTACCACAT	0.582000													54	185					0	0	0.003610	0	0
MIR543	100126335	broad.mit.edu	37	14	101498348	101498348	+	RNA	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:101498348T>A	ENST00000390751.1	+	0	25					NR_030619.1																						TTGCCCGTGTTTTTTTCGCTT	0.498000													7	36					0	0	0.001984	0	0
LRRC32	2615	broad.mit.edu	37	11	76371892	76371892	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:76371892C>A	ENST00000407242.2	-	3	987	c.745G>T	c.(745-747)Gac>Tac	p.D249Y	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Missense_Mutation_p.D249Y|LRRC32_ENST00000260061.5_Missense_Mutation_p.D249Y	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	249						integral to plasma membrane		p.D249Y(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TCCCGCAGGTCAAGCCAGGTG	0.622000													15	57					3.27435e-08	3.99797e-08	0.002450	1	0
S1PR1	1901	broad.mit.edu	37	1	101704852	101704852	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:101704852G>T	ENST00000305352.6	+	2	687	c.312G>T	c.(310-312)ttG>ttT	p.L104F	S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	104					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	p.L104F(2)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						ACCTGCTCTTGTCTGGGGCCA	0.547000											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	61					5.45024e-15	7.72117e-15	0.003330	1	0
RNMT	8731	broad.mit.edu	37	18	13734586	13734586	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr18:13734586A>T	ENST00000383314.2	+	4	781	c.541A>T	c.(541-543)Agt>Tgt	p.S181C	RNMT_ENST00000592764.1_Missense_Mutation_p.S181C|RNMT_ENST00000262173.3_Missense_Mutation_p.S181C|RNMT_ENST00000589866.1_Missense_Mutation_p.S181C|RNMT_ENST00000535051.1_5'UTR|RNMT_ENST00000543302.2_Missense_Mutation_p.S181C			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	181					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding	p.S181C(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						TTGGATGAAAAGTGTTCTCAT	0.353000													20	96					0	0	0.008871	0	0
RFX5	5993	broad.mit.edu	37	1	151314767	151314767	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:151314767C>T	ENST00000290524.4	-	11	1924	c.1746G>A	c.(1744-1746)aaG>aaA	p.K582K	RFX5_ENST00000452671.2_Silent_p.K582K|RFX5_ENST00000368870.2_Silent_p.K582K|RFX5_ENST00000452513.2_Silent_p.K542K	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	582						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.K582K(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTACCTCTCCCTTTGCCAAAG	0.463000													31	177					0	0	0.002096	0	0
ZNF648	127665	broad.mit.edu	37	1	182025654	182025654	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:182025654G>T	ENST00000339948.3	-	2	1699	c.1492C>A	c.(1492-1494)Cac>Aac	p.H498N		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H498N(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						TCCCCGGAGTGGATCTGTTGG	0.637000													3	20					6.4e-05	7.12701e-05	0.004672	1	0
MSC	9242	broad.mit.edu	37	8	72756411	72756411	+	Translation_Start_Site	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:72756411C>T	ENST00000325509.4	-	1	292	c.3G>A	c.(1-3)atG>atA	p.M1I	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000524152.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	1					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.M1I(1)		endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			AGCCCGTGGACATCCCGTTGT	0.706000													6	28					0	0	0.004482	0	0
CELF4	56853	broad.mit.edu	37	18	34854794	34854794	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr18:34854794C>G	ENST00000420428.2	-	5	1026	c.631G>C	c.(631-633)Gcg>Ccg	p.A211P	CELF4_ENST00000591282.1_Missense_Mutation_p.A211P|CELF4_ENST00000361795.5_Missense_Mutation_p.A210P|CELF4_ENST00000591287.1_Missense_Mutation_p.A210P|CELF4_ENST00000334919.5_Missense_Mutation_p.A201P|CELF4_ENST00000412753.1_Missense_Mutation_p.A211P|CELF4_ENST00000603232.1_Missense_Mutation_p.A211P|CELF4_ENST00000588597.1_Missense_Mutation_p.A200P|RP11-797E24.3_ENST00000588766.1_RNA|RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000601019.1_Missense_Mutation_p.A210P	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	211	RRM 2.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	p.A211P(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CCGTGTAGCGCGTTGATGGCG	0.741000													3	6					0	0	0.009096	0	0
TRIP12	9320	broad.mit.edu	37	2	230667127	230667127	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:230667127G>A	ENST00000283943.5	-	20	3000	c.2822C>T	c.(2821-2823)aCa>aTa	p.T941I	TRIP12_ENST00000389044.4_Missense_Mutation_p.T989I|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Missense_Mutation_p.T671I	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	941					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	p.T941I(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)		TGGTGGACTTGTCAACAAAGA	0.453000													37	56					0	0	0.005524	0	0
SLC9A2	6549	broad.mit.edu	37	2	103299840	103299840	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:103299840C>T	ENST00000233969.2	+	4	1267	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	375						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.F375F(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						CCTTGATCTTCATCTTCATGG	0.493000													9	98					0	0	0.008291	0	0
GRIK3	2899	broad.mit.edu	37	1	37356572	37356572	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:37356572A>T	ENST00000373091.3	-	2	257	c.241T>A	c.(241-243)Tat>Aat	p.Y81N	GRIK3_ENST00000373093.4_Missense_Mutation_p.Y81N	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	81					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	p.Y81N(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TGTATGTCATAGGTCAAGGTT	0.542000													36	178					0	0	0.003755	0	0
TIGD7	91151	broad.mit.edu	37	16	3349677	3349677	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr16:3349677C>T	ENST00000396862.1	-	2	2766	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	TIGD7_ENST00000268674.2_Missense_Mutation_p.R313Q	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	313	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.R313Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						ACATTTTATTCGACCATCCTC	0.443000													9	66					0	0	0.004482	0	0
ITIH5	80760	broad.mit.edu	37	10	7683889	7683889	+	Splice_Site	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:7683889C>T	ENST00000256861.6	-	3	378		c.e3+1		ITIH5_ENST00000397146.2_Splice_Site|ITIH5_ENST00000397145.2_Splice_Site|ITIH5_ENST00000446830.2_Splice_Site	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5						hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.?(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GTGTCACCTACATAGTGAAGT	0.488000													10	116					0	0	0.001368	0	0
INPPL1	3636	broad.mit.edu	37	11	71948810	71948810	+	Silent	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:71948810G>C	ENST00000298229.2	+	26	3726	c.3522G>C	c.(3520-3522)cgG>cgC	p.R1174R	INPPL1_ENST00000541756.1_Silent_p.R932R|INPPL1_ENST00000538751.1_Silent_p.R932R	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1174					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	p.R1174R(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCCGCATCCGGGAGAGCATCC	0.672000													3	13					0	0	0.004672	0	0
AK8	158067	broad.mit.edu	37	9	135704074	135704074	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:135704074C>A	ENST00000298545.3	-	6	963	c.442G>T	c.(442-444)Gct>Tct	p.A148S	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	148						cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	p.Q147_A148>HS(2)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						ATCCTCAGAGCCTGCTCACGC	0.547000													6	8					8.12818e-05	8.99288e-05	0.001984	1	0
DNMBP	23268	broad.mit.edu	37	10	101656083	101656083	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:101656083T>C	ENST00000342239.3	-	10	3155	c.3064A>G	c.(3064-3066)Atc>Gtc	p.I1022V	DNMBP_ENST00000324109.4_Missense_Mutation_p.I998V|DNMBP_ENST00000543621.1_Missense_Mutation_p.I244V|DNMBP_ENST00000540316.1_Intron			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	998	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.I998V(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)		GATTTCTTGATGATGGAGTGG	0.468000													7	40					0	0	0.003080	0	0
TPTE	7179	broad.mit.edu	37	21	10910351	10910351	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr21:10910351C>G	ENST00000298232.7	-	21	1718	c.1351G>C	c.(1351-1353)Ggt>Cgt	p.G451R	TPTE_ENST00000361285.4_Missense_Mutation_p.G469R|TPTE_ENST00000342420.5_Missense_Mutation_p.G431R|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	469	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.G469C(1)|p.G469R(1)|p.G451R(1)|p.G451C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGAGGTAGACCGTCGAATACA	0.338000													13	101					0	0	0.002450	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48205578	48205578	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:48205578G>A	ENST00000396720.3	+	15	4783	c.4589G>A	c.(4588-4590)gGc>gAc	p.G1530D	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1530							protein binding	p.G1530D(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GCCTCGGCCGGCACCCCCGCA	0.726000													8	7					0	0	0.003080	0	0
PCDH15	65217	broad.mit.edu	37	10	55582281	55582281	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:55582281G>T	ENST00000361849.3	-	34	5605	c.5211C>A	c.(5209-5211)gcC>gcA	p.A1737A	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Silent_p.A1695A|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000320301.6_Silent_p.A1735A|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395433.1_Silent_p.A1712A|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Silent_p.A1732A|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_Silent_p.A1666A|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1735					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.A1735A(2)|p.A1742A(1)		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)				TTGGTGGATGGGCAAAATTTT	0.463000										HNSCC(58;0.16)			3	17					0.004672	0.00497596	0.004672	1	0
SLC45A3	85414	broad.mit.edu	37	1	205628458	205628458	+	Silent	SNP	G	G	A	rs141291475	byFrequency	TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:205628458G>A	ENST00000367145.3	-	5	1861	c.1566C>T	c.(1564-1566)gcC>gcT	p.A522A	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	522					transmembrane transport	integral to membrane		p.A522A(1)	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			ACACCATATAGGCAGTGACAG	0.547000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	68					0	0	0.000978	0	0
NTRK2	4915	broad.mit.edu	37	9	87285692	87285692	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:87285692C>A	ENST00000304053.6	+	2	512	c.29C>A	c.(28-30)cCc>cAc	p.P10H	NTRK2_ENST00000323115.4_Missense_Mutation_p.P10H|NTRK2_ENST00000376208.1_Missense_Mutation_p.P10H|NTRK2_ENST00000277120.3_Missense_Mutation_p.P10H|NTRK2_ENST00000359847.3_Missense_Mutation_p.P10H|NTRK2_ENST00000395882.1_Missense_Mutation_p.P10H|NTRK2_ENST00000376213.1_Missense_Mutation_p.P10H|NTRK2_ENST00000376214.1_Missense_Mutation_p.P10H	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	10					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	p.P10H(3)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TGGCATGGACCCGCCATGGCG	0.682000										TSP Lung(25;0.17)			50	59					3.19069e-20	4.86305e-20	0.003610	1	0
MRGPRX4	117196	broad.mit.edu	37	11	18194989	18194989	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:18194989C>A	ENST00000314254.3	+	1	606	c.186C>A	c.(184-186)tcC>tcA	p.S62S	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	62						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S62S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						ACGCTGTCTCCATCTACATCC	0.547000													24	91					8.24728e-16	1.19714e-15	0.004656	1	0
OR4D9	390199	broad.mit.edu	37	11	59283102	59283102	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:59283102C>A	ENST00000329328.3	+	1	717	c.717C>A	c.(715-717)acC>acA	p.T239T		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T239T(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CCATCTCCACCTGCACCTCCC	0.537000													108	160					2.87887e-39	4.77471e-39	0.003610	1	0
NIPAL3	57185	broad.mit.edu	37	1	24786969	24786969	+	Splice_Site	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:24786969A>G	ENST00000003912.3	+	11	1331		c.e11-1		NIPAL3_ENST00000339255.2_Splice_Site|NIPAL3_ENST00000374399.4_Splice_Site			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3							integral to membrane		p.?(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						TTGCTGCTGCAGGTGCAATAT	0.473000													8	50					0	0	0.004482	0	0
OR2B11	127623	broad.mit.edu	37	1	247614514	247614514	+	Silent	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:247614514T>A	ENST00000318749.6	-	1	794	c.771A>T	c.(769-771)ctA>ctT	p.L257L		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L257L(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AAATCGCAGGTAGGTAGAAGA	0.517000													29	148					0	0	0.006320	0	0
FBXO31	79791	broad.mit.edu	37	16	87377299	87377299	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr16:87377299A>G	ENST00000311635.7	-	4	574	c.562T>C	c.(562-564)Ttc>Ctc	p.F188L		NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	188					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	p.F16L(1)|p.F188L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGAGGCTTGAATCTCATAGGG	0.587000													3	24					0	0	0.004672	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269316	150269316	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:150269316G>A	ENST00000255945.2	+	3	333	c.158G>A	c.(157-159)cGg>cAg	p.R53Q	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.R67Q	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	53							GTP binding	p.R53Q(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATCCTTGGCCGGAAAGTGTTT	0.473000													3	50					0	0	0.004672	0	0
CCDC89	220388	broad.mit.edu	37	11	85396854	85396854	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:85396854T>A	ENST00000316398.3	-	1	466	c.320A>T	c.(319-321)cAg>cTg	p.Q107L		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	107						cytoplasm|nucleus		p.Q107L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTCAGCCTCCTGCATCATCTT	0.562000													13	89					0	0	0.001855	0	0
PRUNE2	158471	broad.mit.edu	37	9	79328486	79328486	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:79328486C>A	ENST00000376718.3	-	7	1031	c.908G>T	c.(907-909)tGc>tTc	p.C303F	PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	303					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.C303F(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CACCTGACTGCACAGCTCCAT	0.522000													3	14					6.4e-05	7.12701e-05	0.004672	1	0
ITGA5	3678	broad.mit.edu	37	12	54802718	54802718	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:54802718G>A	ENST00000293379.4	-	5	865	c.604C>T	c.(604-606)Cag>Tag	p.Q202*	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	202					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	p.Q202*(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CAGTAACCCTGTCCTGCTGCC	0.577000													30	35					0	0	0.008361	0	0
CLASP2	23122	broad.mit.edu	37	3	33626403	33626403	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:33626403C>A	ENST00000399362.4	-	22	2431	c.2078G>T	c.(2077-2079)cGg>cTg	p.R693L	CLASP2_ENST00000359576.5_Missense_Mutation_p.R693L|CLASP2_ENST00000307312.7_Missense_Mutation_p.R182L|CLASP2_ENST00000480013.1_Missense_Mutation_p.R460L|CLASP2_ENST00000539981.1_Missense_Mutation_p.R463L|CLASP2_ENST00000468888.2_Missense_Mutation_p.R694L|CLASP2_ENST00000461133.3_Missense_Mutation_p.R460L	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	694								p.R693L(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						AGACCCAGACCGGCTACCAGC	0.418000													26	31					4.7796e-09	6.02735e-09	0.004656	1	0
TOM1L2	146691	broad.mit.edu	37	17	17754212	17754212	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:17754212C>A	ENST00000581396.1	-	12	1279	c.1183G>T	c.(1183-1185)Gac>Tac	p.D395Y	TOM1L2_ENST00000535933.1_Missense_Mutation_p.D421Y|TOM1L2_ENST00000542206.1_Missense_Mutation_p.D326Y|TOM1L2_ENST00000540946.1_Intron|TOM1L2_ENST00000395739.4_Missense_Mutation_p.D400Y|TOM1L2_ENST00000478943.1_Missense_Mutation_p.D178Y|TOM1L2_ENST00000379504.3_Missense_Mutation_p.D445Y|TOM1L2_ENST00000318094.10_Missense_Mutation_p.D400Y	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	445					intracellular protein transport	intracellular		p.D445Y(1)|p.D395Y(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CTCACCAGGTCGGTCCTGAGC	0.622000													26	33					5.61819e-17	8.29128e-17	0.005443	1	0
HTT	3064	broad.mit.edu	37	4	3176790	3176790	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:3176790C>T	ENST00000355072.5	+	33	4508	c.4363C>T	c.(4363-4365)Ctg>Ttg	p.L1455L		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1455					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	p.L1455L(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCTGGCGCAGCTGGTTCAGTT	0.373000													27	81					0	0	0.006320	0	0
NIPAL4	348938	broad.mit.edu	37	5	156895745	156895745	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:156895745T>A	ENST00000311946.7	+	4	652	c.536T>A	c.(535-537)gTt>gAt	p.V179D	NIPAL4_ENST00000435489.2_Missense_Mutation_p.V160D|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	179						integral to membrane	receptor activity	p.V117D(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						GCTGGAGAAGTTGCCAACTTT	0.522000													59	52					0	0	0.003610	0	0
MUC3A	4584	broad.mit.edu	37	7	100552728	100552728	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:100552728C>A	ENST00000319509.7	+	1	1479	c.1479C>A	c.(1477-1479)cgC>cgA	p.R493R						mucin 3A, cell surface associated									p.R493R(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GGACAACTCGCATCACTTCTC	0.562000													61	146					1.904e-12	2.58547e-12	0.003610	1	0
CACNA2D4	93589	broad.mit.edu	37	12	2022273	2022273	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:2022273G>T	ENST00000382722.5	-	3	704	c.342C>A	c.(340-342)atC>atA	p.I114I	CACNA2D4_ENST00000587995.1_Silent_p.I114I|CACNA2D4_ENST00000585732.1_Silent_p.I114I|CACNA2D4_ENST00000585708.1_Silent_p.I50I|CACNA2D4_ENST00000586184.1_Silent_p.I114I|CACNA2D4_ENST00000588077.1_Silent_p.I50I	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	114						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.I114I(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CCACCTCCTCGATCTTCAGAC	0.537000													15	31					3.41278e-10	4.43662e-10	0.004990	1	0
SMAD3	4088	broad.mit.edu	37	15	67473647	67473647	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:67473647C>T	ENST00000327367.4	+	6	1037	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C	SMAD3_ENST00000540846.2_Missense_Mutation_p.R138C|SMAD3_ENST00000537194.2_Missense_Mutation_p.R48C|SMAD3_ENST00000439724.3_Missense_Mutation_p.R199C	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	243	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	p.R199C(1)|p.R243C(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GCTGAACCAGCGCGTCGGGGA	0.607000													4	20					0	0	0.009096	0	0
UXS1	80146	broad.mit.edu	37	2	106717570	106717570	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:106717570G>C	ENST00000283148.7	-	12	1025	c.928C>G	c.(928-930)Cta>Gta	p.L310V	UXS1_ENST00000428048.2_Missense_Mutation_p.L149V|UXS1_ENST00000409501.3_Missense_Mutation_p.L305V|UXS1_ENST00000409032.1_Missense_Mutation_p.L137V|UXS1_ENST00000540130.1_Missense_Mutation_p.L248V	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	305					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	p.L310V(1)|p.L305V(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CCATTCACTAGATCGCTGGAA	0.552000													3	82					0	0	0.004672	0	0
KRT28	162605	broad.mit.edu	37	17	38948732	38948732	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:38948732C>G	ENST00000306658.7	-	8	1407	c.1342G>C	c.(1342-1344)Gaa>Caa	p.E448Q		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	448	Tail.					cytoplasm|intermediate filament	structural molecule activity	p.E448Q(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GATGTCTTTTCTTCAATGGAG	0.363000													21	37					0	0	0.002299	0	0
DLX1	1745	broad.mit.edu	37	2	172952791	172952791	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:172952791G>C	ENST00000361725.4	+	3	1026	c.574G>C	c.(574-576)Gcg>Ccg	p.A192P	DLX1_ENST00000341900.6_Missense_Mutation_p.G125A|DLX1_ENST00000550686.1_3'UTR	NM_178120.4	NP_835221.2	P56177	DLX1_HUMAN	distal-less homeobox 1	192						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A192P(1)		central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GCAGGGTGGGGCGGCTCTGGA	0.612000													63	72					0	0	0.003610	0	0
DGKB	1607	broad.mit.edu	37	7	14797349	14797349	+	Silent	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:14797349T>A	ENST00000403951.2	-	3	497	c.78A>T	c.(76-78)acA>acT	p.T26T	DGKB_ENST00000402815.1_Silent_p.T26T|DGKB_ENST00000258767.5_Silent_p.T26T|DGKB_ENST00000399322.3_Silent_p.T26T|DGKB_ENST00000407950.1_Silent_p.T26T|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Silent_p.T26T|DGKB_ENST00000406247.3_Silent_p.T26T			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	26					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.T26T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TTAATTTCTTTGTAGAATCTA	0.323000													11	87					0	0	0.000978	0	0
ECT2L	345930	broad.mit.edu	37	6	139159550	139159550	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:139159550T>A	ENST00000423192.1	+	4	402	c.241T>A	c.(241-243)Tta>Ata	p.L81I	ECT2L_ENST00000367682.2_Missense_Mutation_p.L81I|ECT2L_ENST00000541398.1_Missense_Mutation_p.L12I			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	81	F-box.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.L81I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CTCTACAGTGTTACCACGCTT	0.403000			"""N, Splice, Mis"""		ETP ALL								11	52					0	0	0.001855	0	0
FLT3	2322	broad.mit.edu	37	13	28623625	28623625	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr13:28623625C>T	ENST00000380982.4	-	8	1013	c.932G>A	c.(931-933)cGg>cAg	p.R311Q	FLT3_ENST00000241453.7_Missense_Mutation_p.R311Q|FLT3_ENST00000537084.1_Missense_Mutation_p.R311Q			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	311	Ig-like C2-type.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.R311Q(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AAACAGAATCCGTATCATAGT	0.378000			"""Mis, O"""		"""AML, ALL"""								36	46					0	0	0.002836	0	0
MRPS18B	28973	broad.mit.edu	37	6	30593315	30593315	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:30593315G>T	ENST00000259873.4	+	7	675	c.518G>T	c.(517-519)cGg>cTg	p.R173L	MRPS18B_ENST00000472229.1_3'UTR|MRPS18B_ENST00000506373.2_3'UTR	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	173					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	p.R173L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						GTTGAACCACGGGACCTTGAC	0.502000													58	236					2.43698e-19	3.67078e-19	0.003610	1	0
PCMTD2	55251	broad.mit.edu	37	20	62904645	62904645	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:62904645C>G	ENST00000308824.6	+	6	905	c.778C>G	c.(778-780)Cat>Gat	p.H260D	PCMTD2_ENST00000299468.7_Intron|PCMTD2_ENST00000369758.3_Missense_Mutation_p.H233D|PCMTD2_ENST00000266078.6_Missense_Mutation_p.H36D	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	260						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	p.H260D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AAAGATTATTCATCAGGAAAC	0.502000													20	107					0	0	0.008871	0	0
AFF2	2334	broad.mit.edu	37	X	147919203	147919203	+	Silent	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:147919203T>A	ENST00000370460.2	+	5	1598	c.1119T>A	c.(1117-1119)acT>acA	p.T373T	AFF2_ENST00000342251.3_Intron|AFF2_ENST00000286437.5_Intron|AFF2_ENST00000370457.5_Intron|AFF2_ENST00000370458.1_Intron	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	373					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.T373T(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCTCACTTCCATGCATA	0.403000													32	73					0	0	0.005524	0	0
FAM78B	149297	broad.mit.edu	37	1	166039623	166039623	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:166039623C>T	ENST00000338353.3	-	3	1230	c.641G>A	c.(640-642)aGg>aAg	p.R214K	FAM78B_ENST00000354422.3_Missense_Mutation_p.R214K			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	214								p.R214K(1)		central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					CTGCTGAGTCCTGCCCACCAG	0.587000													18	75					0	0	0.004990	0	0
ITGB8	3696	broad.mit.edu	37	7	20421493	20421493	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:20421493C>T	ENST00000222573.3	+	6	1629	c.945C>T	c.(943-945)gtC>gtT	p.V315V	ITGB8_ENST00000537992.1_Silent_p.V180V	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	315	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	p.V315V(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						ACGTCTATGTCAAATCGACAA	0.398000													49	24					0	0	0.003610	0	0
RXFP1	59350	broad.mit.edu	37	4	159493974	159493974	+	Silent	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:159493974T>C	ENST00000307765.5	+	2	425	c.174T>C	c.(172-174)gaT>gaC	p.D58D	RXFP1_ENST00000423548.1_Silent_p.D58D|RXFP1_ENST00000448688.2_5'UTR|RXFP1_ENST00000460056.2_5'UTR|RXFP1_ENST00000470033.1_Silent_p.D58D|RXFP1_ENST00000343542.5_Silent_p.D58D	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	58	LDL-receptor class A.					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.D58D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ATCAGGCCGATGAGGACAACT	0.532000													11	52					0	0	0.000978	0	0
NCOA3	8202	broad.mit.edu	37	20	46275899	46275899	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:46275899G>T	ENST00000372004.3	+	18	3551	c.3335G>T	c.(3334-3336)gGa>gTa	p.G1112V	NCOA3_ENST00000371997.3_Missense_Mutation_p.G1107V|NCOA3_ENST00000371998.3_Missense_Mutation_p.G1112V|NCOA3_ENST00000341724.6_Missense_Mutation_p.G1042V	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	1112	Acetyltransferase.				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.G1112V(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						GGATTATATGGACAGACATAC	0.453000													28	47					1.32143e-28	2.1239e-28	0.006320	1	0
NRSN1	140767	broad.mit.edu	37	6	24145935	24145935	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:24145935C>A	ENST00000378491.4	+	4	650	c.349C>A	c.(349-351)Ctg>Atg	p.L117M		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	117					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		p.L117M(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						CATGTACAAGCTGGCAGGAGC	0.498000													27	73					1.17739e-12	1.61117e-12	0.005443	1	0
CACNB1	782	broad.mit.edu	37	17	37347809	37347809	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:37347809G>C	ENST00000394303.3	-	3	416	c.209C>G	c.(208-210)tCt>tGt	p.S70C	CACNB1_ENST00000582877.1_5'UTR|CACNB1_ENST00000394310.3_Missense_Mutation_p.S70C|CACNB1_ENST00000344140.5_Missense_Mutation_p.S70C	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	70					axon guidance	voltage-gated calcium channel complex		p.S70C(2)|p.S70Y(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	AGATACATCAGAGTCTGATGG	0.587000													5	56					0	0	0.000602	0	0
NOX3	50508	broad.mit.edu	37	6	155728268	155728268	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:155728268G>C	ENST00000159060.2	-	12	1678	c.1576C>G	c.(1576-1578)Ccc>Gcc	p.P526A		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	526							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	p.P526A(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CCTTACCTGGGGTGATTGTAG	0.488000													27	42					0	0	0.008361	0	0
TBX15	6913	broad.mit.edu	37	1	119427739	119427739	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:119427739G>T	ENST00000369429.3	-	8	1434	c.1425C>A	c.(1423-1425)tcC>tcA	p.S475S	TBX15_ENST00000207157.3_Silent_p.S369S			Q96SF7	TBX15_HUMAN	T-box 15	475						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q370K(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)		ACTGAAACTGGGAAGTGGGAA	0.572000													22	32					4.35082e-09	5.5102e-09	0.010504	1	0
DGKB	1607	broad.mit.edu	37	7	14378256	14378256	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:14378256C>A	ENST00000403951.2	-	23	2428	c.2009G>T	c.(2008-2010)gGa>gTa	p.G670V	DGKB_ENST00000402815.1_Missense_Mutation_p.G669V|DGKB_ENST00000258767.5_Missense_Mutation_p.G670V|DGKB_ENST00000399322.3_Missense_Mutation_p.G670V|DGKB_ENST00000407950.1_Missense_Mutation_p.G662V|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Missense_Mutation_p.G651V|DGKB_ENST00000406247.3_Missense_Mutation_p.G670V			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	670					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.G670V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	AAGATTGGATCCTCCATGCAT	0.403000													11	176					3.86212e-05	4.32166e-05	0.008291	1	0
TCERG1L	256536	broad.mit.edu	37	10	133106583	133106583	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:133106583C>A	ENST00000368642.4	-	3	646	c.561G>T	c.(559-561)ggG>ggT	p.G187G		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	187								p.G146G(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		GCTTTTCATGCCCATGGAAAA	0.493000													10	48					0.00829132	0.0087884	0.008291	1	0
UNG	7374	broad.mit.edu	37	12	109547647	109547647	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:109547647T>G	ENST00000336865.2	+	6	997	c.788T>G	c.(787-789)gTa>gGa	p.V263G	UNG_ENST00000242576.2_Missense_Mutation_p.V272G	NM_003362.3	NP_003353.1	P13051	UNG_HUMAN	uracil-DNA glycosylase	272					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity	p.V263G(1)|p.V272G(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CGGCACCATGTACTACAGACG	0.413000								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM				3	157					0	0	0.009096	0	0
SOGA2	23255	broad.mit.edu	37	18	8783844	8783844	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr18:8783844A>T	ENST00000359865.3	+	6	876	c.734A>T	c.(733-735)cAg>cTg	p.Q245L	SOGA2_ENST00000400050.3_Missense_Mutation_p.Q245L|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Missense_Mutation_p.Q245L|SOGA2_ENST00000306329.11_Missense_Mutation_p.Q605L	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	596	Pro-rich.							p.Q245L(1)									ATGCGGGGCCAGCAGGAGCGG	0.657000													32	36					0	0	0.003755	0	0
C9	735	broad.mit.edu	37	5	39341300	39341300	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:39341300A>G	ENST00000263408.4	-	4	519	c.424T>C	c.(424-426)Tgc>Cgc	p.C142R	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	142	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		p.C142R(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CTGTCTCTGCAGGGGGGACGG	0.463000													13	224					0	0	0.001368	0	0
OR10G9	219870	broad.mit.edu	37	11	123894352	123894352	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:123894352C>T	ENST00000375024.1	+	1	633	c.633C>T	c.(631-633)ctC>ctT	p.L211L		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L211L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GCTGCTTTCTCCTGATAGTGC	0.567000													27	121					0	0	0.004656	0	0
LRRC7	57554	broad.mit.edu	37	1	70291429	70291429	+	Splice_Site	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:70291429A>T	ENST00000310961.5	+	6	740		c.e6-1		LRRC7_ENST00000415775.2_Splice_Site|LRRC7_ENST00000035383.5_Splice_Site|LRRC7_ENST00000370958.1_Splice_Site			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7							centrosome|focal adhesion|nucleolus	protein binding	p.?(2)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTCACATTTTAGGTGTACAAG	0.269000													3	41					0	0	0.004672	0	0
VTA1	51534	broad.mit.edu	37	6	142510618	142510618	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:142510618T>C	ENST00000367630.4	+	5	525	c.467T>C	c.(466-468)tTa>tCa	p.L156S	VTA1_ENST00000367621.1_Missense_Mutation_p.L98S|VTA1_ENST00000491881.1_3'UTR|VTA1_ENST00000452973.2_Missense_Mutation_p.L98S	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	156	Interaction with IST1.			CL -> V (in Ref. 3; AAF36148).	cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	p.L156S(1)		endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		CATAATTGTTTAAAGAATGGG	0.343000													58	37					0	0	0.003610	0	0
HNRNPF	3185	broad.mit.edu	37	10	43882738	43882738	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:43882738G>T	ENST00000443950.2	-	3	1081	c.595C>A	c.(595-597)Ctg>Atg	p.L199M	HNRNPF_ENST00000357065.4_Missense_Mutation_p.L199M|HNRNPF_ENST00000337970.3_Missense_Mutation_p.L199M|HNRNPF_ENST00000356053.3_Missense_Mutation_p.L199M|HNRNPF_ENST00000544000.1_Missense_Mutation_p.L199M	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	199					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.L199M(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						ATGAACTTCAGAGGGGGATCT	0.562000													28	88					2.48779e-11	3.28731e-11	0.005443	1	0
NLRP3	114548	broad.mit.edu	37	1	247587692	247587692	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:247587692G>T	ENST00000366497.2	+	4	1727	c.947G>T	c.(946-948)gGa>gTa	p.G316V	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.G316V|NLRP3_ENST00000336119.3_Missense_Mutation_p.G316V|NLRP3_ENST00000348069.2_Missense_Mutation_p.G316V|NLRP3_ENST00000391827.2_Missense_Mutation_p.G316V|NLRP3_ENST00000391828.3_Missense_Mutation_p.G316V	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	316	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.G316V(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAGCACATAGGACCGCTCTGC	0.567000													18	79					2.94398e-08	3.61958e-08	0.007413	1	0
LILRB5	10990	broad.mit.edu	37	19	54760611	54760611	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:54760611C>T	ENST00000450632.1	-	3	173	c.96G>A	c.(94-96)tgG>tgA	p.W32*	LILRB5_ENST00000345866.6_Nonsense_Mutation_p.W32*|LILRB5_ENST00000316219.5_Nonsense_Mutation_p.W32*|LILRB5_ENST00000449561.2_Nonsense_Mutation_p.W32*			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	32	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	p.W32*(2)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGGCTCAGCCCAGAGGGTGG	0.622000													45	34					0	0	0.002522	0	0
FAM135B	51059	broad.mit.edu	37	8	139209824	139209824	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:139209824C>T	ENST00000395297.1	-	8	928	c.758G>A	c.(757-759)cGg>cAg	p.R253Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	253								p.R253Q(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACGGAGACCCCGGTAAGCGTG	0.607000										HNSCC(54;0.14)			15	58					0	0	0.004007	0	0
PBLD	64081	broad.mit.edu	37	10	70056647	70056647	+	Silent	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:70056647T>A	ENST00000358769.2	-	3	382	c.180A>T	c.(178-180)gcA>gcT	p.A60A	PBLD_ENST00000277795.4_Silent_p.A60A|PBLD_ENST00000336578.1_Silent_p.A27A|PBLD_ENST00000309049.4_Silent_p.A60A|PBLD_ENST00000432941.1_Silent_p.A60A	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	60					biosynthetic process		isomerase activity	p.A60A(2)		endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						ATTTACTTTGTGCAAAGTTGT	0.438000													16	75					0	0	0.003163	0	0
TBX20	57057	broad.mit.edu	37	7	35288379	35288379	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:35288379A>G	ENST00000408931.3	-	3	981	c.455T>C	c.(454-456)aTc>aCc	p.I152T		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	152			I -> M (in ASD4).			nucleus	DNA binding	p.I152T(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						CACAGGGACGATGTCCATCAG	0.597000													36	39					0	0	0.003271	0	0
FREM1	158326	broad.mit.edu	37	9	14776091	14776091	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:14776091G>T	ENST00000380881.4	-	26	5371	c.4556C>A	c.(4555-4557)gCc>gAc	p.A1519D	FREM1_ENST00000422223.2_Missense_Mutation_p.A1518D|FREM1_ENST00000380894.1_Missense_Mutation_p.A54D|FREM1_ENST00000380880.3_Missense_Mutation_p.A1518D			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1518					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.A1519D(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GGCCCCTTGGGCCAGTCTCAA	0.607000													14	91					1.5842e-08	1.9669e-08	0.001855	1	0
MAGI1	9223	broad.mit.edu	37	3	65367627	65367627	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:65367627C>G	ENST00000330909.8	-	17	2709	c.2710G>C	c.(2710-2712)Gtg>Ctg	p.V904L	MAGI1_ENST00000402939.2_Missense_Mutation_p.V876L|MAGI1_ENST00000483466.1_Missense_Mutation_p.V904L|MAGI1_ENST00000497477.2_Missense_Mutation_p.V876L	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	904					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.V904L(1)|p.V876L(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AGCTGGACCACAAGCTGGTGT	0.507000													15	39					0	0	0.003163	0	0
CDCA7	83879	broad.mit.edu	37	2	174228182	174228182	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:174228182A>C	ENST00000306721.3	+	4	716	c.613A>C	c.(613-615)Aaa>Caa	p.K205Q	CDCA7_ENST00000410101.3_Missense_Mutation_p.K161Q|CDCA7_ENST00000347703.3_Missense_Mutation_p.K126Q|CDCA7_ENST00000392567.2_Missense_Mutation_p.K126Q|CDCA7_ENST00000410019.3_Missense_Mutation_p.K84Q	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	126					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.K205Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			AAAGCAAAACAAAGCAATGGT	0.348000													24	44					0	0	0.003954	0	0
PCDH15	65217	broad.mit.edu	37	10	56106133	56106133	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:56106133C>A	ENST00000373965.2	-	6	980	c.586G>T	c.(586-588)Gat>Tat	p.D196Y	PCDH15_ENST00000373957.3_Missense_Mutation_p.D174Y|PCDH15_ENST00000395432.2_Missense_Mutation_p.D196Y|PCDH15_ENST00000361849.3_Missense_Mutation_p.D196Y|PCDH15_ENST00000414778.1_Missense_Mutation_p.D201Y|PCDH15_ENST00000320301.6_Missense_Mutation_p.D196Y|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395433.1_Missense_Mutation_p.D174Y|PCDH15_ENST00000395440.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395430.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395446.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000373955.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000437009.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395442.1_Missense_Mutation_p.D196Y|PCDH15_ENST00000395445.1_Missense_Mutation_p.D196Y	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	196	Cadherin 2.				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.D196Y(2)|p.D201Y(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)				ACCGGATCATCTGGATTATAC	0.308000										HNSCC(58;0.16)			24	93					1.22574e-08	1.52613e-08	0.002299	1	0
KPRP	448834	broad.mit.edu	37	1	152732910	152732910	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:152732910C>A	ENST00000368773.1	+	2	904	c.846C>A	c.(844-846)taC>taA	p.Y282*	KPRP_ENST00000606109.1_Nonsense_Mutation_p.Y282*	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	282	Pro-rich.					cytoplasm		p.Y282_L283>*(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGCAGCTACCTGCCACTAA	0.597000													47	63					6.21074e-16	9.03009e-16	0.002852	1	0
PCDHGA1	56114	broad.mit.edu	37	5	140712360	140712360	+	Silent	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:140712360C>G	ENST00000517417.1	+	1	2109	c.2109C>G	c.(2107-2109)gtC>gtG	p.V703V	PCDHGA1_ENST00000378105.3_Silent_p.V703V	NM_018912.2	NP_061735.1												p.V703V(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCTGCGTCTTCCTGGCCT	0.672000													67	57					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179641663	179641663	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:179641663C>A	ENST00000589042.1	-	28	5152	c.4928G>T	c.(4927-4929)tGc>tTc	p.C1643F	TTN_ENST00000591111.1_Missense_Mutation_p.C1643F|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.C1643F|TTN_ENST00000359218.5_Missense_Mutation_p.C1597F|TTN_ENST00000460472.2_Missense_Mutation_p.C1597F|TTN_ENST00000342175.6_Missense_Mutation_p.C1597F|TTN_ENST00000342992.6_Missense_Mutation_p.C1643F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1377	Ig-like 7.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.C1597F(3)|p.C1643F(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTACTTTGCATCTTGTAGT	0.458000													22	23					8.10497e-08	9.82825e-08	0.010504	1	0
CXADRP3	440224	broad.mit.edu	37	18	14478156	14478156	+	RNA	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr18:14478156G>T	ENST00000581457.1	-	0	1752					NR_024076.1																						CAGATGAGACGTATGGAGGCT	0.418000													14	34					1.49906e-05	1.69893e-05	0.002450	1	0
DOCK5	80005	broad.mit.edu	37	8	25101273	25101273	+	Splice_Site	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:25101273G>T	ENST00000276440.7	+	2	171	c.127_splice	c.e2+1	p.G43_splice	DOCK5_ENST00000481100.1_Splice_Site_p.G43_splice|DOCK5_ENST00000410074.1_Splice_Site_p.G43_splice	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	43	SH3.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.G43C(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)		GATGTACGAGGGTAAGTCTGG	0.433000													4	18					0.00909568	0.00956074	0.009096	1	0
CENPP	401541	broad.mit.edu	37	9	95142109	95142109	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:95142109G>C	ENST00000375587.3	+	5	1047	c.532G>C	c.(532-534)Gaa>Caa	p.E178Q		NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	178					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		p.E178Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						GGAGTGGTTTGAATATCGTAA	0.323000													23	34					0	0	0.002299	0	0
ZNF181	339318	broad.mit.edu	37	19	35232200	35232200	+	Missense_Mutation	SNP	T	T	G	rs143797666		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:35232200T>G	ENST00000392232.3	+	6	1214	c.1046T>G	c.(1045-1047)gTc>gGc	p.V349G	ZNF181_ENST00000492450.1_Missense_Mutation_p.V305G|ZNF181_ENST00000459757.1_Missense_Mutation_p.V304G			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V241G(4)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTTAGCCATGTCTCATCACTT	0.413000													3	123					0	0	0.001168	0	0
ARHGAP5	394	broad.mit.edu	37	14	32562038	32562038	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:32562038G>T	ENST00000345122.3	+	2	2478	c.2163G>T	c.(2161-2163)ttG>ttT	p.L721F	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.L721F|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.L721F|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.L721F	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	721					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.L721_A722>FS(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GGCAGCAGTTGGCAAACAAGT	0.383000													16	49					1.15088e-07	1.38043e-07	0.004007	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102472468	102472468	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:102472468A>T	ENST00000360184.4	+	27	5841	c.5677A>T	c.(5677-5679)Aca>Tca	p.T1893S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1893	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.T1893S(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTTGACAATGACACAAGCCTT	0.453000													41	42					0	0	0.003214	0	0
MS4A3	932	broad.mit.edu	37	11	59828749	59828749	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:59828749G>T	ENST00000278865.3	+	2	189	c.116G>T	c.(115-117)gGa>gTa	p.G39V	MS4A3_ENST00000358152.2_Missense_Mutation_p.G39V|MS4A3_ENST00000526199.1_3'UTR|MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000534744.1_Missense_Mutation_p.G39V	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	39						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	p.G39L(1)		endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CCCATAGATGGATCACCAGAT	0.453000													9	50					1.76689e-08	2.17843e-08	0.006214	1	0
OR11L1	391189	broad.mit.edu	37	1	248004727	248004727	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:248004727G>A	ENST00000355784.2	-	1	527	c.472C>T	c.(472-474)Ctg>Ttg	p.L158L		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L158M(1)|p.L158L(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)			AGGGAAGGCAGAAAGCCTGTG	0.582000													4	113					0	0	0.009096	0	0
GNG12	55970	broad.mit.edu	37	1	68173367	68173367	+	Translation_Start_Site	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:68173367C>G	ENST00000370982.3	-	3	202	c.3G>C	c.(1-3)atG>atC	p.M1I		NM_018841.5	NP_061329.3	Q9UBI6	GBG12_HUMAN	guanine nucleotide binding protein (G protein), gamma 12	1					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity	p.M1I(1)		lung(3)	3						TTTTGCTGGACATCTTCAATT	0.343000													22	194					0	0	0.002299	0	0
SLC35F2	54733	broad.mit.edu	37	11	107676120	107676120	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:107676120C>A	ENST00000525071.1	-	8	1284	c.696G>T	c.(694-696)gtG>gtT	p.V232V	SLC35F2_ENST00000375682.4_Silent_p.V185V|SLC35F2_ENST00000429869.1_Silent_p.V232V|SLC35F2_ENST00000525815.1_Silent_p.V232V|SLC35F2_ENST00000265836.7_Silent_p.V84V			Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	232					transport	integral to membrane		p.V232V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		CAAACAGGCCCACCATTCCTA	0.363000													10	28					0.00621372	0.00661002	0.006214	1	0
CD99L2	83692	broad.mit.edu	37	X	149963906	149963906	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:149963906G>C	ENST00000370377.3	-	5	448	c.331C>G	c.(331-333)Cca>Gca	p.P111A	CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000466436.1_Missense_Mutation_p.P62A	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	111					cell adhesion	cell junction|integral to membrane		p.P111A(1)		endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTATTTGCTGGAGCTCTGGTG	0.512000													50	91					0	0	0.003610	0	0
FLG	2312	broad.mit.edu	37	1	152280798	152280798	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:152280798A>T	ENST00000368799.1	-	3	6599	c.6564T>A	c.(6562-6564)agT>agA	p.S2188R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2188	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S2188R(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTGCTTGCACTTCTGGATC	0.532000									Ichthyosis				111	620					0	0	0.003610	0	0
CYP2C19	1557	broad.mit.edu	37	10	96609673	96609673	+	Splice_Site	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:96609673G>T	ENST00000371321.3	+	8	1231		c.e8-1		CYP2C19_ENST00000464755.1_Splice_Site	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19						exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.?(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CTTGTTTCTAGGGCACAACCA	0.408000													21	103					1.42536e-11	1.90335e-11	0.004656	1	0
RNF133	168433	broad.mit.edu	37	7	122338610	122338610	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:122338610C>A	ENST00000340112.2	-	1	600	c.363G>T	c.(361-363)gaG>gaT	p.E121D	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	121	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	p.E121D(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TGGCTCCCTTCTCAGTTGCCA	0.458000													53	101					4.25531e-23	6.64611e-23	0.003610	1	0
IGLV3-32	28787	broad.mit.edu	37	22	22937303	22937303	+	RNA	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr22:22937303C>T	ENST00000390303.2	+	0	160																											GATCACCTGCCAGGGAGACAG	0.582000											OREG0026367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	31					0	0	0.004007	0	0
ZNF560	147741	broad.mit.edu	37	19	9581105	9581105	+	Silent	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:9581105A>G	ENST00000301480.4	-	7	624	c.411T>C	c.(409-411)gaT>gaC	p.D137D		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	137	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D137D(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CCAGCATCACATCACTGTACA	0.458000													34	53					0	0	0.004289	0	0
IFI6	2537	broad.mit.edu	37	1	27994737	27994737	+	Splice_Site	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:27994737C>G	ENST00000361157.6	-	4	425	c.298_splice	c.e4+1	p.G100_splice	IFI6_ENST00000339145.4_Splice_Site_p.G108_splice|IFI6_ENST00000362020.4_Splice_Site_p.G104_splice	NM_002038.3|NM_022872.2|NM_022873.2	NP_002029.3|NP_075010.1|NP_075011.1	P09912	IFI6_HUMAN	interferon, alpha-inducible protein 6	100					anti-apoptosis|negative regulation of caspase activity|negative regulation of mitochondrial depolarization|release of cytochrome c from mitochondria|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion	protein binding	p.G100R(1)		lung(1)|ovary(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCGCACTCACCGAGGCTCTGC	0.597000													3	2					0	0	0.009096	0	0
PXK	54899	broad.mit.edu	37	3	58368341	58368341	+	Missense_Mutation	SNP	A	A	G	rs144000489		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:58368341A>G	ENST00000463280.1	+	2	294	c.203A>G	c.(202-204)aAc>aGc	p.N68S	PXK_ENST00000302779.5_Missense_Mutation_p.N84S|PXK_ENST00000356151.2_Missense_Mutation_p.N101S|PXK_ENST00000484288.1_Missense_Mutation_p.N101S|PXK_ENST00000536660.1_Intron|PXK_ENST00000383715.4_Missense_Mutation_p.N84S|PXK_ENST00000479241.1_Missense_Mutation_p.N84S|PXK_ENST00000383716.3_Missense_Mutation_p.N68S			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	101	PX.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	p.N101S(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		AACTATCTCAACGTGATCACA	0.383000													9	43					0	0	0.006214	0	0
RFX7	64864	broad.mit.edu	37	15	56390279	56390279	+	Splice_Site	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr15:56390279C>A	ENST00000423270.1	-	8	1106	c.1107_splice	c.e8+1	p.P369_splice	RFX7_ENST00000317318.6_Splice_Site_p.P369_splice|RFX7_ENST00000559447.2_Splice_Site_p.P272_splice|RFX7_ENST00000422057.1_Splice_Site_p.P272_splice	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	272					regulation of transcription, DNA-dependent	nucleus	DNA binding	p.P369P(1)|p.P272P(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATTATATTACCGGAATGGGAC	0.403000													8	29					2.17888e-05	2.46308e-05	0.006214	1	0
SFMBT2	57713	broad.mit.edu	37	10	7244452	7244452	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:7244452G>C	ENST00000361972.4	-	13	1567	c.1477C>G	c.(1477-1479)Cca>Gca	p.P493A	SFMBT2_ENST00000397167.1_Missense_Mutation_p.P493A	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	493					regulation of transcription, DNA-dependent	nucleus		p.P493A(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TGTTTCTCTGGTTGCACGACT	0.398000													16	38					0	0	0.006122	0	0
DAB1	1600	broad.mit.edu	37	1	57528586	57528586	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:57528586A>G	ENST00000371236.2	-	9	957	c.694T>C	c.(694-696)Tat>Cat	p.Y232H	DAB1_ENST00000420954.2_Missense_Mutation_p.Y197H|DAB1_ENST00000439789.2_Missense_Mutation_p.Y113H|DAB1_ENST00000371231.1_Missense_Mutation_p.Y232H|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.Y232H|DAB1_ENST00000414851.2_Missense_Mutation_p.Y197H			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	232					cell differentiation|nervous system development			p.Y232H(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGCACATCATAAACACCTTCC	0.448000													16	40					0	0	0.003163	0	0
ZNF33A	7581	broad.mit.edu	37	10	38345105	38345105	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:38345105A>G	ENST00000374618.3	+	5	2231	c.2053A>G	c.(2053-2055)Aga>Gga	p.R685G	ZNF33A_ENST00000432900.2_Missense_Mutation_p.R691G|ZNF33A_ENST00000458705.2_Missense_Mutation_p.R684G|ZNF33A_ENST00000307441.9_Missense_Mutation_p.R684G|ZNF33A_ENST00000469037.2_Intron	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	684						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R684G(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TTTCCATGAGAGAAAGCACAC	0.398000													30	87					0	0	0.008361	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20610186	20610186	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:20610186C>A	ENST00000202677.6	-	10	1196	c.1054G>T	c.(1054-1056)Ggt>Tgt	p.G352C		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	352					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	p.G352C(2)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GTGGGCCCACCACCATCCAGC	0.552000													36	61					1.06647e-15	1.53795e-15	0.003755	1	0
KRT73	319101	broad.mit.edu	37	12	53004427	53004427	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr12:53004427G>C	ENST00000305748.3	-	7	1337	c.1303C>G	c.(1303-1305)Cgc>Ggc	p.R435G	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	435	Coil 2.|Rod.					keratin filament	structural molecule activity	p.R435G(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCAGCTTGCGGTAGGTGGCG	0.602000													9	46					0	0	0.000978	0	0
SNRPE	6635	broad.mit.edu	37	1	203830805	203830805	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:203830805G>T	ENST00000414487.2	+	1	63	c.18G>T	c.(16-18)caG>caT	p.Q6H	SNRPE_ENST00000483099.1_3'UTR	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	6					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding	p.Q6H(1)		breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCGTGGCCAGGGTCAGAAAG	0.562000													4	66					5.9392e-07	7.00034e-07	0.001168	1	0
GPR50	9248	broad.mit.edu	37	X	150349269	150349269	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:150349269A>T	ENST00000218316.3	+	2	1283	c.1214A>T	c.(1213-1215)aAg>aTg	p.K405M		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	405	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.K405M(2)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCACCACAAGTCTGTCTTT	0.602000													66	119					0	0	0.003610	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806523	97806523	+	Silent	SNP	T	T	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:97806523T>G	ENST00000358642.2	+	1	507	c.507T>G	c.(505-507)acT>acG	p.T169T		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T169T(1)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TGCGACTAACTTTCTGCAGGT	0.338000													5	236					0	0	0.000602	0	0
OR2G2	81470	broad.mit.edu	37	1	247751975	247751975	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:247751975A>T	ENST00000320065.1	+	1	314	c.314A>T	c.(313-315)tAc>tTc	p.Y105F	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y105F(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTTCACCTTTACAACTCCCAT	0.542000													33	150					0	0	0.003271	0	0
NRXN1	9378	broad.mit.edu	37	2	50724546	50724546	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:50724546G>T	ENST00000404971.1	-	15	4263	c.2924C>A	c.(2923-2925)aCa>aAa	p.T975K	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.T935K|NRXN1_ENST00000406859.3_Missense_Mutation_p.T935K|NRXN1_ENST00000406316.2_Missense_Mutation_p.T935K|NRXN1_ENST00000405472.3_Missense_Mutation_p.T927K|NRXN1_ENST00000402717.3_Missense_Mutation_p.T927K	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	935	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.T976K(1)|p.T975K(1)|p.T935K(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TAGGGATGTTGTCTTGAACTG	0.393000													29	45					1.77063e-15	2.53685e-15	0.005443	1	0
MRAP	56246	broad.mit.edu	37	21	33671311	33671311	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr21:33671311C>A	ENST00000399784.2	+	3	216	c.29C>A	c.(28-30)cCa>cAa	p.P10Q	MRAP_ENST00000497833.1_Intron|MRAP_ENST00000303645.5_Missense_Mutation_p.P10Q|MRAP_ENST00000399786.3_Missense_Mutation_p.P10Q|MRAP_ENST00000339944.4_Missense_Mutation_p.P10Q	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	10					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	p.P10H(2)		endometrium(1)|large_intestine(2)|lung(3)	6						GCCTCTGCCCCATACTACAGC	0.607000													19	45					1.15919e-05	1.32393e-05	0.008871	1	0
NEB	4703	broad.mit.edu	37	2	152470891	152470891	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:152470891C>A	ENST00000397345.3	-	77	11702	c.11500G>T	c.(11500-11502)Gta>Tta	p.V3834L	NEB_ENST00000604864.1_Missense_Mutation_p.V3834L|NEB_ENST00000603639.1_Missense_Mutation_p.V3834L|NEB_ENST00000427231.2_Missense_Mutation_p.V3834L|NEB_ENST00000172853.10_Missense_Mutation_p.V3591L|NEB_ENST00000409198.1_Missense_Mutation_p.V3591L	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3834					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.V3591L(1)|p.V3834L(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATGTCGCTTACAAGGATCTGA	0.527000													105	120					4.60726e-43	7.68456e-43	0.003610	1	0
SNX8	29886	broad.mit.edu	37	7	2303980	2303980	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:2303980C>A	ENST00000222990.3	-	6	777	c.735G>T	c.(733-735)cgG>cgT	p.R245R		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	245					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding	p.R245R(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		TGTCGATGGCCCGCGATGCGA	0.577000													11	56					5.16669e-11	6.80678e-11	0.000978	1	0
HK1	3098	broad.mit.edu	37	10	71103616	71103616	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:71103616G>T	ENST00000448642.2	+	7	591	c.202G>T	c.(202-204)Gat>Tat	p.D68Y	HK1_ENST00000298649.3_Missense_Mutation_p.D32Y|HK1_ENST00000360289.2_Missense_Mutation_p.D21Y|HK1_ENST00000404387.2_Missense_Mutation_p.D37Y|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000359426.6_Missense_Mutation_p.D33Y			P19367	HXK1_HUMAN	hexokinase 1	33	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	p.D37Y(1)|p.D32Y(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GCGGCTCTCCGATGAAACTCT	0.522000													40	118					2.26627e-22	3.51471e-22	0.007835	1	0
L3MBTL1	26013	broad.mit.edu	37	20	42143696	42143696	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:42143696G>C	ENST00000444063.1	+	2	412	c.280G>C	c.(280-282)Gag>Cag	p.E94Q	L3MBTL1_ENST00000457824.1_3'UTR|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.E162Q|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.E94Q|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.E162Q|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.E94Q			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	94					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E162Q(1)		breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GGACCCCCCAGAGGATGATAG	0.627000													8	46					0	0	0.003080	0	0
NLRP4	147945	broad.mit.edu	37	19	56379097	56379097	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:56379097C>A	ENST00000301295.6	+	6	2631	c.2209C>A	c.(2209-2211)Ccc>Acc	p.P737T	NLRP4_ENST00000346986.5_Intron|NLRP4_ENST00000587891.1_Missense_Mutation_p.P662T	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	737							ATP binding	p.P737N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCACCTCTCACCCATTGATTG	0.468000													24	62					1.12875e-08	1.40736e-08	0.006320	1	0
ANGPT1	284	broad.mit.edu	37	8	108334269	108334269	+	Silent	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:108334269G>C	ENST00000520734.1	-	3	348	c.63C>G	c.(61-63)ggC>ggG	p.G21G	ANGPT1_ENST00000520052.1_Silent_p.G21G			Q15389	ANGP1_HUMAN	angiopoietin 1	221					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	p.G221G(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GAGTAACCAAGCCTTGAAGGT	0.398000													6	89					0	0	0.001168	0	0
RXRG	6258	broad.mit.edu	37	1	165380320	165380320	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:165380320G>A	ENST00000359842.5	-	5	951	c.649C>T	c.(649-651)Cga>Tga	p.R217*	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	217	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.S216_R217>R*(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GCTCGCTCTCGGCTCCTCTGT	0.493000													35	42					0	0	0.004289	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060397	35060397	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:35060397C>A	ENST00000373913.3	+	3	757	c.277C>A	c.(277-279)Caa>Aaa	p.Q93K	DLGAP4_ENST00000339266.5_Missense_Mutation_p.Q93K|DLGAP4_ENST00000373907.2_Missense_Mutation_p.Q93K|DLGAP4_ENST00000401952.2_Missense_Mutation_p.Q93K			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	93					cell-cell signaling	membrane	protein binding	p.Q93K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CAGCCATGCCCAAGCCACCAA	0.627000													12	79					0.00010058	0.000111141	0.001368	1	0
HFE2	148738	broad.mit.edu	37	1	145416654	145416654	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:145416654T>A	ENST00000336751.5	+	4	1237	c.999T>A	c.(997-999)aaT>aaA	p.N333K	HFE2_ENST00000357836.5_Missense_Mutation_p.N220K|HFE2_ENST00000497365.1_Missense_Mutation_p.N107K|HFE2_ENST00000475797.1_Missense_Mutation_p.N107K	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	333					axon guidance	anchored to membrane		p.N333K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAGAGCGCAATCGTCGGGGAG	0.532000													33	42					0	0	0.004289	0	0
TCTEX1D1	200132	broad.mit.edu	37	1	67243129	67243129	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:67243129C>T	ENST00000282670.2	+	5	660	c.532C>T	c.(532-534)Ctt>Ttt	p.L178F		NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	178								p.L178I(2)|p.L178F(1)		large_intestine(2)|lung(10)|skin(1)	13						TGCAGTTTACCTTGAGTGATT	0.363000													17	76					0	0	0.004990	0	0
INSIG2	51141	broad.mit.edu	37	2	118864367	118864367	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:118864367A>G	ENST00000245787.4	+	4	630	c.424A>G	c.(424-426)Att>Gtt	p.I142V	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	142					ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex		p.I142V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						TGCACTATCCATTGGACTGTG	0.398000													45	53					0	0	0.002852	0	0
NINL	22981	broad.mit.edu	37	20	25507047	25507047	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:25507047G>A	ENST00000278886.6	-	2	250	c.177C>T	c.(175-177)gcC>gcT	p.A59A	NINL_ENST00000422516.1_Silent_p.A59A	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	59	EF-hand 2.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	p.A59A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CACTCACCCTGGCGAAATGGT	0.512000													70	144					0	0	0.003610	0	0
SLIT2	9353	broad.mit.edu	37	4	20530581	20530581	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:20530581A>G	ENST00000504154.1	+	16	1724	c.1472A>G	c.(1471-1473)gAt>gGt	p.D491G	SLIT2_ENST00000503823.1_Missense_Mutation_p.D483G|SLIT2_ENST00000273739.5_Missense_Mutation_p.D495G|SLIT2_ENST00000503837.1_Missense_Mutation_p.D487G	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	491					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.D491G(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						GGTACAGAAGATTATCGATCA	0.353000													29	105					0	0	0.002836	0	0
CP	1356	broad.mit.edu	37	3	148919898	148919898	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:148919898C>A	ENST00000264613.6	-	7	1601	c.1339G>T	c.(1339-1341)Ggc>Tgc	p.G447C		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	447	F5/8 type A 2.|Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	p.G447C(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CCCAGGATGCCAAGATGCTCT	0.443000													49	48					1.86277e-20	2.85388e-20	0.003610	1	0
SEC24C	9632	broad.mit.edu	37	10	75527670	75527670	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr10:75527670C>A	ENST00000339365.2	+	16	2248	c.2086C>A	c.(2086-2088)Ctc>Atc	p.L696I	SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000411652.2_Missense_Mutation_p.L577I|SEC24C_ENST00000345254.4_Missense_Mutation_p.L696I	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	696					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	p.L696I(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CTGTGTAGATCTCTTTCTCTT	0.517000													6	69					2.0095e-06	2.34044e-06	0.001984	1	0
CYP4F3	4051	broad.mit.edu	37	19	15769135	15769135	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:15769135C>T	ENST00000221307.7	+	10	1225	c.1177C>T	c.(1177-1179)Ccc>Tcc	p.P393S	CYP4F3_ENST00000585846.1_Missense_Mutation_p.P393S|CYP4F3_ENST00000586182.1_Missense_Mutation_p.P393S|CYP4F3_ENST00000591058.1_Missense_Mutation_p.P393S	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	393					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	p.P393S(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GAGGCTGCATCCCCCAGTCCC	0.627000													4	100					0	0	0.009096	0	0
GRIK1	2897	broad.mit.edu	37	21	31045363	31045363	+	Silent	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr21:31045363G>C	ENST00000399914.1	-	4	1187	c.666C>G	c.(664-666)ggC>ggG	p.G222G	GRIK1_ENST00000535441.1_Silent_p.G222G|GRIK1_ENST00000399909.1_Silent_p.G222G|GRIK1_ENST00000327783.4_Silent_p.G222G|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000309434.7_Silent_p.G222G|GRIK1_ENST00000389125.3_Silent_p.G222G|GRIK1_ENST00000389124.2_Silent_p.G222G|GRIK1_ENST00000399907.1_Silent_p.G222G|GRIK1_ENST00000399913.1_Silent_p.G222G			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	222					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	p.G222G(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	AGAACTCCTTGCCTTTCTTCA	0.438000													12	256					0	0	0.000978	0	0
OR10A2	341276	broad.mit.edu	37	11	6891751	6891751	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:6891751G>A	ENST00000307322.4	+	1	828	c.766G>A	c.(766-768)Gag>Aag	p.E256K		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E256K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TAATTCACCTGAGGGCAAGAA	0.423000													65	150					0	0	0.003610	0	0
OR5K2	402135	broad.mit.edu	37	3	98217388	98217388	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:98217388C>A	ENST00000427338.1	+	1	941	c.864C>A	c.(862-864)ttC>ttA	p.F288L	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F288L(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TAAATCCTTTCATTTATAGTC	0.308000													10	29					1.08611e-07	1.30806e-07	0.000978	1	0
OR2B11	127623	broad.mit.edu	37	1	247614915	247614915	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:247614915G>C	ENST00000318749.6	-	1	393	c.370C>G	c.(370-372)Ctg>Gtg	p.L124V		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L124M(1)|p.L124V(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TAGCGGTCCAGGGCCATGGCG	0.607000													17	70					0	0	0.004007	0	0
MYO7A	4647	broad.mit.edu	37	11	76867955	76867955	+	Missense_Mutation	SNP	G	G	A	rs111033283		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:76867955G>A	ENST00000409709.3	+	7	912	c.640G>A	c.(640-642)Gga>Aga	p.G214R	MYO7A_ENST00000458637.2_Missense_Mutation_p.G214R|MYO7A_ENST00000409893.1_Missense_Mutation_p.G214R|MYO7A_ENST00000409619.2_Missense_Mutation_p.G203R	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	214	Myosin head-like.		G -> R (in USH1B).		actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.G214R(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAGCCGTTTCGGAAAGTACAT	0.582000													5	56					0	0	0.003080	0	0
CELA3A	10136	broad.mit.edu	37	1	22333950	22333950	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:22333950G>T	ENST00000290122.3	+	6	603	c.584G>T	c.(583-585)gGt>gTt	p.G195V		NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A									p.G195V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AACTGGTGGGGTTCCACCGTG	0.597000													15	45					8.60227e-14	1.19005e-13	0.004007	1	0
RGS12	6002	broad.mit.edu	37	4	3441279	3441279	+	Silent	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:3441279G>C	ENST00000344733.5	+	18	5116	c.4212G>C	c.(4210-4212)gcG>gcC	p.A1404A	RGS12_ENST00000338806.4_Silent_p.A756A	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1404						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	p.A1404A(1)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GTGGCATAGCGGGGGCACAGG	0.662000													13	49					0	0	0.002450	0	0
PRSS55	203074	broad.mit.edu	37	8	10387130	10387130	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:10387130G>T	ENST00000328655.3	+	2	308	c.268G>T	c.(268-270)Gaa>Taa	p.E90*	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Nonsense_Mutation_p.E90*	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	90	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.E90*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GGCAAGAAGTGAACCTTTCTG	0.527000													92	209					3.71036e-49	6.24754e-49	0.003610	1	0
COX7A2	1347	broad.mit.edu	37	6	75950955	75950955	+	Silent	SNP	C	C	A	rs139079443		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:75950955C>A	ENST00000370081.2	-	3	451	c.141G>T	c.(139-141)acG>acT	p.T47T	COX7A2_ENST00000472311.2_Silent_p.T15T|COX7A2_ENST00000509698.1_Silent_p.T15T|COX7A2_ENST00000370089.2_Silent_p.T47T|COX7A2_ENST00000230459.4_Silent_p.T15T|COX7A2_ENST00000460985.1_Intron			P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)	15						mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity	p.T15T(1)		kidney(2)|lung(1)	3						CAGTGCTTATCGTCCTCTGCC	0.358000													98	103					7.59261e-44	1.26878e-43	0.003610	1	0
PCDH17	27253	broad.mit.edu	37	13	58207235	58207235	+	Silent	SNP	C	C	T	rs139267359		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr13:58207235C>T	ENST00000377918.3	+	1	581	c.555C>T	c.(553-555)tcC>tcT	p.S185S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	185	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.S185S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ACGTTAAGTCCCGCGGCGACG	0.637000													4	12					0	0	0.001168	0	0
PLCB4	5332	broad.mit.edu	37	20	9360751	9360751	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:9360751C>T	ENST00000378501.2	+	10	810	c.795C>T	c.(793-795)gcC>gcT	p.A265A	PLCB4_ENST00000378493.1_Silent_p.A265A|PLCB4_ENST00000414679.2_Silent_p.A265A|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Silent_p.A265A|PLCB4_ENST00000334005.3_Silent_p.A265A|PLCB4_ENST00000278655.4_Silent_p.A265A	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	265					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.A265A(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTTATGATGCCAAAAGGGCAA	0.308000													15	36					0	0	0.004990	0	0
PTPRT	11122	broad.mit.edu	37	20	40714370	40714370	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:40714370G>A	ENST00000373198.3	-	29	4271	c.4036C>T	c.(4036-4038)Cgg>Tgg	p.R1346W	PTPRT_ENST00000356100.2_Missense_Mutation_p.R1333W|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1334W|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1314W|PTPRT_ENST00000373187.1_Missense_Mutation_p.R1324W|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1323W|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1327W	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1324	Tyrosine-protein phosphatase 2.		T -> M (in some colorectal cancers; reduced phosphatase activity).		homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.R1346W(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTACTTACCCGGGCCATGTTA	0.592000													19	66					0	0	0.008871	0	0
FSCN3	29999	broad.mit.edu	37	7	127239488	127239488	+	Silent	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:127239488C>A	ENST00000265825.5	+	5	1393	c.1174C>A	c.(1174-1176)Cga>Aga	p.R392R	FSCN3_ENST00000420086.2_Silent_p.R258R	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	392						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	p.R392R(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CCTTGTATTGCGAGGTCGTTA	0.517000													24	63					1.85244e-09	2.37327e-09	0.003330	1	0
CPSF1	29894	broad.mit.edu	37	8	145619449	145619449	+	Splice_Site	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:145619449C>G	ENST00000349769.3	-	33	3905	c.3811_splice	c.e33+1	p.V1271_splice	CPSF1_ENST00000531727.1_Intron	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1271					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	p.V1271L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCCCACATACCCAGAAAACCC	0.672000													6	27					0	0	0.001984	0	0
STOML3	161003	broad.mit.edu	37	13	39550731	39550731	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr13:39550731G>T	ENST00000379631.4	-	3	519	c.175C>A	c.(175-177)Cgt>Agt	p.R59S	STOML3_ENST00000423210.1_Missense_Mutation_p.R50S	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	59						integral to membrane|plasma membrane		p.R59S(1)		breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		ACAACAGCACGTTCATACTCC	0.483000													30	14					6.00712e-18	8.92487e-18	0.002445	1	0
LRP12	29967	broad.mit.edu	37	8	105503299	105503299	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:105503299T>C	ENST00000276654.5	-	7	2290	c.2182A>G	c.(2182-2184)Agt>Ggt	p.S728G	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.S709G	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	728					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	p.S728G(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTGAGTGCACTTGTAAGCTGG	0.498000													5	77					0	0	0.001984	0	0
SC5D	6309	broad.mit.edu	37	11	121174109	121174109	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:121174109G>C	ENST00000264027.4	+	2	399	c.25G>C	c.(25-27)Gat>Cat	p.D9H	SC5D_ENST00000392789.2_Missense_Mutation_p.D9H|SC5D_ENST00000534230.1_Missense_Mutation_p.D9H	NM_006918.4	NP_008849.2			sterol-C5-desaturase									p.D9H(1)									CCGTGTTGCAGATTACTATTT	0.383000													24	78					0	0	0.003330	0	0
NUGGC	389643	broad.mit.edu	37	8	27898609	27898609	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:27898609C>T	ENST00000413272.2	-	13	1712	c.1570G>A	c.(1570-1572)Gcc>Acc	p.A524T	NUGGC_ENST00000341513.6_Missense_Mutation_p.A524T	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated									p.A524T(2)									GAAGTCCTGGCGGTCCTGACC	0.587000													5	15					0	0	0.000602	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529979	80529979	+	Silent	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:80529979C>G	ENST00000295057.3	-	2	1622	c.966G>C	c.(964-966)gtG>gtC	p.V322V	CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.V322V|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	322	LRRCT.					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.V322V(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CTAGGGCACACACGTTGCGCC	0.637000										HNSCC(69;0.2)			8	21					0	0	0.003080	0	0
TRPC4	7223	broad.mit.edu	37	13	38225534	38225534	+	Missense_Mutation	SNP	T	T	G	rs114508439	by1000genomes	TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr13:38225534T>G	ENST00000379705.3	-	8	2804	c.1947A>C	c.(1945-1947)gaA>gaC	p.E649D	TRPC4_ENST00000379679.1_Missense_Mutation_p.E476D|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000358477.2_Missense_Mutation_p.E649D|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000338947.5_Missense_Mutation_p.E476D|TRPC4_ENST00000379681.3_Missense_Mutation_p.E649D|TRPC4_ENST00000447043.1_Missense_Mutation_p.E649D|TRPC4_ENST00000355779.2_Missense_Mutation_p.E649D			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	649	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.E649D(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GAGTACCTCCTTCTTCAAAAT	0.433000													22	34					0	0	0.001882	0	0
THSD7A	221981	broad.mit.edu	37	7	11418709	11418709	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:11418709G>A	ENST00000423059.3	-	26	5040	c.4789C>T	c.(4789-4791)Cca>Tca	p.P1597S	AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000595972.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1597						integral to membrane		p.P1597S(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGCCCAAATGGCTGTAGAAAC	0.458000										HNSCC(18;0.044)			10	64					0	0	0.000978	0	0
PRSS55	203074	broad.mit.edu	37	8	10396253	10396253	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:10396253C>G	ENST00000328655.3	+	5	1049	c.1009C>G	c.(1009-1011)Ctc>Gtc	p.L337V	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Intron	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	337					proteolysis	integral to membrane	serine-type endopeptidase activity	p.L337V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CAGATCCTGGCTCCTGCTCTG	0.522000													12	183					0	0	0.001368	0	0
HGF	3082	broad.mit.edu	37	7	81381537	81381537	+	Missense_Mutation	SNP	T	T	C	rs73381183	by1000genomes	TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:81381537T>C	ENST00000222390.5	-	5	750	c.524A>G	c.(523-525)aAc>aGc	p.N175S	HGF_ENST00000423064.2_Missense_Mutation_p.N175S|HGF_ENST00000457544.2_Missense_Mutation_p.N170S|HGF_ENST00000453411.1_Missense_Mutation_p.N170S|HGF_ENST00000444829.2_Missense_Mutation_p.N175S	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	175	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.N175S(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TCGACAGTAGTTTTCCTGTAG	0.423000													28	50					0	0	0.007291	0	0
MS4A3	932	broad.mit.edu	37	11	59828748	59828748	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:59828748G>T	ENST00000278865.3	+	2	188	c.115G>T	c.(115-117)Gga>Tga	p.G39*	MS4A3_ENST00000358152.2_Nonsense_Mutation_p.G39*|MS4A3_ENST00000526199.1_3'UTR|MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000534744.1_Nonsense_Mutation_p.G39*	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	39						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	p.G39L(1)		endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				GCCCATAGATGGATCACCAGA	0.453000													8	50					5.4927e-09	6.91674e-09	0.004482	1	0
AMER3	205147	broad.mit.edu	37	2	131520777	131520777	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:131520777G>T	ENST00000423981.1	+	2	1242	c.1132G>T	c.(1132-1134)Gaa>Taa	p.E378*	AMER3_ENST00000321420.4_Nonsense_Mutation_p.E378*	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3									p.E378*(1)									CGAGCAGCCCGAATCCGTGTC	0.637000													16	23					6.49762e-13	8.90526e-13	0.006122	1	0
GIPR	2696	broad.mit.edu	37	19	46173932	46173932	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:46173932C>A	ENST00000590918.1	+	3	211	c.112C>A	c.(112-114)Cgc>Agc	p.R38S	GIPR_ENST00000263281.3_Missense_Mutation_p.R38S|GIPR_ENST00000304207.8_Missense_Mutation_p.R38S	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	38					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane		p.R38S(1)		endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GCTGTACCAGCGCTGGGAACG	0.677000													18	18					1.56452e-12	2.13103e-12	0.007413	1	0
UBASH3B	84959	broad.mit.edu	37	11	122647789	122647789	+	Silent	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:122647789C>T	ENST00000284273.5	+	3	648	c.273C>T	c.(271-273)gtC>gtT	p.V91V		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	91						cytoplasm|nucleus	protein tyrosine phosphatase activity	p.V91V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GGGAGTACGTCCTCTACCTCC	0.547000													8	54					0	0	0.003080	0	0
DSG3	1830	broad.mit.edu	37	18	29052319	29052319	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr18:29052319C>A	ENST00000257189.4	+	13	2053	c.1970C>A	c.(1969-1971)cCa>cAa	p.P657Q		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	657					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.P657Q(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGTTTTATCCCAGTTCCTGAT	0.458000													32	57					2.81731e-10	3.67874e-10	0.002096	1	0
CPXM1	56265	broad.mit.edu	37	20	2776685	2776685	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:2776685G>T	ENST00000380605.2	-	10	1429	c.1365C>A	c.(1363-1365)caC>caA	p.H455Q		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	455					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	p.H455Q(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TGGGGACGATGTGGGGCACCT	0.577000													25	75					7.92952e-12	1.06693e-11	0.003954	1	0
LGR6	59352	broad.mit.edu	37	1	202245436	202245436	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:202245436G>T	ENST00000367278.3	+	5	520	c.431G>T	c.(430-432)cGc>cTc	p.R144L	LGR6_ENST00000439764.2_Intron|LGR6_ENST00000255432.7_Missense_Mutation_p.R92L|LGR6_ENST00000308543.3_3'UTR	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	144						integral to membrane|plasma membrane	protein-hormone receptor activity	p.R144L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TCCACCAGGCGCCTAGATGCC	0.617000													18	79					1.67942e-08	2.07637e-08	0.006122	1	0
RNF213	57674	broad.mit.edu	37	17	78357710	78357710	+	Silent	SNP	C	C	G			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:78357710C>G	ENST00000582970.1	+	59	14447	c.14304C>G	c.(14302-14304)ctC>ctG	p.L4768L	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Silent_p.L4817L|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000336301.6_Silent_p.L2841L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0								p.L4817L(1)|p.L2841L(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGCCCATCCTCTGGCATTTCC	0.502000													58	69					0	0	0.003610	0	0
OR6K2	81448	broad.mit.edu	37	1	158669516	158669516	+	Silent	SNP	A	A	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:158669516A>T	ENST00000359610.2	-	1	970	c.927T>A	c.(925-927)gcT>gcA	p.A309A		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A309A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AAAATATCTTAGCTTGACCTA	0.388000													7	51					0	0	0.001984	0	0
LANCL3	347404	broad.mit.edu	37	X	37526535	37526535	+	Splice_Site	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:37526535G>T	ENST00000378621.3	+	4	1198	c.895_splice	c.e4-1	p.G299_splice	TM4SF2_ENST00000465127.1_Intron|LANCL3_ENST00000378619.3_Splice_Site_p.G299_splice	NM_198511.2	NP_940913.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	299							catalytic activity	p.?(2)		lung(4)|pancreas(1)	5						GTTTTCACAGGAATTGCCTAT	0.428000													18	13					1.45105e-14	2.03608e-14	0.006122	1	0
FGFR4	2264	broad.mit.edu	37	5	176520201	176520201	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr5:176520201G>T	ENST00000292408.4	+	9	1365	c.1120G>T	c.(1120-1122)Gcg>Tcg	p.A374S	FGFR4_ENST00000502906.1_Missense_Mutation_p.A374S|FGFR4_ENST00000393648.2_Intron|FGFR4_ENST00000393637.1_Intron|FGFR4_ENST00000292410.3_Intron	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	374					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	p.A374S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	CATCCTGTACGCGTCGGGCTC	0.682000										TSP Lung(9;0.080)			4	22					1.23904e-05	1.40967e-05	0.000602	1	0
FANCM	57697	broad.mit.edu	37	14	45668130	45668130	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr14:45668130G>C	ENST00000267430.5	+	22	6085	c.6000G>C	c.(5998-6000)atG>atC	p.M2000I	FANCM_ENST00000542564.2_Missense_Mutation_p.M1974I	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	2000	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	p.M2000I(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGAAAAGGATGGCTAACAGGT	0.284000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				4	45					0	0	0.009096	0	0
CAND2	23066	broad.mit.edu	37	3	12856745	12856745	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:12856745C>A	ENST00000456430.2	+	8	1153	c.1112C>A	c.(1111-1113)cCc>cAc	p.P371H	CAND2_ENST00000295989.5_Missense_Mutation_p.P278H	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	371					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.P278N(1)|p.P371N(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GACCTGCTGCCCGATTTCCAC	0.597000													38	29					4.90274e-10	6.35487e-10	0.006230	1	0
SLC8A1	6546	broad.mit.edu	37	2	40656505	40656505	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:40656505C>A	ENST00000406785.1	-	2	1105	c.916G>T	c.(916-918)Ggt>Tgt	p.G306C	SLC8A1_ENST00000542756.1_Missense_Mutation_p.G306C|SLC8A1_ENST00000542024.1_Missense_Mutation_p.G306C|SLC8A1_ENST00000402441.1_Missense_Mutation_p.G306C|SLC8A1_ENST00000332839.4_Missense_Mutation_p.G306C|SLC8A1_ENST00000405269.1_Missense_Mutation_p.G306C|SLC8A1_ENST00000408028.2_Missense_Mutation_p.G306C|SLC8A1_ENST00000405901.3_Missense_Mutation_p.G306C|SLC8A1_ENST00000403092.1_Missense_Mutation_p.G306C|SLC8A1_ENST00000406391.2_Missense_Mutation_p.G306C			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	306					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.G306C(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACCAGAGCACCATCTAAGAAA	0.438000													67	197					6.05568e-20	9.16647e-20	0.003610	1	0
CNR1	1268	broad.mit.edu	37	6	88854965	88854965	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr6:88854965T>C	ENST00000537554.1	-	2	3591	c.29A>G	c.(28-30)gAt>gGt	p.D10G	CNR1_ENST00000428600.2_Missense_Mutation_p.D10G|CNR1_ENST00000468898.1_Missense_Mutation_p.D10G|CNR1_ENST00000369499.2_Missense_Mutation_p.D10G|CNR1_ENST00000369501.2_Missense_Mutation_p.D10G|CNR1_ENST00000535130.1_Missense_Mutation_p.D10G|CNR1_ENST00000549890.1_Missense_Mutation_p.D10G|CNR1_ENST00000549716.1_Missense_Mutation_p.I5V|CNR1_ENST00000362094.5_Missense_Mutation_p.D10G	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	10					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	p.D10G(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GAAGGTGGTATCTGCAAGGCC	0.483000													60	58					0	0	0.003610	0	0
DOPEY2	9980	broad.mit.edu	37	21	37572692	37572692	+	Silent	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr21:37572692G>A	ENST00000399151.3	+	4	469	c.384G>A	c.(382-384)ctG>ctA	p.L128L	DOPEY2_ENST00000492760.1_Intron	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	128					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		p.L128L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGCTCACCCTGTACGAGAAGT	0.612000													11	78					0	0	0.000978	0	0
STAG2	10735	broad.mit.edu	37	X	123195708	123195708	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:123195708G>A	ENST00000371160.1	+	17	1912	c.1622G>A	c.(1621-1623)aGa>aAa	p.R541K	STAG2_ENST00000371144.3_Missense_Mutation_p.R541K|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Missense_Mutation_p.R472K|STAG2_ENST00000371145.3_Missense_Mutation_p.R541K|STAG2_ENST00000371157.3_Missense_Mutation_p.R541K|STAG2_ENST00000218089.9_Missense_Mutation_p.R541K			Q8N3U4	STAG2_HUMAN	stromal antigen 2	541					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.R541K(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CCCGTGGGAAGAGGGACAGGA	0.363000													20	30					0	0	0.010504	0	0
PAF1	54623	broad.mit.edu	37	19	39876663	39876663	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr19:39876663C>T	ENST00000221265.3	-	14	1894	c.1564G>A	c.(1564-1566)Gat>Aat	p.D522N	PAF1_ENST00000595564.1_Silent_p.L450L|PAF1_ENST00000221266.7_Silent_p.L427L	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	522					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	p.D522N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCACTGGAATCAGAAGCTGCA	0.592000													9	51					0	0	0.008291	0	0
RASSF2	9770	broad.mit.edu	37	20	4776565	4776565	+	Silent	SNP	G	G	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:4776565G>T	ENST00000379400.3	-	5	378	c.183C>A	c.(181-183)ggC>ggA	p.G61G	RASSF2_ENST00000379376.2_Silent_p.G61G	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	61					cell cycle|signal transduction	nucleus	protein binding	p.G61G(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GCCGGCGCAGGCCCCAGGAGA	0.592000													19	60					1.56452e-12	2.13103e-12	0.007413	1	0
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs58784721		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485													7	9	---	---	---	---					
DOCK7	85440	broad.mit.edu	37	1	63128718	63128719	+	Frame_Shift_Ins	INS	-	-	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:63128718_63128719insA	ENST00000251157.5	-	2	154_155	c.121_122insT	c.(121-123)caafs	p.Q41fs	DOCK7_ENST00000340370.5_Frame_Shift_Ins_p.Q41fs|DOCK7_ENST00000404627.2_Frame_Shift_Ins_p.Q41fs	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	41					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GGATATATTGCCAACAATATTA	0.391													26	159	---	---	---	---					
GOLPH3L	55204	broad.mit.edu	37	1	150636173	150636173	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:150636173delC	ENST00000271732.3	-	3	294	c.250delG	c.(250-252)ccfs	p.A84fs	GOLPH3L_ENST00000540514.1_Intron	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	84						Golgi cisterna membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			CCCCGCATGGCCAGCTCTATC	0.498													75	58	---	---	---	---					
TOR1AIP2	163590	broad.mit.edu	37	1	179834280	179834281	+	Frame_Shift_Ins	INS	-	-	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr1:179834280_179834281insA	ENST00000553856.1	-	1	30_31	c.31_32insT	c.(31-33)tggfs	p.W11fs	TOR1AIP2_ENST00000367612.3_Intron|TOR1AIP2_ENST00000482587.1_5'UTR	NM_022347.3	NP_071742.1																					CTGTTGTCCACAATCAGGGCAA	0.426													27	96	---	---	---	---					
BIRC6	57448	broad.mit.edu	37	2	32640490	32640490	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:32640490delC	ENST00000421745.2	+	10	2265	c.2131delC	c.(2131-2133)ccfs	p.P711fs		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	711					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTCTGTGTTTCCCAAGCCTGG	0.468													21	67	---	---	---	---					
DFNB59	494513	broad.mit.edu	37	2	179318348	179318349	+	Splice_Site	INS	-	-	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr2:179318348_179318349insT	ENST00000409117.3	+	2	567		c.e2+1		DFNB59_ENST00000375129.4_Splice_Site	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59						sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			ATTTCAGCTGGTAAGTTTAAAT	0.327													8	17	---	---	---	---					
RP11-190P13.2	0	broad.mit.edu	37	3	114998331	114998331	+	RNA	DEL	A	A	-			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr3:114998331delA	ENST00000459855.1	+	0	338																											AAAAGGAATTAAACCCATGTG	0.453													6	9	---	---	---	---					
GBA3	57733	broad.mit.edu	37	4	22749403	22749404	+	RNA	INS	-	-	T			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:22749403_22749404insT	ENST00000511446.1	+	0	774_775				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTGCTAAACCCATATTCATCGA	0.446													20	96	---	---	---	---					
LPHN3	23284	broad.mit.edu	37	4	62903472	62903472	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr4:62903472delC	ENST00000512091.1	+	23	4158	c.3411delC	c.(3409-3411)tgfs	p.C1137fs	LPHN3_ENST00000545650.1_Frame_Shift_Del_p.C1137fs|LPHN3_ENST00000514996.1_Frame_Shift_Del_p.C1128fs|LPHN3_ENST00000506720.1_Frame_Shift_Del_p.C1205fs|LPHN3_ENST00000508693.1_Frame_Shift_Del_p.C1205fs|LPHN3_ENST00000506746.1_Frame_Shift_Del_p.C1196fs|LPHN3_ENST00000509896.1_Frame_Shift_Del_p.C1205fs|LPHN3_ENST00000508946.1_Frame_Shift_Del_p.C1137fs|LPHN3_ENST00000511324.1_Frame_Shift_Del_p.C1196fs|LPHN3_ENST00000507164.1_Frame_Shift_Del_p.C1196fs|LPHN3_ENST00000514591.1_Frame_Shift_Del_p.C1137fs|LPHN3_ENST00000514157.1_Frame_Shift_Del_p.C1128fs|LPHN3_ENST00000506700.1_Frame_Shift_Del_p.C1128fs|LPHN3_ENST00000504896.1_Frame_Shift_Del_p.C1137fs|LPHN3_ENST00000507625.1_Frame_Shift_Del_p.C1196fs			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1115					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATGGGAAATGCCTGCGAACAC	0.423													28	67	---	---	---	---					
TECPR1	25851	broad.mit.edu	37	7	97854161	97854161	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:97854161delG	ENST00000447648.2	-	19	2941	c.2642delC	c.(2641-2643)cgfs	p.P881fs	TECPR1_ENST00000479975.1_5'UTR|TECPR1_ENST00000379795.3_Frame_Shift_Del_p.P883fs			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	881						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CGTGCCCCCCGGAACGCTGAA	0.637													3	4	---	---	---	---					
PUS7	54517	broad.mit.edu	37	7	105111238	105111239	+	Frame_Shift_Ins	INS	-	-	A			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:105111238_105111239insA	ENST00000356362.2	-	11	1508_1509	c.1294_1295insT	c.(1294-1296)tgcfs	p.C432fs	PUS7_ENST00000469408.1_Frame_Shift_Ins_p.C432fs	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	432	TRUD.				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	p.T432I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						GAGGGCAGCAGTTGGGTCTTTG	0.455													39	146	---	---	---	---					
SLC26A4	5172	broad.mit.edu	37	7	107335136	107335137	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr7:107335136_107335137delTG	ENST00000265715.3	+	12	1636_1637	c.1412_1413delTG	c.(1411-1413)cfs	p.L471fs	SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000544569.1_Frame_Shift_Del_p.L58fs|SLC26A4_ENST00000543100.1_Frame_Shift_Del_p.L40fs|SLC26A4_ENST00000541474.1_Frame_Shift_Del_p.L32fs	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	471					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ATTCCTCGTCTGTGGAGACAGA	0.421									Pendred syndrome				36	60	---	---	---	---					
MROH5	389690	broad.mit.edu	37	8	142458251	142458251	+	RNA	DEL	C	C	-			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr8:142458251delC	ENST00000430863.1	-	0	2718					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		GGGGTTCTGACCTACTGTCCC	0.637													3	4	---	---	---	---					
ADAMTSL1	92949	broad.mit.edu	37	9	18906824	18906824	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:18906824delC	ENST00000380548.4	+	28	5435	c.5096delC	c.(5095-5097)acfs	p.T1699fs	ADAMTSL1_ENST00000380545.5_Frame_Shift_Del_p.T400fs	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1699	TSP type-1 9.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CATGCCCGCACCAACAAGGCA	0.612													26	46	---	---	---	---					
OR1L1	26737	broad.mit.edu	37	9	125424827	125424827	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr9:125424827delC	ENST00000373686.1	+	1	983	c.983delC	c.(982-984)acfs	p.T328fs				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	328					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						ATTATCTACACCGTACTGACT	0.403													36	57	---	---	---	---					
OR4C6	219432	broad.mit.edu	37	11	55433228	55433228	+	Frame_Shift_Del	DEL	T	T	-			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:55433228delT	ENST00000314259.3	+	1	615	c.586delT	c.(586-588)tafs	p.L196fs		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CCTGGGCCTCTTAGTTACCCT	0.443													34	104	---	---	---	---					
OR8D2	283160	broad.mit.edu	37	11	124189574	124189574	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr11:124189574delC	ENST00000357438.2	-	1	610	c.520delG	c.(520-522)tcfs	p.V174fs		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TAATGACTGACCGTATGAGAC	0.438													21	86	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	48934152	48934152	+	Splice_Site	DEL	G	G	-			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr13:48934152delG	ENST00000267163.4	+	7	745		c.e7-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(5)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTTTTTTCAGGGGAAGTATT	0.318		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			23	25	---	---	---	---					
PRDM7	11105	broad.mit.edu	37	16	90127890	90127890	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr16:90127890delC	ENST00000407825.1	-	8	939	c.302delG	c.(301-303)gafs	p.G101fs	PRDM7_ENST00000449207.2_Frame_Shift_Del_p.G307fs|PRDM7_ENST00000325921.6_Frame_Shift_Del_p.G101fs			Q9NQW5	PRDM7_HUMAN	PR domain containing 7	307						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TTTATCTTTTCCATCCACATA	0.408													54	125	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579471	7579471	+	Frame_Shift_Del	DEL	G	G	-	rs56275308		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:7579471delG	ENST00000420246.2	-	4	348	c.216delC	c.(214-216)ccfs	p.P72fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.P72fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P72fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P72fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P72fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P72fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	72	Interaction with HRMT1L2.|Interaction with WWOX.		P -> C (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> G (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in a sporadic cancer; somatic mutation).|P -> R (in dbSNP:rs1042522).		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.V73fs*76(11)|p.0?(8)|p.G59fs*23(3)|p.R72fs*51(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.V73fs*50(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(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)		CAGGGGCCACGGGGGGAGCAG	0.602		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)			82	112	---	---	---	---					
GGNBP2	79893	broad.mit.edu	37	17	34901617	34901618	+	Frame_Shift_Ins	INS	-	-	C	rs140693226		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr17:34901617_34901618insC	ENST00000304718.4	+	2	360_361	c.44_45insC	c.(43-45)tccfs	p.S15fs	GGNBP2_ENST00000485685.2_Frame_Shift_Ins_p.S15fs	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	15					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GAGGAGGAGTTCCCCTTCGAGA	0.713													3	3	---	---	---	---					
PLCB4	5332	broad.mit.edu	37	20	9368137	9368137	+	Frame_Shift_Del	DEL	A	A	-			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:9368137delA	ENST00000378501.2	+	12	1107	c.1092delA	c.(1090-1092)ggfs	p.G364fs	PLCB4_ENST00000334005.3_Frame_Shift_Del_p.G364fs|PLCB4_ENST00000278655.4_Frame_Shift_Del_p.G364fs|PLCB4_ENST00000414679.2_Frame_Shift_Del_p.G364fs|PLCB4_ENST00000378493.1_Frame_Shift_Del_p.G364fs|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Frame_Shift_Del_p.G364fs	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	364	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GCTGGGATGGAAAAGGTGAAG	0.308													14	139	---	---	---	---					
CASS4	57091	broad.mit.edu	37	20	55033542	55033542	+	Frame_Shift_Del	DEL	G	G	-	rs143052505		TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr20:55033542delG	ENST00000371336.3	+	6	2301	c.2100delG	c.(2098-2100)gcfs	p.A700fs	CASS4_ENST00000434344.1_Frame_Shift_Del_p.A263fs|CASS4_ENST00000360314.3_Frame_Shift_Del_p.A700fs	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	700					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GCCAGCCCGCGGAGATCATCA	0.592													15	119	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085696	11085698	+	RNA	DEL	ACT	ACT	-			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chr21:11085696_11085698delACT	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		caccaccaccactaccaccacta	0.591													2	4	---	---	---	---					
GPR174	84636	broad.mit.edu	37	X	78426763	78426763	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-6829-01A-21D-1855-08	TCGA-91-6829-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	443f5b2d-832e-45cf-bca5-3f064ea3bc50	8dfe00f3-1e3c-4752-b2fe-79e7dc150306	g.chrX:78426763delG	ENST00000276077.1	+	1	295	c.259delG	c.(259-261)ggfs	p.G87fs		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	87						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CTGGCCATTTGGGCCTGGTCT	0.418										HNSCC(63;0.18)			19	10	---	---	---	---					
